|
López-Expósito I, Bafalliu JA, Santos M, Fuster C, Puche-Mira A, Guillén-Navarro E. Intrachromosomal partial triplication of chromosome 13 secondary to a paternal duplication with mild phenotypic effect. Am J Med Genet A. 2008 May 1;146A(9):1190-4. doi: 10.1002/ajmg.a.32187. PubMed PMID: 18386805.
AÑO: 2008; IF: 2.555
|
18386805
|
Sparrow DB, Guillén-Navarro E, Fatkin D, Dunwoodie SL. Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis. Hum Mol Genet. 2008 Dec 1;17(23):3761-6. doi: 10.1093/hmg/ddn272. Epub 2008 Sep 5. PubMed PMID: 18775957.
AÑO: 2008; IF: 7.249
|
|
Martínez-Lage JF, Ruiz-Espejo A, Guillén-Navarro E, Almagro MJ. Posterior fossa arachnoid cyst, tonsillar herniation, and syringomyelia in trichorhinophalangeal syndrome Type I. J Neurosurg. 2008 Oct;109(4):746-50. doi: 10.3171/JNS/2008/109/10/0746. PubMed PMID: 18826365.
AÑO: 2008; IF: 2.124
|
|
Ramos-Trujillo E, González-Acosta H, Flores C, García-Nieto V, Guillén E, Gracia S, Vicente C, Espinosa L, Maseda MA, Santos F, Camacho JA, Claverie-Martín F. A missense mutation in the chloride/proton ClC-5 antiporter gene results in increased expression of an alternative mRNA form that lacks exons 10 and 11. Identification of seven new CLCN5 mutations in patients with Dent's disease. J Hum Genet. 2007;52(3):255-61. Epub 2007 Jan 30. PubMed PMID: 17262170.
AÑO: 2007; IF: 2.275
|
|
Villaverde C, Trujillo-Tiebas MJ, Garcia-Hoyos M, Perez N, Narvaiza RC, Guillén E, Ayuso C. Novel human pathological mutations. Gene symbol: CHM. Disease: choroideraemia. Hum Genet. 2007 Jun;121(5):648. PubMed PMID: 17879443.
AÑO: 2007; IF: 3.974
|