Copy-number variations on the X chromosome in Japanese patients with mental retardation detected by array-based comparative genomic hybridization analysis.
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XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencingModify or die?--RNA modification defects in metazoansEpilepsy and intellectual disability linked protein Shrm4 interaction with GABABRs shapes inhibitory neurotransmissionDouble Xp11.22 deletion including SHROOM4 and CLCN5 associated with severe psychomotor retardation and Dent diseaseDiminishing return for increased Mappability with longer sequencing reads: implications of the k-mer distributions in the human genomeCopy number variants for schizophrenia and related psychotic disorders in Oceanic Palau: risk and transmission in extended pedigrees.Targeted inhibition of the Shroom3-Rho kinase protein-protein interaction circumvents Nogo66 to promote axon outgrowth.Errors in RNA-Seq quantification affect genes of relevance to human disease.MR Imaging Findings in Xp21.2 Duplication Syndrome.Epilepsy and mental retardation restricted to females: X-linked epileptic infantile encephalopathy of unusual inheritance.Xp22.33p22.12 Duplication in a Patient with Intellectual Disability and Dysmorphic Facial Features.Infectious and immunologic phenotype of MECP2 duplication syndrome.Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy.A family of oculofaciocardiodental syndrome (OFCD) with a novel BCOR mutation and genomic rearrangements involving NHS.Genetic Counselling Pitfall: Co-Occurrence of an 11.8-Mb Xp22 Duplication and an Xp21.2 Duplication Disrupting IL1RAPL1.Diagnostic yield of chromosomal microarray analysis in an autism primary care practice: which guidelines to implement?Concomitant microduplications of MECP2 and ATRX in male patients with severe mental retardation.Commentary on 'Identification of a microdeletion at Xp22.13 in a Taiwanese family presenting with Nance-Horan syndrome'.Functional monosomy of 6q27-qter and functional disomy of Xpter-p22.11 due to X;6 translocation with an atypical X-inactivation pattern.Clinical utility of the X-chromosome array.Familial intellectual disability and autistic behavior caused by a small FMR2 gene deletion.The Emerging Field of Epitranscriptomics in Neurodevelopmental and Neuronal Disorders.Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature
P2860
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P2860
Copy-number variations on the X chromosome in Japanese patients with mental retardation detected by array-based comparative genomic hybridization analysis.
description
2010 nî lūn-bûn
@nan
2010年の論文
@ja
2010年学术文章
@wuu
2010年学术文章
@zh
2010年学术文章
@zh-cn
2010年学术文章
@zh-hans
2010年学术文章
@zh-my
2010年学术文章
@zh-sg
2010年學術文章
@yue
2010年學術文章
@zh-hant
name
Copy-number variations on the ...... enomic hybridization analysis.
@en
Copy-number variations on the ...... enomic hybridization analysis.
@nl
type
label
Copy-number variations on the ...... enomic hybridization analysis.
@en
Copy-number variations on the ...... enomic hybridization analysis.
@nl
prefLabel
Copy-number variations on the ...... enomic hybridization analysis.
@en
Copy-number variations on the ...... enomic hybridization analysis.
@nl
P2093
P2860
P356
P1476
Copy-number variations on the ...... genomic hybridization analysis
@en
P2093
Eiji Nakagawa
Hitoshi Okazawa
Johji Inazawa
Jun Toyama
Shozo Honda
Yu-Ichi Goto
P2860
P2888
P304
P356
10.1038/JHG.2010.74
P577
2010-07-08T00:00:00Z