Publicaciones

Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor

Enero 1, 2008

Ali A, Christie PT, Grigorieva IV, Harding B, Van Esch H, Ahmed SF, Bitner-Glindzicz M, Blind E, Bloch C, Christin P, Clayton P, Gecz J, Gilbert-Dussardier B, Guillen-Navarro E, Hackett A, Halac I, Hendy GN, Lalloo F, Mache CJ, Mughal Z, Ong AC, Rinat C, Shaw N, Smithson SF, Tolmie J, Weill J, Nesbit MA,…

Detalles

Genetics and pathogenesis of inherited ataxias and spastic paraplegias

Marzo 1, 2009

Espinós C, Palau F. Adv Exp Med Biol. 2009;652:263-96. Review

Germinal mosaicism in Simpson-Golabi-Behmel syndrome

Octubre 1, 2007

Romanelli V, Arroyo I, Rodriguez JI, Magano L, Arias P, Incera I, Gracia-Bouthelier R, Lapunzina P. Clin Genet. 2007 Oct;72(4):384-65

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

Enero 1, 2006

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.

Publicaciones

Orden según fecha de publicación:

Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor

Genetics and pathogenesis of inherited ataxias and spastic paraplegias

Germinal mosaicism in Simpson-Golabi-Behmel syndrome

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