Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder

Chromatin Imbalance as the Vertex Between Fetal Valproate Syndrome and Chromatinopathies

(2021) Chiara Parodi et al.   Frontiers in Cell and Developmental Biology

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

(2020) Erfan Aref-Eshghi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Pathogenic variants in EP300 and ANKRD11 in patients with phenotypes overlapping Cornelia de Lange syndrome

(2020) Francesco Cucco et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome

(2020) Ana Laura Andrade Bueno et al.   ANAIS BRASILEIROS DE DERMATOLOGIA

Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes

(2020) Elisabetta Di Fede et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients

(2020) Francesco Saettini et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Transcriptome Analysis of iPSC-Derived Neurons from Rubinstein-Taybi Patients Reveals Deficits in Neuronal Differentiation

(2020) Luciano Calzari et al.   MOLECULAR NEUROBIOLOGY

EP300 ‐related Rubinstein–Taybi syndrome: Highlighted rare phenotypic findings and a genotype–phenotype meta‐analysis of 74 patients

(2020) Jennifer L. Cohen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Rubinstein‐Taybi syndrome in Chinese population with four novel mutations

(2020) Pui Tak Yu et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Screening of a large Rubinstein–Taybi cohort identified many novel variants and emphasizes the importance of the CREBBP histone acetyltransferase domain

(2020) Esther Cross et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Rubinstein–Taybi syndrome in diverse populations

(2020) Cedrik Tekendo‐Ngongang et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Paraovarian Cyst Torsion in a Patient with Rubinstein-Taybi Syndrome: A Case Report

(2020) Jun Kuwabara et al.   JOURNAL OF NIPPON MEDICAL SCHOOL

Fetal phenotype of Rubinstein-Taybi syndrome caused by CREBBP mutations

(2019) Julien Van-Gils et al.   CLINICAL GENETICS

Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders

(2019) Gloria Negri et al.   HUMAN GENETICS

Rubinstein–Taybi syndrome 2 with cerebellar abnormality and neural tube defect

(2019) Kinga Hadzsiev et al.   CLINICAL DYSMORPHOLOGY

Genotype–phenotype specificity in Menke–Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP

(2019) Siddharth Banka et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Tissue-specific mosaicism in a patient with Rubinstein–Taybi syndrome and CREBBP exon 1 duplication

(2019) Zoran S. Gucev et al.   CLINICAL DYSMORPHOLOGY

New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐ positive patients

(2019) Virginia Pérez‐Grijalba et al.   Molecular Genetics & Genomic Medicine

Mendelian disorders of the epigenetic machinery: postnatal malleability and therapeutic prospects

(2019) Jill A Fahrner et al.   HUMAN MOLECULAR GENETICS

Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach

(2019) Patrizia Sarogni et al.   JOURNAL OF MEDICAL GENETICS

Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein–Taybi Syndrome kids with high frequency of polydactyly

(2019) Sha Yu et al.   Molecular Genetics & Genomic Medicine

Benign and malignant tumors in Rubinstein-Taybi syndrome

(2018) Max V. Boot et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome

(2018) Leonie A. Menke et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

(2018) Paola F. Ajmone et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Chemical and genetic rescue of an ep300 knockdown model for Rubinstein Taybi Syndrome in zebrafish

(2018) Aswini Babu et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum

(2018) María López et al.   BMC Medical Genetics

Time-Resolved Analysis Reveals Rapid Dynamics and Broad Scope of the CBP/p300 Acetylome

(2018) Brian T. Weinert et al.   CELL

Developmental disorders with intellectual disability driven by chromatin dysregulation: Clinical overlaps and molecular mechanisms

(2018) L. Larizza et al.   CLINICAL GENETICS

Modulating the masters: chemical tools to dissect CBP and p300 function

(2018) Meghan E Breen et al.   CURRENT OPINION IN CHEMICAL BIOLOGY

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

(2018) Antonie D. Kline et al.   NATURE REVIEWS GENETICS

iPSC-derived neurons of CREBBP - and EP300 -mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability

(2018) Valentina Alari et al.   Stem Cell Research

Primary Diffuse Large B-Cell Lymphoma in a Patient with Rubinstein–Taybi Syndrome: Case Report and Review of the Literature

(2018) Christopher Sy et al.   World Neurosurgery

Rubinstein-Taybi Syndrome in a Fetus: Contribution of 2- and 3-Dimensional Ultrasonography

(2017) Claire Cardalliac et al.   JOURNAL OF ULTRASOUND IN MEDICINE

Prenatal Sonographic Diagnosis of Rubinstein-Taybi Syndrome

(2017) Elena Greco et al.   JOURNAL OF ULTRASOUND IN MEDICINE

CREBBPmutations in individuals without Rubinstein-Taybi syndrome phenotype

(2016) Leonie A. Menke et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused byEP300mutations

(2016) Patricia Fergelot et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant

(2016) María López et al.   BMC Medical Genetics

Electroclinical phenotype in Rubinstein–Taybi syndrome

(2016) Antonella Giacobbe et al.   BRAIN & DEVELOPMENT

Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi and Filippi syndromes

(2016) Tamar I de Vries et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Rubinstein-Taybi syndrome with multiple pilomatricomas: The first case diagnosed by CREBBP mutation analysis

(2016) Daiki Rokunohe et al.   JOURNAL OF DERMATOLOGICAL SCIENCE

The molecular hallmarks of epigenetic control

(2016) C. David Allis et al.   NATURE REVIEWS GENETICS

Expanding the phenotypic spectrum inEP300-related Rubinstein-Taybi syndrome

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

Clinical and mutational spectrum in Korean patients with Rubinstein–Taybi syndrome: The spectrum of brain MRI abnormalities

