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of 2
pro vyhledávání: '"Investigaciones [Enfermedades de los niños recién nacidos]"'
Autor:
Prada Rico, Mayerly
Publikováno v:
Repositorio EdocUR-U. Rosario
Universidad del Rosario
instacron:Universidad del Rosario
Universidad del Rosario
instacron:Universidad del Rosario
Introducción: Determinamos la proporción de resolución espontánea de RVU primario en una población de niños menores de 5 años así como los factores que influyen y predicen tal resolución, con base en lo cual diseñamos un nomograma que permi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f100df4b0637c651ea28e48cc6a90811
Autor:
Amado González, Paula
Publikováno v:
Alonso MJ, Heine-Sunyer D, Calvo M, Rosell J, Giménez J, Ramos MD, y cols. (2007) Spectrum of mutations in the CFTR gene in Cystic fibrosis patients of Spanish ancestry. Ann Hum Genet; 71: 194–201
Alper Ö. M, Wong L-J, Young S, Pearl M, Graham S, Sherwin J, Nussbaum E, Nielson D, Platzker A, Daviess Z, Lieberthal A, Chin T, Shay G, Hardy K, Kharrazi M. (2004) Identification of Novel and Rare Mutations in California Hispanic and African American Cystic Fibrosis Patients. HUMAN MUTATION Mutation in Brief; 24: 353-365
Barak A, Dulitzki M, Efrati O, Augarten A, Szeinberg A, Reichert N. (2004) Pregnancies and outcome in women with cystic fibrosis. IMAJ; 7: 95-98
Bear, C. E., Li, C. H., Kartner, N., Bridges, R. J., Jensen, T. J., Ramjeesingh, M. y cols. (1992). Purification and functional reconstitution of the cystic fibrosis transmembrane conductance regulator (CFTR). Cell; 68(4), 809−818.
Bobadilla J.L, Macek M, Fine J.P, Farrell P.M. (2002) Cystic Fibrosis: A Worldwide Analysis of CFTR Mutations.Correlation With Incidence Data and Application to Screening. Human Mutation; 19: 575-606
Boucher R.C. (2004) New concepts of the pathogenesis of cystic fibrosis lung disease. Eur Respir J.; 23(1):146-158.
Bowling F.G, Watson A.R.A, Rylatt D.B, Elliot J.E, Bunch R.J, Bundesen P.G. (1987) Monoclonal antibody-based trypsinogen enzyme immunoassay for screening of neonates for CF. Lancet; i: 826–827.
Briel M, Greger R, Kunzelmann K. (1998) Cl-transport by cystic fibrosis transmembrane conductance regulator (CFTR) contributes to the inhibition of epitelial Na+ channels (ENaCs) in Xenopus oocytes co-expressing CFTR and ENaC. Journal of Physiology; 508.3: 825—836
Cardoso H, Crispino B, Mimbacas A, Cardoso M.E. (2004) A low prevalence of cystic fibrosis in Uruguayans of mainly European descent. Genet Mol Res. 30;3(2):258-63.
Carrillo J.C.(1986) Detección de Hipotiroidismo Congénito en Colombia. Acta Pediátrica Colombiana; IV:(1);31-37
Castellani C, Bonizzato A, Cabrini G, Mastella G. (1997) Newborn screening strategy for cystic fibrosis: a field study in an area with high allelic heterogeneity. Acta Paediatr; 86: 497-502
Hudson V.M. (2001) Rethinking cystic fibrosis pathology: the critical role of abnormal reduced glutathione (GSH) transport caused by CFTR mutation. Free Radical Biology and Medicine; 30: 1440-1461
Jay L, Mateus H, Fonseca D, Restrepo C.M, Keyeux G. (2006) PCR-heterodúplex por agrupamiento: Implementación de un método de identificación de portadores de la mutación más común causal de fibrosis quística en Colombia. Colombia Medica; 37: 176-182
Kammesheidt A, Kharrazi M, Graham S, Young S, Pearl M, Dunlop C, Keiles S. (2006) Comprehensive genetic analysis of the Cystic Fibrosis Transmembrane Conductance Regulator From Dried Blood Specimens-Implications For Newborn Screening. Genetics In Medicine; 8: 557-562
Kerem B-S, Rommens J.M, Buchanan J.A, Markiewicz D, Cox T.K, Chakravarti A, Buchwald M, Tsui L-C. (1989) Identification of the Cystic Fibrosis Gene: Genetic Analysis. Science; 245: 1073-1079
Keyeux G, Rodas C, Gelvez N, Carter D. (2002) Possible migration routes into South America deduced from mitochondrial DNA studies in Colombian Amerindian populations. Hum Biol.; 74(2):211-33.
Keyeux G, Rodas C, Bienvenu T, Garavito P, Vidaud D, Sanchez D, Kaplan J-C, Aristizabal G. (2003) CFTR Mutations in Patients from Colombia: Implications for Local and Regional Molecular Diagnosis Programs. Human Mutation; 22: 259-268
Kleven D.T, McCudden C.R, Willis M.S (2008) Cystic fibrosis: newborn screening in America. Medical Laboratory Observer; 40: 16-27
Kloosterboer M, Hoffman G, Rock M, Gershan W, Laxova A, Li Z, Farrell P.M. (2009) Clarification of Laboratory and Clinical Variables That Influence Cystic Fibrosis Newborn Screening With Initial Analysis of Immunoreactive Trypsinogen. Pediatrics; 123 (2): e338-e346
Kreindler J.L. (2010) Cystic fibrosis: Exploiting its Genetic Basis in the Hunt for New Therapies. Pharmacology & Therapeutics; 125: 219–229
Landsteiner K. (1905) Darmverschluss durch eingedicktes Meconium. Pankreatitis. Centr. Allg. Pathol.;16: 903–907
Löhr J.M, Hummel F.M, Pirilis K.T, y cols. (2009) Properties of different pancreatin preparations used in pancreatic exocrine insufficiency. Eur J Gastroenterol Hepatol; 21(9): 1024-1031
Layer P, Keller J, Lankisch P.G. (2001) Pancreatic enzyme replacement therapy. Curr Gastroenterol Rep.;3(2):101-108.
Lesser J. (2006) La Negociación del Concepto de Nación en un Brasil Étnico: Los Inmigrantes Sirio-Libaneses y Nikkei y la Reestructuración de la Identidad Nacional. In: Wehr, Ingrid, editor. Un Continente en Movimiento: Migraciones en América Latina. Madrid, Spain: Editorial Iberoamericana; p. 19-38.
