Rubinstein-Taybi syndrome: a model of epigenetic disorder

J Van Gils, F Magdinier, P Fergelot, D Lacombe - Genes, 2021 - mdpi.com
The Rubinstein-Taybi syndrome (RSTS) is a rare congenital developmental disorder
characterized by a typical facial dysmorphism, distal limb abnormalities, intellectual …

Epigenetic etiology of intellectual disability

S Iwase, NG Bérubé, Z Zhou, NN Kasri… - Journal of …, 2017 - Soc Neuroscience
Intellectual disability (ID) is a prevailing neurodevelopmental condition associated with
impaired cognitive and adaptive behaviors. Many chromatin-modifying enzymes and other …

Genomic analyses of PMBL reveal new drivers and mechanisms of sensitivity to PD-1 blockade

B Chapuy, C Stewart, AJ Dunford, J Kim… - Blood, The Journal …, 2019 - ashpublications.org
Primary mediastinal large B-cell lymphomas (PMBLs) are aggressive tumors that typically
present as large mediastinal masses in young women. PMBLs share clinical, transcriptional …

Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations

P Fergelot, M Van Belzen, J Van Gils… - American Journal of …, 2016 - Wiley Online Library
Rubinstein–Taybi syndrome (RSTS) is a developmental disorder characterized by a typical
face and distal limbs abnormalities, intellectual disability, and a vast number of other …

Identification of intellectual disability genes in female patients with a skewed X‐inactivation pattern

N Fieremans, H Van Esch, M Holvoet… - Human …, 2016 - Wiley Online Library
Intellectual disability (ID) is a heterogeneous disorder with an unknown molecular etiology in
many cases. Previously, X‐linked ID (XLID) studies focused on males because of the …

Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement

D Lacombe, A Bloch-Zupan, C Bredrup… - Journal of medical …, 2024 - jmg.bmj.com
Rubinstein-Taybi syndrome (RTS) is an archetypical genetic syndrome that is characterised
by intellectual disability, well-defined facial features, distal limb anomalies and atypical …

Stress and the emerging roles of chromatin remodeling in signal integration and stable transmission of reversible phenotypes

ICG Weaver, AC Korgan, K Lee, RV Wheeler… - Frontiers in Behavioral …, 2017 - frontiersin.org
The influence of early life experience and degree of parental-infant attachment on emotional
development in children and adolescents has been comprehensively studied. Structural and …

Ultra-rare syndromes: the example of Rubinstein–Taybi syndrome

S Spena, C Gervasini, D Milani - Journal of pediatric genetics, 2015 - thieme-connect.com
Rubinstein–Taybi syndrome (RSTS) is a rare, congenital, plurimalformative, and
neurodevelopmental disorder. Clinical diagnosis can be complicated by the heterogeneous …

Benign and malignant tumors in Rubinstein–Taybi syndrome

MV Boot, MJ van Belzen, LI Overbeek… - American Journal of …, 2018 - Wiley Online Library
Rubinstein–Taybi syndrome (RSTS) is a multiple congenital anomalies syndrome
associated with mutations in CREBBP (70%) and EP300 (5–10%). Previous reports have …

Rubinstein–Taybi syndrome in diverse populations

C Tekendo‐Ngongang, B Owosela… - American Journal of …, 2020 - Wiley Online Library
Rubinstein–Taybi syndrome (RSTS) is an autosomal dominant disorder, caused by loss‐of‐
function variants in CREBBP or EP300. Affected individuals present with distinctive …