Williams syndrome: its clinical aspects and molecular bases
Antonell A, Del Campo M, Flores R, Campuzano V, Perez-Jurado LA. Rev Neurol. 2006 Jan 7;42 Suppl 1:S69-75. Review. Spanish1
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Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension
Del Campo M, Antonell A, Magano LF, Muñoz FJ, Flores R, Bayés M, Pérez Jurado LA. Am J Hum Genet. 2006 Apr;78(4):533-42. Epub 2006 Jan 31.
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
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