Li L, Zhou Y, Bell C.J, Earley M.C, Hannon W.H, Mei J.V (2006) Development and Characterization of Dried Blood Spot Materials for the Measurement of Immunoreactive Trypsinogen. J Med Screen; 13:79-84
Lima Leâo L, Burle de Aguiar M.J. (2008) Newborn screening: what pediatricians should know. Jornal de Pediatria; 84 (4 Suppl): S80-90
Liou T.G, Rubenstein R.C. (2009) Carrier Screening, Incidence of Cystic Fibrosis, and Difficult Decisions. JAMA; 302:2595-2596
Maclean JE, Solomon M, Corey M, Selvadurai H (2011) Cystic fibrosis newborn screening does not delay the identification of cystic fibrosis in children with negative results. J Cyst Fibros.;10(5):333-337
Malcolm S. (1990) Recent Advances in the Molecular Analysis of Inherited Disease. Eur. J. Biochem; 194, 317-321
Massie R. J, Wilcken B, Van Asperen P, Dorney S, Gruca M, Wiley V, Gaskin K. (2000) Pancreatic function and extended mutation analysis in DeltaF508 heterozygous infants with an elevated immunoreactive trypsinogen but normal sweat electrolyte levels. J Pediatr.;137(2):214-220
Massie J, Curnow L, Tzanakos N, Francis I, Robertson C.F. (2006) Markedly elevated neonatal immunoreactive trypsinogen levels in the absence of cystic fibrosis gene mutations is not an indication for further testing. Arch Dis Child.;91(3):222-225
Mateus, H.E (2005) Identificación de mutaciones y correlación genotipo-fenotipo en pacientes colombianos afectados por Fibrosis Quística. Tesis de Grado Maestría Genética Humana. Universidad Nacional de Colombia.
Mateus, H.E, Fonseca D.J, Sanchez L.S, Peñaloza I.F, Forero D.V, Perdomo P.A, Quiasua y cols. (2007) Frecuencia de la mutación F508del en estudiantes de la Facultad de Medicina de la Universidad del Rosario, Bogotá, Colombia. Colombia Médica. 38: 352-356
Mayell, S. J, Munck, A, Craig J. V, Sermet, I, Brownlee, K. G, Schwarz, M. J, Castellani, C, Southern, K. W; European Cystic Fibrosis Society Neonatal Screening Working Group (2009) A European consensus for the evaluation and management of infants with an equivocal diagnosis following newborn screening for cystic fibrosis. J Cyst Fibros; 8(1):71-78
Mishra A, Greaves R, Smith K, Carlin J.B, Wootton A, Stirling R, Massie J. (2008) Diagnosis of cystic fibrosis by sweat testing: age-specific reference intervals. J Pediatr.;153(6):758-763
Mogayzel P.J, Flume P.A. (2009) Update in Cystic Fibrosis 2009. Am J Repir Crit Care Med; 181: 539-544
Oller A.M, Ramos M.D, JImenez J, Ghio A, Melano M, Rezzonico C.A, Marques I, Pereyro S, Casals T, Dodelson R. (2006) Mutational spectrum of cystic fibrosis patients from Córdoba province and its zone of influence: Implications of molecular diagnosis in Argentina. Molecular Genetics and Metabolism; 87: 370–375
Monestrol I, Klint A, Sparen P, Hjelte L. (2011) Age at diagnosis and disease progression of cystic fibrosis in an area without newborn screening. Paediatric and Perinatal Epidemiology, 25(3), 298–305
Montgomery J, Wittwer C. T, Kent J. O, Zhou L. (2007) Scanning the cystic fibrosis transmembrane conductance regulator gene using high-resolution DNA melting analysis. Clin Chem.;53(11): 1891-1898
Moskowitz S, Chmiel J, Sternen D, Cheng E, Cutting G. (2008) CFTR-Related Disorders. GeneReviews/NCBI/NIH/UW
National Institutes of Health Consensus Development Conference Statement on genetic testing for cystic fibrosis. (1999) Genetic testing for cystic fibrosis. Arch Intern Med.;159 (14):1529-39.
Ntimbane T, Comte B, Mailhot G, Berthiaume, Poitout V, Prentki M, Rabasa-Lhoret R, Levy E. (2008) Cystic Fibrosis-Related Diabetes: From CFTR Dysfunction to Oxidative Stress. Clin Biochem Rev.; 30: 153-169.
Orozco I, Velasquez R, Zielenski J, Tsui L.C, Chavez M, Lezana J.L y cols. (2000) Spectrum of CFTR mutations in Mexican cystic fibrosis patients: identification of five novel mutations (W1098C, 849delT, P750L, 4160insGGGG and 297-1G>A) Hum Genet; 106: 360-365
O`Sullivan B.P, Freedman S.D. (2009) Cystic fibrosis. Lancet; 373: 1891–904
Ott C.J, Blackledge N.P, Leir S-H, Harris A. (2009) Novel regulatory mechanisms for the CFTR gene. Biochemical Basis of Respiratory Disease ; 37: 843–848
Pérez M, Luna M, Pivetta O, Keyeux G. (2006) CFTR gene analysis in Latin American CF patients: Heterogeneous Origin and Distribution of Mutations Across the Continent. Journal of Cystic Fibrosis; 6: 194-208.
Pitt J. (2010) Newborn Screening. Clin Biochem Rev; 31: 57-68
Price J. F. (2006) Newborn Screening for Cystic Fibrosis: Do we Need a Second IRT? Arch Dis Child.; 91(3): 209-210.
Quinton P.M. (1999) Physiological Basis of Cystic Fibrosis: A Historical Perspective. Physiological Reviews; 79: S3-S14
Restrepo C.M, Pineda L, Rojas-Martınez A, Gutierrez C.A, Morales A, Gomez Y, Villalobos M.C, Borjas L, Delgado W, Myers A, y Barrera-Saldana H.A. (2000) CFTR Mutations in Three Latin American Countries. American Journal of Medical Genetics; 91:277–279.
Raskin S, Pereira-Ferrari L, Reis F. C, Abreu F, Marostica P, Rozov T, Cardieri J, Ludwig N, Valentin L y cols. (2008) Incidence of cystic fibrosis in five different states of Brazil as determined by screening of p.F508del, mutation at the CFTR gene in newborns and patients. Journal of Cystic Fibrosis; 7: 15–22
Rock M. J, Hoffman G, Laessig R. H, Kopish G. J, Litsheim T. J, Farrell P. M. (2005) Newborn screening for cystic fibrosis in Wisconsin: nine-year experience with routine trypsinogen/DNA testing. J Pediatr.; 147(3 Suppl): S73-77
Raskin S, Phillips J.A, Krishnamani M.R, Vnencak-Jones C, Parker R.A, Rozov T, y cols (1992) Cystic fibrosis genotyping by direct PCR analysis of Guthrie blood Sports. Am J Med Genet 1992; 46:665-669
Riordan J.R, Rommens J.M, Kerem Bat-Sheva, Alon N, Rozmahel R, Grzelczak Z, Zielenski J, Lok S, Plavsic N, Chou J.L, Drumm M.L, Iannuzzi M.C, Collins F.S, Tsui L.C (1989) Identification of the Cystic Fibrosis Gene: Cloning and Characterization of Complimentary DNA. Science; 245: 1066-1072
Rodas C, Gelvez N, Keyeux G. (2003) Mitochondrial DNA studies show asymmetrical Amerindian admixture in Afro-Colombian and Mestizo populations. Hum Biol.; 75 (1):13-30.
