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.
Hydrocephalus and Chiari type 1 malformation in macrocephaly-cutis marmorata telangiectatica congenita: a case-based update
Martínez-Lage JF, Guillén-Navarro E, Almagro MJ, Felipe-Murcia M, López López-Guerrero A, Galarza M. Childs Nerv Syst. 2010 Jan;26(1):13-8. Epub 2009 Sep 10
Spinal muscular atrophy during human development: where are the early pathogenic findings?
Tizzano E. Adv Exp Med Biol. 2009;652:225-35
Prader Willi syndrome patients: study of 77 patients
Poyatos D, Camprubí C, Gabau E, Nosas R, Villatoro S, Coll MD, Guitart M. Med Clin (Barc). 2009 Nov 7;133(17):649-56. Epub 2009 Sep 13.
Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway
Lupo V, Galindo MI, Martínez-Rubio D, Sevilla T, Vílchez JJ, Palau F, Espinós C. Hum Mol Genet. 2009 Dec 1;18(23):4603-14. Epub 2009 Sep 10
