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
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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.
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
Duplication 19q13-qter and deletion 19p13-pter arising from an inversion (19)(p13.3q13.3) of maternal origin
López-Exposito I, Guillén-Navarro E, Bafallíu JA, Bernabé MC, Escalona A, Fuster C. Eur J Med Genet. 2006 Nov-Dec;49(6):511-5. Epub 2006 Jun 23
