Rubinstein–Taybi syndrome: clinical and molecular overview
JH Roelfsema, DJM Peters - Expert reviews in molecular medicine, 2007 - cambridge.org
… One might consider screening the remaining patients for mutations in the EP300 gene;
however, very few mutations have been found. Because MLPA is so easy, one may consider …
however, very few mutations have been found. Because MLPA is so easy, one may consider …
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management
D Milani, FMP Manzoni, L Pezzani, P Ajmone… - Italian Journal of …, 2015 - Springer
… in CREBBP and EP300 genes. Pathogenic variants of the CREBBP gene were identified
in 50-70% of RSTS individuals [8,9,38,77], while mutations in the EP300 gene have been …
in 50-70% of RSTS individuals [8,9,38,77], while mutations in the EP300 gene have been …
Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease
JH Roelfsema, SJ White, Y Ariyürek, D Bartholdi… - The American Journal of …, 2005 - cell.com
… We screened the entire CREB-binding protein gene (CBP) … EP300 gene and showed that
mutations in EP300 also cause this disorder. These are the first mutations identified in EP300 …
mutations in EP300 also cause this disorder. These are the first mutations identified in EP300 …
Confirmation of EP300 gene mutations as a rare cause of Rubinstein–Taybi syndrome
N Zimmermann, AMBF Acosta, J Kohlhase… - European journal of …, 2007 - nature.com
… the CREBBP gene, but recently, EP300 gene mutations were … EP300 genes) and genomic
sequencing (for the EP300 gene… sequencing of the CREBBP gene in a previous investigation. …
sequencing (for the EP300 gene… sequencing of the CREBBP gene in a previous investigation. …
Rubinstein-Taybi syndrome: a model of epigenetic disorder
J Van Gils, F Magdinier, P Fergelot, D Lacombe - Genes, 2021 - mdpi.com
… Abnormalities in the EP300 gene are responsible for about 8–11… of the involvement of the
EP300 gene, initially compared CREBBP-… Subsequently, the description of patients with EP300 …
EP300 gene, initially compared CREBBP-… Subsequently, the description of patients with EP300 …
Clinical and molecular characterization of Rubinstein‐Taybi syndrome patients carrying distinct novel mutations of the EP300 gene
G Negri, D Milani, P Colapietro, F Forzano… - Clinical …, 2015 - Wiley Online Library
… RSTS-EP300-mutated cohort, this study indicates that EP300-… , the characterization of novel
EP300 mutations in RSTS patients … We examined the entire EP300 gene in a cohort of 33 …
EP300 mutations in RSTS patients … We examined the entire EP300 gene in a cohort of 33 …
Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum
M López, A García-Oguiza, J Armstrong… - BMC medical …, 2018 - Springer
… Schematic representation of p300 protein and EP300 gene, including their functional and
structural domains and their localization. Distribution of the variants found in EP300 gene in …
structural domains and their localization. Distribution of the variants found in EP300 gene in …
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300
D Bartholdi, JH Roelfsema, F Papadia… - Journal of medical …, 2007 - jmg.bmj.com
… , the genetic basis remains undetermined. Recently, we could demonstrate mutations in
the EP300 gene in a small number of patients with RSTS, thus proving genetic heterogeneity. …
the EP300 gene in a small number of patients with RSTS, thus proving genetic heterogeneity. …
Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein–Taybi syndrome
O Bartsch, J Labonté, B Albrecht… - American Journal of …, 2010 - Wiley Online Library
… Causative mutations have been described in the CREBBP and EP300 genes. Here we
present a 19-year-old woman and an unrelated 3-year-old boy, both with broad thumbs and …
present a 19-year-old woman and an unrelated 3-year-old boy, both with broad thumbs and …
Further case of Rubinstein–Taybi syndrome due to a deletion in EP300
P Foley, D Bunyan, J Stratton, M Dillon… - American journal of …, 2009 - Wiley Online Library
… in EP300. We report a male child with a deletion of exons 3–8 of the EP300 gene who has
… that has been described in other cases with EP300 mutations. The mother suffered from pre-…
… that has been described in other cases with EP300 mutations. The mother suffered from pre-…
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