Archivo diario: Marzo 1, 2007

Small supernumerary marker chromosome causing partial trisomy 6p in a child with craniosynostosis

Villa O, Del Campo M, Salido M, Gener B, Astier L, Del Valle J, Gallastegui F, Pérez-Jurado LA, Solé F. Am J Med Genet A. 2007 May 15;143A(10):1108-13

Clinical delineation of fetal alcohol spectrum disorders (FASD) in Italian children: comparison and contrast with other racial/ethnic groups and implications for diagnosis and prevention

Ceccanti M, Alessandra Spagnolo P, Tarani L, Luisa Attilia M, Chessa L, Mancinelli R, Stegagno M, Francesco Sasso G, Romeo M, Jones KL, Robinson LK, Del Campo M, Phillip Gossage J, May PA, Eugene Hoyme H. Neurosci Biobehav Rev. 2007;31(2):270-7

dup(1)(q21q32) as a sole cytogenetic event is associated to a leukemic transformation in myelodysplastic syndromes

Alfaro R, Pérez-Granero A, Durán MA, Besalduch J, Rosell J, Bernués M. Leuk Res. 2008 Jan;32(1):159-61. Epub 2007 May 16

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

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

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

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

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

Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation

Deardorff MA, Kaur M, Yaeger D, Rampuria A, Korolev S, Pie J, Gil-Rodríguez C, Arnedo M, Loeys B, Kline AD, Wilson M, Lillquist K, Siu V, Ramos FJ, Musio A, Jackson LS, Dorsett D, Krantz ID. Am J Hum Genet. 2007 Mar;80(3):485-94.8

A missense mutation in the chloride/proton ClC-5 antiporter gene results in increased expression of an alternative mRNA form that lacks exons 10 and 11. Identification of seven new CLCN5 mutations in patients with Dent’s disease