Frecuencia de la mutación F508 del en estudiantes de la Facultad de Medicina de la universidad del Rosario

Autor: Fonseca-Mendoza, Dora Janeth, Mateus Arbelaez, Heidi Eliana, Sanchez, Lina S, Peñaloza, Iván F, Forero, Diana V, Perdomo, Pamela A, Quiasua, Diana C, Ramírez, Alexander

Publikováno v: Colombia Medica
Repositorio EdocUR-U. Rosario
Universidad del Rosario
instacron:Universidad del Rosario

La fibrosis quística es la enfermedad letal autosómica recesiva más frecuente en caucásicos, donde su incidencia es de 1 en 2000 nacidos vivos. Se debe a mutaciones en el gen CFTR, de las cuales la más frecuente es la F508del presente en 66% de

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3056::85d3d21da4f34c484c3523d08d1830bb
https://repository.urosario.edu.co/handle/10336/27751

Correlation genotype-phenotype and molecular analysis in patients with Down syndrome. (Spanish)

Autor: Contreras Bravo, Nora Constanza, Silva Aldana, Claudia Tamar, Mateus Arbelaez, Heidi Eliana

Publikováno v: Revista Ciencias de la Salud; Dec2012, Vol. 10 Issue 3, p295-305, 11p

Estudio molecular de pacientes colombianos afectados por enanismo esencial

Autor: Navarrete Vargas, Julie Viviana

Publikováno v: Aarons, P. (1964). "Vogelkopdwergen." Maandschr Kinderge-neesk 32: 384-394.
Abd-Elsalam, K. A. (2003). "Bioinformatic tools and guideline for PCR primer design." african Journal of biotechnology 2(5): 91-95.
Abdel-Salam, G. M., M. S. Abdel-Hamid, N. A. Hassan, M. Y. Issa, L. Effat, S. Ismail, M. S. Aglan and M. S. Zaki (2013). "Further delineation of the clinical spectrum in RNU4ATAC related microcephalic osteodysplastic primordial dwarfism type I." American Journal of Medical Genetics Part A 161(8): 1875-1881.
Abdel-Salam, G. M., M. S. Abdel-Hamid, M. Issa, A. Magdy, A. El-Kotoury and K. Amr (2012). "Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I." American Journal of Medical Genetics Part A 158(6): 1455-1461.
Abolila, R. A., R. M. Alsawan and M. T. Alrefaie (2012). "Microcephalic osteodysplastic primordial dwarfism (MOPD) type I with lissencephaly and brain cyst." Egyptian Journal of Medical Human Genetics 13(3): 363-365.
Adachi, Y., A. Poduri, A. Kawaguch, G. Yoon, M. Salih, F. Yamashita, C. Walsh and A. Barkovich (2011). "Congenital microcephaly with a simplified gyral pattern: associated findings and their significance." American Journal of Neuroradiology 32(6): 1123-1129.
Afzal, A. R., A. Rajab, C. D. Fenske, M. Oldridge, N. Elanko, E. Ternes-Pereira, B. Tüysüz, V. A. Murday, M. A. Patton and A. O. Wilkie (2000). "Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2." Nature genetics 25(4): 419-422.
Aghajanova, L., A. Hamilton and L. Giudice (2008). Uterine receptivity to human embryonic implantation: histology, biomarkers, and transcriptomics. Seminars in cell & developmental biology, Elsevier.
Aguiar, M. L. J. B. (1988). Estudio de los factores de riesgo para el desarrollo prematuro de las enfermedades cardiovasculares en la poblacion escolar de El Santuario, Universidad de Antioquia.
Aicardi, J., M. Bax and C. Gillberg (2009). Diseases of the nervous system in childhood, Mac Keith Press.
Aigner, T., T. Rau, M. Niederhagen, F. Zaucke, M. Schmitz, U. Pöhls, H. Stöss, A. Rauch and C. T. Thiel (2007). "Achondrogenesis Type IA (Houston-Harris): a still-unresolved molecular phenotype." Pediatric and Developmental Pathology 10(4): 328-334.
Al-Ata, J., M. Paquet and A. S. Teebi (1998). "Congenital heart disease in Robinow syndrome." American journal of medical genetics 77(4): 332-333.
Al GAZAL, A., M. Hamada and W. Lytle (1995). "Microcephalic osteodysplastic primordial dwarfism type II." Clinical dysmorphology 4(3): 234-238.
Alarcón, C., A.-I. Zaromytidou, Q. Xi, S. Gao, J. Yu, S. Fujisawa, A. Barlas, A. N. Miller, K. Manova-Todorova and M. J. Macias (2009). "Nuclear CDKs drive Smad transcriptional activation and turnover in BMP and TGF-β pathways." Cell 139(4): 757-769.
Alatzoglou, K. S., P. C. Hindmarsh, C. Brain, J. Torpiano and M. T. Dattani (2009). "Acanthosis nigricans and insulin sensitivity in patients with achondroplasia and hypochodroplasia due to FGFR3 mutations." The Journal of Clinical Endocrinology & Metabolism 94(10): 3959-3963.
Albert, M. and A. H. Peters (2009). "Genetic and epigenetic control of early mouse development." Current opinion in genetics & development 19(2): 113-121.
Alderton, G. K., H. Joenje, R. Varon, A. D. Børglum, P. A. Jeggo and M. O'Driscoll (2004). "Seckel syndrome exhibits cellular features demonstrating defects in the ATR-signalling pathway." Human molecular genetics 13(24): 3127-3138.
Alioto, T. S. (2007). "U12DB: a database of orthologous U12-type spliceosomal introns." Nucleic acids research 35(suppl 1): D110-D115.
Amann, J., M. Valentine, V. J. Kidd and J. M. Lahti (1996). "Localization ofChl1-Related Helicase Genes to Human Chromosome Regions 12p11 and 12p13: Similarity between Parts of These Genes and Conserved Human Telomeric-Associated DNA." Genomics 32(2): 260-265.
Andersen, J. S., C. J. Wilkinson, T. Mayor, P. Mortensen, E. A. Nigg and M. Mann (2003). "Proteomic characterization of the human centrosome by protein correlation profiling." Nature 426(6966): 570-574.
Anoussakis, C., D. Liakakos, N. Zervos and T. Karpathios (1974). "Les nanismes congénitaux avec dysmorphie: II. Le nanisme congénital atête d’oiseau (type Virchow–Seckel)." Pediatrie 29: 261-267.
Anstey, A. (2001). "Photomedicine: lessons from the Smith–Lemli–Opitz syndrome." Journal of Photochemistry and Photobiology B: Biology 62(3): 123-127.
Argente, J., L. Ρérez-Jurado and J. F. Sotos (2000). "Molecular bases of pathological growth." International Journal on Disability and Human Development 1(4): 179-210.
Arnold, S. J. and E. J. Robertson (2009). "Making a commitment: cell lineage allocation and axis patterning in the early mouse embryo." Nature reviews Molecular cell biology 10(2): 91-103.
Awad, S., M. S. Al-Dosari, N. AlYacoub, D. Colak, M. A. Salih, F. S. Alkuraya and C. Poizat (2013). "Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis." Human molecular genetics: ddt072.
Bailey, C., A. E. Fryer and M. Greenslade (2015). "Warsaw Breakage Syndrome–A further report, emphasising cutaneous findings." European journal of medical genetics 58(4): 235-237.
Bakhshi, S., K. M. Cerosaletti, P. Concannon, E. V. Bawle, J. Fontanesi, R. A. Gatti and K. Bhambhani (2003). "Medulloblastoma with adverse reaction to radiation therapy in Nijmegen breakage syndrome." Journal of pediatric hematology/oncology 25(3): 248-251.
Barbosa-Buck, C. O., I. M. Orioli, M. da Graça Dutra, J. Lopez-Camelo, E. E. Castilla and D. P. Cavalcanti (2012). "Clinical epidemiology of skeletal dysplasias in South America." American Journal of Medical Genetics Part A 158(5): 1038-1045.
Barbosa, M., A. Sousa, A. Medeira, T. Lourenço, J. Saraiva, J. Pinto-Basto, G. Soares, A. Fortuna, A. Superti-Furga and L. Mittaz (2011). "Clinical and molecular characterization of diastrophic dysplasia in the Portuguese population." Clinical genetics 80(6): 550-557.
Bartsch, O., J. Labonté, B. Albrecht, D. Wieczorek, S. Lechno, U. Zechner and T. Haaf (2010). "Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein–Taybi syndrome." American Journal of Medical Genetics Part A 152(1): 181-184.
Basel-Vanagaite, L. and W. B. Dobyns (2010). "Clinical and brain imaging heterogeneity of severe microcephaly." Pediatric neurology 43(1): 7-16.
Basel, D. and R. D. Steiner (2009). "Osteogenesis imperfecta: recent findings shed new light on this once well-understood condition." Genetics in medicine 11(6): 375-385.
Basto, R., J. Lau, T. Vinogradova, A. Gardiol, C. G. Woods, A. Khodjakov and J. W. Raff (2006). "Flies without centrioles." Cell 125(7): 1375-1386.
Baujat, G., C. Huber, J. El Hokayem, R. Caumes, C. D. N. Thanh, A. David, A.-L. Delezoide, A. Dieux-Coeslier, B. Estournet and C. Francannet (2013). "Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families." Journal of medical genetics 50(2): 91-98.
Beales, P. L., E. Bland, J. L. Tobin, C. Bacchelli, B. Tuysuz, J. Hill, S. Rix, C. G. Pearson, M. Kai and J. Hartley (2007). "IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy." Nature genetics 39(6): 727-729.
Beiraghi, S., V. Leon-Salazar, B. Larson, M. John, M. Cunningham, A. Petryk and J. Lohr (2011). "Craniofacial and intraoral phenotype of Robinow syndrome forms." Clinical genetics 80(1): 15-24.
Bellus, G. A., E. B. Spector, P. W. Speiser, C. A. Weaver, A. T. Garber, C. R. Bryke, J. Israel, S. S. Rosengren, M. K. Webster and D. J. Donoghue (2000). "Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype." The American Journal of Human Genetics 67(6): 1411-1421.
Bergadá, I., L. Andreone, P. Bedecarrás, M. G. Ropelato, S. Copelli, P. Laissue, R. A. Rey and S. Campo (2008). "Seminiferous tubule function in delayed-onset X-linked adrenal hypoplasia congenita associated with incomplete hypogonadotrophic hypogonadism." Clinical endocrinology 68(2): 240-246.
Berger, A., N. Haschke, C. Kohlhauser, G. Amman, U. Unterberger and M. Weninger (1998). "Neonatal cholestasis and focal medullary dysplasia of the kidneys in a case of microcephalic osteodysplastic primordial dwarfism." Journal of medical genetics 35(1): 61-64.
Berkowitz, R., K. Grundfast, C. Scott, H. Saal, H. Stern and K. Rosenbaum (1991). "Middle ear disease in childhood achondroplasia." Ear, nose, & throat journal 70(5): 305-308.
Bicknell, L. S., E. M. Bongers, A. Leitch, S. Brown, J. Schoots, M. E. Harley, S. Aftimos, J. Y. Al-Aama, M.
Bober and P. A. Brown (2011). "Mutations in the pre-replication complex cause Meier-Gorlin syndrome." Nature genetics 43(4): 356-359.
Bicknell, L. S., S. Walker, A. Klingseisen, T. Stiff, A. Leitch, C. Kerzendorfer, C.-A. Martin, P. Yeyati, N. Al Sanna and M. Bober (2011). "Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome." Nature genetics 43(4): 350-355.
Biesecker, L. G. and J. Graham (1996). "Pallister-Hall syndrome." Journal of medical genetics 33(7): 585-589.
Biesecker, L. G. and R. C. Green (2014). "Diagnostic clinical genome and exome sequencing." New England Journal of Medicine 370(25): 2418-2425.
Bilge, I., H. Kayserili, S. Emre, A. Nayir, A. Sirin, T. Tukel, F. Bas, G. Kilic, S. Basaran and H. Gunoz (2000). "Frequency of renal malformations in Turner syndrome: analysis of 82 Turkish children." Pediatric Nephrology 14(12): 1111-1114.
Binder, G. (2011). "Short stature due to SHOX deficiency: genotype, phenotype, and therapy." Hormone research in paediatrics 75(2): 81-89.
Bishop, N. (1989). "Bone disease in preterm infants." Archives of disease in childhood 64(10 Spec No): 1403-1409.
Bixler, D. and R. M. Antley (1973). "Microcephalic dwarfism in sisters." Birth defects original article series 10(7): 161-165.
Black, I., J. Fitzsimmons, E. Fitzsimmons and A. Thomas (1982). "Parental consanguinity and the Majewski syndrome." Journal of medical genetics 19(2): 141-143.
Black, J. (1961). "Low birth weight dwarfism." Archives of disease in childhood 36(190): 633.
Blumer, M. J., S. Longato and H. Fritsch (2008). "Structure, formation and role of cartilage canals in the developing bone." Annals of Anatomy-Anatomischer Anzeiger 190(4): 305-315.
Bober, M. B., G. A. Bellus, S. M. Nikkel and G. E. Tiller (2013). "Hypochondroplasia."
Bober, M. B., N. Khan, J. Kaplan, K. Lewis, J. A. Feinstein, C. I. Scott and G. K. Steinberg (2010). "Majewski osteodysplastic primordial dwarfism type II (MOPD II): expanding the vascular phenotype." American Journal of Medical Genetics Part A 152(4): 960-965.
Bober, M. B., T. Niiler, A. L. Duker, J. E. Murray, T. Ketterer, M. E. Harley, S. Alvi, C. Flora, C. Rustad and E. M. Bongers (2012). "Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations." American Journal of Medical Genetics Part A 158(11): 2719-2725.
Bodurtha, J., A. Kessel, W. Berman and M. Hartenberg (1986). "Distinctive gastrointestinal anomaly associated with Coffin-Siris syndrome." The Journal of pediatrics 109(6): 1015-1017.
Boles, R., A. Teebi, D. Schwartz and J. Harper (1994). "Further delineation of the ear, patella, short stature syndrome (Meier-Gorlin syndrome)." Clinical dysmorphology 3(3): 207-214.
Boltshauser, E., C. Yalcinkaya, W. Wichmann, F. Reutter, A. Prader and A. Valavanis (1989). "MRI in Cockayne syndrome type I." Neuroradiology 31(3): 276-277.
Bonafé, L., L. Mittaz-Crettol, D. Ballhausen and A. Superti-Furga (2013). "Diastrophic dysplasia."
Bond, J., E. Roberts, G. H. Mochida, D. J. Hampshire, S. Scott, J. M. Askham, K. Springell, M. Mahadevan, Y. J. Crow and A. F. Markham (2002). "ASPM is a major determinant of cerebral cortical size." Nature genetics 32(2): 316-320.
Bond, J., S. Scott, D. J. Hampshire, K. Springell, P. Corry, M. J. Abramowicz, G. H. Mochida, R. C. Hennekam, E. R. Maher and J.-P. Fryns (2003). "Protein-truncating mutations in ASPM cause variable reduction in brain size." The American Journal of Human Genetics 73(5): 1170-1177.
Bondeson, J. (1992). "Caroline crachami, the sicilian fairy: A case of bird-headed dwarfism." American journal of medical genetics 44(2): 210-219.
Bongers, E. M., J. M. Opitz, A. Fryer, P. Sarda, R. Hennekam, B. D. Hall, D. W. Superneau, M. Harbison, A. Poss and H. v. Bokhoven (2001). "Meier-Gorlin syndrome: Report of eight additional cases and review." American journal of medical genetics 102(2): 115-124.
Borochowitz, Z., R. Lachman, G. Adomian, G. Spear, K. Jones and D. Rimoin (1988). "Achondrogenesis type I: delineation of further heterogeneity and identification of two distinct subgroups." The Journal of pediatrics 112(1): 23-31.
Boscherini, B., G. Iannaccone, C. La Cauza, G. Mancuso, F. Girotti, G. Finocchi and A. Pasquino (1981). "Intrauterine growth retardation." European journal of pediatrics 137(2): 237-242.
Brancati, F., M. Castori, R. Mingarelli and B. Dallapiccola (2005). "Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: clinical report and review of cerebral vascular anomalies." American Journal of Medical Genetics Part A 139(3): 212-215.
BRIEF, M. I. (2008). "Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome."
Britton, J. S. and B. A. Edgar (1998). "Environmental control of the cell cycle in Drosophila: nutrition activates mitotic and endoreplicative cells by distinct mechanisms." Development 125(11): 2149-2158.
Brizard, J., M. Mimouni, J. Seneze and J. Thoyer-Rozat (1973). "Sur un cas de nanisme extreme adebut intra-uterin vraisemblablement du type Seckel." Ann Pediatr 20: 655-660.
Brooks, R. and P. Riddle (1988). "The 3T3 cell cycle at low proliferation rates." Journal of cell science 90(4): 601-612.
Buck, D., L. Malivert, R. de Chasseval, A. Barraud, M.-C. Fondanèche, O. Sanal, A. Plebani, J.-L. Stéphan, M. Hufnagel and F. le Deist (2006). "Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly." Cell 124(2): 287-299.
Buebel, M. S., C. F. Salinas, G. S. Pai, R. I. Macpherson, M. K. Greer and A. Perez-Comas (1996). "A new Seckel-like syndrome of primordial dwarfism." American journal of medical genetics 64(3): 447-452.
Byers, P., P. Tsipouras, J. Bonadio, B. Starman and R. Schwartz (1988). "Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen." American journal of human genetics 42(2): 237.
Caburet, S., P. Zavadakova, Z. Ben-Neriah, K. Bouhali, A. Dipietromaria, C. Charon, C. Besse, P. Laissue, V. Chalifa-Caspi and S. Christin-Maitre (2012). "Genome-wide linkage in a highly consanguineous pedigree reveals two novel loci on chromosome 7 for non-syndromic familial premature ovarian failure." PLoS One 7(3): e33412.
Callier, P., L. Faivre, V. Cusin, N. Marle, C. Thauvin-Robinet, D. Sandre, T. Rousseau, P. Sagot, E. Lacombe and V. Faber (2005). "Microcephaly is not mandatory for the diagnosis of mosaic variegated aneuploidy syndrome." American Journal of Medical Genetics Part A 137(2): 204-207.
Camacho-Hübnerb, J. M. W. C. (2011). "Endocrine regulation of longitudinal bone growth." Endocr Dev 21: 30-41.
Camera, G. and P. Mastroiacovo (1981). "Birth prevalence of skeletal dysplasias in the Italian Multicentric Monitoring System for Birth Defects." Progress in clinical and biological research 104: 441-449.
Capo-Chichi, J. M., S. K. Bharti, J. A. Sommers, T. Yammine, E. Chouery, L. Patry, G. A. Rouleau, M. E. Samuels, F. F. Hamdan and J. L. Michaud (2013). "Identification and biochemical characterization of a novel mutation in DDX11 causing Warsaw breakage syndrome." Human mutation 34(1): 103-107.
Caron, E., S. Ghosh, Y. Matsuoka, D. Ashton-Beaucage, M. Therrien, S. Lemieux, C. Perreault, P. P. Roux and H. Kitano (2010). "A comprehensive map of the mTOR signaling network." Molecular systems biology 6(1): 453.
