Publicaciones

Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene

Diciembre 1, 2008

Alías L, Bernal S, Fuentes-Prior P, Barceló MJ, Also E, Martínez-Hernández R, Rodríguez-Alvarez FJ, Martín Y, Aller E, Grau E, Peciña A, Antiñolo G, Galán E, Rosa AL, Fernández-Burriel M, Borrego S, Millán JM, Hernández-Chico C, Baiget M, Tizzano EF. Hum Genet. 2009 Feb;125(1):29-39. Epub 2008 Dec 3.

Aicardi-Goutières syndrome. Review of the genetic bases and their mechanisms

Noviembre 1, 2008

Sanchis Calvo A, Cerveró Martí L, Martínez Frías ML. An Pediatr (Barc). 2008 Nov;69(5):496-7. Spanish

Alström syndrome: clinical and genetic features, and a diagnostic guide to foresee complications

Noviembre 1, 2008

Mendioroz J, Bermejo E, Marshall JD, Naggert JK, Collin GB, Martínez-Frías ML. Med Clin (Barc). 2008 Nov 29;131(19):741

A small and active ring X chromosome in a female with features of Kabuki syndrome

Noviembre 1, 2008

Rodríguez L, Diego-Alvarez D, Lorda-Sanchez I, Gallardo FL, Martínez-Fernández ML, Arroyo-Muñoz ME, Martínez-Frías ML. Am J Med Genet A. 2008 Nov 1;146A(21):2816-21

Publicaciones

Orden según fecha de publicación:

Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene

Aicardi-Goutières syndrome. Review of the genetic bases and their mechanisms

Alström syndrome: clinical and genetic features, and a diagnostic guide to foresee complications

A small and active ring X chromosome in a female with features of Kabuki syndrome