Rodrigues R, Gabetta C.S, Pedro K.P, Valdetaro F, Fernandez M, Magalâes P, Januario J, Maciel L. (2008) Cystic Fibrosis and Neonatal Screening. Cad. Saúde Pública, Rio de Janeiro; 24 Sup 4: S475-S484
Rodríguez Z, Veloza L, Baena J, Ramos E, Gómez C, Gómez D. (2009) Parámetros Hematológicos de Pacientes con Fibrosis Quística de la Costa Caribe Colombiana: Análisis y Asociación con Aislamiento de Pseudomonas aeruginosa. Ciencias Biomédicas; 7: 92-102
Rommens J.M, Ianuzzi M.C, Kerem B-S, Drumm M.L, Melmer G, Dean M, Rozmahel R, Cole J.L, Kennedy D, Hidaka N, Zsiga M, Buchwald M, Riordan J.R, Tsui L-C, Collins, F.S. (1989) Identification of the Cystic Fibrosis Gene: Chromosome Walking and Jumping. Science; 245: 1059-1065
Rottner M, Freyssinet J-M, Martinez M.C. (2009) Mechanisms of the noxious inflammatory cycle in cystic fibrosis. Respiratory Research; 10: 23
Ross L. F. (2008) Newborn Screening for Cystic Fibrosis: a Lesson in Public Health Disparities. J Pediatr.; 153(3): 308-313
Rowe S. M, Miller S, Sorscher E.J. (2005) Cystic Fibrosis. N Engl J Med; 352: 1992-2001
Rowntree R. K and Harris A. (2003) The Phenotypic Consequences of CFTR Mutations. Annals of Human Genetics; 67: 471–485
Ryley H. C, Robinson P. G, Yamashiro Y, Bradley D. M. (1981) Assay of serum immunoreactive trypsin in dried blood spots and the early detection of cystic fibrosis. J Clin Pathol.; 34(8): 906-910
Sánchez I, Pérez M.A, Boza M.L, Lezana V., Vila M.A, Repetto G y cols. (2001) Consenso Nacional de Fibrosis Quística. Rev Chil Pediatr.; 22(4): 356-380
Sands D, Zybert K, Nowakowska A. (2010) Cystic fibrosis newborn screening enables diagnosis of elder siblings of recalled infants--additional benefit. Folia Histochemica et Cytobiologica; 48 (1): 163-165
Satizabal J.M, Erazo M.L, Solorzano M.C, Herrera E, Velez O, Lopez P. (2001) Tamizaje Neonatal de Hipotiroidismo Congénito en Colombia: ¿Qué muestra utilizar? Acta Biológica Colombiana; 6(2): 71-73
Southern K.W, Munck A, Pollitt R, Travert G, Zanolla L, Dankert-Roelse J, et al. (2007) A survey of newborn screening for cystic fibrosis in Europe. J Cyst Fibros; 6: 57–65
Schwiebert E.M, Benos D.J, Egan M.E, Stutts M.J, Guggino W.B (1999) CFTR is a conductance regulator as well as a chloride channel. Physiol Rev.;79(1 Suppl):S145-66
Sikkens E.C.M, Cahen D.L, Kuipers E,J, Bruno M.J. (2010) Pancreatic enzyme replacement therapy in chronic pancreatitis. Best Practice & Research Clinical Gastroenterology; 24: 337-347
Sims E.J., Clark A, McCormick J, Mehta G, Connett G, Mehta A. (2007) Cystic Fibrosis Diagnosed After 2 Months of Age Leads to Worse Outcomes and Requires More Therapy. Pediatrics; 119 (1); 19-28
Sontag M.K, Hammond K.B, Zielenski J, Wagener J.S, Accurso F.J. (2005) Two-Tiered Immunoreactive Trypsinogen-Based Newborn Screening For Cystic Fibrosis In Colorado: Screening Efficacy And Diagnostic Outcomes. J Pediatr; 147:S83-S88
Southern K.W y Peckham D. (2004) Establishing a diagnosis of Cystic Fibrosis. Chronic Respiratory Disease; 1: 205–210
Southern K.W, Mérelle M.M, Dankert-Roelse J.E, Nagelkerke A.D. (2009) Newborn screening for cystic fibrosis. Cochrane Database Syst Rev;(1):CD001402
Soultan Z. N, Foster M. M, Newman N. B, Anbar R. D. (2008) Sweat Chloride Testing in Infants Identified as Heterozygote Carriers by Newborn Screening. J Pediatr. ; 153(6): 857-859
Stephan U, Busch E.W, Kollberg H, Hellsing K. (1975) Cystic fibrosis detection by means of a test strip. Pediatrics; 55: 35–38
Sugarman E.A, Rohlfs E.M, Silverman L.M, Allitto B.A. (2004) CFTR mutation distribution among U.S. Hispanic and African American individuals: Evaluation in cystic fibrosis patient and carrier screening populations. Genetics in Medicine; 6: 392-399
Turnbull E.L, Rosser M, Cyr D.M. (2007) The role of the UPS in cystic fibrosis. BMC Biochemistry; 8: S1-S11
Tsui L.-C., Buchwald M, Barker D, Braman J.C, Knowlton R, Schumm J.W, Eiberg H, Mohr J, Kennedy D, Plavsic N. (1985) Cystic fibrosis locus defined by a genetically linked polymorphic DNA marker. Science; 230: 1054–1057
Vásquez C, Aristizábal R, Daza W. (2008) Fibrosis Quística en Colombia. www.neumologia-pediatrica.cl
Waqlkowiak J, Sands D, Nowakowska A, Piotrowski R, Zybert Katarzyna, Herzig K-H MIlanowski A. (2005) Early Decline of Pancreatic Function in Cystic Fibrosis Patients with Class 1 or 2 CFTR Mutations. Journal of Pediatric Gastroenterology and Nutrition; 40:199–201
Wang W, Wu J, Bernard K, Li G, Wang G, Bevensee M. O, Kirk K. L. (2010) ATP-independent CFTR channel gating and allosteric modulation by phosphorylation. PNAS; 107: 3888-3893
Castellani C, Picci L, Tamanini A. (2009) Association Between Carrier Screening and Incidence of Cystic Fibrosis JAMA; 302:2573-2579
Watson MS, Cutting GR, Desnick RJ, Driscoll DA, Klinger K, Mennuti M, y cols. (2004) Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Genet Med 2004; 6: 387–391
Whitcomb D.C. (2010) Genetic Aspects of Pancreatitis. Annual Reviews; 61: 413-424
Wilcken B. (2007) Newborn screening for cystic fibrosis: techniques and strategies. J Inherit Metab Dis; 30(4): 537-543
Xu W.M, Chen J., Chen H., Diao R.Y, Fok K.L, Dong J.D y cols (2011) Defective CFTR-Dependent CREB Activation Results in Impaired Spermatogenesis and Azoospermia. PLoS ONE 6(5): e19120. doi:10.1371/journal.pone.0019120
Zielenski J. (2000) Genotype and Phenotype in Cystic Fibrosis. Respiration; 67:117–133
Collazo T, Magarino C, Chavez R, Suardiaz B, Gispert S, Gomez M, Rojo M y cols. (1995) Frequency of delta-F508 mutation and XV2C/KM19 haplotypes in Cuban cystic fibrosis families. Hum Hered; 45: 55-57
Comeau A.M, Accurso F.J, White T. B, Campbell P. W, Hoffman G, Parad R.B, Wilfond B. S, Rosenfeld M, Sontag M. K, Massie J, Farrel P. M, O´Sullivan B.P. (2007) Guidelines for Implementation of Cystic Fibrosis Newborn Screening Programs: Cystic Fibrosis Foundation Workshop Report PEDIATRICS: 119: e495-e519
Cyr D.M. (2005) Arrest of CFTR F508 folding. Nature Structural & Molecular Biology; 12: 2-3
Chakraborty R, Srinivasan M.R, Raskint S. (1993) Estimation of the Incidence of a Rare Genetic Disease through a Two-Tier Mutation Survey. Am.J. Hum. Genet; 52:1129-1138
Chambers L.A, Rollins B.M, Tarran R. (2007) Liquid Movement Across the Surface Epithelium of Large Airways. Respir Physiol Neurobiol; 159(3): 256–270.