Carrière, A., M. Cargnello, L.-A. Julien, H. Gao, É. Bonneil, P. Thibault and P. P. Roux (2008). "Oncogenic MAPK signaling stimulates mTORC1 activity by promoting RSK-mediated raptor phosphorylation." Current Biology 18(17): 1269-1277.
Castro-Gago, M., M. Pombo, I. Novo, R. Tojo and J. Peña (1983). "Síndrome familiar de microcefalia con albinismo oculocutaneo y anomalías digitales." An Esp Pediatr 19: 128-131.
Castro, T., H. E. Mateus, D. J. Fonseca, D. Forero, C. M. Restrepo, C. Talero, A. Vélez and P. Laissue (2013). "Sequence analysis of the ADRA2A coding region in children affected by attention deficit hyperactivity disorder." Neurological Sciences 34(12): 2219-2222.
Castro, T., N. Ramírez, S. Ospina and H. Mateus (2010). "Probable efecto fundador de Síndrome Seckel en una población de Antioquia, Colombia." Iatreia 23(4-S): S-38.
CERVENKA, J., H. TSUCHIYA, T. ISHIKI, M. SUZUKI and H. MORI (1979). "Seckel's dwarfism: Analysis of chromosome breakage and sister chromatid exchanges." American Journal of Diseases of Children 133(5): 555-556.
Cizmecioglu, O., M. Arnold, R. Bahtz, F. Settele, L. Ehret, U. Haselmann-Weiß, C. Antony and I. Hoffmann (2010). "Cep152 acts as a scaffold for recruitment of Plk4 and CPAP to the centrosome." The Journal of cell biology 191(4): 731-739.
Clark, M. J., R. Chen, H. Y. Lam, K. J. Karczewski, R. Chen, G. Euskirchen, A. J. Butte and M. Snyder (2011). "Performance comparison of exome DNA sequencing technologies." Nature biotechnology 29(10): 908-914.
Coffin, G. S. and E. Siris (1970). "Mental retardation with absent fifth fingernail and terminal phalanx." American Journal of Diseases of Children 119(5): 433-439.
Cohen, A., R. Mulas, M. Seri, A. Gaiero, G. Fichera, M. Marini, M. Baffico and G. Camera (2002). "Meier-Gorlin syndrome (ear–patella–short stature syndrome) in an Italian patient: Clinical evaluation and analysis of possible candidate genes." American journal of medical genetics 107(1): 48-51.
Cohen, B., I. Temple, J. Symons, C. Hall, D. Shaw, M. Bhamra, A. Jackson and M. Pembrey (1991). "Microtia and short stature: a new syndrome." Journal of medical genetics 28(11): 786-790.
Conlon, I. and M. Raff (1999). "Size control in animal development." Cell 96(2): 235-244.
Cortez, D., S. Guntuku, J. Qin and S. J. Elledge (2001). "ATR and ATRIP: partners in checkpoint signaling." Science 294(5547): 1713-1716.
Cox, J., A. P. Jackson, J. Bond and C. G. Woods (2006). "What primary microcephaly can tell us about brain growth." Trends in molecular medicine 12(8): 358-366.
Cremin, B., H. Goodman, J. Spranger and P. Beighton (1982). "Wormian bones in osteogenesis imperfecta and other disorders." Skeletal radiology 8(1): 35-38.
Crickmore, M. A. and R. S. Mann (2008). "The control of size in animals: insights from selector genes." BioEssays: news and reviews in molecular, cellular and developmental biology 30(9): 843.
Cunniff, C., L. E. Kratz, A. Moser, M. R. Natowicz and R. I. Kelley (1997). "Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism." American journal of medical genetics 68(3): 263-269.
Cusminsky, M., H. Lejarraga, R. Mercer, M. Martell and R. Feschina (1986). Manual de crecimiento y desarrollo del niño. Manual de crecimiento y desarrollo del niño, Organización Panamericana de la Salud.
Chan, K. M. and N. M. King (2005). "Dubowitz syndrome: report of a case with emphasis on the oral features." Journal of dentistry for children 72(3): 100-103.
Chazaud, C., Y. Yamanaka, T. Pawson and J. Rossant (2006). "Early lineage segregation between epiblast and primitive endoderm in mouse blastocysts through the Grb2-MAPK pathway." Developmental cell 10(5): 615-624.
Chemaitilly, W., A. Goldenberg, G. Baujat, E. Thibaud, V. Cormier-Daire and V. Abadie (2002). "Adrenal insufficiency and abnormal genitalia in a 46XX female with Smith-Lemli-Opitz syndrome." Hormone research 59(5): 254-256.
Chen, C. P., S. R. Chern, J. C. Shih, W. Wang, L. F. Yeh, T. Y. Chang and C. Y. Tzen (2001). "Prenatal diagnosis and genetic analysis of type I and type II thanatophoric dysplasia." Prenatal diagnosis 21(2): 89-95.
Chen, D., A. Purohit, E. Halilovic, S. J. Doxsey and A. C. Newton (2004). "Centrosomal anchoring of protein kinase C βII by pericentrin controls microtubule organization, spindle function, and cytokinesis." Journal of Biological Chemistry 279(6): 4829-4839.
Chen, L., D. Wang, Z. Wu, L. Ma and G. Q. Daley (2010). "Molecular basis of the first cell fate determination in mouse embryogenesis." Cell research 20(9): 982-993.
Cheung, F., B. J. Haas, S. M. Goldberg, G. D. May, Y. Xiao and C. D. Town (2006). "Sequencing Medicago truncatula expressed sequenced tags using 454 Life Sciences technology." BMC genomics 7(1): 272.
Chistiakov, D. A., N. V. Voronova and A. P. Chistiakov (2009). "Ligase IV syndrome." European journal of medical genetics 52(6): 373-378.
Choufani, S., C. Shuman and R. Weksberg (2010). Beckwith–Wiedemann syndrome. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Wiley Online Library.
Christoforidis, A., I. Maniadaki and R. Stanhope (2005). "Managing children with Russell-Silver syndrome: more than just growth hormone treatment?" Journal of Pediatric Endocrinology and Metabolism 18(7): 651-652.
Chrzanowska, K. H., H. Gregorek, B. Dembowska-Bagińska, M. A. Kalina and M. Digweed (2012). "Nijmegen breakage syndrome (NBS)." Orphanet journal of rare diseases 7(1): 1.
D'Angelo, V., A. M. Ceddia, L. Zelante and F. P. Florio (1998). "Multiple intracranial aneurysms in a patient with Seckel syndrome." Child's Nervous System 14(1-2): 82-84.
Dallaire, L. and F. C. Fraser (1966). "The syndrome of retardation with urogenital and skeletal anomalies in siblings." The Journal of pediatrics 69(3): 459-460.
Darvish, H., S. Esmaeeli-Nieh, G. Monajemi, M. Mohseni, S. Ghasemi-Firouzabadi, S. Abedini, I. Bahman, P. Jamali, S. Azimi and F. Mojahedi (2010). "A clinical and molecular genetic study of 112 Iranian families with primary microcephaly." Journal of medical genetics 47(12): 823-828.
Dattani, M. and M. Preece (2004). "Growth hormone deficiency and related disorders: insights into causation, diagnosis, and treatment." The Lancet 363(9425): 1977-1987.
Dauber, A., S. H. LaFranchi, Z. Maliga, J. C. Lui, J. E. Moon, C. McDeed, K. Henke, J. Zonana, G. A. Kingman and T. H. Pers (2012). "Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein." The Journal of Clinical Endocrinology & Metabolism 97(11): E2140-E2151.
De La Cruz, F. (1963). "Bird-headed dwarf: a case report." American journal of mental deficiency 68: 54. de Lange, C. (1919). "Nanosomia vera." Jahrb. f. Kinderheilk 89.
de Munnik, S. A., L. S. Bicknell, S. Aftimos, J. Y. Al-Aama, Y. van Bever, M. B. Bober, J. Clayton-Smith, A. Y. Edrees, M. Feingold and A. Fryer (2012). "Meier–Gorlin syndrome genotype–phenotype studies: 35 174 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis." European Journal of Human Genetics 20(6): 598-606.
de Munnik, S. A., E. H. Hoefsloot, J. Roukema, J. Schoots, N. V. Knoers, H. G. Brunner, A. P. Jackson and E. M. Bongers (2015). "Meier-Gorlin syndrome." Orphanet journal of rare diseases 10(1): 114.
de Munnik, S. A., B. J. Otten, J. Schoots, L. S. Bicknell, S. Aftimos, J. Y. Al-Aama, Y. van Bever, M. B. Bober, G. F. Borm and J. Clayton-Smith (2012). "Meier–Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder." American Journal of Medical Genetics Part A 158(11): 2733-2742.
DeLuca, H. F. (1986). The metabolism and functions of vitamin D. Steroid Hormone Resistance, Springer: 361-375.
Delvaux, V., P. Moerman and J.-P. Fryns (1997). "Diaphragmatic hernia in the Coffin-Siris syndrome." Genetic counseling (Geneva, Switzerland) 9(1): 45-50.
DePristo, M. A., E. Banks, R. Poplin, K. V. Garimella, J. R. Maguire, C. Hartl, A. A. Philippakis, G. Del Angel, M. A. Rivas and M. Hanna (2011). "A framework for variation discovery and genotyping using next-generation DNA sequencing data." Nature genetics 43(5): 491-498.
Derbent, M., Y. Oncel, K. Tokel, B. Varan, A. Haberal, A. C. Yazıcı, E. Legius and N. Ozbek (2010). "Clinical and hematologic findings in Noonan syndrome patients with PTPN11 gene mutations." American Journal of Medical Genetics Part A 152(11): 2768-2774.
Desmet, F.-O., D. Hamroun, M. Lalande, G. Collod-Béroud, M. Claustres and C. Béroud (2009). "Human Splicing Finder: an online bioinformatics tool to predict splicing signals." Nucleic acids research 37(9): e67-e67.
Desviat, L. R., B. Pérez and M. Ugarte (2012). "Minigenes to confirm exon skipping mutations." Methods Mol Biol 867: 37-47.
Dhar, S. K. and A. Dutta (2000). "Identification and characterization of the human ORC6 homolog." Journal of Biological Chemistry 275(45): 34983-34988.
Diaz-Stransky, A. and E. Tierney (2012). Cognitive and behavioral aspects of Smith–Lemli–Opitz syndrome. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Wiley Online Library.
Dictenberg, J. B., W. Zimmerman, C. A. Sparks, A. Young, C. Vidair, Y. Zheng, W. Carrington, F. S. Fay and S. J. Doxsey (1998). "Pericentrin and γ-tubulin form a protein complex and are organized into a novel lattice at the centrosome." The Journal of cell biology 141(1): 163-174.
Diggle, C. P., D. A. Parry, C. V. Logan, P. Laissue, C. Rivera, C. M. Restrepo, D. J. Fonseca, J. E. Morgan, Y. Allanore and M. Fontenay (2012). "Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis." Human mutation 33(8): 1175-1181.
Dimitri, P. and N. Bishop (2007). "Rickets." Paediatrics and Child Health 17(7): 279-287.
Distel, L., S. Neubauer, R. Varon, W. Holter and G. Grabenbauer (2003). "Fatal toxicity following radio-and chemotherapy of medulloblastoma in a child with unrecognized Nijmegen Breakage Syndrome." Medical and pediatric oncology 41(1): 44-48.
Diviani, D., L. K. Langeberg, S. J. Doxsey and J. D. Scott (2000). "Pericentrin anchors protein kinase A at the centrosome through a newly identified RII-binding domain." Current Biology 10(7): 417-420.
Dong, J., G. Feldmann, J. Huang, S. Wu, N. Zhang, S. A. Comerford, M. F. Gayyed, R. A. Anders, A. Maitra and D. Pan (2007). "Elucidation of a universal size-control mechanism in Drosophila and mammals." Cell 130(6): 1120-1133.
Donnelly, D. E., V. McConnell, A. Paterson and P. J. Morrison (2010). "The prevalence of thanatophoric dysplasia and lethal osteogenesis imperfecta type II in Northern Ireland-a complete population study." The Ulster medical journal 79(3): 114.
Doxsey, S. J., P. Stein, L. Evans, P. D. Calarco and M. Kirschner (1994). "Pericentrin, a highly conserved centrosome protein involved in microtubule organization." Cell 76(4): 639-650.
Dressman, D., H. Yan, G. Traverso, K. W. Kinzler and B. Vogelstein (2003). "Transforming single DNA molecules into fluorescent magnetic particles for detection and enumeration of genetic variations." Proceedings of the National Academy of Sciences 100(15): 8817-8822.
Drimmer, F. (1973). Very special people: The struggles, loves, and triumphs of human oddities, Amjon Publishers.
Ducat, A., L. Doridot, R. Calicchio, C. Méhats, J.-L. Vilotte, J. Castille, S. Barbaux, B. Couderc, S. Jacques and F. Letourneur (2016). "Endothelial cell dysfunction and cardiac hypertrophy in the STOX1 model of preeclampsia." Scientific reports 6.
Dudkiewicz, M. and M. Tanzer (2004). "Total knee arthroplasty in Meier-Gorlin syndrome." The Journal of arthroplasty 19(7): 931-934.
Dvorkin, C., M. A. Dvorkin and D. P. Cardinali (2010). Best &Taylor. Bases Fisiológicas de la Práctica Médica, Ed. Médica Panamericana.
Dzhindzhev, N. S., D. Y. Quan, K. Weiskopf, G. Tzolovsky, I. Cunha-Ferreira, M. Riparbelli, A. Rodrigues-Martins, M. Bettencourt-Dias, G. Callaini and D. M. Glover (2010). "Asterless is a scaffold for the onset of centriole assembly." Nature 467(7316): 714-718.
Eakin, G. S. and R. R. Behringer (2003). "Tetraploid development in the mouse." Developmental Dynamics 228(4): 751-766.
Eason, J., C. Hall and J. Trounce (1995). "Renal tubular leakage complicating microcephalic osteodysplastic primordial dwarfism." Journal of medical genetics 32(3): 234-235.
Econs, M. J. and P. T. McEnery (1997). "Autosomal dominant hypophosphatemic rickets/osteomalacia: clinical characterization of a novel renal phosphate-wasting disorder." The Journal of Clinical Endocrinology & Metabolism 82(2): 674-681.
Edery, P., C. Marcaillou, M. Sahbatou, A. Labalme, J. Chastang, R. Touraine, E. Tubacher, F. Senni, M. B. Bober and S. Nampoothiri (2011). "Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA." Science 332(6026): 240-243.
Edwards, R. A., B. Rodriguez-Brito, L. Wegley, M. Haynes, M. Breitbart, D. M. Peterson, M. O. Saar, S. Alexander, E. C. Alexander and F. Rohwer (2006). "Using pyrosequencing to shed light on deep mine microbial ecology." BMC genomics 7(1): 57.
Epstein, C. J., R. P. Erickson and A. J. Wynshaw-Boris (2004). Inborn errors of development: the molecular basis of clinical disorders of morphogenesis, Oxford University Press.
Eroglu, Y., M. Nguyen-Driver, K. Freeman, L. Merkens, M. Merkens, J. Roullet, E. Elias, G. Sarphare, F. Porter and E. Tierney (2011). Smith-Lemli-Opitz syndrome with normal IQ. Pediatric Academic Societies and Asian Society for Pediatric Research Joint Meeting.
Eynard, A. R., M. A. Valentich and R. A. Rovasio (2008). Histología y embriología del ser humano: bases celulares y moleculares, Ed. Médica Panamericana.
Faivre, L., M. Le Merrer, S. Lyonnet, H. Plauchu, N. Dagoneau, A. Campos-Xavier, J. Attia-Sobol, A. Verloes, A. Munnich and V. Cormier-Daire (2002). "Clinical and genetic heterogeneity of Seckel syndrome." American journal of medical genetics 112(4): 379-383.
Fan, Y., T. Newman, E. Linardopoulou and B. J. Trask (2002). "Gene content and function of the ancestral chromosome fusion site in human chromosome 2q13–2q14. 1 and paralogous regions." Genome research 12(11): 1663-1672.
Fankhauser, G. (1952). "Nucleo-cytoplasmic relations in amphibian development." International Review of Cytology 1: 165-193.
Faqeih, E., N. Sakati and A. S. Teebi (2005). "Meier-Gorlin (ear-patella-short stature) syndrome: Growth hormone deficiency and previously unrecognized findings." American Journal of Medical Genetics Part A 137(3): 339-341.
Faraone, S. V., J. Biederman, C. P. Morley and T. J. Spencer (2008). "Effect of stimulants on height and weight: a review of the literature." Journal of the American Academy of Child & Adolescent Psychiatry 47(9): 994-1009.
Feingold, M. (2002). "Meier-Gorlin syndrome." American journal of medical genetics 109(4): 338-338.
Ferrández, A., J. Labarta, M. Calvo, E. Mayayo, B. Puga, E. Cáncer and M. Pombo (2002). "Síndrome de Turner." Pombo M. Tratado de Endocrinología Pediátrica. 3a ed, Madrid: McGraw-Hill Interamericana: 780-803.
Ferreira, A., A. Matias, O. Brandão and N. Montenegro (2004). "Nuchal translucency and ductus venosus blood flow as early sonographic markers of thanatophoric dysplasia." Fetal diagnosis and therapy 19(3): 241-245.
Fitch, N., L. Pinsky and R. C. Lachance (1970). "A form of bird-headed dwarfism with features of premature senility." American Journal of Diseases of Children 120(3): 260-264.
Fitzky, B. U., M. Witsch-Baumgartner, M. Erdel, J. N. Lee, Y.-K. Paik, H. Glossmann, G. Utermann and F. F. Moebius (1998). "Mutations in the Δ7-sterol reductase gene in patients with the Smith–Lemli–Opitz syndrome." Proceedings of the National Academy of Sciences 95(14): 8181-8186.
Flanagan, S. E., A.-M. Patch and S. Ellard (2010). "Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations." Genetic testing and molecular biomarkers 14(4): 533-537.
Fleck, B. J., A. Pandya, L. Vanner, K. Kerkering and J. Bodurtha (2001). "Coffin-Siris syndrome: Review and presentation of new cases from a questionnaire study." American journal of medical genetics 99(1): 1-7.
Flejter, W. L., B. Issa, B. A. Sullivan, J. C. Carey and A. R. Brothman (1998). "Variegated aneuploidy in two siblings: Phenotype, genotype, CENP-E analysis, and literature review." American journal of medical genetics 75(1): 45-51.
Flory, M. R., M. J. Moser, R. J. Monnat and T. N. Davis (2000). "Identification of a human centrosomal calmodulin-binding protein that shares homology with pericentrin." Proceedings of the National Academy of Sciences 97(11): 5919-5923.
Fonseca, D., R. Rojas, J. Vergara, X. Rios, C. Uribe, L. Chavez, F. Velandia, C. Vargas, C. Restrepo and P. Laissue (2013). "A severe familial phenotype of Ichthyosis Curth–Macklin caused by a novel mutation in the KRT1 gene." British Journal of Dermatology 168(2): 456-458.
