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

Year Number of Results
1972 1
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1990 3
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1993 1
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1995 3
1996 4
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2000 4
2001 3
2002 7
2003 5
2004 4
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2008 5
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107 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. ...These two genes encode paralogs a …
The Rubinstein-Taybi syndrome (RSTS) is a rare congenital developmental disorder characterized by a typical facial dysm …
KMT2A: Umbrella Gene for Multiple Diseases.
Castiglioni S, Di Fede E, Bernardelli C, Lettieri A, Parodi C, Grazioli P, Colombo EA, Ancona S, Milani D, Ottaviano E, Borghi E, Massa V, Ghelma F, Vignoli A, Lesma E, Gervasini C. Castiglioni S, et al. Genes (Basel). 2022 Mar 15;13(3):514. doi: 10.3390/genes13030514. Genes (Basel). 2022. PMID: 35328068 Free PMC article. Review.
KMT2A germinal mutations are associated to Wiedemann-Steiner syndrome and also in patients with initial clinical diagnosis of several other chromatinopathies (i.e., Coffin-Siris syndromes, Kabuki syndrome, Cornelia De Lange syndrome, Rubinstein-Tayb
KMT2A germinal mutations are associated to Wiedemann-Steiner syndrome and also in patients with initial clinical diagnosis of several …
Main genetic entities associated with supernumerary teeth.
Cammarata-Scalisi F, Avendaño A, Callea M. Cammarata-Scalisi F, et al. Arch Argent Pediatr. 2018 Dec 1;116(6):437-444. doi: 10.5546/aap.2018.eng.437. Arch Argent Pediatr. 2018. PMID: 30457727 Free article. Review. English, Spanish.
However, the presence of multiple impacted or erupted supernumerary teeth is rare and associated with some genetic syndromes: cleidocranial displasia, familial adenomatous polyposis, trichorhinophalangeal syndrome type I, Rubinstein-Taybi syndrome, Nan …
However, the presence of multiple impacted or erupted supernumerary teeth is rare and associated with some genetic syndromes: cleidocranial …
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.
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, diagnosi
Rubinstein-Taybi Syndrome is a rare congenital multisystem syndrome inherited in an autosomal dominant pattern c
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. …
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.
Rubinstein-Taybi syndrome (RSTS) is a rare genetic disorder in humans characterized by growth and psychomotor delay, abnormal gross anatomy, and mild to severe mental retardation (Rubinstein and Taybi, Am J Dis Child 105:588-608, 1963, Hennekam
Rubinstein-Taybi syndrome (RSTS) is a rare genetic disorder in humans characterized by growth and psychomotor delay, ab
Tumors in Rubinstein-Taybi syndrome.
Miller RW, Rubinstein JH. Miller RW, et al. Am J Med Genet. 1995 Mar 13;56(1):112-5. doi: 10.1002/ajmg.1320560125. Am J Med Genet. 1995. PMID: 7747773 Review.
The 14 tumors reported in Rubinstein-Taybi syndrome since 1989, when added to the 22 previously reported, are beginning to show a pattern of neural and developmental tumors, especially of the head, which is malformed in the syndrome. ...
The 14 tumors reported in Rubinstein-Taybi syndrome since 1989, when added to the 22 previously reported, are beginning …
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 chara
Rubinstein-Taybi syndrome.
Berry AC. Berry AC. J Med Genet. 1987 Sep;24(9):562-6. doi: 10.1136/jmg.24.9.562. J Med Genet. 1987. PMID: 3312608 Free PMC article. Review. No abstract available.
107 results