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 …
characterized by a typical facial dysmorphism, distal limb abnormalities, intellectual …
Epigenetic etiology of intellectual disability
Intellectual disability (ID) is a prevailing neurodevelopmental condition associated with
impaired cognitive and adaptive behaviors. Many chromatin-modifying enzymes and other …
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
Primary mediastinal large B-cell lymphomas (PMBLs) are aggressive tumors that typically
present as large mediastinal masses in young women. PMBLs share clinical, transcriptional …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
function variants in CREBBP or EP300. Affected individuals present with distinctive …