Fonseca, D. J., E. Garzón, B. Lakhal, R. Braham, D. Ojeda, H. Elghezal, A. Saâd, C. M. Restrepo and P. Laissue (2012). "Screening for mutations of the FOXO4 gene in premature ovarian failure patients." Reproductive biomedicine online 24(3): 339-341.
Fonseca, D. J., D. Ojeda, B. Lakhal, R. Braham, S. Eggers, E. Turbitt, S. White, S. Grover, G. Warne and M. Zacharin (2012). "CITED2 mutations potentially cause idiopathic premature ovarian failure." Translational Research 160(5): 384-388.
Fonseca, D. J., O. Ortega-Recalde, C. Esteban-Perez, H. Moreno-Ortiz, L. C. Patiño, O. M. Bermúdez, A. M. Ortiz, C. M. Restrepo, E. Lucena and P. Laissue (2014). "BMP15 c.-9C> G promoter sequence variant may contribute to the cause of non-syndromic premature ovarian failure." Reproductive biomedicine online 29(5): 627-633.
Fonseca, D. J., L. C. Patiño, Y. C. Suárez, A. de Jesús Rodríguez, H. E. Mateus, K. M. Jiménez, O. Ortega-Recalde, I. Díaz-Yamal and P. Laissue (2015). "Next generation sequencing in women affected by nonsyndromic premature ovarian failure displays new potential causative genes and mutations." Fertility and sterility 104(1): 154-162. e152.
Fonseca, D. J., C. F. Prada, L. M. Siza, D. Angel, Y. M. Gomez, C. M. Restrepo, H. Douben, F. Rivadeneira, A. de Klein and P. Laissue (2012). "A de novo 14q12q13. 3 interstitial deletion in a patient affected by a severe neurodevelopmental disorder of unknown origin." American Journal of Medical Genetics Part A 158(3): 689-693.
Forero, D. A., A. Wonkam, W. Wang, P. Laissue, C. López-Correa, J. C. Fernández-López, R. Mugasimangalam and G. Perry (2016). "Current needs for human and medical genomics research infrastructure in low and middle income countries." Journal of medical genetics: jmedgenet-2015-103631.
Fowler, E. S., L. P. Glinski, C. A. Reiser, V. K. Horton and R. M. Pauli (1997). "Biophysical bases for delayed and aberrant motor development in young children with achondroplasia." Journal of Developmental & Behavioral Pediatrics 18(3): 143-150.
Frankenne, F., J. Closset, F. Gomez, M.-L. Scippo, J. Smal and G. Hennen (1988). "The Physiology of Growth Hormones (GHs) in Pregnant Women and Partial Characterization of the Placental GH Variant*." The Journal of Clinical Endocrinology & Metabolism 66(6): 1171-1180.
Friede, R. L. (1989). Disturbances in bulk growth: megalencephaly, micrencephaly, atelencephaly and others. Developmental neuropathology, Springer: 296-308.
Frijns, J. and H. van den Berghe (1976). "Familial bird headed dwarfism." Acta Paediatr Belg 29: 121-122.
Fryns, J.-P. (1998). "Meier-Gorlin syndrome: the adult phenotype." Clinical dysmorphology 7(3): 231-232.
Fukuzawa, R., S. Sato, M. J. Sullivan, G. Nishimura, T. Hasegawa and N. Matsuo (2002). "Autopsy case of microcephalic osteodysplastic primordial “dwarfism” type II." American journal of medical genetics 113(1): 93-96.
Galasso, C., A. Lo-Castro, C. Lalli, C. Cerminara and P. Curatolo (2008). "Neurologic aspects of microcephalic osteodysplastic primordial dwarfism type II." Pediatric neurology 38(6): 435-438.
Ganong, W. F. (2001). "Hormonal control of calcium metabolism and the physiology of bone." Review of medical physiology: 369-382.
Ganong, W. F. and K. E. Barrett (2005). Review of medical physiology, McGraw-Hill Medical ^ eNew York New York.
Gao, F.-B. and M. Raff (1997). "Cell size control and a cell-intrinsic maturation program in proliferating oligodendrocyte precursor cells." The Journal of cell biology 138(6): 1367-1377.
Gasperowicz, M. and D. R. Natale (2011). "Establishing three blastocyst lineages—then what?" Biology of reproduction 84(4): 621-630.
Gellis, S. S. and M. Feingold (1967). "Picture of the Month." American journal of diseases of children 113(1): 177-NP.
Gezdirici, A., E. Yosunkaya, A. Paydas, M. Seven and A. Yuksel (2010). "Expanding the phenotypical spectrum of Meier–Gorlin syndrome with novel findings: Multiple hypopigmented skin lesions and sacral dimple." Clin Genet 78(Suppl 1): 29.
Gilbert, S. F. and D. Epel (2009). Ecological developmental biology: integrating epigenetics, medicine, and evolution, Sinauer Associates Sunderland.
Gilissen, C., A. Hoischen, H. G. Brunner and J. A. Veltman (2012). "Disease gene identification strategies for exome sequencing." European Journal of Human Genetics 20(5): 490-497.
Gillingham, A. K. and S. Munro (2000). "The PACT domain, a conserved centrosomal targeting motif in the coiled-coil proteins AKAP450 and pericentrin." EMBO reports 1(6): 524-529.
Goldblatt, J., P. Carman and P. Sprague (1991). "Unique dwarfing, spondylometaphyseal skeletal dysplasia, with joint laxity and dentinogenesis imperfecta." American journal of medical genetics 39(2): 170-172.
Gómez, S. O., V. S. Padilla, G. A. Lain, M. A. L. Vilchez and M. B. Alcaina (2014). "Una causa de talla baja de inicio prenatal A prenatal cause of short stature." Rev Esp Endocrinol Pediatr 5(2): 65-72.
Goodship, J., H. Gill, J. Carter, A. Jackson, M. Splitt and M. Wright (2000). "Autozygosity mapping of a seckel syndrome locus to chromosome 3q22. 1-q24." The American Journal of Human Genetics 67(2): 498-503.
Gorlin, R. J., J. Cervenka, K. Moller, M. Horrobin and C. Witkop Jr (1974). "Malformation syndromes. A selected miscellany." Birth defects original article series 11(2): 39-50.
Graham, J. M. and D. Rimoin (1997). "Abnormal body size and proportion." Rimoin DL, Connor JM, Pyeritz RE, eds. Emery and Rimon's principles and practice of medical genetics. 3rd ed. New York: Churchill Livingstone: 737-752.
Gratacós, E. (2007). Medicina fetal, Ed. Médica Panamericana.
Gravholt, C. H., S. Juul, R. W. Naeraa and J. Hansen (1998). "Morbidity in Turner syndrome." Journal of clinical epidemiology 51(2): 147-158.
Greenhaw, G., A. Hebert, M. Duke-Woodside, I. Butler, J. Hecht, J. Cleaver, G. Thomas and W. Horton (1992). "Xeroderma pigmentosum and Cockayne syndrome: overlapping clinical and biochemical phenotypes." American journal of human genetics 50(4): 677.
Griffith, E., S. Walker, C.-A. Martin, P. Vagnarelli, T. Stiff, B. Vernay, N. Al Sanna, A. Saggar, B. Hamel and W. C. Earnshaw (2008). "Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling." Nature genetics 40(2): 232-236.
Grigelioniene, G., S. Geiberger, N. Papadogiannakis, O. Mäkitie, G. Nishimura, A. Nordgren and P. Conner (2013). "The phenotype range of achondrogenesis 1A." American Journal of Medical Genetics Part A 161(10): 2554-2558.
Guernsey, D. L., M. Matsuoka, H. Jiang, S. Evans, C. Macgillivray, M. Nightingale, S. Perry, M. Ferguson, M. LeBlanc and J. Paquette (2011). "Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome." Nature genetics 43(4): 360-364.
Gul, A., M. Tariq, M. N. Khan, M. J. Hassan, G. Ali and W. Ahmad (2007). "Novel protein-truncating mutations in the ASPM gene in families with autosomal recessive primary microcephaly." Journal of neurogenetics 21(3): 153-163.
Haan, E., M. Furness, S. Knowles, L. Morris, G. Scott, J. Svigos and R. Vigneswaren (1989). "Osteodysplastic primordial dwarfism: report of a further case with manifestations similar to those of types I and III." American journal of medical genetics 33(2): 224-227.
Halder, A., J. Pahi, A. K. Sharma, V. Bhatia, R. Phadke, R. Gujral and S. Agarwal (1998). "Brief Clinical Report: Osteodysplastic Primordial Dwarfism Type II With Normal Intellect but Delayed Central Nervous System Myelination." American journal of medical genetics 80: 12-15.
Hall, J. G., C. Flora, C. I. Scott, R. M. Pauli and K. I. Tanaka (2004). "Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical findings." American Journal of Medical Genetics Part A 130(1): 55-72.
Hammer, B., M. Strickert and T. Villmann (2005). Prototype based recognition of splice sites. Bioinformatics using computational intelligence paradigms, Springer: 25-55.
Hamosh, A., A. F. Scott, J. S. Amberger, C. A. Bocchini and V. A. McKusick (2005). "Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders." Nucleic acids research 33(suppl 1): D514-D517.
Hanks, S., K. Coleman, S. Reid, A. Plaja, H. Firth, D. FitzPatrick, A. Kidd, K. Méhes, R. Nash and N. Robin (2004). "Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B." Nature genetics 36(11): 1159-1161.
Harper, R. G., E. Orti and R. K. Baker (1967). "Bird-headed dwarfs (Seckel's syndrome): A familial pattern of developmental, dental, skeletal, genital, and central nervous system anomalies." The Journal of pediatrics 70(5): 799-804.
Hartwell, L. H., J. Culotti, J. R. Pringle and B. J. Reid (1974). "Genetic control of the cell division cycle in yeast." Science 183(4120): 46-51.
Haspolat, K., A. Ece, F. Gürkan, Y. Atamer, M. Tutanç and İ. Yolbaş (2007). "Relationships between leptin, insulin, IGF-1 and IGFBP-3 in children with energy malnutrition." Clinical biochemistry 40(3): 201-205.
Hästbacka, J., A. de la Chapelle, M. M. Mahtani, G. Clines, M. P. Reeve-Daly, M. Daly, B. A. Hamilton, K. Kusumi, B. Trivedi and A. Weaver (1994). "The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping." Cell 78(6): 1073-1087.
Hayani, A., C. R. Suarez, Z. Molnar, M. LeBeau and J. Godwin (1994). "Acute myeloid leukaemia in a patient with Seckel syndrome." Journal of medical genetics 31(2): 148-149.
Hayes, M., G. Parker, J. Ell and D. Sillence (1999). "Basilar impression complicating osteogenesis imperfecta type IV: the clinical and neuroradiological findings in four cases." Journal of Neurology, Neurosurgery & Psychiatry 66(3): 357-364.
He, H., S. Liyanarachchi, K. Akagi, R. Nagy, J. Li, R. C. Dietrich, W. Li, N. Sebastian, B. Wen and B. Xin (2011). "Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I." Science 332(6026): 238-240.
Heallen, T., M. Zhang, J. Wang, M. Bonilla-Claudio, E. Klysik, R. L. Johnson and J. F. Martin (2011). "Hippo pathway inhibits Wnt signaling to restrain cardiomyocyte proliferation and heart size." Science 332(6028): 458-461.
Hecht, J. T., C. Francomano, W. Horton and J. Annegers (1987). "Mortality in achondroplasia." American journal of human genetics 41(3): 454.
Hecht, J. T., O. J. Hood, R. J. Schwartz, J. C. Hennessey, B. A. Bernhardt, W. A. Horton, J. M. Opitz and J. F. Reynolds (1988). "Obesity in achondroplasia." American journal of medical genetics 31(3): 597-602.
Heinisch, H. (1967). "[On the differential diagnosis of bird's head dwarfism and Rubinstein-Taybi syndrome]." Der Radiologe 7(12): 387-390.
Hemerly, A. S., S. G. Prasanth, K. Siddiqui and B. Stillman (2009). "Orc1 controls centriole and centrosome copy number in human cells." Science 323(5915): 789-793.
Hennekam, R., J. B. Bijlsma, J. Spranger and G. Neri (1987). "Further delineation of the 3-M syndrome with review of the literature." American journal of medical genetics 28(1): 195-209.
Hennekam, R. C. (2009). Gorlin's Syndromes of the Head and Neck, Oxford University Press USA. Henning, K. A., L. Li, N. Iyer, L. D. McDaniel, M. S. Reagan, R. Legerski, R. A. Schultz, M. Stefanini, A. R. Lehmann and L. V. Mayne (1995). "The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH." Cell 82(4): 555-564.
Herman, T., N. Mendelsohn, S. B. Dowton and W. McAlister (1991). "Microcephalic osteodysplastic primordial dwarfism, type II." Pediatric radiology 21(8): 602-604.
Hersh, J., M. Joyce, J. Spranger, E. Goatley, R. Lachman, S. Bhatt and D. Rimoin (1994). "Microcephalic osteodysplastic dysplasia." American journal of medical genetics 51(3): 194-199.
Hert, D. G., C. P. Fredlake and A. E. Barron (2008). "Advantages and limitations of next-generation sequencing technologies: A comparison of electrophoresis and non-electrophoresis methods." Electrophoresis 29(23): 4618-4626.
Heselson, N., B. Cremin and P. Beighton (1979). "The radiographic manifestations of hypochondroplasia." Clinical radiology 30(1): 79-85.
Heuertz, S., M. Le Merrer, B. Zabel, M. Wright, L. Legeai-Mallet, V. Cormier-Daire, L. Gibbs and J. Bonaventure (2006). "Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia." European journal of human genetics 14(12): 1240-1247.
Hiel, J., C. Weemaes, B. van Engelen, D. Smeets, M. Ligtenberg, I. van Der Burgt, L. van den Heuvel, K. Cerosaletti, F. Gabreëls and P. Concannon (2001). "Nijmegen breakage syndrome in a Dutch patient not resulting from a defect in NBS1." Journal of medical genetics 38(6): e19-e19.
Higgins, J., C. Midgley, A.-M. Bergh, S. M. Bell, J. M. Askham, E. Roberts, R. K. Binns, S. M. Sharif, C. Bennett and D. M. Glover (2010). "Human ASPM participates in spindle organisation, spindle orientation and cytokinesis." BMC cell biology 11(1): 1.
Hill, M. A. (2001). "Unsw embryology." UNSW Embryology.
Hirt, H., J. Kimelman, M. J. Birnbaum, E. Y. Chen, P. H. Seeburg, N. L. Eberhardt and A. Barta (1987). "The human growth hormone gene locus: structure, evolution, and allelic variations." Dna 6(1): 59-70.
Hong, Y.-R., C.-H. Chen, M.-H. Chuo, S.-Y. Liou and S.-L. Howng (2000). "Genomic organization and molecular characterization of the human ninein gene." Biochemical and biophysical research communications 279(3): 989-995.
Horton, W. A., J. G. Hall, C. I. Scott, R. E. Pyeritz and D. L. Rimoin (1982). "Growth curves for height for diastrophic dysplasia, spondyloepiphyseal dysplasia congenita, and pseudoachondroplasia." American Journal of Diseases of Children 136(4): 316-319.
Hortop, J., P. Tsipouras, J. Hanley, B. Maron and J. Shapiro (1986). "Cardiovascular involvement in osteogenesis imperfecta." Circulation 73(1): 54-61.
Hossain, M. and B. Stillman (2012). "Meier-Gorlin syndrome mutations disrupt an Orc1 CDK inhibitory domain and cause centrosome reduplication." Genes & development 26(16): 1797-1810.
Huang-Doran, I., L. S. Bicknell, F. M. Finucane, N. Rocha, K. M. Porter, Y. L. Tung, F. Szekeres, A. Krook, J. J. Nolan and M. O’Driscoll (2011). "Genetic defects in human pericentrin are associated with severe insulin resistance and diabetes." Diabetes 60(3): 925-935.
Huber, C., A.-L. Delezoide, F. Guimiot, C. Baumann, V. Malan, M. Le Merrer, D. B. Da Silva, D. Bonneau, P. Chatelain and C. Chu (2009). "A large-scale mutation search reveals genetic heterogeneity in 3M syndrome." European Journal of Human Genetics 17(3): 395-400.
Huber, R. S., D. Houlihan and K. Filter (2011). "Dubowitz syndrome: a review and implications for cognitive, behavioral, and psychological features." Journal of clinical medicine research 3(4): 147.
Hulse, T., J. Lin and M. Irving (2012). Hypochondroplasia with hippocampal dysgenesis and neonatal onset of medial temporal lobe epilepsy. Poster. Leipzig, Germany: 51 st Annual Meeting of the European Society for Paediatric Endocrinology.
Hung, L.-Y., C.-J. C. Tang and T. K. Tang (2000). "Protein 4.1 R-135 interacts with a novel centrosomal protein (CPAP) which is associated with the γ-tubulin complex." Molecular and cellular biology 20(20): 7813-7825.
Hurst, J., R. Winter, M. Baraitser, J. M. Optiz and J. F. Reynolds (1988). "Distinctive syndrome of short stature, craniosynostosis, skeletal changes, and malformed ears." American journal of medical genetics 29(1): 107-115.
Ilyina, H. G. and I. W. Lurie (1990). "Dubowitz syndrome: possible evidence for a clinical subtype." American journal of medical genetics 35(4): 561-565.
Jacquemont, S., M. Bocéno, J. M. Rival, F. Méchinaud and A. David (2002). "High risk of malignancy in mosaic variegated aneuploidy syndrome." American journal of medical genetics 109(1): 17-21.
Jafarifar, F., R. C. Dietrich, J. M. Hiznay and R. A. Padgett (2014). "Biochemical defects in minor spliceosome function in the developmental disorder MOPD I." rna 20(7): 1078-1089.
Jeanty, P. and G. Valero "La valoración del feto con displasia esquelética."
Jian, X., E. Boerwinkle and X. Liu (2013). "In silico tools for splicing defect prediction: a survey from the viewpoint of end users." Genetics in Medicine 16(7): 497-503.
Johnston, G., J. Pringle and L. Hartwell (1977). "Coordination of growth with cell division in the yeast Saccharomyces cerevisiae." Experimental cell research 105(1): 79-98.
Jones, K. L., M. C. Jones and M. Del Campo (2013). Smith's recognizable patterns of human malformation, Elsevier Health Sciences.
188 Jongmans, M. C., I. Van Der Burgt, P. M. Hoogerbrugge, K. Noordam, H. G. Yntema, W. M. Nillesen, R. P. Kuiper, M. J. Ligtenberg, A. G. Van Kessel and J. H. J. van Krieken (2011). "Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation." European Journal of Human Genetics 19(8): 870-874.
Jorgensen, P. and M. Tyers (2004). "How cells coordinate growth and division." Current Biology 14(23): R1014-R1027.
