相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Landscape of DNA methylation on the X chromosome reflects CpG density, functional chromatin state and X-chromosome inactivation
Allison M. Cotton et al.
HUMAN MOLECULAR GENETICS (2015)
Analysis of gene expression data using a linear mixed model/finite mixture model approach: application to regional differences in the human brain
Daniah Trabzuni et al.
BIOINFORMATICS (2014)
Copy number variants (CNVs) analysis in a deeply phenotyped cohort of individuals with intellectual disability (ID)
Ying Qiao et al.
BMC MEDICAL GENETICS (2014)
Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability
Frederic Tran Mau-Them et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2014)
Diagnostic Exome Sequencing Identifies Two Novel IQSEC2 Mutations Associated with X-Linked Intellectual Disability with Seizures: Implications for Genetic Counseling and Clinical Diagnosis
Stephanie K. Gandomi et al.
JOURNAL OF GENETIC COUNSELING (2014)
Refining analyses of copy number variation identifies specific genes associated with developmental delay
Bradley P. Coe et al.
NATURE GENETICS (2014)
Cellular Resolution Maps of X Chromosome Inactivation: Implications for Neural Development, Function, and Disease
Hao Wu et al.
NEURON (2014)
The Nucleosome Assembly Protein TSPYL2 Regulates the Expression of NMDA Receptor Subunits GluN2A and GluN2B
Ka Hing Tsang et al.
SCIENTIFIC REPORTS (2014)
Refinement and Discovery of New Hotspots of Copy-Number Variation Associated with Autism Spectrum Disorder
Santhosh Girirajan et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome
Cristina Gervasini et al.
BMC MEDICAL GENETICS (2013)
Pathogenic or not? Assessing the clinical relevance of copy number variants
J. Y. Hehir-Kwa et al.
CLINICAL GENETICS (2013)
Clinical Significance of De Novo and Inherited Copy-Number Variation
Anneke T. Vulto-van Silfhout et al.
HUMAN MUTATION (2013)
Genes That Escape X-Inactivation in Humans Have High Intraspecific Variability in Expression, Are Associated with Mental Impairment but Are Not Slow Evolving
Yuchao Zhang et al.
MOLECULAR BIOLOGY AND EVOLUTION (2013)
De novo mutations in epileptic encephalopathies
Andrew S. Allen et al.
NATURE (2013)
A Noncoding, Regulatory Mutation Implicates HCFC1 in Nonsyndromic Intellectual Disability
Lingli Huang et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Copy-Number Gains of HUWE1 Due to Replication- and Recombination-Based Rearrangements
Guy Froyen et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
In-frame Multi-Exon Deletion of SMC1A in a Severely Affected Female with Cornelia de Lange Syndrome
Nicole Hoppman-Chaney et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)
Sporadic male patients with intellectual disability: Contribution of X-chromosome copy number variants
M. Isrie et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2012)
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
Anita Rauch et al.
LANCET (2012)
Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder
Josephine Elia et al.
NATURE GENETICS (2012)
Copy number variations in neurodevelopmental disorders
Hannah M. Grayton et al.
PROGRESS IN NEUROBIOLOGY (2012)
Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE
C. Nava et al.
TRANSLATIONAL PSYCHIATRY (2012)
Genes that escape from X inactivation
Joel B. Berletch et al.
HUMAN GENETICS (2011)
A copy number variation morbidity map of developmental delay
Gregory M. Cooper et al.
NATURE GENETICS (2011)
Fine-Scale Survey of X Chromosome Copy Number Variants and Indels Underlying Intellectual Disability
Annabel C. Whibley et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
David T. Miller et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Hypertrophic Cardiomyopathy in a Girl With Cornelia de Lange Syndrome Due to Mutation in SMC1A
Giuseppe Limongelli et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation
Sinitdhorn Rujirabanjerd et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2010)
Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability
Cheryl Shoubridge et al.
NATURE GENETICS (2010)
A de novo paradigm for mental retardation
Lisenka E. L. M. Vissers et al.
NATURE GENETICS (2010)
A review of trisomy X (47, XXX)
Nicole R. Tartaglia et al.
ORPHANET JOURNAL OF RARE DISEASES (2010)
Array analysis and karyotyping: Workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands
Ron Hochstenbach et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2009)
A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease
Heather C. Mefford et al.
GENOME RESEARCH (2009)
A novel hypomorphic MECP2 point mutation is associated with a neuropsychiatric phenotype
Abidemi A. Adegbola et al.
HUMAN GENETICS (2009)
SMC1A Expression and Mechanism of Pathogenicity in Probands with X-Linked Cornelia de Lange Syndrome
Jinglan Liu et al.
HUMAN MUTATION (2009)
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation
Guy Froyen et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
IQ-ArfGEF/BRAG1 is a guanine nucleotide exchange factor for Arf6 that interacts with PSD-95 at postsynaptic density of excitatory synapses
Hiroyuki Sakagami et al.
NEUROSCIENCE RESEARCH (2008)
Large-scale population study of human cell lines indicates that dosage compensation is virtually complete
Colette M. Johnston et al.
PLOS GENETICS (2008)
Mutations in JARID1C are associated with X-linked mental retardation, short stature and hyperreflexia
F. E. Abidi et al.
JOURNAL OF MEDICAL GENETICS (2008)
Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH:: Important role for increased gene dosage of XLMR genes
Guy Froyen et al.
HUMAN MUTATION (2007)
Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation
Matthew A. Deardorff et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Deletion of Exon 16 of the Dystrophin Gene Is Not Associated With Disease
Marianne Schwartz et al.
HUMAN MUTATION (2007)
BRAG1, a Sec7 domain-containing protein, is a component of the postsynaptic density of excitatory synapses
Jessica A. Murphy et al.
BRAIN RESEARCH (2006)
X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations
A Musio et al.
NATURE GENETICS (2006)
Novel JARID1C/SMCX Mutations in Patients With Xlinked Mental Retardation
A Tzschach et al.
HUMAN MUTATION (2006)
Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males
H Van Esch et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation
LR Jensen et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
Transcriptional modification by a CASK-interacting nucleosome assembly protein
GS Wang et al.
NEURON (2004)
Comparative sequence and X-inactivation analyses of a domain of escape in human Xpll.2 and the conserved segment in mouse
KD Tsuchiya et al.
GENOME RESEARCH (2004)
分享论文
