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Page 1
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
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.
[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.
[Syndromic autism: I. General aspects].
Artigas-Pallarés J, Gabau-Vila E, Guitart-Feliubadaló M. Artigas-Pallarés J, et al. Among authors: gabau vila e. Rev Neurol. 2005 Jan 15;40 Suppl 1:S143-9. Rev Neurol. 2005. PMID: 15736078 Free article. 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.
[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.
[Mental deficiency associated with a fragility of the X chromosome].
Guitart Feliubadalo M, Artigas Pallarés J, Fuster Marqués C, Gabau Vila E, Lorente Hurtado I, Argemí Renom J. Guitart Feliubadalo M, et al. Among authors: gabau vila e. An Esp Pediatr. 1988 Nov;29(5):377-81. An Esp Pediatr. 1988. PMID: 3232895 Spanish.
[Schizophrenia and velocardiofacial syndrome].
de Mir Messa I, Gabau Vila E, Artigas Pallarés J, Calvo Escalona R. de Mir Messa I, et al. Among authors: gabau vila e. An Esp Pediatr. 2002 May;56(5):476-7. An Esp Pediatr. 2002. PMID: 12042127 Spanish. No abstract available.
15 results