Juric-Sekhar, G., R. P. Kapur, I. A. Glass, M. L. Murray, S. E. Parnell and R. F. Hevner (2011). "Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III." Acta neuropathologica 121(4): 545-554.
Kalay, E., G. Yigit, Y. Aslan, K. E. Brown, E. Pohl, L. S. Bicknell, H. Kayserili, Y. Li, B. Tüysüz and G. Nürnberg (2011). "CEP152 is a genome maintenance protein disrupted in Seckel syndrome." Nature genetics 43(1): 23-26.
Kantaputra, P., P. Tanpaiboon, T. Porntaveetus, A. Ohazama, P. Sharpe, A. Rauch, A. Hussadaloy and C. T. Thiel (2011). "The smallest teeth in the world are caused by mutations in the PCNT gene." American Journal of Medical Genetics Part A 155(6): 1398-1403.
Kapur, R. P. (2007). "Achondrogenesis." Pediatric and Developmental Pathology 10(4): 253-255.
Karczeski, B. and G. R. Cutting (2013). "Thanatophoric dysplasia."
Katoh, M. (2007). "Networking of WNT, FGF, Notch, BMP, and Hedgehog signaling pathways during carcinogenesis." Stem cell reviews 3(1): 30-38.
Katyal, S. and P. J. McKinnon (2007). "DNA repair deficiency and neurodegeneration." Cell Cycle 6(19): 2360-2365.
Kelberman, D., K. Rizzoti, R. Lovell-Badge, I. C. Robinson and M. T. Dattani (2009). "Genetic regulation of pituitary gland development in human and mouse." Endocrine reviews 30(7): 790-829.
Kelley, R. I. and R. C. Hennekam (2000). "The smith-lemli-opitz syndrome." Journal of Medical Genetics 37(5): 321-335.
Keppler-Noreuil, K. M., M. P. Adam, J. Welch, A. Muilenburg and M. C. Willing (2011). "Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy)." American Journal of Medical Genetics Part A 155(5): 1021-1032.
Khalil, A., E. Pajkrt and L. S. Chitty (2011). "Early prenatal diagnosis of skeletal anomalies." Prenatal diagnosis 31(1): 115-124.
Khaykin, P., P. Kotzerke, C. Stephan, G. Nisius, M. Bickel, A. Haberl, M. Sturmer, M. Kurowski, R. Brodt and N. von Hentig (2014). "Lopinavir/ritonavir pharmacokinetics, efficacy, and safety in HIV and hepatitis B or C coinfected adults without symptoms of hepatic impairment." Ther Drug Monit 36(2): 192-201.
Klein, C., I. R. König and K. Lohmann (2012). "Exome sequencing for gene discovery: time to set standard criteria." Annals of neurology 72(4): 627-628.
Kline, A. D., I. D. Krantz, A. Sommer, M. Kliewer, L. G. Jackson, D. R. FitzPatrick, A. V. Levin and A. Selicorni (2007). "Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance." American journal of medical genetics part A 143(12): 1287-1296.
Klinge, L., J. Schaper, D. Wieczorek and T. Voit (2002). "Microlissencephaly in microcephalic osteodysplastic primordial dwarfism: a case report and review of the literature." Neuropediatrics 33(6): 309-313.
Klingseisen, A. and A. P. Jackson (2011). "Mechanisms and pathways of growth failure in primordial dwarfism." Genes & development 25(19).
Kogut, M. and J. Sensenbrenner (1974). "Low birthweight syndrome in two brothers." Birth defects original article series 11(2): 450-452.
Kozlowski, K. and K. Bartkowiak (1965). "Hypochondroplasia." Pediatria polska 40: 379.
Kozlowski, K., T. Donovan, J. Masel and R. Wright (1993). "Microcephalic, osteodysplastic, primordial dwarfism." Australasian radiology 37(1): 111-114.
Krajewska-Walasek, M., W. Gradowska, J. Ryzko, P. Socha, J. Chmielik, W. Szapłyko, J. Kasprzyk, B. Górska, M. Szreter and J. Wolski (1999). "Further delineation of the classical Smith-Lemli-Opitz syndrome phenotype at different patient ages: clinical and biochemical studies." Clinical dysmorphology 8(1): 29-40.
Krämer, A., N. Mailand, C. Lukas, R. G. Syljuåsen, C. J. Wilkinson, E. A. Nigg, J. Bartek and J. Lukas (2004). "Centrosome-associated Chk1 prevents premature activation of cyclin-B–Cdk1 kinase." Nature cell biology 6(9): 884-891.
Kumar, A., S. Blanton, M. Babu, M. Markandaya and S. Girimaji (2004). "Genetic analysis of primary microcephaly in Indian families: novel ASPM mutations." Clinical genetics 66(4): 341-348.
Kuo, A. J., J. Song, P. Cheung, S. Ishibe-Murakami, S. Yamazoe, J. K. Chen, D. J. Patel and O. Gozani (2012). "The BAH domain of ORC1 links H4K20me2 to DNA replication licensing and Meier-Gorlin syndrome." Nature 484(7392): 115-119.
L'hôte, D., P. Laissue, C. Serres, X. Montagutelli, R. A. Veitia and D. Vaiman (2010). "Interspecific resources: a major tool for quantitative trait locus cloning and speciation research." Bioessays 32(2): 132-142.
Labarta, J., A. Ferrandez, M. Sanjuan, E. Cancer and E. Mayayo (1994). "20. Sindrome de Turner: Talla final espontanea y tras diferentes tratamientos." Anales Espanoles de Pediatria-Suplemento(58): 75.
Lahiri, S. and N. Davies (2003). "Cockayne's Syndrome: case report of a successful pregnancy." BJOG: An International Journal of Obstetrics & Gynaecology 110(9): 871-872.
Laissue, P. (2015). "Aetiological coding sequence variants in non-syndromic premature ovarian failure: From genetic linkage analysis to next generation sequencing." Molecular and cellular endocrinology 411: 243-257.
Laissue, P., G. Burgio, D. l'Hote, G. Renault, C. Marchiol-Fournigault, D. Fradelizi, M. Fellous, C. Serres, X. Montagutelli and P. Monget (2009). "Identification of Quantitative Trait Loci responsible for embryonic 191 lethality in mice assessed by ultrasonography." International Journal of Developmental Biology 53(4): 623-629.
Laissue, P., S. Copelli, I. Bergada, C. Bergada, G. Barrio, S. Karaboga, J. M. Wurtz, M. Fellous, E. Lalli and R. A. Veitia (2006). "Partial defects in transcriptional activity of two novel DAX-1 mutations in childhood-onset adrenal hypoplasia congenita." Clinical endocrinology 65(5): 681-686.
Laissue, P., D. L’hôte, C. Serres and D. Vaiman (2009). "Mouse models for identifying genes modulating fertility parameters." animal 3(01): 55-71.
Laissue, P., B. Lakhal, B. A. Benayoun, A. Dipietromaria, R. Braham, H. Elghezal, P. Philibert, A. Saâd, C. Sultan and M. Fellous (2009). "Functional evidence implicating FOXL2 in non-syndromic premature ovarian failure and in the regulation of the transcription factor OSR2." Journal of medical genetics 46(7): 455-457.
Laissue, P., B. Lakhal, M. Vatin, F. Batista, G. Burgio, E. Mercier, E. Dos Santos, C. Buffat, D. C. Sierra-Diaz and G. Renault (2016). "Association of FOXD1 variants with adverse pregnancy outcomes in mice and humans." Open Biology 6(10): 160109.
Laissue, P., G. Vinci, R. A. Veitia and M. Fellous (2008). "Recent advances in the study of genes involved in non-syndromic premature ovarian failure." Molecular and cellular endocrinology 282(1): 101-111.
Lakhal, B., P. Laissue, R. Braham, H. Elghezal, A. Saâd, M. Fellous and R. A. Veitia (2009). "A novel BMP15 variant, potentially affecting the signal peptide, in a familial case of premature ovarian failure." Clinical endocrinology 71(5): 752-753.
Lakhal, B., P. Laissue, R. Braham, H. Elghezal, A. Saâd, M. Fellous and R. A. Veitia (2010). "BMP15 and premature ovarian failure: causal mutations, variants, polymorphisms?" Clinical endocrinology 72(3): 425-426.
Lakhal, B., P. Laissue, H. Elghezal and M. Fellous (2008). "Genetic analysis of premature ovarian failure: role of forkhead and TGF-beta genes." Gynecologie, obstetrique & fertilite 36(9): 862-871.
Lambotte, C., G. Dony and F. Bonnet (1975). "Seckel syndrome: bird-headed dwarfism." Acta paediatrica Belgica 29(2): 79-82.
Lampl, M., J. D. Veldhuis and M. L. Johnson (1992). "Saltation and stasis: a model of human growth." Science 258(5083): 801-803.
Langer, L. O., P. A. Baumann and R. J. Gorlin (1968). "Achondroplasia Clinical Radiologic Features with Comment on Genetic Implications." Clinical pediatrics 7(8): 474-485.
Langman, J. and J. Leland (1975). Medical embryology: human development, normal and abnormal, Williams & Wilkins Baltimore.
Laron, Z. (2001). "Insulin-like growth factor 1 (IGF-1): a growth hormone." Molecular Pathology 54(5): 311.
Lee, D., S. Portnoy, P. Hill, C. Gillberg and M. Patton (2005). "Psychological profile of children with Noonan syndrome." Developmental Medicine & Child Neurology 47(1): 35-38.
Lee, R. W., S. K. Conley, A. Gropman, F. D. Porter and E. H. Baker (2013). "Brain magnetic resonance imaging findings in smith–lemli–opitz syndrome." American Journal of Medical Genetics Part A 161(10): 2407-2419.
Leevers, S. J. and H. McNeill (2005). "Controlling the size of organs and organisms." Current opinion in cell biology 17(6): 604-609.
Lemyre, E., E. M. Azouz, A. S. Teebi, P. Glanc and M.-F. Chen (1999). "Bone dysplasia series. Achondroplasia, hypochondroplasia and thanatophoric dysplasia: review and update." Canadian Association of Radiologists journal= Journal l'Association canadienne des radiologistes 50(3): 185-197.
Leutenegger, A.-L., A. Labalme, E. Génin, A. Toutain, E. Steichen, F. Clerget-Darpoux and P. Edery (2006). "Using genomic inbreeding coefficient estimates for homozygosity mapping of rare recessive traits: application to Taybi-Linder syndrome." The American journal of human genetics 79(1): 62-66.
Levine, A. and R. Durbin (2001). "A computational scan for U12-dependent introns in the human genome sequence." Nucleic Acids Research 29(19): 4006-4013.
Lewis, T. S., P. S. Shapiro and N. G. Ahn (1998). "Signal transduction through MAP kinase cascades." Advances in cancer research 74: 49-114.
Li, Q., D. Hansen, A. Killilea, H. C. Joshi, R. Palazzo and R. Balczon (2001). "Kendrin/pericentrin-B, a centrosome protein with homology to pericentrin that complexes with PCM-1." Journal of cell science 114(4): 797-809.
Li, Y., T. Li, T. Kahveci and J. Fortes (2005). Workload characterization of bioinformatics applications. Modeling, Analysis, and Simulation of Computer and Telecommunication Systems, 2005. 13th IEEE International Symposium on, IEEE.
Lim, K. and H. Wong (1973). "Ocular anomalies in Seckel's syndrome." Australian and New Zealand journal of medicine 3(5): 520-522.
Lin, H. J., G. Y. Sue, C. D. Berkowitz, J. A. Brasel and R. S. Lachman (1995). "Microdontia with severe microcephaly and short stature in two brothers: osteodysplastic primordial dwarfism with dental findings." American journal of medical genetics 58(2): 136-142.
Lippe, B., R. Rosenfeld and M. Grumbach (1990). "Physical and anatomical abnormalities in Turner syndrome." EN: Rosenfeld RG, Grumbavch MM. Turner syndrome. Nueva York: Marcel Dekker: 183-196.
Liu, X., D. Zhang, W. Shuo, Y. Zhao, R. Wang and J. Zhao (2012). "Long term outcome after conservative and surgical treatment of haemorrhagic moyamoya disease." Journal of Neurology, Neurosurgery & Psychiatry: jnnp-2012-302236.
Loeys, B. L., M. M. Lemmerling, C. E. Van Mol and J. G. Leroy (1999). "The Meier-Gorlin syndrome, or ear–patella–short stature syndrome, in sibs." American journal of medical genetics 84(1): 61-67.
Löffler, H., A. Fechter, M. Matuszewska, R. Saffrich, M. Mistrik, J. Marhold, C. Hornung, F. Westermann, J. Bartek and A. Krämer (2011). "Cep63 recruits Cdk1 to the centrosome: implications for regulation of mitotic entry, centrosome amplification, and genome maintenance." Cancer research 71(6): 2129-2139.
Lohmann, K. and C. Klein (2014). "Next generation sequencing and the future of genetic diagnosis." Neurotherapeutics 11(4): 699-707.
Lowry, R. and J. M. Opitz (1982). "Early onset of Cockayne syndrome." American journal of medical genetics 13(2): 209-210.
Lund, A., C. Mølgaard, J. Müller and F. Skovby (1999). "Bone mineral content and collagen defects in osteogenesis imperfecta." Acta Paediatrica 88(10): 1083-1088.
Maas, N., B. Thienpont, J. Vermeesch and J.-P. Fryns (2006). "Facial asymmetry, cardiovascular anomalies and adducted thumbs as unusual symptoms in Dubowitz syndrome: a microdeletion/duplication in 13q." Genetic counseling (Geneva, Switzerland) 17(4): 477.
Mahmood, S., W. Ahmad and M. J. Hassan (2011). "Autosomal recessive primary microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum." Orphanet J Rare Dis 6(1): 39.
Maitinsky, S. P. (1964). Vogelköpfiger Zwergwuchs: Bericht über drei neue Fälle.
Majewski, F., T. Goecke and J. M. Opitz (1982). "Studies of microcephalic primordial dwarfism I: approach to a delineation of the Seckel syndrome." American journal of medical genetics 12(1): 7-21.
Majewski, F. and T. O. Goecke (1998). "Microcephalic osteodysplastic primordial dwarfism type II: report of three cases and review." American journal of medical genetics 80(1): 25-31.
Majewski, F., R. Michaelis, K. Moosmann and J. Bierich (1975). "A rare type of low birthweight dwarfism: The Dubowitz syndrome." Zeitschrift für Kinderheilkunde 120(4): 283-292.
Majewski, F., M. Ranke, A. Schinzel and J. M. Opitz (1982). "Studies of microcephalic primordial dwarfism II: the osteodysplastic type II of primordial dwarfism." American journal of medical genetics 12(1): 23-35.
Majewski, F. and J. Spranger (1976). "Case report 49." Syndrome Identification 4(2): 17-21.
Majewski, F., M. Stoeckenius, H. Kemperdick and J. M. Opitz (1982). "Studies of microcephalic primordial dwarfism III: an intrauterine dwarf with platyspondyly and anomalies of pelvis and clavicles—osteodysplastic primordial dwarfism type III." American journal of medical genetics 12(1): 37-42.
Maldergem, L., Y. Gillerot, M. Godhaird, E. Nemec and L. Koulischer (1990). "Primordial osteodysplastic dwarfism type I in association with corneal clouding: evidence for autosomal recessive inheritance." Clinical genetics 38(5): 359-361.
Mallery, D. L., B. Tanganelli, S. Colella, H. Steingrimsdottir, A. J. van Gool, C. Troelstra, M. Stefanini and A. R. Lehmann (1998). "Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome." The American Journal of Human Genetics 62(1): 77-85.
Mann, T. and A. Russell (1959). "Study of a microcephalic midget of extreme type." Proceedings of the Royal Society of Medicine 52: 1024.
Marcus, K., C. Sweep, I. van der Bürgt and C. Noordam (2008). "Impaired Sertoli cell function in males diagnosed with Noonan syndrome." Journal of Pediatric Endocrinology and Metabolism 21(11): 1079-1084.
Mardis, E. R. (2008). "Next-generation DNA sequencing methods." Annu. Rev. Genomics Hum. Genet. 9: 387-402.
Martínez-Barrera, L., C. García-Delgado, C. Manzano-Sierra and V. Morán-Barroso (2013). "Left cerebral hemisphere and ventricular system abnormalities in a Mexican Meier Gorlin syndrome patient: widening the clinical spectrum." Genetic counseling (Geneva, Switzerland) 25(2): 189-195.
Martínez-Frías, M. L., X. Egüés, A. Puras, J. Hualde, C. de Frutos, E. Bermejo, M. Nieto and S. Martínez (2011). "Thanatophoric dysplasia type II with encephalocele and semilobar holoprosencephaly: insights into its pathogenesis." American Journal of Medical Genetics Part A 155(1): 197-202.
Mascher, M., S. Wu, P. S. Amand, N. Stein and J. Poland (2013). "Application of genotyping-by-sequencing on semiconductor sequencing platforms: a comparison of genetic and reference-based marker ordering in barley." PLoS One 8(10).
Masuno, M., K. Imaizumi, G. Nishimura, K. Kurosawa, Y. Makita, Y. Shimazaki and Y. Kuroki (1995). "Osteodysplastic primordial dwarfism: a case with features of type II." Clinical dysmorphology 4(1): 57-62.
Matsuoka, S., B. A. Ballif, A. Smogorzewska, E. R. McDonald, K. E. Hurov, J. Luo, C. E. Bakalarski, Z. Zhao, N. Solimini and Y. Lerenthal (2007). "ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage." Science 316(5828): 1160-1166.
Mayr, E., E. Mayr, E. Mayr and E. Mayr (1963). Animal species and evolution, Belknap Press of Harvard University Press Cambridge, Massachusetts.
Mazzanti, L., E. Cacciari and I. S. G. f. T. Syndrome (1998). "Congenital heart disease in patients with Turner’s syndrome." The Journal of pediatrics 133(5): 688-692.
McKusick, V. A. (1955). "Primordial dwarfism and ectopia lentis." American journal of human genetics 7(2): 189.
McKusick, V. A. (1972). Heritable disorders of connective tissue, Cv Mosby.
McKusick, V. A., M. Mahloudji, M. H. Abbott, R. Lindenberg and D. Kepas (1967). "Seckel's Bird-Headed Dwarfism*." New England Journal of Medicine 277(6): 279-286.
Meier, Z. and M. Rothschild (1959). "Case of arthrogryposis multiplex congenita with mandibulofacial dysostosis (Franceschetti syndrome)." Helvetica paediatrica acta 14(2): 213.
Meinecke, P. and E. Passarge (1991). "Microcephalic osteodysplastic primordial dwarfism type I/III in sibs." Journal of medical genetics 28(11): 795-800.
Meinecke, P. and E. Passarge (1992). "Reply to Dr. Taybi." American Journal of Medical Genetics 43(3): 629-629.
Meinecke, P., E. Schaefer and H. R. Wiedemann (1991). "Microcephalic osteodysplastic primordial dwarfism: Further evidence for identity of the so-called types I and III." American journal of medical genetics 39(2): 232-236.
