Categoría: Publicaciones

PAR1 deletions downstream of SHOX are the most frequent defect in a Spanish cohort of Léri-Weill dyschondrosteosis (LWD) probands

Benito-Sanz S, del Blanco DG, Aza-Carmona M, Magano LF, Lapunzina P, Argente J, Campos-Barros A, Heath KE. Hum Mutat. 2006 Oct;27(10):1062

Two independent mutations of the SMN1 gene in the same spinal muscular atrophy family branch: lessons for carrier diagnosis

Barceló MJ, Alias L, Caselles L, Robles Y, Baiget M, Tizzano EF. Genet Med. 2006 Apr;8(4):259-62

Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension

Williams syndrome: its clinical aspects and molecular bases

Duplication 19q13-qter and deletion 19p13-pter arising from an inversion (19)(p13.3q13.3) of maternal origin

Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2

Prenatal diagnosis of de novo deletions of 8p23.1 or 15q26.1 in two fetuses with diaphragmatic hernia and congenital heart defects

Fragile X syndrome

lóver-López G, Guillén-Navarro E. Rev Neurol. 2006 Jan 7;42 Suppl 1:S51-4.

Monogenic causes of X-linked mental retardation

Guillén-Navarro E, Glóver-López G. Rev Neurol. 2006 Jan 7;42 Suppl 1:S45-9

Preventing neural tube defects in Europe: a missed opportunity

Busby A, Abramsky L, Dolk H, Armstrong B, Addor MC, Anneren G, Armstrong N, Baguette A, Barisic I, Berghold A, Bianca S, Braz P, Calzolari E, Christiansen M, Cocchi G, Daltveit AK, De Walle H, Edwards G, Gatt M, Gener B, Gillerot Y, Gjergja R, Goujard J, Haeusler M, Latos-Bielenska A, McDonnell R, Neville A,…