From Whole Gene Deletion to Point Mutations ofEP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks

Expanding the phenotypic spectrum inEP300-related Rubinstein-Taybi syndrome

(2015) Benjamin D. Solomon et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire

(2015) Daniela Rusconi et al.   HUMAN GENETICS

Growth charts for individuals with Rubinstein-Taybi syndrome

(2014) Lex Beets et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Insights into genotype-phenotype correlations fromCREBBPpoint mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients

(2014) S. Spena et al.   CLINICAL GENETICS

Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of theEP300gene

(2014) G. Negri et al.   CLINICAL GENETICS

The Novel Small Leucine-rich Protein Chondroadherin-like (CHADL) Is Expressed in Cartilage and Modulates Chondrocyte Differentiation

(2014) Viveka Tillgren et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Promoter-Bound p300 Complexes Facilitate Post-Mitotic Transmission of Transcriptional Memory

(2014) Madeline M. Wong et al.   PLoS One

Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia

(2013) Pierluigi Marzuillo et al.   BMC Medical Genetics

Epigenetic Mechanisms of Rubinstein–Taybi Syndrome

(2013) Elizabeth Park et al.   NEUROMOLECULAR MEDICINE

L3MBTL2 Protein Acts in Concert with PcG Protein-Mediated Monoubiquitination of H2A to Establish a Repressive Chromatin Structure

(2011) Patrick Trojer et al.   MOLECULAR CELL

Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein–Taybi syndrome detected by aCGH

(2010) Anne Chun-Hui Tsai et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Rubinstein–Taybi syndrome (CREBBP, EP300)

(2010) Martine van Belzen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Spectrum of CREBBP mutations in Indian patients with Rubinstein-Taybi syndrome

(2010) Neeti Sharma et al.   JOURNAL OF BIOSCIENCES

Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome

(2009) Oliver Bartsch et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Further case of Rubinstein-Taybi syndrome due to a deletion in EP300

(2009) Patricia Foley et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The mammalian anti-proliferative BTG/Tob protein family

(2009) G. Sebastiaan Winkler   JOURNAL OF CELLULAR PHYSIOLOGY

Haploinsufficiency of the MLL and TOB2 genes in lymphoid malignancy

(2009) Q An et al.   LEUKEMIA

Syndromic features and mild cognitive impairment in mice with genetic reduction on p300 activity: Differential contribution of p300 and CBP to Rubinstein–Taybi syndrome etiology

(2009) Jose Viosca et al.   NEUROBIOLOGY OF DISEASE

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

Nuclear Localization of Cytoplasmic Poly(A)-Binding Protein upon Rotavirus Infection Involves the Interaction of NSP3 with eIF4G and RoXaN

(2008) M. Harb et al.   JOURNAL OF VIROLOGY