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
Ramos-Trujillo E, González-Acosta H, Flores C, García-Nieto V, Guillén E, Gracia S, Vicente C, Espinosa L, Maseda MA, Santos F, Camacho JA, Claverie-Martín F. J Hum Genet. 2007;52(3):255-61
Novel human pathological mutations. Gene symbol: CHM. Disease: choroideraemia
Villaverde C, Trujillo-Tiebas MJ, Garcia-Hoyos M, Perez N, Narvaiza RC, Guillén E, Ayuso C. Hum Genet. 2007 Jun;121(5):648
Sotos syndrome is associated with leukemia/lymphoma
Martínez-Glez V, Lapunzina P. Am J Med Genet A. 2007 Jun 1;143A(11):1244-5
The G397A (E133K) change in the AGGF1 (VG5Q) gene is a single nucleotide polymorphism in the Spanish population
Gutierrez S, Magano L, Delicado A, Mori MA, de Torres ML, Fernández L, Palomares M, Fernández E, Tarduchy GR, Molano J, Gracia R, Pajares IL, Lapunzina P. Am J Med Genet A. 2006 Dec 15;140(24):2832-3.
DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis
Lorenz-Depiereux B, Bastepe M, Benet-Pagès A, Amyere M, Wagenstaller J, Müller-Barth U, Badenhoop K, Kaiser SM, Rittmaster RS, Shlossberg AH, Olivares JL, Loris C, Ramos FJ, Glorieux F, Vikkula M, Jüppner H, Strom TM. Nat Genet. 2006 Nov;38(11):1248-50
Microdeletion and microduplication 22q11.2 screening in 295 patients with clinical features of DiGeorge/Velocardiofacial syndrome
Brunet A, Gabau E, Perich RM, Valdesoiro L, Brun C, Caballín MR, Guitart M. Am J Med Genet A. 2006 Nov 15;140(22):2426-32
Imprinting center analysis in Prader-Willi and Angelman syndrome patients with typical and atypical phenotypes
Camprubí C, Coll MD, Villatoro S, Gabau E, Kamli A, Martínez MJ, Poyatos D, Guitart M. Eur J Med Genet. 2007 Jan-Feb;50(1):11-20. Epub 2006 Oct 10
