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8. Insights into the Role of the Microbiota and of Short-Chain Fatty Acids in Rubinstein-Taybi Syndrome. Di Fede E; Ottaviano E; Grazioli P; Ceccarani C; Galeone A; Parodi C; Colombo EA; Bassanini G; Fazio G; Severgnini M; Milani D; Verduci E; Vaccari T; Massa V; Borghi E; Gervasini C Int J Mol Sci; 2021 Mar; 22(7):. PubMed ID: 33807238 [TBL] [Abstract][Full Text] [Related]
9. Clinical and mutational spectrum in Korean patients with Rubinstein-Taybi syndrome: the spectrum of brain MRI abnormalities. Lee JS; Byun CK; Kim H; Lim BC; Hwang H; Choi JE; Hwang YS; Seong MW; Park SS; Kim KJ; Chae JH Brain Dev; 2015 Apr; 37(4):402-8. PubMed ID: 25108505 [TBL] [Abstract][Full Text] [Related]
10. Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene. Negri G; Milani D; Colapietro P; Forzano F; Della Monica M; Rusconi D; Consonni L; Caffi LG; Finelli P; Scarano G; Magnani C; Selicorni A; Spena S; Larizza L; Gervasini C Clin Genet; 2015 Feb; 87(2):148-54. PubMed ID: 24476420 [TBL] [Abstract][Full Text] [Related]
11. Ablation of CBP in forebrain principal neurons causes modest memory and transcriptional defects and a dramatic reduction of histone acetylation but does not affect cell viability. Valor LM; Pulopulos MM; Jimenez-Minchan M; Olivares R; Lutz B; Barco A J Neurosci; 2011 Feb; 31(5):1652-63. PubMed ID: 21289174 [TBL] [Abstract][Full Text] [Related]
12. Histone Deacetylase Inhibitors Ameliorate Morphological Defects and Hypoexcitability of iPSC-Neurons from Rubinstein-Taybi Patients. Alari V; Scalmani P; Ajmone PF; Perego S; Avignone S; Catusi I; Lonati PA; Borghi MO; Finelli P; Terragni B; Mantegazza M; Russo S; Larizza L Int J Mol Sci; 2021 May; 22(11):. PubMed ID: 34071322 [TBL] [Abstract][Full Text] [Related]
13. Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum. López M; García-Oguiza A; Armstrong J; García-Cobaleda I; García-Miñaur S; Santos-Simarro F; Seidel V; Domínguez-Garrido E BMC Med Genet; 2018 Mar; 19(1):36. PubMed ID: 29506490 [TBL] [Abstract][Full Text] [Related]
14. 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 Am J Med Genet A; 2016 Dec; 170(12):3069-3082. PubMed ID: 27648933 [TBL] [Abstract][Full Text] [Related]
16. DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS. Bartsch O; Schmidt S; Richter M; Morlot S; Seemanová E; Wiebe G; Rasi S Hum Genet; 2005 Sep; 117(5):485-93. PubMed ID: 16021471 [TBL] [Abstract][Full Text] [Related]
17. 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 Mol Genet Genomic Med; 2019 Nov; 7(11):e972. PubMed ID: 31566936 [TBL] [Abstract][Full Text] [Related]
18. Epigenetic mechanisms of Rubinstein-Taybi syndrome. Park E; Kim Y; Ryu H; Kowall NW; Lee J; Ryu H Neuromolecular Med; 2014 Mar; 16(1):16-24. PubMed ID: 24381114 [TBL] [Abstract][Full Text] [Related]
19. Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300. Bartholdi D; Roelfsema JH; Papadia F; Breuning MH; Niedrist D; Hennekam RC; Schinzel A; Peters DJ J Med Genet; 2007 May; 44(5):327-33. PubMed ID: 17220215 [TBL] [Abstract][Full Text] [Related]