Crossley J.R, Elliott R.B, Smith P.A. (1979) Dried-blood spot screening for cystic fibrosis in the newborn. Lancet; 1:472–474
D´Alessandro V, Renteria F, Fernandez A, Martinez, M.I, Segal E. (2009) Comparación del estado clínico-funcional en niños con Fibrosis Quística detectados por pesquisa neonatal o por síntomas clínicos. Arch Argent Pediatr; 107(5):430-435
Da Paula A.C, Sousa M, Xu Zhe, Dawson E.S, Boyd A.C, Sheppard D.N, Amaral M.D. (2010) Folding and Rescue of a CFTR Trafficking Mutant Identified Using Human-Murine Chimeric Proteins. The Journal of Biological Chemistry; 285: 27033-27044
Dankert-Roelse, Mérelle ME. (2005) Review of outcomes of neonatal screening for cystic fibrosis versus non-screening in Europe. J Pediatr; 147(3 Suppl):S15-20
Davis P.B. (2006) Cystic Fibrosis Since 1938. Am J Respir Crit Care Med; 173: 475–482
Dawson K.P, Frossard P.M. (2000) The Geographic Distribution of Cystic Fibrosis Mutations Gives Clues About Population Origins. Eur J Pediatr; 159: 496-499
De Boeck K, Wilschanski M, Castellani C, Taylor C, Cuppens H, Dodge J, Sinaasappel M. (2006) Cystic fibrosis: terminology and diagnostic algorithms. Thorax; 61: 627–635
Dequeker E, Stuhrmann M, Morris M, Casals T, Castellani C, Claustres M, Cuppens H, des Georges M, Ferec C, Macek M, Pignatti P.F, Scheffer H, Schwartz M, Witt M, Schwarz M y Girodon E. (2009) Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations. European Journal of Human Genetics; 17:51–65
de Gracia J, Mata F, Alvarez A, Casals T, Gatner S, Vendrell M, de la Rosa D, Guarner L, Hermosilla E. (2005) Genotype-phenotype correlation for pulmonary function in CF Thorax; 60: 558–563
Di Sant’Agnese P. A., Darling R. C, Perera G. A y Shea E. (1953) Abnormal electrolyte composition of sweat in cystic fibrosis of the pancreas. Pediatrics; 12: 549–563
Du K, Sharma M y Lukac G.L. (2005) The F508 cystic fibrosis mutation impairs domaindomain interactions and arrests post-translational folding of CFTR. Nature Structural & Molecular Biology; 12: 17-25
Du M, Liu X, Welch E. M, Hirawat S, Peltz S. W, Bedwell D. M. (2008) PTC124 is an Orally Bioavailable Compound that Promotes Suppression of the Human CFTR-G542X Nonsense Allele in a CF Mouse Model. Proc Natl Acad Sci U S A.;105(6): 2064-2069
Durand J y Massey D.S. (2010) New World Orders: Continuities and Changes in Latin American Migration Ann Am Acad Pol Soc Sci.; 630(1): 20–52
Farber S. (1945) Some organic digestive disturbances in early life. J.Mich State. Med. Soc.; 44: 587–594
Farrell P.M, Rosenstein B.J, White T.B y cols. (2008) Guidelines for Diagnosis of Cystic Fibrosis in Newborns Through Older Adults: Cystic Fibrosis Foundation Consensus Report. J Pediatr; 153(2): S4-S14
Farrell P.M, Ksorok M.R, Rock M.J y cols. (2002) Lung disease in patients with cystic fibrosis diagnosed through neonatal screening or after delays associated with traditional methods. Pediatr Pulmonol; S24:319.
Gadsby D.C, Vergani P, Csanády L. (2006) The ABC Protein Turned Chloride Channel Whose Failure Causes Cystic Fibrosis. Nature; 440: 477-483
Gregg R.G, Wilfond B.S, Farrell P.M, Laxova A, Hassemer D, Mischlert E.H. (1993) Application of DNA Analysis in a Population-screening Program for Neonatal Diagnosis of Cystic Fibrosis (CF): Comparison of Screening Protocols. Am. J. Hum. Genet; 52: 616-626
Gregg R.G, Simantel A, Farrell P.M, Koscik R, Kosorok M.R, Laxova A, Laessig R, Hoffman G, Hassemer D, Mischler E.H, Splaingard M. (1997)Newborn Screening for Cystic Fibrosis in Wisconsin: Comparison of Biochemical and Molecular Methods. PEDIATRICS; 99: 819-824
Grody W.W, Cutting G.R, Klinger K.W, Richards C.S, Watson M.S, Desnick R.J. (2001) Laboratory standards and guidelines for population based cystic fibrosis carrier screening. Genetics in Medicine; 3: 149-154
Hammond K.B, Abman S.H, Sokol R.J, Accurso F.J. (1991) Efficacy of statewide neonatal screening for cystic fibrosis by assay of trypsinogen concentrations. N Engl J Med.;325(11): 769-774
Hale J.E, Parad R.B, Comeau A.M. (2008) Newborn Screening Showing Decreasing Incidence of Cystic Fibrosis. NEJM; 358: 973-974
Huang P, Gilmore E, Kultgen P, Barnes P, Milgram S, Stutts M.J. (2004) Local Regulation of Cystic Fibrosis Transmembrane Regulator and Epithelial Sodium Channel in Airway Epithelium. Proc Am Thorac Soc; 1: 33–37
Repositorio EdocUR-U. Rosario
Universidad del Rosario
instacron:Universidad del Rosario
Alper Ö. M, Wong L-J, Young S, Pearl M, Graham S, Sherwin J, Nussbaum E, Nielson D, Platzker A, Daviess Z, Lieberthal A, Chin T, Shay G, Hardy K, Kharrazi M. (2004) Identification of Novel and Rare Mutations in California Hispanic and African American Cystic Fibrosis Patients. HUMAN MUTATION Mutation in Brief; 24: 353-365
Barak A, Dulitzki M, Efrati O, Augarten A, Szeinberg A, Reichert N. (2004) Pregnancies and outcome in women with cystic fibrosis. IMAJ; 7: 95-98
Bear, C. E., Li, C. H., Kartner, N., Bridges, R. J., Jensen, T. J., Ramjeesingh, M. y cols. (1992). Purification and functional reconstitution of the cystic fibrosis transmembrane conductance regulator (CFTR). Cell; 68(4), 809−818.
