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Genetic and clinical heterogeneity in Korean patients with Rubinstein-Taybi syndrome.
Choi N, Kim HY, Lim BC, Chae JH, Kim SY, Ko JM. Choi N, et al. Mol Genet Genomic Med. 2021 Oct;9(10):e1791. doi: 10.1002/mgg3.1791. Epub 2021 Aug 24. Mol Genet Genomic Med. 2021. PMID: 34427995 Free PMC article.
BACKGROUND: Rubinstein-Taybi syndrome (RSTS) is a rare congenital malformation syndrome with clinical characteristics such as hypertrichosis, high arched eyebrows, large beaked nose, and broad thumbs and halluces. ...RESULTS: Causative variants were identifie …
BACKGROUND: Rubinstein-Taybi syndrome (RSTS) is a rare congenital malformation syndrome with clinical characteristics s …
Broad thumb-hallux (Rubinstein-Taybi) syndrome 1957-1988.
Rubinstein JH. Rubinstein JH. Am J Med Genet Suppl. 1990;6:3-16. doi: 10.1002/ajmg.1320370603. Am J Med Genet Suppl. 1990. PMID: 2118774 Review.
Information was collected and reviewed on 571 individuals from the world literature, from communications with colleagues and families of affected individuals, and from personal observation. The diagnosis was established in most cases by confirming the concurrence of the co …
Information was collected and reviewed on 571 individuals from the world literature, from communications with colleagues and families of aff …
Benign and malignant tumors in Rubinstein-Taybi syndrome.
Boot MV, van Belzen MJ, Overbeek LI, Hijmering N, Mendeville M, Waisfisz Q, Wesseling P, Hennekam RC, de Jong D. Boot MV, et al. Am J Med Genet A. 2018 Mar;176(3):597-608. doi: 10.1002/ajmg.a.38603. Epub 2018 Jan 23. Am J Med Genet A. 2018. PMID: 29359884 Free PMC article.
Rubinstein-Taybi syndrome (RSTS) is a multiple congenital anomalies syndrome associated with mutations in CREBBP (70%) and EP300 (5-10%). ...Five malignant tumors were observed in four persons with RSTS (medulloblastoma; diffuse large-cell B-cell lymph …
Rubinstein-Taybi syndrome (RSTS) is a multiple congenital anomalies syndrome associated with mutations in CREBBP (70%) …
Coregulator-related diseases.
Yanase T, Adachi M, Goto K, Takayanagi R, Nawata H. Yanase T, et al. Intern Med. 2004 May;43(5):368-73. doi: 10.2169/internalmedicine.43.368. Intern Med. 2004. PMID: 15206547 Free article. Review.
In this study, a new "coregulator disease" concept was proposed from observations of a case of androgen insensitivity syndrome (AIS) and cases involving Rubinstein-Taybi syndrome and X-linked dementia and hypothyroidism syndrome. In addition, coregulat …
In this study, a new "coregulator disease" concept was proposed from observations of a case of androgen insensitivity syndrome (AIS) …
Electroclinical phenotype in Rubinstein-Taybi syndrome.
Giacobbe A, Ajmone PF, Milani D, Avignone S, Triulzi F, Gervasini C, Menni F, Monti F, Biffi D, Canavesi K, Costantino MA. Giacobbe A, et al. Brain Dev. 2016 Jun;38(6):563-70. doi: 10.1016/j.braindev.2015.12.003. Epub 2016 Feb 8. Brain Dev. 2016. PMID: 26867510
OBJECTIVE: Rubinstein-Taybi syndrome (RSTS) is a rare congenital disorder (1:125.000) characterized by growth retardation, psychomotor developmental delay, microcephaly and dysmorphic features. ...All subjects received cognitive evaluation. RESULTS: EEG abnor …
OBJECTIVE: Rubinstein-Taybi syndrome (RSTS) is a rare congenital disorder (1:125.000) characterized by growth retardati …
Caregivers of individuals with Rubinstein-Taybi syndrome: Perspectives, experiences, and relationships with medical professionals.
Webster J, Wiley S, Schorry E, Bowers K, Collins Ruff K, Riddle I. Webster J, et al. J Genet Couns. 2022 Feb;31(1):153-163. doi: 10.1002/jgc4.1464. Epub 2021 Jul 3. J Genet Couns. 2022. PMID: 34218493
Rubinstein-Taybi syndrome (RTS) is a rare genetic disorder. Family-centered care (FCC) is a healthcare delivery approach that aims to create an equal partnership between caregivers and providers. ...The average scores of the other subscales of the MPOC …
Rubinstein-Taybi syndrome (RTS) is a rare genetic disorder. Family-centered care (FCC) is a healthcare delivery approac …
The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience.
Douzgou S, Dell'Oro J, Fonseca CR, Rei A, Mullins J, Jusiewicz I, Huisman S, Simpson BN, Vyshka K, Milani D, Bartsch O, Lacombe D, García-Miñaúr S, Hennekam RCM. Douzgou S, et al. Eur J Hum Genet. 2022 Jul;30(7):841-847. doi: 10.1038/s41431-022-01097-8. Epub 2022 Apr 6. Eur J Hum Genet. 2022. PMID: 35388185 Free PMC article.
The existing knowledge about morbidity in adults with Rubinstein-Taybi syndrome (RTS) is limited and detailed data on their natural history and response to management are needed for optimal care in later life. We formed an international, multidisciplinary wor …
The existing knowledge about morbidity in adults with Rubinstein-Taybi syndrome (RTS) is limited and detailed data on t …
Executive function, repetitive behaviour and restricted interests in neurodevelopmental disorders.
Perry V, Ellis K, Moss J, Beck SR, Singla G, Crawford H, Waite J, Richards C, Oliver C. Perry V, et al. Res Dev Disabil. 2022 Mar;122:104166. doi: 10.1016/j.ridd.2021.104166. Epub 2022 Jan 8. Res Dev Disabil. 2022. PMID: 35016127
RESULTS: All groups showed impairments across EF behaviours compared to two-to-three-year-old typically developing normative samples with no differences between groups. Different EF behaviours predicted RRBs in the syndrome groups with no associations found in the AUT grou …
RESULTS: All groups showed impairments across EF behaviours compared to two-to-three-year-old typically developing normative samples with no …
Rubinstein-Taybi syndrome 2 with cerebellar abnormality and neural tube defect.
Hadzsiev K, Gyorsok Z, Till A, Czakó M, Bartsch O. Hadzsiev K, et al. Clin Dysmorphol. 2019 Jul;28(3):137-141. doi: 10.1097/MCD.0000000000000262. Clin Dysmorphol. 2019. PMID: 30789376 Free PMC article.
Rubinstein-Taybi syndrome (RSTS) is a rare dominant disorder with intellectual disability, postnatal growth deficiency, and multiple congenital anomalies. ...Findings underline that small (hypoplastic) cerebellum and neural tube defects belong to the phenotyp …
Rubinstein-Taybi syndrome (RSTS) is a rare dominant disorder with intellectual disability, postnatal growth deficiency, …
Rubinstein-Taybi syndrome (CREBBP, EP300).
van Belzen M, Bartsch O, Lacombe D, Peters DJ, Hennekam RC. van Belzen M, et al. Eur J Hum Genet. 2011 Jan;19(1):preceeding 118-20. doi: 10.1038/ejhg.2010.124. Epub 2010 Jul 28. Eur J Hum Genet. 2011. PMID: 20664634 Free PMC article. No abstract available.
93 results