Similar articles for PMID: 30076641

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1

A novel EP300 mutation associated with Rubinstein-Taybi syndrome type 2 presenting as combined immunodeficiency.

Saettini F, Moratto D, Grioni A, Maitz S, Iascone M, Rizzari C, Pavan F, Spinelli M, Bettini LR, Biondi A, Badolato R. Saettini F, et al. Pediatr Allergy Immunol. 2018 Nov;29(7):776-781. doi: 10.1111/pai.12968. Epub 2018 Sep 28. Pediatr Allergy Immunol. 2018. PMID: 30076641 No abstract available.

2

Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum.

Hamilton MJ, Newbury-Ecob R, Holder-Espinasse M, Yau S, Lillis S, Hurst JA, Clement E, Reardon W, Joss S, Hobson E, Blyth M, Al-Shehhi M, Lynch SA, Suri M; DDD Study. Hamilton MJ, et al. Clin Dysmorphol. 2016 Oct;25(4):135-45. doi: 10.1097/MCD.0000000000000143. Clin Dysmorphol. 2016. PMID: 27465822

3

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.

4

Rubinstein-Taybi syndrome: clinical and molecular overview.

Roelfsema JH, Peters DJ. Roelfsema JH, et al. Expert Rev Mol Med. 2007 Aug 20;9(23):1-16. doi: 10.1017/S1462399407000415. Expert Rev Mol Med. 2007. PMID: 17942008 Review.

5

Rubinstein Taybi Syndrome in an Indian Child due to EP300 Gene Mutation.

Tamhankar PM, Merchant R, Shah A. Tamhankar PM, et al. Indian J Pediatr. 2016 May;83(5):473-4. doi: 10.1007/s12098-015-1891-3. Epub 2015 Sep 15. Indian J Pediatr. 2016. PMID: 26374735 No abstract available.

6

Rubinstein-Taybi syndrome (CREBBP, EP300).

van Belzen M, Bartsch O, Lacombe D, Peters DJ, Hennekam RC. van Belzen M, et al. Eur J Hum Genet. 2011 Jan;19(1):preceeding 118-20. doi: 10.1038/ejhg.2010.124. Epub 2010 Jul 28. Eur J Hum Genet. 2011. PMID: 20664634 Free PMC article. No abstract available.

7

Rubinstein-Taybi syndrome.

Kosaki R. Kosaki R. Nihon Rinsho. 2017 Mar;75(3):498-503. Nihon Rinsho. 2017. PMID: 30566799 English, Japanese.

8

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

9

Further case of Rubinstein-Taybi syndrome due to a deletion in EP300.

Foley P, Bunyan D, Stratton J, Dillon M, Lynch SA. Foley P, et al. Am J Med Genet A. 2009 May;149A(5):997-1000. doi: 10.1002/ajmg.a.32771. Am J Med Genet A. 2009. PMID: 19353645

10

Hyperinsulinism in an individual with an EP300 variant of Rubinstein-Taybi syndrome.

Wild KT, Nomakuchi TT, Sheppard SE, Leavens KF, De León DD, Zackai EH. Wild KT, et al. Am J Med Genet A. 2021 Apr;185(4):1251-1255. doi: 10.1002/ajmg.a.62085. Epub 2021 Jan 14. Am J Med Genet A. 2021. PMID: 33442921 Free PMC article.

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