Meira, L. B., J. M. Graham, C. R. Greenberg, D. B. Busch, A. T. Doughty, D. W. Ziffer, D. M. Coleman, I. Savre-Train and E. C. Friedberg (2000). "Manitoba aboriginal kindred with original cerebro-oculo-facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene." The American Journal of Human Genetics 66(4): 1221-1228.
Melmed, S., K. S. Polonsky, P. R. Larsen and H. M. Kronenberg (2011). Williams textbook of endocrinology: Expert consult, Elsevier Health Sciences.
Meloche, S. and J. Pouyssegur (2007). "The ERK1/2 mitogen-activated protein kinase pathway as a master regulator of the G1-to S-phase transition." Oncogene 26(22): 3227-3239.
Méndez, J., X. H. Zou-Yang, S.-Y. Kim, M. Hidaka, W. P. Tansey and B. Stillman (2002). "Human origin recognition complex large subunit is degraded by ubiquitin-mediated proteolysis after initiation of DNA replication." Molecular cell 9(3): 481-491.
Merriman, B., I. Torrent, J. M. Rothberg and D. Team (2012). "Progress in ion torrent semiconductor chip based sequencing." Electrophoresis 33(23): 3397-3417.
Metzker, M. L. (2010). "Sequencing technologies—the next generation." Nature reviews genetics 11(1): 31-46.
Mezquita, C. (2011). Fisiología médica: del razonamiento fisiológico al razonamiento clinico, Editorial Médica Panamericana.
Michałkiewicz, J., C. Barth, K. Chrzanowska, H. Gregorek, M. Syczewska, C. Weemaes, K. Madaliński and J. Stachowski (2003). "Abnormalities in the T and NK lymphocyte phenotype in patients with Nijmegen breakage syndrome." Clinical & Experimental Immunology 134(3): 482-490.
Milani, D., F. M. Manzoni, L. Pezzani, P. Ajmone, C. Gervasini, F. Menni and S. Esposito (2015). "Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management." Italian journal of pediatrics(1): 4.
Miller, S. P., M.-E. Dilenge, K. Meagher-Villemure, A. M. O’Gorman and M. I. Shevell (1998). "Infantile epileptic encephalopathy (Ohtahara syndrome) and migrational disorder." Pediatric neurology 19(1): 50-54.
Minoche, A. E., J. C. Dohm and H. Himmelbauer (2011). "Evaluation of genomic high-throughput sequencing data generated on Illumina HiSeq and genome analyzer systems." Genome Biol 12(11): R112.
Mitropoulos, K., H. Al Jaibeji, D. A. Forero, P. Laissue, A. Wonkam, C. Lopez-Correa, Z. Mohamed, W. Chantratita, M. T. M. Lee and A. Llerena (2015). "Success stories in genomic medicine from resource-limited countries." Human genomics 9(1): 11.
Miyoshi, K., M. Asanuma, I. Miyazaki, F. J. Diaz-Corrales, T. Katayama, M. Tohyama and N. Ogawa (2004). "DISC1 localizes to the centrosome by binding to kendrin." Biochemical and biophysical research communications 317(4): 1195-1199.
Moore, K. L., T. V. N. Persaud and M. G. Torchia (2007). Before We Are Born: Essentials of Embryology and Birth Defects (with Student Consult Online Access), Elsevier Health Sciences.
Mühlhans, J., J. H. Brandstätter and A. Gießl (2012). The centrosomal protein pericentrin identified at the basal body complex of the connecting cilium in mouse photoreceptors, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU).
Mühlhans, J. and A. Gießl (2012). "Pericentrin in health and disease." Communicative & Integrative Biology 5(4).
Müller, E., D. Dunstheimer, J. Klammt, D. Friebe, W. Kiess, J. Kratzsch, T. Kruis, S. Laue, R. Pfäffle and T. Wallborn (2012). "Clinical and functional characterization of a patient carrying a compound heterozygous pericentrin mutation and a heterozygous IGF1 receptor mutation."
Mullis, P.-E. (2011). "Genetics of GHRH, GHRH-receptor, GH and GH-receptor: its impact on pharmacogenetics." Best Practice & Research Clinical Endocrinology & Metabolism 25(1): 25-41.
Mullis, P. E. (2005). "Genetic control of growth." European Journal of Endocrinology 152(1): 11-31.
Muñoz-Hoyos, A., A. Molina-Carballo, M. Augustin-Morales, F. Contreras-Chova, A. Naranjo-Gómez, F. Justicia-Martínez and J. Uberos (2011). "Psychosocial dwarfism: psychopathological aspects and putative neuroendocrine markers." Psychiatry research 188(1): 96-101.
Murphy, K. M., K. D. Berg and J. R. Eshleman (2005). "Sequencing of genomic DNA by combined amplification and cycle sequencing reaction." Clinical chemistry 51(1): 35-39.
Mziray-Andrew, C. H. and T. A. Sentongo (2009). "Nutritional deficiencies in intestinal failure." Pediatric Clinics of North America 56(5): 1185-1200.
Nadjari, M., S. J. Fasouliotis, I. Ariel, A. Raas-Rothschild, J. Bar-Ziv and U. Elchalal (2000). "Ultrasonographic prenatal diagnosis of microcephalic osteodysplastic primordial dwarfism types I/III." Prenatal diagnosis 20(8): 666-669.
Nagy, R., H. Wang, B. Albrecht, D. Wieczorek, G. Gillessen-Kaesbach, E. Haan, P. Meinecke, A. de la Chapelle and J. A. Westman (2012). "Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene." Clinical genetics 82(2): 140-146.
Nance, M. A. and S. A. Berry (1992). "Cockayne syndrome: review of 140 cases." American journal of medical genetics 42(1): 68-84.
Neto-Silva, R. M., S. de Beco and L. A. Johnston (2010). "Evidence for a growth-stabilizing regulatory feedback mechanism between Myc and Yorkie, the Drosophila homolog of Yap." Developmental cell 19(4): 507-520.
Neumann, B., T. Walter, J.-K. Hériché, J. Bulkescher, H. Erfle, C. Conrad, P. Rogers, I. Poser, M. Held and U. Liebel (2010). "Phenotypic profiling of the human genome by time-lapse microscopy reveals cell division genes." Nature 464(7289): 721-727.
Niño, M. Y., H. E. Mateus, D. J. Fonseca, M. A. Kroos, S. Y. Ospina, J. F. Mejía, J. A. Uribe, A. J. Reuser and P. Laissue (2012). Identification and functional characterization of GAA mutations in Colombian patients affected by Pompe disease. JIMD Reports-Case and Research Reports, 2012/4, Springer: 39-48.
Nishimura, G., T. Hasegawa, M. Fujino, N. Hori and Y. Tomita (2003). "Microcephalic osteodysplastic primordial short stature type II with cafe-au-lait spots and moyamoya disease." American Journal of Medical Genetics Part A 117(3): 299-301.
Noonan, J. A. (2005). "Noonan syndrome and related disorders." Progress in Pediatric cardiology 20(2): 177-185.
Noonan, J. A., R. Raaijmakers and B. Hall (2003). "Adult height in Noonan syndrome." American Journal of Medical Genetics Part A 123(1): 68-71.
Nowaczyk, M. and J. Waye (2001). "The Smith–Lemli–Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology." Clinical genetics 59(6): 375-386.
Nowaczyk, M. J., S. Zeesman, J. S. Waye and J. D. Douketis (2004). "Incidence of Smith-Lemli-Opitz syndrome in Canada: results of three-year population surveillance." The Journal of pediatrics 145(4): 530-535.
Nozza, J. M. and C. P. Rodda (2001). "Vitamin D deficiency in mothers of infants with rickets." The Medical journal of Australia 175(5): 253-255.
Nurse, P. (1975). "Genetic control of cell size at cell division in yeast." Nature 256: 547-551.
Nurse, P. (1985). "The genetic control of cell volume." The evolution of genome size: 185-196.
O’Driscoll, M. and P. A. Jeggo (2008). "The role of the DNA damage response pathways in brain development and microcephaly: insight from human disorders." DNA repair 7(7): 1039-1050.
Oberklaid, F., D. Danks, F. Jensen, L. Stace and S. Rosshandler (1979). "Achondroplasia and hypochondroplasia. Comments on frequency, mutation rate, and radiological features in skull and spine." Journal of medical genetics 16(2): 140-146.
Ogi, T., S. Walker, T. Stiff, E. Hobson, S. Limsirichaikul, G. Carpenter, K. Prescott, M. Suri, P. J. Byrd and M. Matsuse (2012). "Identification of the first ATRIP–deficient patient and novel mutations in ATR define a clinical spectrum for ATR–ATRIP Seckel syndrome."
Ohtani, K., J. DeGregori, G. Leone, D. R. Herendeen, T. J. Kelly and J. R. Nevins (1996). "Expression of the HsOrc1 gene, a human ORC1 homolog, is regulated by cell proliferation via the E2F transcription factor." Molecular and Cellular Biology 16(12): 6977-6984.
Ohtsubo, M., S. i. Yasunaga, Y. Ohno, M. Tsumura, S. Okada, N. Ishikawa, K. Shirao, A. Kikuchi, H. Nishitani and M. Kobayashi (2008). "Polycomb-group complex 1 acts as an E3 ubiquitin ligase for Geminin to sustain hematopoietic stem cell activity." Proceedings of the National Academy of Sciences 105(30): 10396-10401.
Ojeda, D., B. Lakhal, D. J. Fonseca, R. Braham, H. Landolsi, H. E. Mateus, C. M. Restrepo, H. Elghezal, A. Saâd and P. Laissue (2011). "Sequence analysis of the CDKN1B gene in patients with premature ovarian failure reveals a novel mutation potentially related to the phenotype." Fertility and sterility 95(8): 2658-2660. e2651.
Olney, R. C., H. l. Bükülmez, C. F. Bartels, T. C. Prickett, E. A. Espiner, L. R. Potter and M. L. Warman (2006). "Heterozygous mutations in natriuretic peptide receptor-B (NPR2) are associated with short stature." The Journal of Clinical Endocrinology & Metabolism 91(4): 1229-1232.
Opitz, J. M. (2012). "2011 William Allan Award: Development and Evolution." The American Journal of Human Genetics 90(3): 392-404.
Opitz, J. M. and J. F. Reynolds (1985). "The Brachmann-de Lange syndrome." American journal of medical genetics 22(1): 89-102.
Orrison, W. W., E. R. Schnitzler, R. W. Chun and J. M. Optiz (1980). "The Dubowitz syndrome: further observations." American journal of medical genetics 7(2): 155-170.
Ortega-Recalde, O., D. J. Fonseca, L. C. Patiño, J. J. Atuesta, C. Rivera-Nieto, C. M. Restrepo, H. E. Mateus, M. S. van der Knaap and P. Laissue (2013). "A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations." Mitochondrion 13(6): 749-754.
Ortega-Recalde, O., J. I. Vergara, D. J. Fonseca, X. Ríos, H. Mosquera, O. M. Bermúdez, C. L. Medina, C. I. Vargas, A. E. Pallares and C. M. Restrepo (2013). "Whole-exome sequencing enables rapid determination of xeroderma pigmentosum molecular etiology." PLoS One 8(6): e64692.
Ortega-Recalde, O., O. Beltrán, J. Gálvez, A. Palma-Montero, C. Restrepo, H. Mateus and P. Laissue (2015). "Biallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disability." Clinical genetics 88(4): e1-e3.
Ortega-Recalde, O., M. Moreno, J. Vergara, D. Fonseca, R. Rojas, H. Mosquera, C. Medina, C. Restrepo and P. Laissue (2015). "A novel TGM1 mutation, leading to multiple splicing rearrangements, is associated with autosomal recessive congenital ichthyosis." Clinical and experimental dermatology 40(7): 757-760.
Ortega-Recalde, O., D. Silgado, C. Fetiva, D. Fonseca and P. Laissue (2016). "Transcriptomic analysis of skin in a case of ichthyosis Curth–Macklin caused by a KRT1 mutation." British Journal of Dermatology 175(6): 1372-1375.
Otten, B. and C. Noordam (2009). "Growth in Noonan syndrome." Hormone research 72: 31-35. Otto, T. D. (2011). "Real-time sequencing." Nature Reviews Microbiology 9(9).
Ou, Y. Y., G. J. Mack, M. Zhang and J. B. Rattner (2002). "CEP110 and ninein are located in a specific domain of the centrosome associated with centrosome maturation." Journal of Cell Science 115(9): 1825-1835.
Ouzounian, J., G. Hernandez, L. Korst, M. Montoro, L. Battista, C. Walden and R. Lee (2011). "Pre-pregnancy weight and excess weight gain are risk factors for macrosomia in women with gestational diabetes." Journal of Perinatology 31(11): 717-721.
Pagon, R. A. (1987). "Diagnostic approach to the newborn with ambiguous genitalia." Pediatric Clinics of North America 34(4): 1019-1031.
Pagon, R. A., M. P. Adam, H. H. Ardinger, T. D. Bird, C. R. Dolan, C.-T. Fong, R. J. Smith, K. Stephens, L. Bonafé and L. M. Crettol (2013). "Achondrogenesis Type 1B."
Pagon, R. A., M. P. Adam, H. H. Ardinger, T. D. Bird, C. R. Dolan, C.-T. Fong, R. J. Smith, K. Stephens, L. Bonafé and L. Mittaz-Crettol (2013). "Diastrophic Dysplasia."
Pagon, R. A., M. P. Adam, H. H. Ardinger, T. D. Bird, C. R. Dolan, C.-T. Fong, R. J. Smith, K. Stephens, R. Varon and I. Demuth (2014). "Nijmegen Breakage Syndrome."
Pagon, R. A., M. P. Adam, H. H. Ardinger, T. D. Bird, C. R. Dolan, C.-T. Fong, R. J. Smith, K. Stephens, A. Verloes and S. Drunat (2013). "Primary autosomal recessive microcephalies and seckel syndrome spectrum disorders."
Palmiter, R. D., G. Norstedt, R. E. Gelinas, R. E. Hammer and R. L. Brinster (1983). "Metallothionein-human GH fusion genes stimulate growth of mice." Science 222(4625): 809-814.
Pan, D. (2010). "The hippo signaling pathway in development and cancer." Developmental cell 19(4): 491-505.
Parrish, J., R. Wilroy and R. B. Lowry (1980). "The Dubowitz syndrome: The psychological status of ten cases at follow-up." American journal of medical genetics 6(1): 3-8.
Pascual, J. C., I. Betlloch, J. Bañuls and G. Vergara (2005). "What syndrome is this?" Pediatric dermatology 22(5): 480-481.
Pasquino, A. and G. Iannaccone (1978). "Il nanismo nanocefalico o nanismo “a testa di uccello”(cosiddetta “sindrome di Seckel”). Revisione critica della letteratura." Prog Med (Roma) 34(1021): 34-45.
Passemard, S., L. Titomanlio, M. Elmaleh, A. Afenjar, J.-L. Alessandri, G. Andria, T. B. de Villemeur, O. Boespflug-Tanguy, L. Burglen and E. Del Giudice (2009). "Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations." Neurology 73(12): 962-969.
Passos-Bueno, M., W. Wilcox, E. Jabs, A. Sertie, L. Alonso and H. Kitoh (1999). "Clinical spectrum of fibroblast growth factor receptor mutations." Human mutation 14(2): 115-125.
Paterson, C. R., S. McAllion and J. L. Stellman (1984). "Osteogenesis imperfecta after the menopause." New England Journal of Medicine 310(26): 1694-1696.
Patiño, L. C., R. Battu, O. Ortega-Recalde, J. Nallathambi, V. R. Anandula, U. Renukaradhya and P. Laissue (2014). "Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis." PloS one 9(10): e109576.
Patiño, L. C., D. Silgado and P. Laissue (2017). "A potential functional association between mutant BMPR2 and primary ovarian insufficiency." Systems Biology in Reproductive Medicine: 1-5.
P. Laissue and C. A. Harrison (2017). "BMP15 Mutations Associated With Primary Ovarian Insufficiency Reduce Expression, Activity, or Synergy With GDF9." The Journal of clinical endocrinology and metabolism 102(3): 1009.
Patterson, K., K. E. Toomey and R. S. Chandra (1983). "Hirschsprung disease in a 46, XY phenotypic infant girl with Smith-Lemli-Opitz syndrome." The Journal of pediatrics 103(3): 425-427.
Pattison, L., Y. J. Crow, V. J. Deeble, A. P. Jackson, H. Jafri, Y. Rashid, E. Roberts and C. G. Woods (2000). "A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31." The American Journal of Human Genetics 67(6): 1578-1580.
Pauli, R. (1993). "Achondroplasia. 1998 Oct 12 [Updated 2012 Feb 16]." GeneReviews™[Internet]. Seattle (WA): University of Washington, Seattle.
Payet, G. (1975). "Nanisme et hyperlaxité dysmorphie faciale et luxations multiples: syndrome de Larsen." Arch Fr Pediatr 32: 601-608.
Pearson, G., F. Robinson, T. Beers Gibson, B.-e. Xu, M. Karandikar, K. Berman and M. H. Cobb (2001). "Mitogen-activated protein (MAP) kinase pathways: regulation and physiological functions 1." Endocrine reviews 22(2): 153-183.
Pennisi, E. (2010). "Semiconductors inspire new sequencing technologies." Science 327(5970): 1190-1190.
Perkel, J. (2011). "Making contact with sequencing's fourth generation." BioTechniques 50(2): 93-95.
Perry, L. D., F. Robertson and V. Ganesan (2013). "Screening for cerebrovascular disease in microcephalic osteodysplastic primordial dwarfism type II (MOPD II): an evidence-based proposal." Pediatric neurology 48(4): 294-298.
Perry, R., C. Farquharson and S. Ahmed (2008). "The role of sex steroids in controlling pubertal growth." Clinical endocrinology 68(1): 4-15.
Person, A. D., S. Beiraghi, C. M. Sieben, S. Hermanson, A. N. Neumann, M. E. Robu, J. R. Schleiffarth, C. J. Billington, H. Van Bokhoven and J. M. Hoogeboom (2010). "WNT5A mutations in patients with autosomal dominant Robinow syndrome." Developmental dynamics 239(1): 327-337.
Piane, M., M. Della Monica, G. Piatelli, P. Lulli, F. Lonardo, L. Chessa and G. Scarano (2009). "Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel 206 syndrome: report of a novel mutation of the PCNT gene." American Journal of Medical Genetics Part A 149(11): 2452-2456.
Picq, S., S. Santoni, T. Lacombe, M. Latreille, A. Weber, M. Ardisson, S. Ivorra, D. Maghradze, R. Arroyo-Garcia, P. Chatelet, P. This, J. F. Terral and R. Bacilieri (2014). "A small XY chromosomal region explains sex determination in wild dioecious V. vinifera and the reversal to hermaphroditism in domesticated grapevines." BMC Plant Biol 14: 229.
Pichon, B., S. Vankerckhove, G. Bourrouillou, L. Duprez and M. J. Abramowicz (2004). "A translocation breakpoint disrupts the ASPM gene in a patient with primary microcephaly." European journal of human genetics 12(5): 419-421.