(2015) Jin Sook Lee et al.   BRAIN & DEVELOPMENT

Protein Lysine Acetylation by p300/CBP

(2015) Beverley M. Dancy et al.   CHEMICAL REVIEWS

The Mendelian disorders of the epigenetic machinery

(2015) Hans Tomas Bjornsson   GENOME RESEARCH

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

(2015) Daniela Rusconi et al.   HUMAN GENETICS

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

(2015) Gloria Negri et al.   HUMAN MUTATION

Rubinstein-Taybi Syndrome

(2015) Douglas T. Hutchinson et al.   JOURNAL OF HAND SURGERY-AMERICAN VOLUME

Hepatoblastoma in Rubinstein-Taybi Syndrome: A Case Report

(2015) Donatella Milani et al.   PEDIATRIC BLOOD & CANCER

CREBBPandEP300mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome

(2015) Josephine Wincent et al.   Molecular Genetics & Genomic Medicine

Growth charts for individuals with Rubinstein-Taybi syndrome

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

Unusual prenatal presentation of Rubinstein-Taybi syndrome: A case report

(2014) Maria Francesca Bedeschi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mendelian Disorders of the Epigenetic Machinery: Tipping the Balance of Chromatin States

(2014) Jill A. Fahrner et al.   Annual Review of Genomics and Human Genetics

Keloids in Rubinstein-Taybi syndrome: a clinical study

(2014) A.L. van de Kar et al.   BRITISH JOURNAL OF DERMATOLOGY

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

Exome sequencing identifies a novelEP300frame shift mutation in a patient with features that overlap cornelia de lange syndrome

(2013) Susan A. Woods et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The Potential of HDAC Inhibitors as Cognitive Enhancers

(2013) Johannes Gräff et al.   Annual Review of Pharmacology and Toxicology

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

Transcriptional/epigenetic regulator CBP/p300 in tumorigenesis: structural and functional versatility in target recognition

(2013) Feng Wang et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Lysine Acetyltransferases CBP and p300 as Therapeutic Targets in Cognitive and Neurodegenerative Disorders

(2013) Luis Valor et al.   CURRENT PHARMACEUTICAL DESIGN

Age-dependent change in behavioral feature in Rubinstein-Taybi syndrome

(2012) Tatsuhiko Yagihashi et al.   CONGENITAL ANOMALIES

Adults with Rubinstein-Taybi syndrome

(2011) Cathy A. Stevens et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein–Taybi syndrome

(2011) J P Lopez-Atalaya et al.   JOURNAL OF MEDICAL GENETICS

Ablation of CBP in Forebrain Principal Neurons Causes Modest Memory and Transcriptional Defects and a Dramatic Reduction of Histone Acetylation But Does Not Affect Cell Viability

(2011) L. M. Valor et al.   JOURNAL OF NEUROSCIENCE

HDAC inhibition modulates hippocampus-dependent long-term memory for object location in a CBP-dependent manner

(2011) J. Haettig et al.   LEARNING & MEMORY

Hippocampal Focal Knockout of CBP Affects Specific Histone Modifications, Long-Term Potentiation and Long-Term Memory

(2011) Ruth M Barrett et al.   NEUROPSYCHOPHARMACOLOGY

Epigenetic Alterations Are Critical for Fear Memory Consolidation and Synaptic Plasticity in the Lateral Amygdala

(2011) Melissa S. Monsey et al.   PLoS One

Inheritance and variable expression in Rubinstein-Taybi syndrome

(2010) Oliver Bartsch et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Rubinstein-Taybi syndrome and Hirschsprung disease in a patient harboring an intragenic deletion of the CREBBP gene

(2010) B. Isidor et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Target gene context influences the transcriptional requirement for the KAT3 family of CBP and p300 histone acetyltransferases

(2010) David C. Bedford et al.   Epigenetics

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

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

(2010) Neeti Sharma et al.   JOURNAL OF BIOSCIENCES

CREB Binding Protein Is Required for Both Short-Term and Long-Term Memory Formation

(2010) G. Chen et al.   JOURNAL OF NEUROSCIENCE

Pre-eclampsia

(2010) Eric AP Steegers et al.   LANCET

Spatial Memory Consolidation is Associated with Induction of Several Lysine-Acetyltransferase (Histone Acetyltransferase) Expression Levels and H2B/H4 Acetylation-Dependent Transcriptional Events in the Rat Hippocampus

(2010) Olivier Bousiges et al.   NEUROPSYCHOPHARMACOLOGY

Alteration of working memory but not in anxiety or stress response in p300/CBP associated factor (PCAF) histone acetylase knockout mice bred on a C57BL/6 background

(2010) Florian Duclot et al.   NEUROSCIENCE LETTERS

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

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

Somatic and germ-line mosaicism in Rubinstein-Taybi syndrome

(2009) Pei-Wen Chiang et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genome-wide Mapping of HATs and HDACs Reveals Distinct Functions in Active and Inactive Genes

(2009) Zhibin Wang et al.   CELL

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

Genotype-phenotype correlations in Rubinstein-Taybi syndrome

(2008) E.K. Schorry et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Structure and chemistry of the p300/CBP and Rtt109 histone acetyltransferases: implications for histone acetyltransferase evolution and function

(2008) Ling Wang et al.   CURRENT OPINION IN STRUCTURAL BIOLOGY

Lysine Acetylation: Codified Crosstalk with Other Posttranslational Modifications

(2008) Xiang-Jiao Yang et al.   MOLECULAR CELL