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Page 1
Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.
Maia N, Ibarluzea N, Misra-Isrie M, Koboldt DC, Marques I, Soares G, Santos R, Marcelis CLM, Keski-Filppula R, Guitart M, Gabau Vila E, Lehman A, Hickey S, Mori M, Terhal P, Valenzuela I, Lasa-Aranzasti A, Cueto-González AM, Chhouk BH, Yeh RC, Neil JE, Abu-Libde B, Kleefstra T, Elting MW, Császár A, Kárteszi J, Bessenyei B, van Bokhoven H, Jorge P, van Hagen JM, de Brouwer APM. Maia N, et al. Among authors: gabau vila e. Am J Med Genet A. 2023 Jan;191(1):135-143. doi: 10.1002/ajmg.a.63004. Epub 2022 Oct 22. Am J Med Genet A. 2023. PMID: 36271811 Free PMC article.
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.
Scala M, Nishikawa M, Ito H, Tabata H, Khan T, Accogli A, Davids L, Ruiz A, Chiurazzi P, Cericola G, Schulte B, Monaghan KG, Begtrup A, Torella A, Pinelli M, Denommé-Pichon AS, Vitobello A, Racine C, Mancardi MM, Kiss C, Guerin A, Wu W, Gabau Vila E, Mak BC, Martinez-Agosto JA, Gorin MB, Duz B, Bayram Y, Carvalho CMB, Vengoechea JE, Chitayat D, Tan TY, Callewaert B, Kruse B, Bird LM, Faivre L, Zollino M, Biskup S; Undiagnosed Diseases Network; Telethon Undiagnosed Diseases Program; Striano P, Nigro V, Severino M, Capra V, Costain G, Nagata KI. Scala M, et al. Among authors: gabau vila e. Brain. 2022 Sep 14;145(9):3308-3327. doi: 10.1093/brain/awac106. Brain. 2022. PMID: 35851598 Free PMC article.
Shprintzen-Goldberg syndrome and aortic dilatation: apropos of 2 new cases.
Trujillo-Quintero JP, Gabau Vila E, Larrañaga Moreira JM, Ruiz Nel Lo A, Monserrat L, Barriales-Villa R. Trujillo-Quintero JP, et al. Among authors: gabau vila e. Rev Esp Cardiol (Engl Ed). 2021 Jun;74(6):551-553. doi: 10.1016/j.rec.2020.11.006. Epub 2021 Jan 18. Rev Esp Cardiol (Engl Ed). 2021. PMID: 33478915 English, Spanish. No abstract available.
Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.
Fergelot P, Van Belzen M, Van Gils J, Afenjar A, Armour CM, Arveiler B, Beets L, Burglen L, Busa T, Collet M, Deforges J, de Vries BB, Dominguez Garrido E, Dorison N, Dupont J, Francannet C, Garciá-Minaúr S, Gabau Vila E, Gebre-Medhin S, Gener Querol B, Geneviève D, Gérard M, Gervasini CG, Goldenberg A, Josifova D, Lachlan K, Maas S, Maranda B, Moilanen JS, Nordgren A, Parent P, Rankin J, Reardon W, Rio M, Roume J, Shaw A, Smigiel R, Sojo A, Solomon B, Stembalska A, Stumpel C, Suarez F, Terhal P, Thomas S, Touraine R, Verloes A, Vincent-Delorme C, Wincent J, Peters DJ, Bartsch O, Larizza L, Lacombe D, Hennekam RC. Fergelot P, et al. Among authors: gabau vila e. Am J Med Genet A. 2016 Dec;170(12):3069-3082. doi: 10.1002/ajmg.a.37940. Epub 2016 Sep 20. Am J Med Genet A. 2016. PMID: 27648933
[The genetic bases of neurodevelopmental disorders].
Artigas-Pallarés J, Guitart M, Gabau-Vila E. Artigas-Pallarés J, et al. Among authors: gabau vila e. Rev Neurol. 2013 Feb 22;56 Suppl 1:S23-34. Rev Neurol. 2013. PMID: 23446721 Free article. Review. Spanish.
[Menkes disease: its clinical, biochemical and molecular diagnosis].
Aldecoa V, Escofet-Soteras C, Artuch R, Ormazabal A, Gabau-Vila E, Martin-Martinez C. Aldecoa V, et al. Among authors: gabau vila e. Rev Neurol. 2008 Apr 1-15;46(7):446-7. Rev Neurol. 2008. PMID: 18389465 Free article. Spanish. No abstract available.
[Behavioural phenotypes in genetic mental retardation].
Artigas-Pallarés J, Gabau-Vila E, Guitart-Feliubadaló M. Artigas-Pallarés J, et al. Among authors: gabau vila e. Rev Neurol. 2006 Jan 7;42 Suppl 1:S15-9. Rev Neurol. 2006. PMID: 16506127 Free article. Review. Spanish.
[Medical and behavioural aspects of Angelman syndrome].
Artigas-Pallarés J, Brun-Gasca C, Gabau-Vila E, Guitart-Feliubadaló M, Camprubí-Sánchez C. Artigas-Pallarés J, et al. Among authors: gabau vila e. Rev Neurol. 2005 Dec 1-15;41(11):649-56. Rev Neurol. 2005. PMID: 16317633 Free article. Spanish.
15 results