Bobadilla J.L, Macek M, Fine J.P, Farrell P.M. (2002) Cystic Fibrosis: A Worldwide Analysis of CFTR Mutations.Correlation With Incidence Data and Application to Screening. Human Mutation; 19: 575-606
Boucher R.C. (2004) New concepts of the pathogenesis of cystic fibrosis lung disease. Eur Respir J.; 23(1):146-158.
Bowling F.G, Watson A.R.A, Rylatt D.B, Elliot J.E, Bunch R.J, Bundesen P.G. (1987) Monoclonal antibody-based trypsinogen enzyme immunoassay for screening of neonates for CF. Lancet; i: 826–827.
Briel M, Greger R, Kunzelmann K. (1998) Cl-transport by cystic fibrosis transmembrane conductance regulator (CFTR) contributes to the inhibition of epitelial Na+ channels (ENaCs) in Xenopus oocytes co-expressing CFTR and ENaC. Journal of Physiology; 508.3: 825—836
Cardoso H, Crispino B, Mimbacas A, Cardoso M.E. (2004) A low prevalence of cystic fibrosis in Uruguayans of mainly European descent. Genet Mol Res. 30;3(2):258-63.
Carrillo J.C.(1986) Detección de Hipotiroidismo Congénito en Colombia. Acta Pediátrica Colombiana; IV:(1);31-37
Castellani C, Bonizzato A, Cabrini G, Mastella G. (1997) Newborn screening strategy for cystic fibrosis: a field study in an area with high allelic heterogeneity. Acta Paediatr; 86: 497-502
Hudson V.M. (2001) Rethinking cystic fibrosis pathology: the critical role of abnormal reduced glutathione (GSH) transport caused by CFTR mutation. Free Radical Biology and Medicine; 30: 1440-1461
Jay L, Mateus H, Fonseca D, Restrepo C.M, Keyeux G. (2006) PCR-heterodúplex por agrupamiento: Implementación de un método de identificación de portadores de la mutación más común causal de fibrosis quística en Colombia. Colombia Medica; 37: 176-182
Kammesheidt A, Kharrazi M, Graham S, Young S, Pearl M, Dunlop C, Keiles S. (2006) Comprehensive genetic analysis of the Cystic Fibrosis Transmembrane Conductance Regulator From Dried Blood Specimens-Implications For Newborn Screening. Genetics In Medicine; 8: 557-562
Kerem B-S, Rommens J.M, Buchanan J.A, Markiewicz D, Cox T.K, Chakravarti A, Buchwald M, Tsui L-C. (1989) Identification of the Cystic Fibrosis Gene: Genetic Analysis. Science; 245: 1073-1079
Keyeux G, Rodas C, Gelvez N, Carter D. (2002) Possible migration routes into South America deduced from mitochondrial DNA studies in Colombian Amerindian populations. Hum Biol.; 74(2):211-33.
Keyeux G, Rodas C, Bienvenu T, Garavito P, Vidaud D, Sanchez D, Kaplan J-C, Aristizabal G. (2003) CFTR Mutations in Patients from Colombia: Implications for Local and Regional Molecular Diagnosis Programs. Human Mutation; 22: 259-268
Kleven D.T, McCudden C.R, Willis M.S (2008) Cystic fibrosis: newborn screening in America. Medical Laboratory Observer; 40: 16-27
Kloosterboer M, Hoffman G, Rock M, Gershan W, Laxova A, Li Z, Farrell P.M. (2009) Clarification of Laboratory and Clinical Variables That Influence Cystic Fibrosis Newborn Screening With Initial Analysis of Immunoreactive Trypsinogen. Pediatrics; 123 (2): e338-e346
Kreindler J.L. (2010) Cystic fibrosis: Exploiting its Genetic Basis in the Hunt for New Therapies. Pharmacology & Therapeutics; 125: 219–229
Landsteiner K. (1905) Darmverschluss durch eingedicktes Meconium. Pankreatitis. Centr. Allg. Pathol.;16: 903–907
Löhr J.M, Hummel F.M, Pirilis K.T, y cols. (2009) Properties of different pancreatin preparations used in pancreatic exocrine insufficiency. Eur J Gastroenterol Hepatol; 21(9): 1024-1031
Layer P, Keller J, Lankisch P.G. (2001) Pancreatic enzyme replacement therapy. Curr Gastroenterol Rep.;3(2):101-108.
Lesser J. (2006) La Negociación del Concepto de Nación en un Brasil Étnico: Los Inmigrantes Sirio-Libaneses y Nikkei y la Reestructuración de la Identidad Nacional. In: Wehr, Ingrid, editor. Un Continente en Movimiento: Migraciones en América Latina. Madrid, Spain: Editorial Iberoamericana; p. 19-38.
Li L, Zhou Y, Bell C.J, Earley M.C, Hannon W.H, Mei J.V (2006) Development and Characterization of Dried Blood Spot Materials for the Measurement of Immunoreactive Trypsinogen. J Med Screen; 13:79-84
Lima Leâo L, Burle de Aguiar M.J. (2008) Newborn screening: what pediatricians should know. Jornal de Pediatria; 84 (4 Suppl): S80-90
Liou T.G, Rubenstein R.C. (2009) Carrier Screening, Incidence of Cystic Fibrosis, and Difficult Decisions. JAMA; 302:2595-2596
Maclean JE, Solomon M, Corey M, Selvadurai H (2011) Cystic fibrosis newborn screening does not delay the identification of cystic fibrosis in children with negative results. J Cyst Fibros.;10(5):333-337
Malcolm S. (1990) Recent Advances in the Molecular Analysis of Inherited Disease. Eur. J. Biochem; 194, 317-321
Massie R. J, Wilcken B, Van Asperen P, Dorney S, Gruca M, Wiley V, Gaskin K. (2000) Pancreatic function and extended mutation analysis in DeltaF508 heterozygous infants with an elevated immunoreactive trypsinogen but normal sweat electrolyte levels. J Pediatr.;137(2):214-220
Massie J, Curnow L, Tzanakos N, Francis I, Robertson C.F. (2006) Markedly elevated neonatal immunoreactive trypsinogen levels in the absence of cystic fibrosis gene mutations is not an indication for further testing. Arch Dis Child.;91(3):222-225
Mateus, H.E (2005) Identificación de mutaciones y correlación genotipo-fenotipo en pacientes colombianos afectados por Fibrosis Quística. Tesis de Grado Maestría Genética Humana. Universidad Nacional de Colombia.