Pierce, M. J. and R. P. Morse (2012). "The neurologic findings in Taybi–Linder syndrome (MOPD I/III): Case report and review of the literature." American journal of medical genetics Part A 158(3): 606-610.
Pierpont, E. I., S. E. Weismer, A. E. Roberts, E. Tworog-Dube, M. E. Pierpont, N. J. Mendelsohn and M. S. Seidenberg (2010). "The language phenotype of children and adolescents with Noonan syndrome." Journal of Speech, Language, and Hearing Research 53(4): 917-932.
Pliszka, S. R., T. L. Matthews, K. J. Braslow and M. A. Watson (2006). "Comparative effects of methylphenidate and mixed salts amphetamine on height and weight in children with attention-deficit/hyperactivity disorder." Journal of the American Academy of Child & Adolescent Psychiatry 45(5): 520-526.
Ponting, C. and A. P. Jackson (2005). "Evolution of primary microcephaly genes and the enlargement of primate brains." Current opinion in genetics & development 15(3): 241-248.
Poznanski, A., G. Iannaccone, A. Pasquino and B. Boscherini (1983). "Radiological findings in the hand in Seckel syndrome (bird-headed dwarfism)." Pediatric radiology 13(1): 19-24.
Prada, C. F. and P. Laissue (2014). "A high resolution map of mammalian X chromosome fragile regions assessed by large-scale comparative genomics." Mammalian genome 25(11-12): 618-635.
Prasanth, S. G., K. V. Prasanth and B. Stillman (2002). "Orc6 involved in DNA replication, chromosome segregation, and cytokinesis." Science 297(5583): 1026-1031.
Price, S., R. Stanhope, C. Garrett, M. Preece and R. Trembath (1999). "The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria." Journal of medical genetics 36(11): 837-842.
Ptacek, L. J., J. M. Opitz, D. W. Smith, T. Gerritsen and H. A. Waisman (1963). "The Cornelia de Lange syndrome." The Journal of pediatrics 63(5): 1000-1020.
Purohit, A., S. H. Tynan, R. Vallee and S. J. Doxsey (1999). "Direct interaction of pericentrin with cytoplasmic dynein light intermediate chain contributes to mitotic spindle organization." The Journal of cell biology 147(3): 481-492.
Quintana, D. G., Z.-h. Hou, K. C. Thome, M. Hendricks, P. Saha and A. Dutta (1997). "Identification of HsORC4, a member of the human origin of replication recognition complex." Journal of Biological Chemistry 272(45): 28247-28251.
Qvist, P., P. Huertas, S. Jimeno, M. Nyegaard, M. J. Hassan, S. P. Jackson and A. D. Børglum (2011). "CtIP mutations cause Seckel and Jawad syndromes." PLoS Genet 7(10): e1002310.
Raff, M. C. (1992). "Social controls on cell survival and cell death."
Ramírez, C. E. H., F. Barros, J. B. Conde, L. Castro-Feijóo, P. C. Rodríguez and M. P. Arias (2013). "Rev Esp Endocrinol Pediatr." Rev Esp Endocrinol Pediatr 4(1): 68-86.
Ranke, M. B. and P. Saenger (2001). "Turner's syndrome." The Lancet 358(9278): 309-314.
Rao, E., B. Weiss, M. Fukami, A. Rump, B. Niesler, A. Mertz, K. Muroya, G. Binder, S. Kirsch and M. Winkelmann (1997). "Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome." Nature genetics 16(1): 54-63.
Rauch, A. (2011). "The shortest of the short: pericentrin mutations and beyond." Best Practice & Research Clinical Endocrinology & Metabolism 25(1): 125-130.
Rauch, A., C. T. Thiel, D. Schindler, U. Wick, Y. J. Crow, A. B. Ekici, A. J. van Essen, T. O. Goecke, L. Al-Gazali and K. H. Chrzanowska (2008). "Mutations in the pericentrin (PCNT) gene cause primordial dwarfism." Science 319(5864): 816-819.
Rauch, F. and F. H. Glorieux (2004). "Osteogenesis imperfecta." The Lancet 363(9418): 1377-1385.
Razzaque, M. A., T. Nishizawa, Y. Komoike, H. Yagi, M. Furutani, R. Amo, M. Kamisago, K. Momma, H. Katayama and M. Nakagawa (2007). "Germline gain-of-function mutations in RAF1 cause Noonan syndrome." Nature genetics 39(8): 1013-1017.
Remes, V., P. Tervahartiala, I. Helenius and J. Peltonen (2002). "Magnetic resonance imaging analysis of hip joint development in patients with diastrophic dysplasia." Journal of pediatric orthopaedics 22(2): 212-216.
Resnik, R. (2002). "Intrauterine growth restriction." Obstetrics & Gynecology 99(3): 490-496.
Rimoin, D. L., J. M. Connor, R. E. Pyeritz and B. R. Korf (2007). Emery and Rimoin's principles and practice of medical genetics, Churchill Livingstone Elsevier.
Rimoin, D. L., R. E. Pyeritz and B. Korf (2013). Emery and Rimoin's principles and practice of medical genetics, Academic Press.
Rischbieth, H. and A. Barrington (1912). "Dwarfism, Treasury of Human Inheritance." Univ. of London, Francis Galton Laboratory for National Eugenics, Memoir 15.
Roberts, A. E., J. E. Allanson, M. Tartaglia and B. D. Gelb (2013). "Noonan syndrome." The Lancet 381(9863): 333-342.
Robinow, M., F. N. Silverman and H. D. Smith (1969). "A newly recognized dwarfing syndrome." American journal of diseases of children 117(6): 645-651.
Robinson, P. D., W. Högler, M. E. Craig, C. F. Verge, J. L. Walker, A. C. Piper, H. J. Woodhead, C. T. Cowell and G. R. Ambler (2006). "The re-emerging burden of rickets: a decade of experience from Sydney." Archives of disease in childhood 91(7): 564-568.
Roifman, M., H. Brunner, J. Lohr, J. Mazzeu and D. Chitayat (1993). "Autosomal Dominant Robinow Syndrome."
Root, A. W. and F. B. Diamond Jr (2007). "Overgrowth syndromes: evaluation and management of the child with excessive linear growth." Pediatric Endocrinology, ed 5: 163-194.
Rosenberg, M. J., R. Agarwala, G. Bouffard, J. Davis, G. Fiermonte, M. S. Hilliard, T. Koch, L. M. Kalikin, I. Makalowska and D. H. Morton (2002). "Mutant deoxynucleotide carrier is associated with congenital microcephaly." Nature genetics 32(1): 175-179.
Rosenbloom, A. L. (2007). "Fisiología del crecimiento." Annales Nestle-Spanish Edition 65(3): 99.
Rosenbloom, A. L. (2007). "Recombinant human insulin-like growth factor I (rhIGF-I) and rhIGF-I/rhIGF-binding-protein-3: new growth treatment options?" The Journal of pediatrics 150(1): 7-11.
Rossi, A. and A. Superti-Furga (2001). "Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance." Human mutation 17(3): 159.
Roughley, P., F. Rauch and F. Glorieux (2003). "Osteogenesis imperfecta—clinical and molecular diversity." Eur Cell Mater 5: 41-47.
Rousseau, F., J. Bonaventure, L. Legeai-Mallet, A. Pelet, J.-M. Rozet, P. Maroteaux, M. Le Merrer and A. Munnich (1996). "Mutations of the fibroblast growth factor receptor-3 gene in achondroplasia." Hormone Research in Paediatrics 45(1-2): 108-110.
Rousseau, F., J. Bonaventure, L. Legeai-Mallet, H. Schmidt, J. Weissenbach, P. Maroteaux, A. Munnich and M. Le Merrer (1996). "Clinical and genetic heterogeneity of hypochondroplasia." Journal of medical genetics 33(9): 749-752.
Royce, P. M. and B. Steinmann (2003). Connective tissue and its heritable disorders: molecular, genetic, and medical aspects, John Wiley & Sons.
Rudra, S. and R. V. Skibbens (2013). "Chl1 DNA helicase regulates Scc2 deposition specifically during DNA-replication in Saccharomyces cerevisiae." PloS one 8(9): e75435.
Rugg-Gunn, A., S. Al-Mohammadi and T. Butler (1998). "Malnutrition and developmental defects of enamel in 2-to 6-year-old Saudi boys." Caries Research 32(3): 181-192.
Ryan, A., K. Bartlett, P. Clayton, S. Eaton, L. Mills, D. Donnai, R. Winter and J. Burn (1998). "Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype." Journal of medical genetics 35(7): 558-565.
Saadi, A., G. Borck, N. Boddaert, M. C. Chekkour, B. Imessaoudene, A. Munnich, L. Colleaux and M. Chaouch (2009). "Compound heterozygous ASPM mutations associated with microcephaly and simplified cortical gyration in a consanguineous Algerian family." European journal of medical genetics 52(4): 180-184.
Saal, H. M., R. A. Pagon and M. G. Pepin (1985). "Reevaluation of Russell-Silver syndrome." The Journal of pediatrics 107(5): 733-737.
Saenger, P., K. A. Wikland, G. Conway, M. Davenport, C. H. Gravholt, R. Hintz, O. Hovatta, M. Hultcrantz, K. Landin-Wilhelmsen and A. Lin (2001). "Recommendations for the Diagnosis and Management of Turner Syndrome 1." The Journal of Clinical Endocrinology & Metabolism 86(7): 3061-3069.
Salerno, M., G. Amabile, C. Mandato, S. Di Maio, M. Lecora, E. Avvedimento and G. Andria (2003). "Growth retardation, developmental delay, distinctive face, multiple endocrine abnormalities, and adenylyl cyclase dysfunction: A new syndrome?" American Journal of Medical Genetics Part A 120(3): 389-394.
Sanger, F. and A. R. Coulson (1975). "A rapid method for determining sequences in DNA by primed synthesis with DNA polymerase." Journal of molecular biology 94(3): 441-448.
Sanger, F., S. Nicklen and A. R. Coulson (1977). "DNA sequencing with chain-terminating inhibitors." Proceedings of the National Academy of Sciences 74(12): 5463-5467.
Sauk, J. J., R. Litt, C. E. Espiritu and J. R. Delaney (1973). "Familial bird-headed dwarfism (Seckel's syndrome)." Journal of medical genetics 10(2): 196-198.
Saul, R. A. and W. G. Wilson (1990). "A “new” skeletal dysplasia in two unrelated boys." American journal of medical genetics 35(3): 388-393.
Savage, M. O., C. P. Burren and R. G. Rosenfeld (2010). "The continuum of growth hormone–IGF-I axis defects causing short stature: diagnostic and therapeutic challenges." Clinical endocrinology 72(6): 721-728.
Sawyer, S. L., J. Schwartzentruber, C. L. Beaulieu, D. Dyment, A. Smith, J. W. Chardon, G. Yoon, G. A. Rouleau, O. Suchowersky and V. Siu (2014). "Exome sequencing as a diagnostic tool for pediatric-onset ataxia." Human mutation 35(1): 45-49.
Scott, C. (1969). "Low birth weight dwarfism in two brothers." Birth Defects Orig Artic Ser 5: 241-244.
Schmidts, M. (2014). "Clinical genetics and pathobiology of ciliary chondrodysplasias." Journal of pediatric genetics 3(2): 46.
Schmidts, M., H. H. Arts, E. M. Bongers, Z. Yap, M. M. Oud, D. Antony, L. Duijkers, R. D. Emes, J. Stalker and J.-B. L. Yntema (2013). "Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement." Journal of medical genetics: jmedgenet-2012-101284.
Schoenwolf, G. C., S. B. Bleyl, P. R. Brauer and P. H. Francis-West (2012). Larsen's Human Embryology: with STUDENT CONSULT Online Access, Elsevier Health Sciences.
Schönenberg, H. (1976). "[Seckel syndrom (author's transl)]." Klinische Padiatrie 188(5): 449-454.
Schrier, S. A., J. N. Bodurtha, B. Burton, A. E. Chudley, M. A. D. Chiong, M. G. D'avanzo, S. A. Lynch, A. Musio, D. M. Nyazov and P. A. Sanchez-Lara (2012). "The Coffin–Siris syndrome: A proposed diagnostic approach and assessment of 15 overlapping cases." American Journal of Medical Genetics Part A 158(8): 1865-1876.
Schrier Vergano, S., G. Santen and D. Wieczorek (2014). "Coffin-Siris Syndrome. 2013 Apr 4 [Updated 2013 Jul 11]." GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle.
Schubbert, S., M. Zenker, S. L. Rowe, S. Böll, C. Klein, G. Bollag, I. van der Burgt, L. Musante, V. Kalscheuer and L.-E. Wehner (2006). "Germline KRAS mutations cause Noonan syndrome." Nature genetics 38(3): 331-336.
Seckel, H. P. G. (1960). Bird-headed dwarfs: studies in developmental anthropology including human proportions, CC Thomas.
Selby, M. J., A. Barta, J. D. Baxter, G. I. Bell and N. Eberhardt (1984). "Analysis of a major human chorionic somatomammotropin gene. Evidence for two functional promoter elements." Journal of Biological Chemistry 259(21): 13131-13138.
SenGupta, D. J. and B. T. Cookson (2010). "SeqSharp: A general approach for improving cycle-sequencing that facilitates a robust one-step combined amplification and sequencing method." The Journal of molecular diagnostics 12(3): 272-277.
Shaheen, R., E. Faqeih, S. Ansari, G. Abdel-Salam, Z. N. Al-Hassnan, T. Al-Shidi, R. Alomar, S. Sogaty and F. S. Alkuraya (2014). "Genomic analysis of primordial dwarfism reveals novel disease genes." Genome research 24(2): 291-299.
Shalev, S. A. and J. G. Hall (2003). "Another adult with Meier-Gorlin syndrome-insights into the natural history." Clinical dysmorphology 12(3): 167-169.
Shanske, A., D. G. Caride, L. Menasse-Palmer, A. Bogdanow and R. W. Marion (1997). "Central nervous system anomalies in Seckel syndrome: report of a new family and review of the literature." American journal of medical genetics 70(2): 155-158.
Sharp, P. A. and C. B. Burge (1997). "Classification of introns: U2-type or U12-type." Cell 91(7): 875-879.
Shebib, S., C. Hugosson, N. Sakati and W. L. Nyhan (1991). "Osteodysplastic variant of primordial dwarfism." American journal of medical genetics 40(2): 146-150.
Shen, Z., A. Chakraborty, A. Jain, S. Giri, T. Ha, K. V. Prasanth and S. G. Prasanth (2012). "Dynamic association of ORCA with prereplicative complex components regulates DNA replication initiation." Molecular and cellular biology 32(15): 3107-3120.
Shendure, J. and H. Ji (2008). "Next-generation DNA sequencing." Nature biotechnology 26(10): 1135-1145.
Sherr, C. J. (1994). "G1 phase progression: cycling on cue." Cell 79(4): 551-555.
Sherr, C. J. and J. M. Roberts (1995). "Inhibitors of mammalian G1 cyclin-dependent kinases." Genes and development 9(10): 1149-1163.
Shokralla, S., J. L. Spall, J. F. Gibson and M. Hajibabaei (2012). "Next-generation sequencing technologies for environmental DNA research." Molecular ecology 21(8): 1794-1805.
Sigaudy, S., A. Toutain, A. Moncla, C. Fredouille, B. Bourliere, S. Ayme and N. Philip (1998). "Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: Report of four cases and review of the literature." American journal of medical genetics 80(1): 16-24.
Sillence, D., K. Barlow, W. Cole, S. Dietrich, A. Garber, D. Rimoin, J. M. Opitz and J. F. Reynolds (1986). "Osteogenesis imperfecta type III. Delineation of the phenotype with reference to genetic heterogeneity." American journal of medical genetics 23(3): 821-832.
Sillence, D. O., A. Senn and D. Danks (1979). "Genetic heterogeneity in osteogenesis imperfecta." Journal of medical genetics 16(2): 101-116.
Sillibourne, J. E., B. Delaval, S. Redick, M. Sinha and S. J. Doxsey (2007). "Chromatin remodeling proteins interact with pericentrin to regulate centrosome integrity." Molecular biology of the cell 18(9): 3667-3680.
Singhmar, P. and A. Kumar (2011). "Angelman syndrome protein UBE3A interacts with primary microcephaly protein ASPM, localizes to centrosomes and regulates chromosome segregation." PloS one 6(5): e20397.
Sir, J.-H., A. R. Barr, A. K. Nicholas, O. P. Carvalho, M. Khurshid, A. Sossick, S. Reichelt, C. D'Santos, C. G. Woods and F. Gergely (2011). "A primary microcephaly protein complex forms a ring around parental centrioles." Nature genetics 43(11): 1147-1153.
Smith, D. W. (1977). "Growth and its disorders: basics and standards, approach and classifications, growth deficiency disorders, growth excess disorders, obesity." Major problems in clinical pediatrics 15: 1.
Smith, L. M., J. Z. Sanders, R. J. Kaiser, P. Hughes, C. Dodd, C. R. Connell, C. Heiner, S. B. Kent and L. E. Hood (1986). "Fluorescence detection in automated DNA sequence analysis."
Smits, P., A. D. Bolton, V. Funari, M. Hong, E. D. Boyden, L. Lu, D. K. Manning, N. D. Dwyer, J. L. Moran and M. Prysak (2010). "Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210." New England Journal of Medicine 362(3): 206-216.
Soliman, A., V. De Sanctis, R. Elalaily and S. Bedair (2014). "Advances in pubertal growth and factors influencing it: Can we increase pubertal growth?" Indian journal of endocrinology and metabolism 18(Suppl 1): S53.
Song, S. H., G. C. E. Balce, M. V. Agashe, H. Lee, S. J. Hong, Y. E. Park, S. G. Kim and H. R. Song (2012). "New proposed clinico-radiologic and molecular criteria in hypochondroplasia: FGFR 3 gene mutations are not the only cause of hypochondroplasia." American Journal of Medical Genetics Part A 158(10): 2456-2462.
Sonnen, K. F., A.-M. Gabryjonczyk, E. Anselm, Y.-D. Stierhof and E. A. Nigg (2013). "Human Cep192 and Cep152 cooperate in Plk4 recruitment and centriole duplication." Journal of cell science 126(14): 3223-3233.
Sotos, J. F., P. R. Dodge, D. Muirhead, J. D. Crawford and N. B. Talbot (1964). "Cerebral gigantism in childhood: a syndrome of excessively rapid growth with acromegalic features and a nonprogressive neurologic disorder." New England Journal of Medicine 271(3): 109-116.
Spennati, F. and B. Persichetti (1974). "Nanismo di Seckel. Descrizione di un caso." Minerva Pediatr 26: 851-855.
Spranger, J. (1984). "Pattern recognition in bone dysplasias." Progress in clinical and biological research 200: 315-342.
Spranger, S., G. Tariverdian, F. Albert, D. Sontheimer, J. Zöller, M. Weber and J. Tröger (1996). "Case report." European journal of pediatrics 155(9): 796-799.
Stiff, T., M. Alagoz, D. Alcantara, E. Outwin, H. G. Brunner, E. Bongers, M. O'Driscoll, P. A. Jeggo and S. K. Dutcher (2013). "Deficiency in origin licensing proteins impairs cilia formation: implications for the aetiology of Meier-Gorlin syndrome." PLoS Genet 9(3): e1003360.
