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Quoted phrase not found in phrase index: "Rubinstein-Taybi syndrome due to CREBBP mutations"
Page 1
Rubinstein-Taybi syndrome in diverse populations.
Tekendo-Ngongang C, Owosela B, Fleischer N, Addissie YA, Malonga B, Badoe E, Gupta N, Moresco A, Huckstadt V, Ashaat EA, Hussen DF, Luk HM, Lo IFM, Hon-Yin Chung B, Fung JLF, Moretti-Ferreira D, Batista LC, Lotz-Esquivel S, Saborio-Rocafort M, Badilla-Porras R, Penon Portmann M, Jones KL, Abdul-Rahman OA, Uwineza A, Prijoles EJ, Ifeorah IK, Llamos Paneque A, Sirisena ND, Dowsett L, Lee S, Cappuccio G, Kitchin CS, Diaz-Kuan A, Thong MK, Obregon MG, Mutesa L, Dissanayake VHW, El Ruby MO, Brunetti-Pierri N, Ekure EN, Stevenson RE, Muenke M, Kruszka P. Tekendo-Ngongang C, et al. Am J Med Genet A. 2020 Dec;182(12):2939-2950. doi: 10.1002/ajmg.a.61888. Epub 2020 Sep 27. Am J Med Genet A. 2020. PMID: 32985117
Rubinstein-Taybi syndrome (RSTS) is an autosomal dominant disorder, caused by loss-of-function variants in CREBBP or EP300. ...Individuals with EP300 variants were more effectively discriminated (AUC: 0.95) compared with those with CREBBP varian …
Rubinstein-Taybi syndrome (RSTS) is an autosomal dominant disorder, caused by loss-of-function variants in CREBBP …
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%). ...We identified all known individuals diagnosed with RSTS in the Netherlands until 2015 (n = 87) an …
Rubinstein-Taybi syndrome (RSTS) is a multiple congenital anomalies syndrome associated with mutations in …
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.
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. ...Four of the CREBBP and all f …
BACKGROUND: Rubinstein-Taybi syndrome (RSTS) is a rare congenital malformation syndrome with clinical characteri …
Spectrum of CREBBP mutations in Indian patients with Rubinstein-Taybi syndrome.
Sharma N, Mali AM, Bapat SA. Sharma N, et al. J Biosci. 2010 Jun;35(2):187-202. doi: 10.1007/s12038-010-0023-5. J Biosci. 2010. PMID: 20689175
Rubinstein-Taybi syndrome (RSTS), a developmental disorder comprising abnormalities that include mental retardation, an unusual facial appearance, broad thumbs and big toes is frequently associated with molecular lesions in the CREB-binding protein gene, C …
Rubinstein-Taybi syndrome (RSTS), a developmental disorder comprising abnormalities that include mental retardation, an …
De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia.
Huang X, Rui X, Zhang S, Qi X, Rong W, Sheng X. Huang X, et al. BMC Med Genomics. 2023 Apr 21;16(1):84. doi: 10.1186/s12920-023-01516-9. BMC Med Genomics. 2023. PMID: 37085840 Free PMC article.
BACKGROUND: Rubinstein-Taybi syndrome (RSTS) is characterized by distinctive facial features, broad and often angulated thumbs and halluces, short stature, and moderate-to-severe intellectual disability, classified into two types RSTS1 (CREBBP-RSTS) an …
BACKGROUND: Rubinstein-Taybi syndrome (RSTS) is characterized by distinctive facial features, broad and often angulated …
Prevalence of Immunological Defects in a Cohort of 97 Rubinstein-Taybi Syndrome Patients.
Saettini F, Herriot R, Prada E, Nizon M, Zama D, Marzollo A, Romaniouk I, Lougaris V, Cortesi M, Morreale A, Kosaki R, Cardinale F, Ricci S, Domínguez-Garrido E, Montin D, Vincent M, Milani D, Biondi A, Gervasini C, Badolato R. Saettini F, et al. J Clin Immunol. 2020 Aug;40(6):851-860. doi: 10.1007/s10875-020-00808-4. Epub 2020 Jun 27. J Clin Immunol. 2020. PMID: 32594341
Although recurrent infections in Rubinstein-Taybi syndrome (RSTS) are common, and probably multifactorial, immunological abnormalities have not been extensively described with only isolated cases or small case series of immune deficiency and dysregulation hav …
Although recurrent infections in Rubinstein-Taybi syndrome (RSTS) are common, and probably multifactorial, immunologica …
EP300-related Rubinstein-Taybi syndrome: Highlighted rare phenotypic findings and a genotype-phenotype meta-analysis of 74 patients.
Cohen JL, Schrier Vergano SA, Mazzola S, Strong A, Keena B, McDougall C, Ritter A, Li D, Bedoukian EC, Burke LW, Hoffman A, Zurcher V, Krantz ID, Izumi K, Bhoj E, Zackai EH, Deardorff MA. Cohen JL, et al. Am J Med Genet A. 2020 Dec;182(12):2926-2938. doi: 10.1002/ajmg.a.61883. Epub 2020 Oct 11. Am J Med Genet A. 2020. PMID: 33043588
Pathogenic variants in the homologous and highly conserved genes-CREBBP and EP300-are causal for Rubinstein-Taybi syndrome (RSTS). ...Though generally a well-characterized syndrome, there is a clear phenotypic spectrum; rare associations have em …
Pathogenic variants in the homologous and highly conserved genes-CREBBP and EP300-are causal for Rubinstein-Taybi sy …
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.
Rubinstein-Taybi syndrome (RSTS) is a rare, clinically heterogeneous disorder characterized by cognitive impairment and several multiple congenital anomalies. ...Deletions involving CREBBP account for 23% of our detected CREBBP mutations, …
Rubinstein-Taybi syndrome (RSTS) is a rare, clinically heterogeneous disorder characterized by cognitive impairment and …
Rubinstein-Taybi syndrome predisposing to non-WNT, non-SHH, group 3 medulloblastoma.
Bourdeaut F, Miquel C, Richer W, Grill J, Zerah M, Grison C, Pierron G, Amiel J, Krucker C, Radvanyi F, Brugieres L, Delattre O. Bourdeaut F, et al. Pediatr Blood Cancer. 2014 Feb;61(2):383-6. doi: 10.1002/pbc.24765. Epub 2013 Sep 20. Pediatr Blood Cancer. 2014. PMID: 24115570
They occasionally occur in the context of a cancer predisposition syndrome. While germline APC mutations predispose to WNT MB, germline mutations in SUFU, PTCH1, and TP53 predispose to SHH tumors. We report on a child with a Rubinstein-Taybi …
They occasionally occur in the context of a cancer predisposition syndrome. While germline APC mutations predispose to WNT MB, …
25 results