Similar articles for PMID: 17220215

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1

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. Bartholdi D, et al. J Med Genet. 2007 May;44(5):327-33. doi: 10.1136/jmg.2006.046698. Epub 2007 Jan 12. J Med Genet. 2007. PMID: 17220215 Free PMC article.

2

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. López M, et al. BMC Med Genet. 2018 Mar 5;19(1):36. doi: 10.1186/s12881-018-0548-2. BMC Med Genet. 2018. PMID: 29506490 Free PMC article.

3

Confirmation of EP300 gene mutations as a rare cause of Rubinstein-Taybi syndrome.

Zimmermann N, Acosta AM, Kohlhase J, Bartsch O. Zimmermann N, et al. Eur J Hum Genet. 2007 Aug;15(8):837-42. doi: 10.1038/sj.ejhg.5201791. Epub 2007 Feb 14. Eur J Hum Genet. 2007. PMID: 17299436

4

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

5

From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks.

Negri G, Magini P, Milani D, Colapietro P, Rusconi D, Scarano E, Bonati MT, Priolo M, Crippa M, Mazzanti L, Wischmeijer A, Tamburrino F, Pippucci T, Finelli P, Larizza L, Gervasini C. Negri G, et al. Hum Mutat. 2016 Feb;37(2):175-83. doi: 10.1002/humu.22922. Epub 2015 Nov 4. Hum Mutat. 2016. PMID: 26486927

6

First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant.

López M, Seidel V, Santibáñez P, Cervera-Acedo C, Castro-de Castro P, Domínguez-Garrido E. López M, et al. BMC Med Genet. 2016 Dec 13;17(1):97. doi: 10.1186/s12881-016-0361-8. BMC Med Genet. 2016. PMID: 27964710 Free PMC article.

7

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. Negri G, et al. Clin Genet. 2015 Feb;87(2):148-54. doi: 10.1111/cge.12348. Epub 2014 Feb 17. Clin Genet. 2015. PMID: 24476420

8

Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report.

Al-Qattan MM, Jarman A, Rafique A, Al-Hassnan ZN, Al-Qattan HM. Al-Qattan MM, et al. BMC Med Genet. 2019 Jan 11;20(1):12. doi: 10.1186/s12881-019-0747-5. BMC Med Genet. 2019. PMID: 30635043 Free PMC article.

9

Genetic and clinical heterogeneity in Korean patients with Rubinstein-Taybi syndrome.

Choi N, Kim HY, Lim BC, Chae JH, Kim SY, Ko JM. Choi N, et al. Mol Genet Genomic Med. 2021 Oct;9(10):e1791. doi: 10.1002/mgg3.1791. Epub 2021 Aug 24. Mol Genet Genomic Med. 2021. PMID: 34427995 Free PMC article.

10

Rubinstein-Taybi Syndrome and Epigenetic Alterations.

Korzus E. Korzus E. Adv Exp Med Biol. 2017;978:39-62. doi: 10.1007/978-3-319-53889-1_3. Adv Exp Med Biol. 2017. PMID: 28523540 Free PMC article. Review.

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