Stothard, K. J., P. W. Tennant, R. Bell and J. Rankin (2009). "Maternal overweight and obesity and the risk of congenital anomalies: a systematic review and meta-analysis." Jama 301(6): 636-650.
Sugio, Y., M. Tsukahara and T. Kajii (1993). "Two Japanese cases with microcephalic primordial dwarfism: classical Seckel syndrome and osteodysplastic primordial dwarfism type II." Japanese Journal of Human Genetics 38(2): 209-217.
Sugita, K., J.-i. Takanashi, M. Ishii and H. Niimi (1992). "Comparison of MRI white matter changes with neuropsychologic impairment in Cockayne syndrome." Pediatric neurology 8(4): 295-298.
Superti-Furga, A., L. Bonafé and D. L. Rimoin (2001). "Molecular-pathogenetic classification of genetic disorders of the skeleton." American journal of medical genetics 106(4): 282-293.
Swartz, K. R., D. Resnick, B. J. Iskandar, D. Wargowski, D. Brockmeyer and J. Opitz (2003). "Craniocervical anomalies in Dubowitz syndrome. Three cases and a literature review." Pediatric neurosurgery 38(5): 238-243.
Szalay, G. (1974). "Letter: Seckel syndrome." Journal of medical genetics 11(2): 216.
Szalay, G. C. (1964). "Intrauterine growth retardationversus Silver's syndrome." The Journal of pediatrics 64(2): 234-240.
Takahashi, M., A. Yamagiwa, T. Nishimura, H. Mukai and Y. Ono (2002). "Centrosomal proteins CG-NAP and kendrin provide microtubule nucleation sites by anchoring γ-tubulin ring complex." Molecular biology of the cell 13(9): 3235-3245.
Tanaka, A., S. Weinel, N. Nagy, M. O'Driscoll, J. E. Lai-Cheong, C. L. Kulp-Shorten, A. Knable, G. Carpenter, S. A. Fisher and M. Hiragun (2012). "Germline mutation in ATR in autosomal-dominant oropharyngeal cancer syndrome." The American Journal of Human Genetics 90(3): 511-517.
Tang, C.-J. C., R.-H. Fu, K.-S. Wu, W.-B. Hsu and T. K. Tang (2009). "CPAP is a cell-cycle regulated protein that controls centriole length." Nature Cell Biology 11(7): 825-831.
Tapon, N., K. F. Harvey, D. W. Bell, D. C. Wahrer, T. A. Schiripo, D. A. Haber and I. K. Hariharan (2002). "salvador Promotes both cell cycle exit and apoptosis in Drosophila and is mutated in human cancer cell lines." Cell 110(4): 467-478.
Tartaglia, M., E. L. Mehler, R. Goldberg, G. Zampino, H. G. Brunner, H. Kremer, I. van der Burgt, A. H. Crosby, A. Ion and S. Jeffery (2001). "Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome." Nature genetics 29(4): 465-468.
Tartaglia, M., C. M. Niemeyer, A. Fragale, X. Song, J. Buechner, A. Jung, K. Hählen, H. Hasle, J. D. Licht and B. D. Gelb (2003). "Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia." Nature genetics 34(2): 148-150.
Taybi, H. (1992). "Microcephalic osteodysplastic primordial dwarfism and cephalo-skeletal dysplasia (Taybi-Linder syndrome)." American journal of medical genetics 43(3): 628-628.
Taybi, H. and D. Linder (1967). "Congenital Familial Dwarfism with Cephaloskeletal Dysplasia 1." Radiology 89(2): 275-281.
Tekin, M., J. Ng and J. Bodurtha (2000). "A 17-month-old with extreme prenatal-onset growth delay." European journal of pediatrics 159(12): 926-928.
Terhal, P., M. Ausems, Y. Van Bever, L. Ten Kate, P. Dijkstra and G. Kuijpers (2000). "Breast hypoplasia and disproportionate short stature in the ear, patella, short stature syndrome: expansion of the phenotype?" Journal of medical genetics 37(9): 719-721.
Théau, D. and P. Maroteaux (1993). Nanisme microcéphalique primordial de type II: à propos d'un cas ayant terminé sa croissance. Annales de pédiatrie, Expansion scientifique publications.
Thomas, G. and M. N. Hall (1997). "TOR signalling and control of cell growth." Current opinion in cell biology 9(6): 782-787.
Thomas, N. S., J. F. Harvey, D. J. Bunyan, J. Rankin, G. Grigelioniene, D. L. Bruno, T. Y. Tan, S. Tomkins and R. Hastings (2009). "Clinical and molecular characterization of duplications encompassing the human SHOX gene reveal a variable effect on stature." American Journal of Medical Genetics Part A 149(7): 1407-1414.
Thomas, P. and N. Nevin (1976). Congenital familial dwarfism with cephalo-skeletal dysplasia. Annales de radiologie.
Thompson, E. and M. Pembrey (1985). "Seckel syndrome: an overdiagnosed syndrome." Journal of medical genetics 22(3): 192-201.
Tibelius, A., J. Marhold, H. Zentgraf, C. E. Heilig, H. Neitzel, B. Ducommun, A. Rauch, A. D. Ho, J. Bartek and A. Krämer (2009). "Microcephalin and pericentrin regulate mitotic entry via centrosome-associated Chk1." The Journal of cell biology 185(7): 1149-1157.
Tolmie, J. E. A. and P. Rimoins (1996). "Principles and practice of medical genetics." Churchill Livingston: 2152.
Torres, T. T., M. Metta, B. Ottenwälder and C. Schlötterer (2008). "Gene expression profiling by massively parallel sequencing." Genome research 18(1): 172-177.
Toudic, L., P. Maroteaux, Y. Castel, H. Gouedard and P. Parent (1983). Hétérogénéité du syndrome de Seckel: à propos d'un cas. Annales de pédiatrie, Expansion scientifique publications.
Toudic, L., J. Roche and D. Alix (1977). "Nanisme intra-utérin majeur avec dysmorphies et encéphalopathie profonde de type nanisme ā tęte d'oiseau." Ann Pediatr 24: 653-656.
Tsuchiya, H., S. Kobayashi, J. Cervenka, H. Mori and A. Oguro (1981). "Analysis of the dentition and orofacial skeleton in Seckel's bird-headed dwarfism." Journal of maxillofacial surgery 9: 170-175.
Tsukahara, M. and J. M. Opitz (1996). "Dubowitz syndrome: review of 141 cases including 36 previously unreported patients." American journal of medical genetics 63(1): 277-289.
Tsurusaki, Y., N. Okamoto, H. Ohashi, T. Kosho, Y. Imai, Y. Hibi-Ko, T. Kaname, K. Naritomi, H. Kawame and K. Wakui (2012). "Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome." Nature genetics 44(4): 376-378.
Tufan, F., K. Cefle, S. Türkmen, A. Türkmen, U. Zorba, M. Dursun, S. Oztürk, S. Palandüz, T. Ecder and S. Mundlos (2005). "Clinical and molecular characterization of two adults with autosomal recessive Robinow syndrome." American Journal of Medical Genetics Part A 136(2): 185-189.
Uysal, S., A. Kalayci and K. Baysal (1999). "Cardiac functions in children with vitamin D deficiency rickets." Pediatric cardiology 20(4): 283-286.
Vaara, P., E. Marttinen and J. Peltonen (1997). "Ultrasonography of the patellofemoral joint in diastrophic dysplasia." Journal of pediatric orthopaedics 17(4): 512-515.
Van der Burgt, I. (2007). "Noonan syndrome." Orphanet journal of rare diseases 2(1): 1.
van der Lelij, P., K. H. Chrzanowska, B. C. Godthelp, M. A. Rooimans, A. B. Oostra, M. Stumm, M. Z. Zdzienicka, H. Joenje and J. P. de Winter (2010). "Warsaw breakage syndrome, a cohesinopathy associated with mutations in the XPD helicase family member DDX11/ChlR1." The American Journal of Human Genetics 86(2): 262-266.
Van Dijk, F. and D. Sillence (2014). "Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment." American Journal of Medical Genetics Part A 164(6): 1470-1481.
van Dijk, F. S., J. M. Cobben, A. Kariminejad, A. Maugeri, P. G. Nikkels, R. R. van Rijn and G. Pals (2011). "Osteogenesis imperfecta: a review with clinical examples." Molecular syndromology 2(1): 1-20.
Varelas, X., B. W. Miller, R. Sopko, S. Song, A. Gregorieff, F. A. Fellouse, R. Sakuma, T. Pawson, W. Hunziker and H. McNeill (2010). "The Hippo pathway regulates Wnt/β-catenin signaling." Developmental cell 18(4): 579-591.
Vasa-Nicotera, M., S. Brouilette, M. Mangino, J. R. Thompson, P. Braund, J.-R. Clemitson, A. Mason, C. L. Bodycote, S. M. Raleigh and E. Louis (2005). "Mapping of a major locus that determines telomere length in humans." The American Journal of Human Genetics 76(1): 147-151.
Vatin, M., S. Bouvier, L. Bellazi, X. Montagutelli, P. Laissue, A. Ziyyat, C. Serres, P. De Mazancourt, M.-N. Dieudonné and E. Mornet (2014). "Polymorphisms of human placental alkaline phosphatase are associated with in vitro fertilization success and recurrent pregnancy loss." The American journal of pathology 184(2): 362-368.
Vatin, M., G. Burgio, G. Renault, P. Laissue, V. Firlej, F. Mondon, X. Montagutelli, D. Vaiman, C. Serres and A. Ziyyat (2012). "Refined mapping of a quantitative trait locus on chromosome 1 responsible for mouse embryonic death." PloS one 7(8): e43356.
Verloes, A., L. Lambrechts, J. Senterre and C. Lambotte (1987). "Microcephalic osteodysplastic dwarfism (Type ll-like) in siblings." Clinical genetics 32(2): 88-94.
Vichi, G., G. Currarino, R. Wasserman, P. Duvina and L. Filippi (2000). "Cephaloskeletal dysplasia (Taybi-Linder syndrome; osteodysplastic primordial dwarfism type III): report of two cases and review of the literature." Pediatric radiology 30(9): 644-652.
Waldron, J. S., S. W. Hetts, J. Armstrong-Wells, C. F. Dowd, H. J. Fullerton, N. Gupta and M. T. Lawton (2009). "Multiple intracranial aneurysms and moyamoya disease associated with microcephalic osteodysplastic primordial dwarfism type II: surgical considerations: Report of 3 cases." Journal of Neurosurgery: Pediatrics 4(5): 439-444.
Warcoin, M., J. Lespinasse, G. Despouy, C. Dubois d'Enghien, A. Laugé, M. F. Portnoï, S. Christin-Maitre, D. Stoppa-Lyonnet and M. Henri Stern (2009). "Fertility defects revealing germline biallelic nonsense NBN mutations." Human mutation 30(3): 424-430.
Warman, M. L., V. Cormier-Daire, C. Hall, D. Krakow, R. Lachman, M. LeMerrer, G. Mortier, S. Mundlos, G. Nishimura and D. L. Rimoin (2011). "Nosology and classification of genetic skeletal disorders: 2010 revision." American journal of medical genetics Part A 155(5): 943-968.
Wegner, R.-D., K. Chrzanowska, K. Sperling and M. Stumm (1999). "Ataxia-telangiectasia variants (Nijmegen breakage syndrome)." Primary Immunodeficiency Diseases, a Molecular and Genetic Approach, Ochs HD, Smith CIE, Puck JM (eds) pp: 324-334.
Weigmann, K., S. M. Cohen and C. F. Lehner (1997). "Cell cycle progression, growth and patterning in imaginal discs despite inhibition of cell division after inactivation of Drosophila Cdc2 kinase." Development 124(18): 3555-3563.
Weiner, D. S., D. Jonah and S. Kopits (2008). "The 3-dimensional configuration of the typical foot and ankle in diastrophic dysplasia." Journal of Pediatric Orthopaedics 28(1): 60-67.
Weiner, D. S., D. Jonah and S. Kopits (2010). "The 3-dimensional configuration of the typical hip and knee in diastrophic dysplasia." Journal of Pediatric Orthopaedics 30(4): 403-410.
Wellik, D. M. and M. R. Capecchi (2003). "Hox10 and Hox11 genes are required to globally pattern the mammalian skeleton." Science 301(5631): 363-367.
Westman, J., E. Stover and C. Singley (1999). Microcephalic osteodysplastic primordial dwarfism type I in the Amish. AMERICAN JOURNAL OF HUMAN GENETICS, UNIV CHICAGO PRESS 5720 SOUTH WOODLAWN AVE, CHICAGO, IL 60637-1603 USA.
Wharton, B. and N. Bishop (2003). "Rickets." The Lancet 362(9393): 1389-1400.
White, J., J. F. Mazzeu, A. Hoischen, S. N. Jhangiani, T. Gambin, M. C. Alcino, S. Penney, J. M. Saraiva, H. Hove and F. Skovby (2015). "DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome." The American Journal of Human Genetics 96(4): 612-622.
Whittaker, A. J., I. Royzman and T. L. Orr-Weaver (2000). "Drosophila double parked: a conserved, essential replication protein that colocalizes with the origin recognition complex and links DNA replication with mitosis and the down-regulation of S phase transcripts." Genes & Development 14(14): 1765-1776.
Wilcox, D., F. Quinn, C. Ng, C. Mireaux-Dicks and P. Mouriquand (1997). "Redefining the genital abnormality in the Robinow syndrome." The Journal of urology 157(6): 2312-2314.
Willems, M., D. Genevieve, G. Borck, G. Baujat, M. Gerard, D. Heron, B. Leheup, M. Le Merrer, A. Verloes and L. Colleaux (2008). Pericentrin molecular analysis in 22 Seckel/MOPDII patients. 58th Annual Meeting, American Society of Human Genetics, Philadelphia, PA.
Willems, M., D. Genevieve, G. Borck, C. Baumann, G. Baujat, E. Bieth, P. Edery, C. Farra, M. Gerard and D. Héron (2009). "Molecular analysis of Pericentrin gene (PCNT) in a series of 24 Seckel/MOPD II families." Journal of medical genetics: jmg. 2009.067298.
Willems, P. J., C. Rouwé, G. P. A. Smit, J. M. Opitz and J. F. Reynolds (1987). "A new case of the osteodysplastic primordial dwarfism type II." American journal of medical genetics 26(4): 819-824.
Winter, R., J. Wigglesworth, B. Harding, J. M. Opitz and J. F. Reynolds (1985). "Osteodysplastic primordial dwarfism: report of a further patient with manifestations similar to those seen in patients with types I and III." American journal of medical genetics 21(3): 569-574.
Wohlschlegel, J. A., B. T. Dwyer, S. K. Dhar, C. Cvetic, J. C. Walter and A. Dutta (2000). "Inhibition of eukaryotic DNA replication by geminin binding to Cdt1." Science 290(5500): 2309-2312.
Wollmann, H., T. Kirchner, H. Enders, M. Preece and M. Ranke (1995). "Growth and symptoms in Silver-Russell syndrome: review on the basis of 386 patients." European journal of pediatrics 154(12): 958-968.
Wong, A., P. A. Ormonde, R. Pero, Y. Chen, L. Lian, G. Salada, S. Berry, Q. Lawrence, P. Dayananth and P. Ha (1998). "Characterization of a carboxy-terminal BRCA1 interacting protein." Oncogene 17(18): 2279-2285.
Wong, C. C., K. E. Loewke, N. L. Bossert, B. Behr, C. J. De Jonge, T. M. Baer and R. A. R. Pera (2010). "Non-invasive imaging of human embryos before embryonic genome activation predicts development to the blastocyst stage." Nature biotechnology 28(10): 1115-1121.
Wood, J. W., K. G. Johnson and Y. Omori (1967). "IN UTERO EXPOSURE TO THE HIROSHIMA ATOMIC BOMB An Evaluation of Head Size and Mental Retardation: Twenty Years Later." Pediatrics 39(3): 385-392.
Woods, C. G., J. Bond and W. Enard (2005). "Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings." The American Journal of Human Genetics 76(5): 717-728.
Wullschleger, S., R. Loewith and M. N. Hall (2006). "TOR signaling in growth and metabolism." Cell 124(3): 471-484.
Wynn, J., T. M. King, M. J. Gambello, D. K. Waller and J. T. Hecht (2007). "Mortality in achondroplasia study: A 42-year follow-up." American Journal of Medical Genetics Part A 143(21): 2502-2511.
Wynne-Davies, R. and M. Patton (1991). "The frequency of mental retardation in hypochondroplasia." Journal of medical genetics 28(9): 644.
Yamamoto, T., M. Ebisuya, F. Ashida, K. Okamoto, S. Yonehara and E. Nishida (2006). "Continuous ERK activation downregulates antiproliferative genes throughout G1 phase to allow cell-cycle progression." Current Biology 16(12): 1171-1182.
Yamatogi, Y. and S. Ohtahara (2002). "Early-infantile epileptic encephalopathy with suppression-bursts, Ohtahara syndrome; its overview referring to our 16 cases." Brain and Development 24(1): 13-23.
Yan, Z., J. DeGregori, R. Shohet, G. Leone, B. Stillman, J. R. Nevins and R. S. Williams (1998). "Cdc6 is regulated by E2F and is essential for DNA replication in mammalian cells." Proceedings of the National Academy of Sciences 95(7): 3603-3608.
Yu, X. and R. Baer (2000). "Nuclear localization and cell cycle-specific expression of CtIP, a protein that associates with the BRCA1 tumor suppressor." Journal of Biological Chemistry 275(24): 18541-18549.
Zetterberg, A., W. Engström and E. Dafgård (1984). "The relative effects of different types of growth factors on DNA replication, mitosis, and cellular enlargement." Cytometry 5(4): 368-375.
Zhao, B., L. Li and K.-L. Guan (2010). "Hippo signaling at a glance." Journal of cell science 123(23): 4001-4006.
Zhao, L., C. Jin, Y. Chu, C. Varghese, S. Hua, F. Yan, Y. Miao, J. Liu, D. Mann and X. Ding (2010). "Dimerization of CPAP orchestrates centrosome cohesion plasticity." Journal of Biological Chemistry 285(4): 2488-2497.
Zimmerman, W. C., J. Sillibourne, J. Rosa and S. J. Doxsey (2004). "Mitosis-specific anchoring of γ tubulin complexes by pericentrin controls spindle organization and mitotic entry." Molecular biology of the cell 15(8): 3642-3657.
Zinn, A. R., F. Wei, L. Zhang, F. F. Elder, C. I. Scott, P. Marttila and J. L. Ross (2002). "Complete SHOX deficiency causes Langer mesomelic dysplasia." American journal of medical genetics 110(2): 158-163.
Ziosi, M., L. A. Baena-López, D. Grifoni, F. Froldi, A. Pession, F. Garoia, V. Trotta, P. Bellosta, S. Cavicchi and A. Pession (2010). "dMyc functions downstream of Yorkie to promote the supercompetitive behavior of hippo pathway mutant cells."
Zou, L. and S. J. Elledge (2003). "Sensing DNA damage through ATRIP recognition of RPA-ssDNA complexes." Science 300(5625): 1542-1548.
Repositorio EdocUR-U. Rosario
Universidad del Rosario
instacron:Universidad del Rosario

