Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: clinical, pathological, and molecular findings
Mariño-Enríquez A, Lapunzina P, Robertson SP, Rodríguez JI. Am J Med Genet A. 2007 May 15;143A(10):1120-5
Analysis of meiotic recombination in 22q11.2, a region that frequently undergoes deletions and duplications
Torres-Juan L, Rosell J, Sánchez-de-la-Torre M, Fibla J, Heine-Suñer D.BMC Med Genet. 2007 Apr 2;8:14
Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome
Narumi Y, Aoki Y, Niihori T, Neri G, Cavé H, Verloes A, Nava C, Kavamura MI, Okamoto N, Kurosawa K, Hennekam RC, Wilson LC, Gillessen-Kaesbach G, Wieczorek D, Lapunzina P, Ohashi H, Makita Y, Kondo I, Tsuchiya S, Ito E, Sameshima K, Kato K, Kure S, Matsubara Y. Am J Med Genet A. 2007 Apr…
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
