Archivo por año: 2008

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

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

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

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

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

Review of 22 patients with 22q11.2 deletion syndrome: phenotype spectrum

Ballesta Martínez MJ, Guillén Navarro E, López Expósito I, Bafalliu Vidal JA, Domingo Jiménez R, Guía Torrent JM, Robles Sánchez F, Sánchez Solís de Querol M. An Pediatr (Barc). 2008 Oct;69(4):304-10. Spanish

Posterior fossa arachnoid cyst, tonsillar herniation, and syringomyelia in trichorhinophalangeal syndrome Type I

Martínez-Lage JF, Ruiz-Espejo A, Guillén-Navarro E, Almagro MJ. J Neurosurg. 2008 Oct;109(4):746-50

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

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

Laurin-Sandrow syndrome: review and redefinition

Mariño-Enríquez A, Lapunzina P, Omeñaca F, Morales C, Rodríguez JI. Am J Med Genet A. 2008 Oct 1;146A(19):2557-65. Review

Analysis of the molecular parameters that could predict the risk of manifesting premature ovarian failure in female premutation carriers of fragile X syndrome

Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis

Sparrow DB, Guillén-Navarro E, Fatkin D, Dunwoodie SL. Hum Mol Genet. 2008 Dec 1;17(23):3761-6. Epub 2008 Sep 5