Mateus, H.E, Fonseca D.J, Sanchez L.S, Peñaloza I.F, Forero D.V, Perdomo P.A, Quiasua y cols. (2007) Frecuencia de la mutación F508del en estudiantes de la Facultad de Medicina de la Universidad del Rosario, Bogotá, Colombia. Colombia Médica. 38: 352-356
Mayell, S. J, Munck, A, Craig J. V, Sermet, I, Brownlee, K. G, Schwarz, M. J, Castellani, C, Southern, K. W; European Cystic Fibrosis Society Neonatal Screening Working Group (2009) A European consensus for the evaluation and management of infants with an equivocal diagnosis following newborn screening for cystic fibrosis. J Cyst Fibros; 8(1):71-78
Mishra A, Greaves R, Smith K, Carlin J.B, Wootton A, Stirling R, Massie J. (2008) Diagnosis of cystic fibrosis by sweat testing: age-specific reference intervals. J Pediatr.;153(6):758-763
Mogayzel P.J, Flume P.A. (2009) Update in Cystic Fibrosis 2009. Am J Repir Crit Care Med; 181: 539-544
Oller A.M, Ramos M.D, JImenez J, Ghio A, Melano M, Rezzonico C.A, Marques I, Pereyro S, Casals T, Dodelson R. (2006) Mutational spectrum of cystic fibrosis patients from Córdoba province and its zone of influence: Implications of molecular diagnosis in Argentina. Molecular Genetics and Metabolism; 87: 370–375
Monestrol I, Klint A, Sparen P, Hjelte L. (2011) Age at diagnosis and disease progression of cystic fibrosis in an area without newborn screening. Paediatric and Perinatal Epidemiology, 25(3), 298–305
Montgomery J, Wittwer C. T, Kent J. O, Zhou L. (2007) Scanning the cystic fibrosis transmembrane conductance regulator gene using high-resolution DNA melting analysis. Clin Chem.;53(11): 1891-1898
Moskowitz S, Chmiel J, Sternen D, Cheng E, Cutting G. (2008) CFTR-Related Disorders. GeneReviews/NCBI/NIH/UW
National Institutes of Health Consensus Development Conference Statement on genetic testing for cystic fibrosis. (1999) Genetic testing for cystic fibrosis. Arch Intern Med.;159 (14):1529-39.
Ntimbane T, Comte B, Mailhot G, Berthiaume, Poitout V, Prentki M, Rabasa-Lhoret R, Levy E. (2008) Cystic Fibrosis-Related Diabetes: From CFTR Dysfunction to Oxidative Stress. Clin Biochem Rev.; 30: 153-169.
Orozco I, Velasquez R, Zielenski J, Tsui L.C, Chavez M, Lezana J.L y cols. (2000) Spectrum of CFTR mutations in Mexican cystic fibrosis patients: identification of five novel mutations (W1098C, 849delT, P750L, 4160insGGGG and 297-1G>A) Hum Genet; 106: 360-365
O`Sullivan B.P, Freedman S.D. (2009) Cystic fibrosis. Lancet; 373: 1891–904
Ott C.J, Blackledge N.P, Leir S-H, Harris A. (2009) Novel regulatory mechanisms for the CFTR gene. Biochemical Basis of Respiratory Disease ; 37: 843–848
Pérez M, Luna M, Pivetta O, Keyeux G. (2006) CFTR gene analysis in Latin American CF patients: Heterogeneous Origin and Distribution of Mutations Across the Continent. Journal of Cystic Fibrosis; 6: 194-208.
Pitt J. (2010) Newborn Screening. Clin Biochem Rev; 31: 57-68
Price J. F. (2006) Newborn Screening for Cystic Fibrosis: Do we Need a Second IRT? Arch Dis Child.; 91(3): 209-210.
Quinton P.M. (1999) Physiological Basis of Cystic Fibrosis: A Historical Perspective. Physiological Reviews; 79: S3-S14
Restrepo C.M, Pineda L, Rojas-Martınez A, Gutierrez C.A, Morales A, Gomez Y, Villalobos M.C, Borjas L, Delgado W, Myers A, y Barrera-Saldana H.A. (2000) CFTR Mutations in Three Latin American Countries. American Journal of Medical Genetics; 91:277–279.
Raskin S, Pereira-Ferrari L, Reis F. C, Abreu F, Marostica P, Rozov T, Cardieri J, Ludwig N, Valentin L y cols. (2008) Incidence of cystic fibrosis in five different states of Brazil as determined by screening of p.F508del, mutation at the CFTR gene in newborns and patients. Journal of Cystic Fibrosis; 7: 15–22
Rock M. J, Hoffman G, Laessig R. H, Kopish G. J, Litsheim T. J, Farrell P. M. (2005) Newborn screening for cystic fibrosis in Wisconsin: nine-year experience with routine trypsinogen/DNA testing. J Pediatr.; 147(3 Suppl): S73-77
Raskin S, Phillips J.A, Krishnamani M.R, Vnencak-Jones C, Parker R.A, Rozov T, y cols (1992) Cystic fibrosis genotyping by direct PCR analysis of Guthrie blood Sports. Am J Med Genet 1992; 46:665-669
Riordan J.R, Rommens J.M, Kerem Bat-Sheva, Alon N, Rozmahel R, Grzelczak Z, Zielenski J, Lok S, Plavsic N, Chou J.L, Drumm M.L, Iannuzzi M.C, Collins F.S, Tsui L.C (1989) Identification of the Cystic Fibrosis Gene: Cloning and Characterization of Complimentary DNA. Science; 245: 1066-1072
Rodas C, Gelvez N, Keyeux G. (2003) Mitochondrial DNA studies show asymmetrical Amerindian admixture in Afro-Colombian and Mestizo populations. Hum Biol.; 75 (1):13-30.
