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New insights into genetic variant spectrum and genotype-phenotype correlations of Rubinstein-Taybi syndrome in 39 CREBBP-positive patients.
Pérez-Grijalba V, García-Oguiza A, López M, Armstrong J, García-Miñaur S, Mesa-Latorre JM, O'Callaghan M, Pineda Marfa M, Ramos-Arroyo MA, Santos-Simarro F, Seidel V, Domínguez-Garrido E. Pérez-Grijalba V, et al. Mol Genet Genomic Med. 2019 Nov;7(11):e972. doi: 10.1002/mgg3.972. Epub 2019 Sep 30. Mol Genet Genomic Med. 2019. PMID: 31566936 Free PMC article.
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. 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
Prevalence of Immunological Defects in a Cohort of 97 Rubinstein-Taybi Syndrome Patients.
Saettini F, Herriot R, Prada E, Nizon M, Zama D, Marzollo A, Romaniouk I, Lougaris V, Cortesi M, Morreale A, Kosaki R, Cardinale F, Ricci S, Domínguez-Garrido E, Montin D, Vincent M, Milani D, Biondi A, Gervasini C, Badolato R. Saettini F, et al. J Clin Immunol. 2020 Aug;40(6):851-860. doi: 10.1007/s10875-020-00808-4. Epub 2020 Jun 27. J Clin Immunol. 2020. PMID: 32594341
Mitochondrial genetic effect on atrial fibrillation: A case-control study.
Roselló-Díez E, Hove-Madsen L, Pérez-Grijalba V, Muñoz-Guijosa C, Artigas V, Maria Padró J, Domínguez-Garrido E. Roselló-Díez E, et al. Mitochondrion. 2021 Jan;56:15-24. doi: 10.1016/j.mito.2020.11.007. Epub 2020 Nov 7. Mitochondrion. 2021. PMID: 33171269
43 results