Publicaciones

Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility factor for mental retardation

Marzo 1, 2007

Torres-Juan L, Rosell J, Morla M, Vidal-Pou C, García-Algas F, de la Fuente MA, Juan M, Tubau A, Bachiller D, Bernues M, Perez-Granero A, Govea N, Busquets X, Heine-Suñer D. Eur J Hum Genet. 2007 Jun;15(6):658-63. Epub 2007 Mar 21

Spectrum of mutations in the CFTR gene in cystic fibrosis patients of Spanish ancestry

Marzo 1, 2007

Alonso MJ, Heine-Suñer D, Calvo M, Rosell J, Giménez J, Ramos MD, Telleria JJ, Palacio A, Estivill X, Casals T. Ann Hum Genet. 2007 Mar;71(Pt 2):194-201

First report of a patient with a mixoploidy 47,XXX/94,XXXXXX

Marzo 1, 2007

Rodríguez Criado G, Galán Gómez E, Tizzano EF, García Rodríguez E, Gómez de Terreros I. Genet Couns. 2007;18(1):99-104

Intrauterine growth retardation, duodenal and extrahepatic biliary atresia, hypoplastic pancreas and other intestinal anomalies: further evidence of the Martínez-Frías syndrome

Marzo 1, 2007

Galán-Gómez E, Sánchez EB, Arias-Castro S, Cardesa-García JJ. Eur J Med Genet. 2007 Mar-Apr;50(2):144-8

Publicaciones

Orden según fecha de publicación:

Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility factor for mental retardation

Spectrum of mutations in the CFTR gene in cystic fibrosis patients of Spanish ancestry

First report of a patient with a mixoploidy 47,XXX/94,XXXXXX

Intrauterine growth retardation, duodenal and extrahepatic biliary atresia, hypoplastic pancreas and other intestinal anomalies: further evidence of the Martínez-Frías syndrome