Rodrigues R, Gabetta C.S, Pedro K.P, Valdetaro F, Fernandez M, Magalâes P, Januario J, Maciel L. (2008) Cystic Fibrosis and Neonatal Screening. Cad. Saúde Pública, Rio de Janeiro; 24 Sup 4: S475-S484
Rodríguez Z, Veloza L, Baena J, Ramos E, Gómez C, Gómez D. (2009) Parámetros Hematológicos de Pacientes con Fibrosis Quística de la Costa Caribe Colombiana: Análisis y Asociación con Aislamiento de Pseudomonas aeruginosa. Ciencias Biomédicas; 7: 92-102
Rommens J.M, Ianuzzi M.C, Kerem B-S, Drumm M.L, Melmer G, Dean M, Rozmahel R, Cole J.L, Kennedy D, Hidaka N, Zsiga M, Buchwald M, Riordan J.R, Tsui L-C, Collins, F.S. (1989) Identification of the Cystic Fibrosis Gene: Chromosome Walking and Jumping. Science; 245: 1059-1065
Rottner M, Freyssinet J-M, Martinez M.C. (2009) Mechanisms of the noxious inflammatory cycle in cystic fibrosis. Respiratory Research; 10: 23
Ross L. F. (2008) Newborn Screening for Cystic Fibrosis: a Lesson in Public Health Disparities. J Pediatr.; 153(3): 308-313
Rowe S. M, Miller S, Sorscher E.J. (2005) Cystic Fibrosis. N Engl J Med; 352: 1992-2001
Rowntree R. K and Harris A. (2003) The Phenotypic Consequences of CFTR Mutations. Annals of Human Genetics; 67: 471–485
Ryley H. C, Robinson P. G, Yamashiro Y, Bradley D. M. (1981) Assay of serum immunoreactive trypsin in dried blood spots and the early detection of cystic fibrosis. J Clin Pathol.; 34(8): 906-910
Sánchez I, Pérez M.A, Boza M.L, Lezana V., Vila M.A, Repetto G y cols. (2001) Consenso Nacional de Fibrosis Quística. Rev Chil Pediatr.; 22(4): 356-380
Sands D, Zybert K, Nowakowska A. (2010) Cystic fibrosis newborn screening enables diagnosis of elder siblings of recalled infants--additional benefit. Folia Histochemica et Cytobiologica; 48 (1): 163-165
Satizabal J.M, Erazo M.L, Solorzano M.C, Herrera E, Velez O, Lopez P. (2001) Tamizaje Neonatal de Hipotiroidismo Congénito en Colombia: ¿Qué muestra utilizar? Acta Biológica Colombiana; 6(2): 71-73
Southern K.W, Munck A, Pollitt R, Travert G, Zanolla L, Dankert-Roelse J, et al. (2007) A survey of newborn screening for cystic fibrosis in Europe. J Cyst Fibros; 6: 57–65
Schwiebert E.M, Benos D.J, Egan M.E, Stutts M.J, Guggino W.B (1999) CFTR is a conductance regulator as well as a chloride channel. Physiol Rev.;79(1 Suppl):S145-66
Sikkens E.C.M, Cahen D.L, Kuipers E,J, Bruno M.J. (2010) Pancreatic enzyme replacement therapy in chronic pancreatitis. Best Practice & Research Clinical Gastroenterology; 24: 337-347
Sims E.J., Clark A, McCormick J, Mehta G, Connett G, Mehta A. (2007) Cystic Fibrosis Diagnosed After 2 Months of Age Leads to Worse Outcomes and Requires More Therapy. Pediatrics; 119 (1); 19-28
Sontag M.K, Hammond K.B, Zielenski J, Wagener J.S, Accurso F.J. (2005) Two-Tiered Immunoreactive Trypsinogen-Based Newborn Screening For Cystic Fibrosis In Colorado: Screening Efficacy And Diagnostic Outcomes. J Pediatr; 147:S83-S88
Southern K.W y Peckham D. (2004) Establishing a diagnosis of Cystic Fibrosis. Chronic Respiratory Disease; 1: 205–210
Southern K.W, Mérelle M.M, Dankert-Roelse J.E, Nagelkerke A.D. (2009) Newborn screening for cystic fibrosis. Cochrane Database Syst Rev;(1):CD001402
Soultan Z. N, Foster M. M, Newman N. B, Anbar R. D. (2008) Sweat Chloride Testing in Infants Identified as Heterozygote Carriers by Newborn Screening. J Pediatr. ; 153(6): 857-859
Stephan U, Busch E.W, Kollberg H, Hellsing K. (1975) Cystic fibrosis detection by means of a test strip. Pediatrics; 55: 35–38
Sugarman E.A, Rohlfs E.M, Silverman L.M, Allitto B.A. (2004) CFTR mutation distribution among U.S. Hispanic and African American individuals: Evaluation in cystic fibrosis patient and carrier screening populations. Genetics in Medicine; 6: 392-399
Turnbull E.L, Rosser M, Cyr D.M. (2007) The role of the UPS in cystic fibrosis. BMC Biochemistry; 8: S1-S11
Tsui L.-C., Buchwald M, Barker D, Braman J.C, Knowlton R, Schumm J.W, Eiberg H, Mohr J, Kennedy D, Plavsic N. (1985) Cystic fibrosis locus defined by a genetically linked polymorphic DNA marker. Science; 230: 1054–1057
Vásquez C, Aristizábal R, Daza W. (2008) Fibrosis Quística en Colombia. www.neumologia-pediatrica.cl
Waqlkowiak J, Sands D, Nowakowska A, Piotrowski R, Zybert Katarzyna, Herzig K-H MIlanowski A. (2005) Early Decline of Pancreatic Function in Cystic Fibrosis Patients with Class 1 or 2 CFTR Mutations. Journal of Pediatric Gastroenterology and Nutrition; 40:199–201
Wang W, Wu J, Bernard K, Li G, Wang G, Bevensee M. O, Kirk K. L. (2010) ATP-independent CFTR channel gating and allosteric modulation by phosphorylation. PNAS; 107: 3888-3893
Castellani C, Picci L, Tamanini A. (2009) Association Between Carrier Screening and Incidence of Cystic Fibrosis JAMA; 302:2573-2579
Watson MS, Cutting GR, Desnick RJ, Driscoll DA, Klinger K, Mennuti M, y cols. (2004) Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Genet Med 2004; 6: 387–391
Whitcomb D.C. (2010) Genetic Aspects of Pancreatitis. Annual Reviews; 61: 413-424
Wilcken B. (2007) Newborn screening for cystic fibrosis: techniques and strategies. J Inherit Metab Dis; 30(4): 537-543
Xu W.M, Chen J., Chen H., Diao R.Y, Fok K.L, Dong J.D y cols (2011) Defective CFTR-Dependent CREB Activation Results in Impaired Spermatogenesis and Azoospermia. PLoS ONE 6(5): e19120. doi:10.1371/journal.pone.0019120
Zielenski J. (2000) Genotype and Phenotype in Cystic Fibrosis. Respiration; 67:117–133
Collazo T, Magarino C, Chavez R, Suardiaz B, Gispert S, Gomez M, Rojo M y cols. (1995) Frequency of delta-F508 mutation and XV2C/KM19 haplotypes in Cuban cystic fibrosis families. Hum Hered; 45: 55-57
Comeau A.M, Accurso F.J, White T. B, Campbell P. W, Hoffman G, Parad R.B, Wilfond B. S, Rosenfeld M, Sontag M. K, Massie J, Farrel P. M, O´Sullivan B.P. (2007) Guidelines for Implementation of Cystic Fibrosis Newborn Screening Programs: Cystic Fibrosis Foundation Workshop Report PEDIATRICS: 119: e495-e519
Cyr D.M. (2005) Arrest of CFTR F508 folding. Nature Structural & Molecular Biology; 12: 2-3
Chakraborty R, Srinivasan M.R, Raskint S. (1993) Estimation of the Incidence of a Rare Genetic Disease through a Two-Tier Mutation Survey. Am.J. Hum. Genet; 52:1129-1138
Chambers L.A, Rollins B.M, Tarran R. (2007) Liquid Movement Across the Surface Epithelium of Large Airways. Respir Physiol Neurobiol; 159(3): 256–270.
