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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 2
1967 1
1968 3
1972 1
1973 1
1974 1
1976 3
1978 1
1979 1
1981 4
1982 1
1983 2
1984 1
1985 2
1986 2
1987 5
1988 5
1989 4
1990 6
1991 3
1992 9
1993 5
1994 3
1995 8
1996 2
1997 7
1998 2
1999 6
2000 2
2001 4
2002 8
2003 9
2004 3
2005 5
2006 7
2007 9
2008 6
2009 5
2010 6
2011 9
2012 12
2013 5
2014 3
2015 2
2016 1
2017 1
2018 2
2021 1
2024 0

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Article type

Publication date

PubMed (OMIM) for id: 2033

189 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
Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia.
Nibbeling EAR, Duarri A, Verschuuren-Bemelmans CC, Fokkens MR, Karjalainen JM, Smeets CJLM, de Boer-Bergsma JJ, van der Vries G, Dooijes D, Bampi GB, van Diemen C, Brunt E, Ippel E, Kremer B, Vlak M, Adir N, Wijmenga C, van de Warrenburg BPC, Franke L, Sinke RJ, Verbeek DS. Nibbeling EAR, et al. Brain. 2017 Nov 1;140(11):2860-2878. doi: 10.1093/brain/awx251. Brain. 2017. PMID: 29053796
Germline Mutations in FAN1 Cause Hereditary Colorectal Cancer by Impairing DNA Repair.
Seguí N, Mina LB, Lázaro C, Sanz-Pamplona R, Pons T, Navarro M, Bellido F, López-Doriga A, Valdés-Mas R, Pineda M, Guinó E, Vidal A, Soto JL, Caldés T, Durán M, Urioste M, Rueda D, Brunet J, Balbín M, Blay P, Iglesias S, Garré P, Lastra E, Sánchez-Heras AB, Valencia A, Moreno V, Pujana MÁ, Villanueva A, Blanco I, Capellá G, Surrallés J, Puente XS, Valle L. Seguí N, et al. Gastroenterology. 2015 Sep;149(3):563-6. doi: 10.1053/j.gastro.2015.05.056. Epub 2015 Jun 5. Gastroenterology. 2015. PMID: 26052075 Free article.
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.
189 results