Categoría: Publicaciones

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

Novel human pathological mutations. Gene symbol: CHM. Disease: choroideraemia

Sotos syndrome is associated with leukemia/lymphoma

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

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

Molecular diagnosis of Beckwith-Wiedemann syndrome using quantitative methylation-sensitive polymerase chain reaction

Coffee B, Muralidharan K, Highsmith WE Jr, Lapunzina P, Warren ST. Genet Med. 2006 Oct;8(10):628-34

Epidemiology of FASD in a province in Italy: Prevalence and characteristics of children in a random sample of schools