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 …

Updated report on tools to measure outcomes of clinical trials in fragile X syndrome

DB Budimirovic, E Berry-Kravis, CA Erickson… - Journal of …, 2017 - Springer
Abstract Objective Fragile X syndrome (FXS) has been the neurodevelopmental disorder
with the most active translation of preclinical breakthroughs into clinical trials. This process …

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 …

Arriving at the empirically based conceptualization of restricted and repetitive behaviors: A systematic review and meta-analytic examination of factor analyses

M Uljarević, EK Spackman, AJO Whitehouse… - Clinical Psychology …, 2023 - Elsevier
An empirically based understanding of the factor structure of the restricted and repetitive
behaviors (RRB) domain is a prerequisite for interpreting studies attempting to understand …

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 …

Improving the diagnosis of autism spectrum disorder in fragile X syndrome by adapting the social communication questionnaire and the social responsiveness scale-2

SA Kidd, E Berry-Kravis, TH Choo, C Chen… - Journal of Autism and …, 2020 - Springer
We carried out a psychometric assessment of the Social Communication Questionnaire
(SCQ) and the Social Responsiveness Scale (SRS-2) in fragile X syndrome (FXS), relative …

Diverse profiles of anxiety related disorders in fragile X, Cornelia de Lange and Rubinstein–Taybi syndromes

H Crawford, J Waite, C Oliver - Journal of Autism and Developmental …, 2017 - Springer
Anxiety disorders are heightened in specific genetic syndromes in comparison to intellectual
disability of heterogeneous aetiology. In this study, we described and contrasted anxiety …

The behavioral phenotype of Rubinstein–Taybi syndrome: A scoping review of the literature

N Awan, E Pearson, L Shelley… - American Journal of …, 2022 - Wiley Online Library
Rubinstein–Taybi syndrome (RTS) is a rare genetic syndrome associated with growth delay,
phenotypic facial characteristics, microcephaly, developmental delay, broad thumbs, and big …

From Whole Gene Deletion to Point Mutations of EP300‐Positive Rubinstein–Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical …

G Negri, P Magini, D Milani, P Colapietro… - Human …, 2016 - Wiley Online Library
Rubinstein–Taybi syndrome (RSTS) is a rare congenital neurodevelopmental disorder
characterized by growth deficiency, skeletal abnormalities, dysmorphic features, and …

Rubinstein–Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach

PF Ajmone, S Avignone, C Gervasini… - American Journal of …, 2018 - Wiley Online Library
Rubinstein–Taybi syndrome is a rare, autosomal dominant, plurimalformative disorder that is
clinically characterized by intellectual disability and a wide spectrum of congenital …