The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
出版年份 2018 全文链接
标题
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
作者
关键词
-
出版物
GENETICS IN MEDICINE
Volume -, Issue -, Pages -
出版商
Springer Nature America, Inc
发表日期
2018-10-22
DOI
10.1038/s41436-018-0330-z
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment
- (2017) Cemre Celen et al. eLife
- A novel familial autosomal dominant mutation inARID1Bcausing neurodevelopmental delays, short stature, and dysmorphic features
- (2016) Joshua A. Smith et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Hirschsprung disease as a yet undescribed phenotype in a patient withARID1Bmutation
- (2016) Toshiki Takenouchi et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- ARID1Bmutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability
- (2016) Cyril Mignot et al. BRAIN
- Clinical exome sequencing: results from 2819 samples reflecting 1000 families
- (2016) Daniel Trujillano et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Random Splicing of Several Exons Caused by a Single Base Change in the Target Exon of CRISPR/Cas9 Mediated Gene Knockout
- (2016) Marcel Kapahnke et al. Cells
- Individualized Iterative Phenotyping for Genome-wide Analysis of Loss-of-Function Mutations
- (2015) Jennifer J. Johnston et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Gonadal mosaicism inARID1Bgene causes intellectual disability and dysmorphic features in three siblings
- (2015) Salma Ben-Salem et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Coffin–Siris and Nicolaides–Baraitser syndromes are a common well recognizable cause of intellectual disability
- (2015) Francesca Mari et al. BRAIN & DEVELOPMENT
- Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data
- (2015) Caroline F Wright et al. LANCET
- Papillary thyroid cancer in a patient with interstitial 6q25 deletion includingARID1B
- (2014) Jaime Vengoechea et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Disruption of theARID1BandADAMTS6loci due to a t(5;6)(q12.3;q25.3) in a patient with developmental delay
- (2014) Theodora Malli et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- TheARID1Bphenotype: What we have learned so far
- (2014) Gijs W.E. Santen et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
- The role of BAF (mSWI/SNF) complexes in mammalian neural development
- (2014) Esther Y. Son et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
- SWI/SNF chromatin remodeling complexes and cancer
- (2014) Jaclyn A. Biegel et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
- Coffin–Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene
- (2014) Mari-Anne Vals et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Large-scale discovery of novel genetic causes of developmental disorders
- (2014) T. W. Fitzgerald et al. NATURE
- A systematic review and meta-analysis to revise the Fenton growth chart for preterm infants
- (2013) Tanis R Fenton et al. BMC Pediatrics
- Coffin-Siris syndrome is a SWI/SNF complex disorder
- (2013) Y. Tsurusaki et al. CLINICAL GENETICS
- A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling
- (2013) Dagmar Wieczorek et al. HUMAN MOLECULAR GENETICS
- Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients
- (2013) Gijs W.E. Santen et al. HUMAN MUTATION
- PhenoTips: Patient Phenotyping Software for Clinical and Research Use
- (2013) Marta Girdea et al. HUMAN MUTATION
- Haploinsufficiency of ARID1B , a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability
- (2012) Juliane Hoyer et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Estimates of penetrance for recurrent pathogenic copy-number variations
- (2012) Jill A. Rosenfeld et al. GENETICS IN MEDICINE
- Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome
- (2012) Gijs W E Santen et al. NATURE GENETICS
- Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome
- (2012) Yoshinori Tsurusaki et al. NATURE GENETICS
- Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B
- (2011) C Halgren et al. CLINICAL GENETICS
- Reduced transcript expression of genes affected by inherited and de novo CNVs in autism
- (2011) Alex S Nord et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- A Balanced Translocation t(6;14)(q25.3;q13.2) Leading to Reciprocal Fusion Transcripts in a Patient with Intellectual Disability and Agenesis of Corpus Callosum
- (2010) L. Backx et al. CYTOGENETIC AND GENOME RESEARCH
- DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources
- (2009) Helen V. Firth et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Controversies in the Definition and Treatment of Idiopathic Short Stature (ISS)
- (2009) Stefania Pedicelli et al. Journal of Clinical Research in Pediatric Endocrinology
- Pituitary hypoplasia and growth hormone deficiency in Coffin-Siris syndrome
- (2008) Anwar Baban et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
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