Los síndromes de enanismo esencial microcefálico son un grupo de enfermedades monogénicas infrecuentes que se caracterizan principalmente por talla baja extrema proporcionada de inicio prenatal y microcefalia severa. En los pacientes que formaron

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db107d120d803fe35b6c7ae13bebcfb9
http://repository.urosario.edu.co/handle/10336/13421

Análisis del gen adra2a receptor alfa 2a adrenergico en pacientes con trastorno de hiperactividad y déficit de atención

Autor: Castro Cuesta, Taryn

Publikováno v: Aguiar, Andréa, Paul a Eubig, and Susan L Schantz, ‘Attention Deficit/hyperactivity Disorder: a Focused Overview for Children’s Environmental Health Researchers.’, Environmental Health Perspectives, 118 (2010), 1646-53 .
Adler, Lenard A.; Spencer, Thomas; Faraone, Stephen V.; Kessler, Ronald C.; Howes, Mary J.; Biederman, Joseph; Secnik, Kristina, ʻValidity of Pilot Adult ADHD Self-Report Scale (ASRS) to Rate Adult ADHD Symptoms.ʼ Annals of Clinical Psychiatry, Vol 18(3), Jul-Sep 2006, 145-148. .
Antonio Juan, Amador Campos, Maria Forns Santacana, y Teresa Kirchner Nebot, ‘La Escala De Inteligencia De Wechsler Para NiñosRevisada’.
Arán, Vanessa, and Filippetti Carlos, ‘Neuropsicología Del Trastorno Por Déficit De Atención / Hiperactividad : Subtipos Predominio Déficit De Atención y Predominio Hiperactivo-Impulsivo’, 28 (2009), 14-28.
Barbaresi, William J, Jeanine Ransom, and Peter C O Brien, ‘Use and Costs of Medical Care for Children Attention-Deficit / Hyperactivity Disorder’, 285 (2011), 60-66.
Barkley RA. Developmental course, adult outcome, and clinic-referred ADHD adults. In: Barkley RA, ed. Attention-Deficit Hyperactivity Disorder: A Handbook for Diagnosis and Treatment. 2nd ed. New York, NY: Guilford Press. 1998. 186–224.
Barr, C L, K Wigg, G Zai, W Roberts, M Malone, R Schachar, and others, ‘Attention-deficit Hyperactivity Disorder and the Adrenergic Receptors Alpha 1C and Alpha 2C.’, Molecular Psychiatry, 6 (2001), 334-7
Bará S, Jiménez DA, Vicuña GC, Pineda D, and Henao P, ‘Perfiles Neuropsicológicos y Conductuales De Niños Con Trastorno Por Déficit De Atención / Hiperactividad De Cali, Colombia’, 37 (2003), 608-615.
Bobb, Aaron J., F. Xavier Castellanos, Anjene M. Addington, and Judith L. Rapoport, ‘Molecular Genetic Studies of ADHD: 1991 to 2004’, American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 141B (2006), 551-565 .
Carmen Lara, John Fayyad, Ron de Graaf, Ronald C. Kessler, Sergio Aguilar-Gaxiola, Matthias Angermeyer, Koen Demytteneare, Giovanni de Girolamo,Josep Maria Haro, Robert Jin, Elie G. Karam, Jean-Pierre Lépine,Maria Elena Medina Mora, Johan Ormel, José Posada-Villa yNancy Sampson,ʻChildhood Predictors of Adult Attention-Deficit/Hyperactivity Disorder: Results from the World Health Organization World Mental Health Survey Initiative.ʼ Biological Psychiatry.Volume 65, Issue 1, Pages 46-54, 1 January 2009.
Cheon, Keun-Ah, Dae-Yeon Cho, Min-Seong Koo, Dong-Ho Song, and KeeNamkoong, ‘Association Between Homozygosity of a G Allele of the Alpha-2a-adrenergic Receptor Gene and Methylphenidate Response in Korean Children and Adolescents with Attention-deficit/hyperactivity Disorder.’, Biological Psychiatry, 65 (2009), 564-70
Comings, D E, R Gade-Andavolu, N Gonzalez, H Blake, S Wu, and J P MacMurray, ‘Additive Effect of Three Noradrenergic Genes (ADRA2a, ADRA2C, DBH) on Attention-deficit Hyperactivity Disorder and Learning Disabilities in Tourette Syndrome Subjects.’, Clinical Genetics, 55 (1999), 160-72 .
Cornejo, J W, O Osío, Y Sánchez, J Carrizosa, G Sánchez, H Grisales, and others, ‘Prevalencia Del Trastorno Por Déficit De Atención-hiperactividad En Niños y Adolescentes Colombianos’, Revista De Neurología, 40 (2005), 716-722.
Cortese S, Faraone SV, Sergeant J, ´Misunderstandings of the genetics and neurobiology of ADHD: Moving beyond anachronism.', Am J Med Genet B Neurophychiatry Genet 156:513-516.
Doyle, Alysa E, Stephen V Faraone, Larry J Seidman, Erik G Willcutt, Joel T Nigg, Irwin D Waldman, and others, ‘Are Endophenotypes Based on Measures of Executive Functions Useful for Molecular Genetic Studies of ADHD?’, Journal of Child Psychology and Psychiatry, and Allied Disciplines, 46 (2005), 774-803 .
Feng, J, J L Sobell, L LHeston, D Goldman, E Cook, H R Kranzler, and others, ‘Variants in the alpha2A AR Adrenergic Receptor Gene in Psychiatric Patients.’, American Journal of Medical Genetics, 81 (1998), 405-10 .
Fuemmeler, B F, T Ostbye, C Yang, F J McClernon, and S H Kollins, ‘Association Between Attention-deficit/hyperactivity Disorder Symptoms and Obesity and Hypertension in Early Adulthood: a Population-based Study.’, International Journal of Obesity (2005), 35 (2011), 852-62
Gizer Ian R., Ficks Courtney and Waldman Irwin. ‘Candidate gene studies of ADHD: A meta-analytic review. ’, Human Genetics (2009) 126: 51-90˂doi: 10.1007/s00439-009-0694-x˃
Health, Mental, ‘Attention-Deficit Hyperactivity Disorder (ADHD) in Adults’, ed. by W. Retz and R.G. Klein, 176 (2009).
International HapMap Project-NCBI, disponible en: http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?searchType=adhoc_search&type=rs&rs=rs1800038
James P. O'donnell, Kathleen k. Mccann, and Steve Pluth, ʻAssessing adult adhd using a self-report symptom checklist.ʼ Psychological Reports: Volume 88, (2001) issue, pp. 871-881. .
Jewell-Motz, E a, K M Small, C T Theiss, and S B Liggett, ‘Alpha 2A/alpha 2C-adrenergic Receptor Third Loop Chimera Show That Agonist Interaction with Receptor Subtype Backbone Establishes G Protein-coupled Receptor Kinase Phosphorylation.’, The Journal of Biological Chemistry, 275 (2000), 28989-93 .
JT McCracken, KK Badashova, DJ Posey, MG Aman, L Scahill, Etierney, LE Arnold, B Vitiello, F Whelan, SZ Chuang, M Davies, B Shah, CJ McDougle and EL Nurmi, 'Positive effects of methylphenidate on hyperactivity are moderated by monoaminergic gene variants in children with autism spectrum disorders.
Kathleen M Egan, Jeannine Abruzzo, Polly A Newcomb, Linda Titus-ernstoff, Tracie Franklin, and others, ‘Collection of Genomic DNA from Adults in Epidemiological Studies By’, 10 (2001), 687-696.
Kessler, Ronald C, Patricia A Berglund, Martha L Bruce, J Randy, Eugene M Laska, Philipj Leaf, and others, ‘Articles The Prevalence and Correlates of Untreated Serious Mental Illness’, HSR: Health Services Research, 1999, 987-1007.
Kim, Boong-Nyun, Jae-Won Kim, Hyejin Kang, Soo-Churl Cho, Min-Sup Shin, Hee-JeongYoo, and others, ‘Regional Differences in Cerebral Perfusion Associated with the alpha-2A-adrenergic Receptor Genotypes in Attention Deficit Hyperactivity Disorder.’, Journal of Psychiatry & Neuroscience : JPN, 35 (2010), 330-6 .
Konrad, Kerstin, and Simon B Eickhoff, ‘Is the ADHD Brain Wired Differently? A Review on Structural and Functional Connectivity in Attention Deficit Hyperactivity Disorder.’, Human Brain Mapping, 31 (2010), 904-16 .
Kurnik, Daniel, ‘Effects of Variation in the Human α2A-and α2C-adrenoceptor Genes on Cognitive Tasks and Pain Perception’, Eur J Pain., 14 (2011), 1-13 .
Lee, Patti P, Wendy Sharp, Neal O Jeffries, Deanna K Greenstein, Liv S Clasen, Jonathan D Blumenthal, and others, ‘Of Brain Volume Abnormalities in Children and Adolescents With Attention-Deficit / Hyperactivity Disorder’, Jama, 288 (2002), 1740-1748.
Lefkowitz, R J, and M G Caron, ‘Regulation of Adrenergic Receptor Function by Phosphorylation.’,Current Topics in Cellular Regulation, 28 (1986), 209-31 .
Li Yang, Qiujin Quian, Lu Liu, Haimei Li, Stephen V. Faraone, Yufeng Wang, 'Adrenergic neurotransmitter system transporter and receptor genes associated with atomoxetine response in attention-deficit hyperactivity disorder children.', J Neural Transm (2013) 120:1127-1133.
Lum, a, and L Le Marchand, ‘A Simple Mouthwash Method for Obtaining Genomic DNA in Molecular Epidemiological Studies.’, Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 7 (1998), 719-24 .
M, Alfonso Urzúa, Marcos Domic S, Andrea Cerda C, Mireya Ramos B, and Jael Quiroz E, ‘Trastorno Por Déficit De Atención Con Hiperactividad En Niños Escolarizados’, 80 (2009), 332-338.
Martijn Arns, Kristiaan B. van der Heijden, L. Eugene Arnold and J. Leon Kenemans, 'Geographic variation in the prevalence of attention-Deficit/Hyperactivity disorder: The sunny perspective.', Biol Psychiatry 2013;
McClendon, Debra T, Jared S Warren, Katherine M Green, Gary M Burlingame, Dennis L Eggett, and Richard J McClendon, ‘Sensitivity to Change of Youth Treatment Outcome Measures: a Comparison of the CBCL, BASC-2, and Y-OQ.’, Journal of Clinical Psychology, 67 (2011), 111-25 .
Merrell, Kenneth W., Richard L. Blade, Jacqueline Lund, and Kari K.G. Kempf, ‘Convergent and Discriminant Construct Validity of the Internalizing Symptoms Scale for Children with the BASC-SRP-C’, Psychology in the Schools, 40 (2003), 139-144 .
Miller, S. A.; Dykes, D. D.; Polesky, H. F. ʻA simple salting out procedure for extracting DNA from human nucleated cellsʼ, Nucl. Acids Res. (1988)16 (3):1215.
Mulas, F, M Téllez De Meneses, S Hernández-muela, L Mattos, and I Pitarch, ‘TrastornoPorDéficit De Atención e Hiperactividad y Epilepsia’, Revista De Neurologia Valencia España, 39 (2004), 192-195.
Mulot, Claire, Isabelle Stücker, Jacqueline Clavel, Philippe Beaune, and Marie-Anne Loriot, ‘Collection of Human Genomic DNA from Buccal Cells for Genetics Studies: Comparison BetweenCytobrush, Mouthwash, and Treated Card.’, Journal of Biomedicine & Biotechnology, 2005 (2005), 291-6 .
MutPred Server. Disponible en: http://mutpred.mutdb.org/index.html
Nagel, Bonnie J, DeeptiBathula, Megan Herting, Colleen Schmitt, Christopher D Kroenke, Damien Fair, and others, ‘Altered White Matter Microstructure in Children with Attention Deficit/Hyperactivity Disorder’, 2012, pp. 1-15 .
Neale, Benjamin M, Sarah E Medland, Stephan Ripke, Philip Asherson, Barbara Franke, Klaus-peter Lesch, and others, ‘Meta-analysis of Genome-wide Association Studies of Attention Deficit/hyperactivity Disorder’, J Am Acad Child Adolesc Psychiatry., 49 (2011), 1-23 .
NovoSNP disponible en: http://www.molgen.ua.ac.be/bioinfo/novosnp/.
Park, L, J T Nigg, I D Waldman, K a Nummy, C Huang-Pollock, M Rappley, and others, ‘Association and Linkage of alpha-2A Adrenergic Receptor Gene Polymorphisms with Childhood ADHD.’, Molecular Psychiatry, 10 (2005), 572-80 .
Philipp, Melanie, Marc Brede, and Lutz Hein, ‘Physiological Significance of Alpha(2)-adrenergic Receptor Subtype Diversity: One Receptor Is Not Enough.’, American Journal of Physiology. Regulatory, Integrative and Comparative Physiology, 283 (2002), R287-95 .
Pineda DA, Lopera GC, Palacio JD, Henao P. 'Prevalencia del trastorno por déficit de atención en una comunidad colombiuana.', Rev Neurología. 2001; 33:2-17.
Polanczyk Guilherme, Silva de Lima Mauricio, Lessa Horta Bernardo, Biederman Joseph and Rohde Luis Augusto, ‘The Worldwide Prevalence of ADHD: A Sistematic Review and Metaregression Analysis.’,Am J Phychiatry 2007; 164:942-948. .
Prediction of functional effects of human nsSNPs (Database PolyPhen-2) Disponible en : http://genetics.bwh.harvard.edu/pph2/.
Psychiatric, The, Gwas Consortium, and Steering Committee, ‘A Framework for Interpreting Genome-wide Association Studies of Psychiatric Disorders.’, Molecular Psychiatry, 14 (2009), 10-7 .
Rasmussen, Erik R, Rosalind J Neuman, Andrew C Heath, Florence Levy, David a Hay, and Richard D Todd, ‘Familial Clustering of Latent Class and DSM-IV Defined Attention-deficit/hyperactivity Disorder (ADHD) Subtypes.’, Journal of Child Psychology and Psychiatry, and Allied Disciplines, 45 (2004), 589-98 .
Reilly, Colin, and Niamh Holland, ‘Symptoms of Attention Deficit Hyperactivity Disorder in Children and Adults with Intellectual Disability : A Review’, 2011, 291-309.
Ren, Quen, Hitoshi Kurose, Robert J Lefkowitzs, and Susanna Cotecchiag, ‘Constitutively Active Mutants of the az-Adrenergic Receptor.’, 268 (1993), 16483-16487.
Risueño Alicia E, ‘Aportes De La Neuropsicología Dinámica Integral Al Diagnóstico y Tratamiento Del Adhd. ∗’, Rev PsiquiatrPsicol Niño y Adolesc, 4 (2001), 79-87.
Rommelse, Nanda Nj, Marieke E Altink, Neilson C Martin, CathelijneJmBuschgens, Stephen V Faraone, Jan K Buitelaar, and others, ‘Relationship Between Endophenotype and Phenotype in ADHD.’, Behavioral and Brain Functions : BBF, 4 (2008), 4 .
Schramm, N L, M P McDonald, and L E Limbird, ‘The Alpha(2a)-adrenergic Receptor Plays a Protective Role in Mouse Behavioral Models of Depression and Anxiety.’, The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 21 (2001), 4875-82 .
Sherman, D K, M K McGue, and W G Iacono, ‘Twin Concordance for Attention Deficit Hyperactivity Disorder: a Comparison of Teachers’ and Mothers' Reports.’, The American Journal of Psychiatry, 154 (1997), 532-5 .
Skounti Maria, Philalithis Anastas and Galanakis Emmanouil, ‘Variations in prevalence of attention deficit hyperactivity disorder worldwide.’, Eur J Pediatr (2007) 166:117-123
Small, Kersten M, Kari M Brown, Carrie a Seman, Cheryl T Theiss, and Stephen B Liggett, ‘Complex Haplotypes Derived from Noncoding Polymorphisms of the Intronless alpha2A-adrenergic Gene Diversify Receptor Expression.’, Proceedings of the National Academy of Sciences of the United States of America, 103 (2006), 5472-7 .
Sorting intolerant from tolerant (SIFT Database) disponible en: http://sift.bii.a-star.edu.sg/.
Stevenson, J, K Langley, H Pay, a Payton, J Worthington, W Ollier, and others, ‘Attention Deficit Hyperactivity Disorder with Reading Disabilities: Preliminary Genetic Findings on the Involvement of the ADRA2A Gene.’, Journal of Child Psychology and Psychiatry, and Allied Disciplines, 46 (2005), 1081-8 .
Still George F, ´Some Abnormal Psychical Conditions in Children: Excerpts from Three Lectures.´ Journal of Attention Disorders, v10 n2 p126-136 2006.
Talmud, P J, J a Cooper, T Gaunt, M V Holmes, S Shah, J Palmen, and others, ‘Variants of ADRA2A Are Associated with Fasting Glucose, Blood Pressure, Body Mass Index and Type 2 Diabetes Risk: Meta-analysis of Four Prospective Studies.’, Diabetologia, 54 (2011), 1710-9 .
Vakil Eli, Greenstein Yoram and Blashstein Haya, ´Normative data for composite scores for children and adults derived from de Rey auditory verbal learning test.´ The Clinical Neuropsychologist, 24: 662-677, 2010.
Velez-Alvarez Consuelo y Jose A Vidarte Claros, ‘Trastorno por déficit de atención en hiperactividad THDA, una problemática a abordar en la política pública de primera infancia en Colombia.’, Revista de salud pública, 14 sup (2): 113-128, 2012.
Vélez-van-Meerbeke A, Claudia Talero Gutiérrez, Rodrigo González Reyes, and Milciades Ibáñez Pinilla, ‘School Students in Bogotá-Colombia Artículo Original’, Acta Neurologia Colombiana, 24 (2008).
Vélez-van-Meerbeke A, IP Zamora, G. Guzmán, B. Figueroa, C.A. Lopez Cabra, C. Talero-Gutierrez, 'Evaluating executive function in shool children with symptoms of attention deficit hyperactivity disorder.' Artículo original, Neurologia.2013; 28:348-55
Vidarte JA, Ezquerro M, Giraldez MA, 'Perfil psicomotor de niños de 5 a 12 años diagnosticados clinicamente con THDA en Colombia. Rev Neurologia 2009; 49(2):69-75.
Walker, a H, D Najarian, D L White, J F Jaffe, P a Kanetsky, and T R Rebbeck, ‘Collection of Genomic DNA by Buccal Swabs for Polymerase Chain Reaction-based Biomarker Assays.’, Environmental Health Perspectives, 107 (1999), 517-20 .
Wasserman RC, Kelleher KJ, Bocian A, Childs GE, Indacochea F, Stulp C and Gardner WP, ´Identification of attentional and hyperactivity problems in primary care: a report from pediatric research in office settings and the ambulatory sentinel practice network.´ Pediatrics 1999, Mar 103(3): E38
Wang, Qin, and Lee E Limbird, ‘Regulated Interactions of the Alpha 2A Adrenergic Receptor with Spinophilin, 14-3-3zeta, and Arrestin3.’,The Journal of Biological Chemistry, 277 (2002), 50589-96 .
Wilson, M H, H a Highfield, and L E Limbird, ‘The Role of a Conserved Inter-transmembrane Domain Interface in Regulating Alpha(2a)-adrenergic Receptor Conformational Stability and Cell-surface Turnover.’, Molecular Pharmacology, 59 (2001), 929-38 .
‘The Role of a Conserved Inter-transmembrane Domain Interface in Regulating Alpha(2a)-adrenergic Receptor Conformational Stability and Cell-surface Turnover.’, Molecular Pharmacology, 59 (2001), 929-38 .
ʻPsychoactive substance use disorders in adults with attention deficit hyperactivity disorder (ADHD): Effects of ADHD and psychiatric comorbidity.ʼ American journal psychiatry 1995; 152:1652-1658.
Xenitidis, K, Elena Paliokosta, E Rose, S Maltezos, and J Bramham, ‘ADHD Symptom Presentation and Trajectory in Adults with Borderline and Mild Intellectual Disability.’, Journal of Intellectual Disability Research : JIDR, 54 (2010), 668-77 .
Zabel, U, J Vilardaga, H Schindelin, M J Lohse, and C Hoffmann, ‘Fluorescence Resonance Energy Transfer Analysis of ␣ 2a-Adrenergic Receptor Activation Reveals Distinct Agonist-Specific Conformational Changes’, 75 (2009), 534-541 .
Ziarih Hawi, Natasha Matthews, Edwina Barry, Aiveen Kirley, Joseph Wagner, Robyn H. Wallace, Helen S. Heussler, Alasdair Vance, Michael Gill, Mark A. Bellgrove, ' A high density linkage disequilibrium mapping in 14 noradrenergic genes: evidence of association between SLC6A2, ADRA1B and ADHD.', Psychopharmacology 2013; 225:895-902.
Castro Taryn, Mateus Heidi Eliana, Fonseca Dora, Forero Diego, Restrepo Carlos Martin, Talero Claudia, Vélez-van-Meerbeke A, Laissue Paul. ´ Sequence analysis of the ADRA2A coding region in children affected by attention deficit hyperactivity disorder.´Neurol Sci. 2013 Dec;34(12):2219-22. doi: 10.1007/s10072-013-1569-4. Epub 2013 Nov 1.
Repositorio EdocUR-U. Rosario
Universidad del Rosario
instacron:Universidad del Rosario

El trastorno de hiperactividad y déficit de atención (THDA), es definido clínicamente como una alteración en el comportamiento, caracterizada por inatención, hiperactividad e impulsividad. Estos aspectos son clasificados en tres subtipos, que so

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ebd088075bc8e3b70d590373634bb43
http://repository.urosario.edu.co/handle/10336/9608

Uso de la Hibridación Genómica Comparativa-Array (HGC-a) en pacientes con retraso global del desarrollo y fenotipo particular. Revisión sistemática de la literatura

Autor: Clavijo Hurtado, Sergio

Publikováno v: Weatherall DJ. The inherited diseases of hemoglobin are an emerging global health burden. Blood 2010; 115 (22): 4331-6.
Benaiges RG. La citogenética en la valoración dismórfica. BSCP Can Ped 2004; 28: 195-199.
Hochstenbach R, et al. Array analysis and karyotyping: Workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands. European Journal of Medical Genetics 52 (2009) 161–169
Miller DT, et al. Consensus statement: Chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. The American Journal of Human Genetics 86, 749–764, May 14, 2010.
Zarante I, Franco L, López C, Fernández N. Frecuencia de malformaciones congénitas: evaluación y pronóstico de 52.744 nacimientos en tres ciudades colombianas. Biomédica 2010; 30:65-71
Zarante I, López MA, Caro A, García JC, Ospina JC. Impact and risk factors of craniofacial malformations in a Colombian population. International Journal of Pediatric Otorhinolaryngology 73 (2009) 1434–1437
Parra M, Schepeler M, Quiroz L. Cromosomopatías. Unidad Medicina Fetal, Hospital Universitario de Chile, 2000
Aviña JA, Wilson BT. Dysmorphic syndrome of multiple congenital abnormalities: Current classification updated. Revista Mexicana de Pediatría. Vol. 76, Núm 3. Mayo/Junio 2009. 132-135
Moeschler JB, Shevell M. Clinical genetic evaluation of the child with mental retardation or developmental delays. Pediatrics 2006; 117 (6).
Casanelles MdC, García F, Reyes D, García A. Enfoque diagnóstico del niño dismórfico. Protocolos diagnósticos y terapéuticos en Pediatría. Neonatología. España, 2008
Poot M, Hochstenbach R. A three-step workflow procedure for the interpretation of array-based comparative genome hybridization results in patients with idiopathic mental retardation and congenital anomalies. Genetics IN Medicine, Volume 12, Number 8, August 2010
Friedman JM, et al. Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization. BMC Genomics 2009, 10:526
Shevell MI, Bejjani BA, Srour M, Rorem EA, Hall N, Shaffer LG. Array comparative genomic hybridization in global developmental delay. Am J Med Genet B Neuropsychiatr Genet 2008; 147B (7): 1101-8.
Newman WG, Hamilton S, Ayres J, Sanghera N, Smith A, Gaunt L, et al. Array comparative genomic hybridization for diagnosis of developmental delay: an exploratory cost-consequences analysis. Clin Genet 2007; 71 (3): 254-9.
Shaw-Smith C, Pittman AM, Willatt L, Martin H, Rickman L, Gribble S, et al. Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability. Nat Genet 2006; 38 (9): 1032-7.
Ness GO, Lybaek H, Houge G. Usefulness of high-resolution comparative genomic hybridization (CGH) for detecting and characterizing constitutional chromosome abnormalities. Am J Med Genet 2002; 113 (2): 125-36.
Repositorio EdocUR-U. Rosario
Universidad del Rosario
instacron:Universidad del Rosario

Introducción: la hibridación genómica comparativa en una técnica que permite la exploración de las anormalidades cromosómicas. Su utilidad en la aproximación de los pacientes con retraso global del desarrollo o fenotipo dismórfico, sin embarg

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b0d75e4ff29fec617c1f888896c40c6
http://repository.urosario.edu.co/handle/10336/4219