Measurement of muscle strength with a handheld dynamometer in patients with chronic spinal muscular atrophy
Febrer A, Rodriguez N, Alias L, Tizzano E. J Rehabil Med. 2010 Mar;42(3):228-31
Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation
Kobayashi T, Aoki Y, Niihori T, Cavé H, Verloes A, Okamoto N, Kawame H, Fujiwara I, Takada F, Ohata T, Sakazume S, Ando T, Nakagawa N, Lapunzina P, Meneses AG, Gillessen-Kaesbach G, Wieczorek D, Kurosawa K, Mizuno S, Ohashi H, David A, Philip N, Guliyeva A, Narumi Y, Kure S, Tsuchiya S, Matsubara Y. Hum…
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome
Laugel V, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J, Lyonnet S, Murday V, Gubser-Mercati D, Funalot B, Brueton L, Sanchez Del Pozo J, Muñoz E, Gennery AR, Salih…
The USH2A c.2299delG mutation: dating its common origin in a Southern European population
Aller E, Larrieu L, Jaijo T, Baux D, Espinós C, González-Candelas F, Nájera C, Palau F, Claustres M, Roux AF, Millán JM. Eur J Hum Genet. 2010 Jul;18(7):788-93. Epub 2010 Feb 10.
Esophageal atresia in the Goldenhar syndrome
Ayuso Velasco R, Torres Aguirre A, Enríquez Zarabozo E, Galán Gómez E, Blesa Sánchez E. Cir Pediatr. 2010 Jan;23(1):65-7. Spanish
Digestive malformations and their associations to syndrome condition and genetic defects
Enríquez Zarabozo E, Blesa Sánchez E, Ayuso Velasco R, Galán Gómez E. Cir Pediatr. 2010 Jan;23(1):46-52. Spanish
BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1
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
Epigenetic inactivation of the Sotos overgrowth syndrome gene histone methyltransferase NSD1 in human neuroblastoma and glioma
Berdasco M, Ropero S, Setien F, Fraga MF, Lapunzina P, Losson R, Alaminos M, Cheung NK, Rahman N, Esteller M. Proc Natl Acad Sci U S A. 2009 Dec 22;106(51):21830-5. Epub 2009 Dec 14
Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling
Valencia M, Lapunzina P, Lim D, Zannolli R, Bartholdi D, Wollnik B, Al-Ajlouni O, Eid SS, Cox H, Buoni S, Hayek J, Martinez-Frias ML, Antonio PA, Temtamy S, Aglan M, Goodship JA, Ruiz-Perez VL. Hum Mutat. 2009 Dec;30(12):1667-75
Characterization of a de novo complex chromosomal rearrangement in a patient with cri-du-chat and trisomy 5p syndromes
Vera-Carbonell A, Bafalliu JA, Guillén-Navarro E, Escalona A, Ballesta-Martínez MJ, Fuster C, Fernández A, López-Expósito I. Am J Med Genet A. 2009 Nov;149A(11):2513-21.