Crossley J.R, Elliott R.B, Smith P.A. (1979) Dried-blood spot screening for cystic fibrosis in the newborn. Lancet; 1:472–474
D´Alessandro V, Renteria F, Fernandez A, Martinez, M.I, Segal E. (2009) Comparación del estado clínico-funcional en niños con Fibrosis Quística detectados por pesquisa neonatal o por síntomas clínicos. Arch Argent Pediatr; 107(5):430-435
Da Paula A.C, Sousa M, Xu Zhe, Dawson E.S, Boyd A.C, Sheppard D.N, Amaral M.D. (2010) Folding and Rescue of a CFTR Trafficking Mutant Identified Using Human-Murine Chimeric Proteins. The Journal of Biological Chemistry; 285: 27033-27044
Dankert-Roelse, Mérelle ME. (2005) Review of outcomes of neonatal screening for cystic fibrosis versus non-screening in Europe. J Pediatr; 147(3 Suppl):S15-20
Davis P.B. (2006) Cystic Fibrosis Since 1938. Am J Respir Crit Care Med; 173: 475–482
Dawson K.P, Frossard P.M. (2000) The Geographic Distribution of Cystic Fibrosis Mutations Gives Clues About Population Origins. Eur J Pediatr; 159: 496-499
De Boeck K, Wilschanski M, Castellani C, Taylor C, Cuppens H, Dodge J, Sinaasappel M. (2006) Cystic fibrosis: terminology and diagnostic algorithms. Thorax; 61: 627–635
Dequeker E, Stuhrmann M, Morris M, Casals T, Castellani C, Claustres M, Cuppens H, des Georges M, Ferec C, Macek M, Pignatti P.F, Scheffer H, Schwartz M, Witt M, Schwarz M y Girodon E. (2009) Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations. European Journal of Human Genetics; 17:51–65
de Gracia J, Mata F, Alvarez A, Casals T, Gatner S, Vendrell M, de la Rosa D, Guarner L, Hermosilla E. (2005) Genotype-phenotype correlation for pulmonary function in CF Thorax; 60: 558–563
Di Sant’Agnese P. A., Darling R. C, Perera G. A y Shea E. (1953) Abnormal electrolyte composition of sweat in cystic fibrosis of the pancreas. Pediatrics; 12: 549–563
Du K, Sharma M y Lukac G.L. (2005) The F508 cystic fibrosis mutation impairs domaindomain interactions and arrests post-translational folding of CFTR. Nature Structural & Molecular Biology; 12: 17-25
Du M, Liu X, Welch E. M, Hirawat S, Peltz S. W, Bedwell D. M. (2008) PTC124 is an Orally Bioavailable Compound that Promotes Suppression of the Human CFTR-G542X Nonsense Allele in a CF Mouse Model. Proc Natl Acad Sci U S A.;105(6): 2064-2069
Durand J y Massey D.S. (2010) New World Orders: Continuities and Changes in Latin American Migration Ann Am Acad Pol Soc Sci.; 630(1): 20–52
Farber S. (1945) Some organic digestive disturbances in early life. J.Mich State. Med. Soc.; 44: 587–594
Farrell P.M, Rosenstein B.J, White T.B y cols. (2008) Guidelines for Diagnosis of Cystic Fibrosis in Newborns Through Older Adults: Cystic Fibrosis Foundation Consensus Report. J Pediatr; 153(2): S4-S14
Farrell P.M, Ksorok M.R, Rock M.J y cols. (2002) Lung disease in patients with cystic fibrosis diagnosed through neonatal screening or after delays associated with traditional methods. Pediatr Pulmonol; S24:319.
Gadsby D.C, Vergani P, Csanády L. (2006) The ABC Protein Turned Chloride Channel Whose Failure Causes Cystic Fibrosis. Nature; 440: 477-483
Gregg R.G, Wilfond B.S, Farrell P.M, Laxova A, Hassemer D, Mischlert E.H. (1993) Application of DNA Analysis in a Population-screening Program for Neonatal Diagnosis of Cystic Fibrosis (CF): Comparison of Screening Protocols. Am. J. Hum. Genet; 52: 616-626
Gregg R.G, Simantel A, Farrell P.M, Koscik R, Kosorok M.R, Laxova A, Laessig R, Hoffman G, Hassemer D, Mischler E.H, Splaingard M. (1997)Newborn Screening for Cystic Fibrosis in Wisconsin: Comparison of Biochemical and Molecular Methods. PEDIATRICS; 99: 819-824
Grody W.W, Cutting G.R, Klinger K.W, Richards C.S, Watson M.S, Desnick R.J. (2001) Laboratory standards and guidelines for population based cystic fibrosis carrier screening. Genetics in Medicine; 3: 149-154
Hammond K.B, Abman S.H, Sokol R.J, Accurso F.J. (1991) Efficacy of statewide neonatal screening for cystic fibrosis by assay of trypsinogen concentrations. N Engl J Med.;325(11): 769-774
Hale J.E, Parad R.B, Comeau A.M. (2008) Newborn Screening Showing Decreasing Incidence of Cystic Fibrosis. NEJM; 358: 973-974
Huang P, Gilmore E, Kultgen P, Barnes P, Milgram S, Stutts M.J. (2004) Local Regulation of Cystic Fibrosis Transmembrane Regulator and Epithelial Sodium Channel in Airway Epithelium. Proc Am Thorac Soc; 1: 33–37
Repositorio EdocUR-U. Rosario
Universidad del Rosario
instacron:Universidad del Rosario
La Fibrosis Quística es la enfermedad autosómica recesiva mas frecuente en caucásicos. En Colombia no se conoce la incidencia de la enfermedad, pero investigaciones del grupo de la Universidad del Rosario indican que podría ser relativamente alta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::237b480e948a117eca058c960fe95346
http://repository.urosario.edu.co/handle/10336/3616
http://repository.urosario.edu.co/handle/10336/3616