Zobrazeno 1 - 10
of 95
pro vyhledávání: '"I López Pajares"'
Autor:
P. Lapunzina Badía, M.ªL. de Torres Perezhidalgo, L. García-Guereta Silva, M.ªA. Mori Álvarez, A. Sharif, G. Cross, M. Palomares Bralo, L. Fernández García-Moya, A. Delicado Navarro, I. López Pajares, P. García Sánchez
Publikováno v:
Anales de Pediatría, Vol 64, Iss 6, Pp 578-582 (2006)
Introducción: Los síndromes cardiomiélicos comprenden cardiopatías congénitas y malformaciones esqueléticas de los miembros superiores, y están relacionados con mutaciones deletéreas de factores de transcripción con dominios del tipo T-Box.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f063e9eab420e88e607957e0fc3e6c0b
https://doi.org/10.1157/13089924
https://doi.org/10.1157/13089924
Autor:
I López Pajares, C. Amiñoso, Pablo Lapunzina, Alicia Delicado, J Arcas, A Martínez Bermejo, Luis Morís Fernández, María Palomares, D Arjona
Publikováno v:
Clinical Genetics. 69:228-233
Subtelomeric rearrangements not visible by conventional cytogenetic analysis have been reported to occur in approximately 5% of patients with unexplained mental retardation (MR). As the prevalence of MR is high, many patients need to be screened for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::73cf2ffe14477fc93a430908bb9cceea
https://doi.org/10.1111/j.1399-0004.2006.00567.x
https://doi.org/10.1111/j.1399-0004.2006.00567.x
Autor:
Luis Fernández, Olaya Villa, María Ángeles Mori, I López Pajares, Isabel Vallcorba, Pablo Lapunzina, M. Salido, María Palomares, M. L. De Torres, Alicia Delicado, Aurelio González
Publikováno v:
Prenatal Diagnosis. 26:535-538
Background Euchromatic imbalances at the cytogenetic level are usually associated with phenotypic consequences. Among the exceptions are euchromatic variants of chromosome 16 (16p+) with normal phenotype. There is a growing list of euchromatic duplic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13fbc45e7910cb79124d3958bfffa67b
https://doi.org/10.1002/pd.1454
https://doi.org/10.1002/pd.1454
Autor:
Luis Morís Fernández, M. L. De Torres, I López Pajares, María Ángeles Mori, María Palomares, D Elorza, Alicia Delicado, Margarita Burgueros, D Arjona, Pablo Lapunzina, Luis García-Guereta, A. García-Alix
Publikováno v:
Clinical Genetics. 68:373-378
The 22q11.2 deletion syndrome is commonly diagnosed using fluorescence in situ hybridization (FISH) with commercial probes. The chromosomal breakpoints and deletion size are subsequently characterized by short tandem repeat (STR) segregation tests or
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c6f254691a3c186b066ddff1230f2926
https://doi.org/10.1111/j.1399-0004.2005.00493.x
https://doi.org/10.1111/j.1399-0004.2005.00493.x
Autor:
M. L. De Torres, Pablo Lapunzina, María Ángeles Mori, R. F. Pérez-Pacheco, I López Pajares, Alicia Delicado
Publikováno v:
The Journal of Maternal-Fetal & Neonatal Medicine. 12:64-66
We report on two abortuses with hydrocephalus due to congenital stenosis of the aqueduct of Silvius. The occurrence of this disorder in two siblings (a male and a female) with normal parents supports the autosomal recessive pattern of inheritance. Su
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5093980723dbb9af85265ae9f2a1f906
https://doi.org/10.1080/jmf.12.1.64.66
https://doi.org/10.1080/jmf.12.1.64.66
Autor:
R. M. Zumel, P. Garcia de Miguel, Alicia Delicado, A. Diaz de Bustamante, M. L. De Torres, I López Pajares, María Teresa Darnaude
Publikováno v:
Cancer Genetics and Cytogenetics. 45:35-39
A girl aged 4 years 3 months with sporadic unilateral Wilms' tumor associated with Wiedemann-Beckwith syndrome, but without aniridia, was found to have a t(X;20) in the tumor cells. Karyotypes of peripheral blood of the patient and her parents were n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ddbf70a4961c8f66e5eb686e7ce237c4
https://doi.org/10.1016/0165-4608(90)90063-g
https://doi.org/10.1016/0165-4608(90)90063-g
Autor:
L, Fernández García-Moya, P, Lapunzina Badía, A, Delicado Navarro, A, Sharif, G, Cross, Ma A, Mori Alvarez, M L, de Torres Perezhidalgo, M, Palomares Bralo, P, García Sánchez, L, García-Guereta Silva, I, López Pajares
Publikováno v:
Anales de pediatria (Barcelona, Spain : 2003). 64(6)
Cardiomyelic syndromes encompass congenital heart disease and skeletal malformations of the upper limbs and are related to mutations in transcription factors with T-Box domains. Holt-Oram syndrome is caused by a dominant mutation in the TBX5 gene tha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::83097dc6fe0e88fdfa1cfab27e48eebe
https://pubmed.ncbi.nlm.nih.gov/16792966
https://pubmed.ncbi.nlm.nih.gov/16792966
Autor:
M, Palomares, A, Delicado, P, Lapunzina, D, Arjona, C, Amiñoso, J, Arcas, A, Martinez Bermejo, L, Fernández, I, López Pajares
Publikováno v:
Clinical genetics. 69(3)
Subtelomeric rearrangements not visible by conventional cytogenetic analysis have been reported to occur in approximately 5% of patients with unexplained mental retardation (MR). As the prevalence of MR is high, many patients need to be screened for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b6b26a5a0fa43967565261c604e1bbd9
https://pubmed.ncbi.nlm.nih.gov/16542387
https://pubmed.ncbi.nlm.nih.gov/16542387
Publikováno v:
Anales espanoles de pediatria. 49(4)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1f1ad7498619f25dfa0ef95a871dea5c
https://pubmed.ncbi.nlm.nih.gov/9859558
https://pubmed.ncbi.nlm.nih.gov/9859558
Autor:
Didier Lacombe, Michael B. Petersen, Milan Macek, Göran Annerén, Gunnar Houge, Sofia Kitsiou-Tzeli, Aspasia Tsezou, Anne Moncla, Niels Clausen, Karen Brøndum-Nielsen, Michel Vekemans, Gabriela von Beust, I López Pajares, Dimitris Avramopoulos, Elisabeth Blennow, Johanne M D Hahnemann, Angeliki Galla-Voumvouraki, Maria Grigoriadou, Georgia Karadima, Philippos C. Patsalis, Eberhard Passarge, Dimitris Vassilopoulos, Konstantin Miller, Peter Nicolaidis, Beate Albrecht, Marguerite Prieur, Jens Michael Hertz, Merete Bugge, Miloslav Kuklík
Publikováno v:
Scopus-Elsevier
Causes of chromosomal nondisjunction is one of the remaining unanswered questions in human genetics. In order to increase our understanding of the mechanisms underlying nondisjunction we have performed a molecular study on trisomy 8 and trisomy 8 mos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72b8606637eec0cb52ed3c5d7d8c1897
https://pubmed.ncbi.nlm.nih.gov/9801867
https://pubmed.ncbi.nlm.nih.gov/9801867