Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.
about
Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thicknessMutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growthXLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencingAdvances in understanding - genetic basis of intellectual disabilityFragile X and X-linked intellectual disability: four decades of discoveryThalamic reticular impairment underlies attention deficit in Ptchd1(Y/-) mice.A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity?X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genesVariants in CUL4B are associated with cerebral malformationsLack of Wdr13 gene in mice leads to enhanced pancreatic beta cell proliferation, hyperinsulinemia and mild obesityComparative analysis of protocadherin-11 X-linked expression among postnatal rodents, non-human primates, and songbirds suggests its possible involvement in brain evolutionCopy-number gains of HUWE1 due to replication- and recombination-based rearrangementsXp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability.IL1RAPL1 gene deletion as a cause of X-linked intellectual disability and dysmorphic featuresAn inside job: how endosomal Na(+)/H(+) exchangers link to autism and neurological diseaseHuman PTCHD3 nulls: rare copy number and sequence variants suggest a non-essential gene.Gene survival and death on the human Y chromosomeThe mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability.A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A.Diminishing return for increased Mappability with longer sequencing reads: implications of the k-mer distributions in the human genomeGenomic medicine and neurological disease.Defects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptoms.Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome.Errors in RNA-Seq quantification affect genes of relevance to human disease.Next-generation sequencing in X-linked intellectual disability.Excess variants in AFF2 detected by massively parallel sequencing of males with autism spectrum disorderA noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disabilityDe Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital MalformationsXp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders.Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability.Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis.Protocadherin 11X/Y a human-specific gene pair: an immunohistochemical survey of fetal and adult brains.The protocadherin 11X/Y (PCDH11X/Y) gene pair as determinant of cerebral asymmetry in modern Homo sapiensLessons learned from additional research analyses of unsolved clinical exome cases.Genome arrays for the detection of copy number variations in idiopathic mental retardation, idiopathic generalized epilepsy and neuropsychiatric disorders: lessons for diagnostic workflow and research.Developmental psychopathology: the role of structural variation in the genome.Diagnostic yield of array comparative genomic hybridization in adults with autism spectrum disorders.An atlas of tissue-specific conserved coexpression for functional annotation and disease gene prediction.Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor gene.Identification of novel candidate disease genes from de novo exonic copy number variants.
P2860
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P2860
Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.
description
2010 nî lūn-bûn
@nan
2010 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Fine-scale survey of X chromos ...... lying intellectual disability.
@ast
Fine-scale survey of X chromos ...... lying intellectual disability.
@en
Fine-scale survey of X chromos ...... lying intellectual disability.
@nl
type
label
Fine-scale survey of X chromos ...... lying intellectual disability.
@ast
Fine-scale survey of X chromos ...... lying intellectual disability.
@en
Fine-scale survey of X chromos ...... lying intellectual disability.
@nl
prefLabel
Fine-scale survey of X chromos ...... lying intellectual disability.
@ast
Fine-scale survey of X chromos ...... lying intellectual disability.
@en
Fine-scale survey of X chromos ...... lying intellectual disability.
@nl
P2093
P2860
P50
P1476
Fine-scale survey of X chromos ...... lying intellectual disability.
@en
P2093
Andrea Licata
Anna Hackett
Catherine A Boucher
Charles E Schwartz
Cindy Skinner
F Lucy Raymond
Fatima Abidi
Georgina Parkin
Gillian Turner
Jackie Boyle
P2860
P304
P356
10.1016/J.AJHG.2010.06.017
P407
P577
2010-07-22T00:00:00Z