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Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1963 1
1964 1
1967 1
1968 3
1972 1
1973 1
1974 1
1976 1
1979 1
1981 1
1982 1
1983 2
1985 1
1986 1
1987 2
1989 3
1990 5
1991 2
1992 6
1993 7
1994 5
1995 8
1996 3
1997 7
1998 4
1999 3
2000 5
2001 5
2002 8
2003 6
2004 2
2005 2
2006 3
2007 3
2008 3
2009 3
2010 4
2011 4
2014 2
2015 1
2016 1
2018 1
2019 1
2024 0

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PubMed (OMIM) for id: 1387

124 results

Results by year

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Page 1
Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome.
Menke LA; DDD study; Gardeitchik T, Hammond P, Heimdal KR, Houge G, Hufnagel SB, Ji J, Johansson S, Kant SG, Kinning E, Leon EL, Newbury-Ecob R, Paolacci S, Pfundt R, Ragge NK, Rinne T, Ruivenkamp C, Saitta SC, Sun Y, Tartaglia M, Terhal PA, van Essen AJ, Vigeland MD, Xiao B, Hennekam RC. Menke LA, et al. Am J Med Genet A. 2018 Apr;176(4):862-876. doi: 10.1002/ajmg.a.38626. Epub 2018 Feb 20. Am J Med Genet A. 2018. PMID: 29460469
CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype.
Menke LA, van Belzen MJ, Alders M, Cristofoli F; DDD Study; Ehmke N, Fergelot P, Foster A, Gerkes EH, Hoffer MJ, Horn D, Kant SG, Lacombe D, Leon E, Maas SM, Melis D, Muto V, Park SM, Peeters H, Peters DJ, Pfundt R, van Ravenswaaij-Arts CM, Tartaglia M, Hennekam RC. Menke LA, et al. Am J Med Genet A. 2016 Oct;170(10):2681-93. doi: 10.1002/ajmg.a.37800. Epub 2016 Jun 17. Am J Med Genet A. 2016. PMID: 27311832
Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire.
Rusconi D, Negri G, Colapietro P, Picinelli C, Milani D, Spena S, Magnani C, Silengo MC, Sorasio L, Curtisova V, Cavaliere ML, Prontera P, Stangoni G, Ferrero GB, Biamino E, Fischetto R, Piccione M, Gasparini P, Salviati L, Selicorni A, Finelli P, Larizza L, Gervasini C. Rusconi D, et al. Hum Genet. 2015 Jun;134(6):613-26. doi: 10.1007/s00439-015-1542-9. Epub 2015 Mar 25. Hum Genet. 2015. PMID: 25805166 Free article. Clinical Trial.
Adults with Rubinstein-Taybi syndrome.
Stevens CA, Pouncey J, Knowles D. Stevens CA, et al. Am J Med Genet A. 2011 Jul;155A(7):1680-4. doi: 10.1002/ajmg.a.34058. Epub 2011 Jun 10. Am J Med Genet A. 2011. PMID: 21671385
CREBBP mutations in relapsed acute lymphoblastic leukaemia.
Mullighan CG, Zhang J, Kasper LH, Lerach S, Payne-Turner D, Phillips LA, Heatley SL, Holmfeldt L, Collins-Underwood JR, Ma J, Buetow KH, Pui CH, Baker SD, Brindle PK, Downing JR. Mullighan CG, et al. Nature. 2011 Mar 10;471(7337):235-9. doi: 10.1038/nature09727. Nature. 2011. PMID: 21390130 Free PMC article.
Inactivating mutations of acetyltransferase genes in B-cell lymphoma.
Pasqualucci L, Dominguez-Sola D, Chiarenza A, Fabbri G, Grunn A, Trifonov V, Kasper LH, Lerach S, Tang H, Ma J, Rossi D, Chadburn A, Murty VV, Mullighan CG, Gaidano G, Rabadan R, Brindle PK, Dalla-Favera R. Pasqualucci L, et al. Nature. 2011 Mar 10;471(7337):189-95. doi: 10.1038/nature09730. Nature. 2011. PMID: 21390126 Free PMC article.
124 results