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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. It occurs at between 1/100,000 and 1 …
The Rubinstein-Taybi syndrome (RSTS) is a rare congenital developmental disorder characterized by a typical facial dysm …
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
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 gene
Rubinstein-Taybi Syndrome is a rare congenital multisystem syndrome inherited in an autosomal dominant pattern c
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management.
Milani D, Manzoni FM, Pezzani L, Ajmone P, Gervasini C, Menni F, Esposito S. Milani D, et al. Ital J Pediatr. 2015 Jan 20;41:4. doi: 10.1186/s13052-015-0110-1. Ital J Pediatr. 2015. PMID: 25599811 Free PMC article. Review.
BACKGROUND: Rubinstein-Taybi syndrome (RSTS) is an extremely rare autosomal dominant genetic disease, with an estimated prevalence of one case per 125,000 live births. ...In addition, no standard diagnostic criteria and follow-up care guidelines are available …
BACKGROUND: Rubinstein-Taybi syndrome (RSTS) is an extremely rare autosomal dominant genetic disease, with an estimated …
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.
Rubinstein-Taybi syndrome is characterised by mental retardation, growth retardation and a particular dysmorphology. ...Here, we describe the clinical presentation of Rubinstein-Taybi syndrome, review the mutation spectrum and disc
Rubinstein-Taybi syndrome is characterised by mental retardation, growth retardation and a particular dysmorphology. ..
Genetic disorders associated with postnatal microcephaly.
Seltzer LE, Paciorkowski AR. Seltzer LE, et al. Am J Med Genet C Semin Med Genet. 2014 Jun;166C(2):140-55. doi: 10.1002/ajmg.c.31400. Epub 2014 May 16. Am J Med Genet C Semin Med Genet. 2014. PMID: 24839169 Review.
Several genetic disorders are characterized by normal head size at birth, followed by deceleration in head growth resulting in postnatal microcephaly. Among these are classic disorders such as Angelman syndrome and MECP2-related disorder (formerly Rett syndrome), as …
Several genetic disorders are characterized by normal head size at birth, followed by deceleration in head growth resulting in postnatal mic …
Psychiatric profile in rubinstein-taybi syndrome. A review and case report.
Verhoeven WM, Tuinier S, Kuijpers HJ, Egger JI, Brunner HG. Verhoeven WM, et al. Psychopathology. 2010;43(1):63-8. doi: 10.1159/000260045. Epub 2009 Nov 20. Psychopathology. 2010. PMID: 19940543 Review.
BACKGROUND: The diagnosis of Rubinstein-Taybi syndrome (RTS) is primarily clinical and based on the characteristic phenotype that is often combined with a variety of somatic anomalies and psychiatric disorders. ...Information about brain pathology is virtuall …
BACKGROUND: The diagnosis of Rubinstein-Taybi syndrome (RTS) is primarily clinical and based on the characteristic phen …
Transcription factors in disease.
Engelkamp D, van Heyningen V. Engelkamp D, et al. Curr Opin Genet Dev. 1996 Jun;6(3):334-42. doi: 10.1016/s0959-437x(96)80011-6. Curr Opin Genet Dev. 1996. PMID: 8791518 Review.
Mutations affecting several predominantly tissue-specific transcriptional regulators have recently been associated with disease phenotypes. Although the mutational spectrum is variable, many of the reported cases involve clear loss-of-function mutations-such
Mutations affecting several predominantly tissue-specific transcriptional regulators have recently been associated with disease pheno
Diagnosis of Menke-Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs.
Cogan G, Bourgon N, Borghese R, Julien E, Jaquette A, Stos B, Achaiaa A, Chuon S, Nitschke P, Fourrage C, Stirnemann J, Boutaud L, Attie-Bitach T. Cogan G, et al. Mol Genet Genomic Med. 2023 Sep;11(9):e2219. doi: 10.1002/mgg3.2219. Epub 2023 Jun 23. Mol Genet Genomic Med. 2023. PMID: 37353886 Free PMC article. Review.
INTRODUCTION: CREBBP truncating mutations and deletions are responsible for the well-known Rubinstein-Taybi syndrome. Recently, a new, distinct CREBBP-linked syndrome has been described: missense mutations located at the 3' …
INTRODUCTION: CREBBP truncating mutations and deletions are responsible for the well-known Rubinstein-Taybi s
Interstitial 16p13.3 microduplication: case report and critical review of genotype-phenotype correlation.
Mattina T, Palumbo O, Stallone R, Pulvirenti RM, Di Dio L, Pavone P, Carella M, Pavone L. Mattina T, et al. Eur J Med Genet. 2012 Dec;55(12):747-52. doi: 10.1016/j.ejmg.2012.09.006. Epub 2012 Sep 29. Eur J Med Genet. 2012. PMID: 23032921 Review.
The causal 16p13.3 duplication is one of the smallest reported so far, and includes the CREB binding protein gene (CREBBP, MIM 600140), whose haploinsufficiency is responsible for the Rubinstein-Taybi syndrome, and the adenylate cyclase 9 gene (ADCY9, …
The causal 16p13.3 duplication is one of the smallest reported so far, and includes the CREB binding protein gene (CREBBP, MIM 600140 …
18 results