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

CREBBPmutations in individuals without Rubinstein-Taybi syndrome phenotype

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

Mutation of the CH1 Domain in the Histone Acetyltransferase CREBBP Results in Autism-Relevant Behaviors in Mice

(2016) Fei Zheng et al.   PLoS One

Expanding the phenotypic spectrum inEP300-related Rubinstein-Taybi syndrome

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

Protein Lysine Acetylation by p300/CBP

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

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 in an Indian Child due to EP300 Gene Mutation

(2015) Parag M. Tamhankar et al.   INDIAN JOURNAL OF PEDIATRICS

Meta-Analysis of Placental Transcriptome Data Identifies a Novel Molecular Pathway Related to Preeclampsia

(2015) Miranda van Uitert et al.   PLoS One

Gene expression profiling of pre-eclamptic placentae by RNA sequencing

(2015) Tea Kaartokallio et al.   Scientific Reports

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

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

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 potential impact of the fetal genotype on maternal blood pressure during pregnancy

(2014) Clive J. Petry et al.   JOURNAL OF HYPERTENSION

Towards a better understanding of cognitive behaviors regulated by gene expression downstream of activity-dependent transcription factors

(2014) Mio Nonaka et al.   NEUROBIOLOGY OF LEARNING AND MEMORY

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

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

(2012) Tatsuhiko Yagihashi et al.   CONGENITAL ANOMALIES

Next-generation sequencing demands next-generation phenotyping

(2012) Raoul C.M. Hennekam et al.   HUMAN MUTATION

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

Pre-eclampsia

(2010) Eric AP Steegers et al.   LANCET

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

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

CDKN1C Mutations in HELLP/Preeclamptic Mothers of Beckwith–Wiedemann Syndrome (BWS) Patients

(2009) V. Romanelli et al.   PLACENTA

Genotype-phenotype correlations in Rubinstein-Taybi syndrome

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