From Whole Gene Deletion to Point Mutations ofEP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks
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Title
From Whole Gene Deletion to Point Mutations ofEP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks
Authors
Keywords
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Journal
HUMAN MUTATION
Volume 37, Issue 2, Pages 175-183
Publisher
Wiley
Online
2015-10-21
DOI
10.1002/humu.22922
References
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Related references
Note: Only part of the references are listed.- 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
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