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

Year Number of Results
1930 1
1932 1
1934 1
1938 2
1941 1
1945 10
1946 6
1947 5
1948 9
1949 7
1950 6
1951 8
1952 7
1953 10
1954 12
1955 5
1956 15
1957 13
1958 13
1959 16
1960 12
1961 15
1962 26
1963 27
1964 39
1965 21
1966 40
1967 35
1968 61
1969 48
1970 44
1971 50
1972 48
1973 46
1974 48
1975 55
1976 66
1977 78
1978 59
1979 75
1980 63
1981 75
1982 81
1983 72
1984 84
1985 120
1986 102
1987 123
1988 99
1989 114
1990 120
1991 101
1992 100
1993 112
1994 108
1995 110
1996 99
1997 113
1998 90
1999 95
2000 134
2001 113
2002 128
2003 127
2004 122
2005 130
2006 133
2007 154
2008 169
2009 184
2010 184
2011 186
2012 180
2013 187
2014 209
2015 243
2016 222
2017 216
2018 198
2019 228
2020 275
2021 292
2022 255
2023 267
2024 113

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7,220 results

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Page 1
Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder.
Van Gils J, Magdinier F, Fergelot P, Lacombe D. Van Gils J, et al. Genes (Basel). 2021 Jun 24;12(7):968. doi: 10.3390/genes12070968. Genes (Basel). 2021. PMID: 34202860 Free PMC article. Review.
The Rubinstein-Taybi syndrome (RSTS) is a rare congenital developmental disorder characterized by a typical facial dysmorphism, distal limb abnormalities, intellectual disability, and many additional phenotypical features. ...
The Rubinstein-Taybi syndrome (RSTS) is a rare congenital developmental disorder characterized by a typical facial dysmorphism, dista …
The behavioral phenotype of Rubinstein-Taybi syndrome: A scoping review of the literature.
Awan N, Pearson E, Shelley L, Greenhill C, Tarver J, Waite J. Awan N, et al. Am J Med Genet A. 2022 Sep;188(9):2536-2554. doi: 10.1002/ajmg.a.62867. Epub 2022 Jun 21. Am J Med Genet A. 2022. PMID: 35730128 Free PMC article. Review.
Rubinstein-Taybi syndrome (RTS) is a rare genetic syndrome associated with growth delay, phenotypic facial characteristics, microcephaly, developmental delay, broad thumbs, and big toes. ...
Rubinstein-Taybi syndrome (RTS) is a rare genetic syndrome associated with growth delay, phenotypic facial characteristics, microceph …
Keloids in Rubinstein-Taybi syndrome: a clinical study.
van de Kar AL, Houge G, Shaw AC, de Jong D, van Belzen MJ, Peters DJ, Hennekam RC. van de Kar AL, et al. Br J Dermatol. 2014 Sep;171(3):615-21. doi: 10.1111/bjd.13124. Epub 2014 Aug 21. Br J Dermatol. 2014. PMID: 25132000 Review.
BACKGROUND: Rubinstein-Taybi syndrome (RSTS) is a multiple congenital anomalies-intellectual disability syndrome. ...
BACKGROUND: Rubinstein-Taybi syndrome (RSTS) is a multiple congenital anomalies-intellectual disability syndrome. ...
Dermatological findings in Rubinstein-Taybi Syndrome.
Cammarata-Scalisi F, Diociaiuti A, Cárdenas Tadich A, Sandoval X, Oranges T, Filippeschi C, Araya Castillo M, Willoughby CE, Cerri A, Gervasini C, Callea M. Cammarata-Scalisi F, et al. Ital J Dermatol Venerol. 2023 Aug;158(4):316-320. doi: 10.23736/S2784-8671.23.07547-3. Epub 2023 Jun 7. Ital J Dermatol Venerol. 2023. PMID: 37282850 Free article. Review.
Rubinstein-Taybi Syndrome is a rare congenital multisystem syndrome inherited in an autosomal dominant pattern caused by mutations in CREBBP and EP300 genes in approximately 60% and 10% respectively. ...In this review, we discuss the genetics, diagnosis, and clinical featu …
Rubinstein-Taybi Syndrome is a rare congenital multisystem syndrome inherited in an autosomal dominant pattern caused by mutations in …
Rubinstein-Taybi Syndrome.
Hutchinson DT, Sullivan R. Hutchinson DT, et al. J Hand Surg Am. 2015 Aug;40(8):1711-2. doi: 10.1016/j.jhsa.2014.08.043. Epub 2015 Jul 1. J Hand Surg Am. 2015. PMID: 26143027 Review. No abstract available.
A novel CREBBP mutation and its phenotype in a case of Rubinstein-Taybi syndrome.
Wang Q, Wang C, Wei WB, Rong WN, Shi XY. Wang Q, et al. BMC Med Genomics. 2022 Aug 19;15(1):182. doi: 10.1186/s12920-022-01335-4. BMC Med Genomics. 2022. PMID: 35986282 Free PMC article.
BACKGROUND: This study was to report a novel CREBBP mutation and phenotype in a child with Rubinstein-Taybi syndrome. METHODS: Case report of a 9-year-old boy. ...CONCLUSIONS: This findings in our patient add to the spectrum of genetic variants described in Rubinstein …
BACKGROUND: This study was to report a novel CREBBP mutation and phenotype in a child with Rubinstein-Taybi syndrome. METHODS: Case r …
Rubinstein-Taybi syndrome.
Hennekam RC. Hennekam RC. Eur J Hum Genet. 2006 Sep;14(9):981-5. doi: 10.1038/sj.ejhg.5201594. Epub 2006 Jul 26. Eur J Hum Genet. 2006. PMID: 16868563 Review.
In this review a short overview of pertinent clinical and molecular data of the Rubinstein-Taybi syndrome are provided. A diagnostic decision algorithm, and major issues that should be considered in the management of patients are discussed. ...
In this review a short overview of pertinent clinical and molecular data of the Rubinstein-Taybi syndrome are provided. A diagnostic …
Rubinstein-Taybi syndrome.
Ravella R, George P. Ravella R, et al. Indian J Med Res. 2020 Nov;152(Suppl 1):S236-S237. doi: 10.4103/ijmr.IJMR_2399_19. Indian J Med Res. 2020. PMID: 35345227 Free PMC article. No abstract available.
Waiting for a diagnosis in Rubinstein-Taybi: The journey from "ignorance is bliss" to the value of "a label".
Withers CM, Fleming J, Wallingford CK, Gabbett MT, Peterson M, Humphreys L, McInerney-Leo A. Withers CM, et al. Am J Med Genet A. 2021 Jan;185(1):105-111. doi: 10.1002/ajmg.a.61920. Epub 2020 Oct 16. Am J Med Genet A. 2021. PMID: 33063426
This study describes parental experiences of receiving their child's diagnosis of Rubinstein-Taybi syndrome (RTS), a rare genetic condition characterized by growth and developmental delay together with dysmorphic features. ...
This study describes parental experiences of receiving their child's diagnosis of Rubinstein-Taybi syndrome (RTS), a rare genetic con …
7,220 results