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Carrier frequency of SMA by quantitative analysis of the SMN1 deletion in the Iranian population

Junio 1, 2009

Hasanzad M, Azad M, Kahrizi K, Saffar BS, Nafisi S, Keyhanidoust Z, Azimian M, Refah AA, Also E, Urtizberea JA, Tizzano EF, Najmabadi H. Eur J Neurol. 2010 Jan;17(1):160-2. Epub 2009 Jun 15

Capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry and partial/generalized overgrowth (CLAPO): report of six cases of a new syndrome/association

Octubre 1, 2008

López-Gutiérrez JC, Lapunzina P. Am J Med Genet A. 2008 Oct 15;146A(20):2583-8

BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1

Diciembre 1, 2009

Brunet A, Armengol L, Heine D, Rosell J, García-Aragonés M, Gabau E, Estivill X, Guitart M. BMC Med Genet. 2009 Dec 23;10:144

Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder

Febrero 1, 2009

Cuscó I, Medrano A, Gener B, Vilardell M, Gallastegui F, Villa O, González E, Rodríguez-Santiago B, Vilella E, Del Campo M, Pérez-Jurado LA. Hum Mol Genet. 2009 May 15;18(10):1795-804. Epub 2009 Feb 26