X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation.
about
Copy-number gains of HUWE1 due to replication- and recombination-based rearrangementsModeling read counts for CNV detection in exome sequencing data.Whole genome distribution and ethnic differentiation of copy number variation in Caucasian and Asian populations.DeAnnCNV: a tool for online detection and annotation of copy number variations from whole-exome sequencing dataClinical impacts of genomic copy number gains at Xq28Copy number variation in the genomes of twelve natural isolates of Caenorhabditis elegansFine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation conditionCoffin-Lowry syndrome.Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair.Searching for Copy Number Changes in Nonsyndromic X-Linked Intellectual Disability.Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardationDistal Xq duplication and functional Xq disomy.Genome-wide association study suggested copy number variation may be associated with body mass index in the Chinese population.Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination.The HECT Family Ubiquitin Ligase EEL-1 Regulates Neuronal Function and Development.Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism.Infectious and immunologic phenotype of MECP2 duplication syndrome.No association between general cognitive ability and rare copy number variation.An Xp22.12 microduplication including RPS6KA3 identified in a family with variably affected intellectual and behavioral disabilities.Tau's role in the developing brain: implications for intellectual disability.Fine mapping of Xq11.1-q21.33 and mutation screening of RPS6KA6, ZNF711, ACSL4, DLG3, and IL1RAPL2 for autism spectrum disorders (ASD).Copy-number variations on the X chromosome in Japanese patients with mental retardation detected by array-based comparative genomic hybridization analysis.Clinical utility of the X-chromosome array.Intragenic rearrangements in X-linked intellectual deficiency: results of a-CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genesDuplication at Xq13.3-q21.1 with syndromic intellectual disability, a probable role for theATRXgene
P2860
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P2860
X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation.
description
2007 nî lūn-bûn
@nan
2007 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
X-chromosome tiling path array ...... e X-linked mental retardation.
@ast
X-chromosome tiling path array ...... e X-linked mental retardation.
@en
X-chromosome tiling path array ...... e X-linked mental retardation.
@nl
type
label
X-chromosome tiling path array ...... e X-linked mental retardation.
@ast
X-chromosome tiling path array ...... e X-linked mental retardation.
@en
X-chromosome tiling path array ...... e X-linked mental retardation.
@nl
prefLabel
X-chromosome tiling path array ...... e X-linked mental retardation.
@ast
X-chromosome tiling path array ...... e X-linked mental retardation.
@en
X-chromosome tiling path array ...... e X-linked mental retardation.
@nl
P2093
P2860
P50
P356
P1433
P1476
X-chromosome tiling path array ...... me X-linked mental retardation
@en
P2093
B Rodriguez
I Fernández
J A Arranz
L A Pérez-Jurado
L Armengol
L Rodríguez-Revenga
P2860
P2888
P356
10.1186/1471-2164-8-443
P407
P50
P577
2007-11-29T00:00:00Z
P5875
P6179
1049282767