Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping.
about
A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disordersMosaic structural variation in children with developmental disordersSNP arrays: comparing diagnostic yields for four platforms in children with developmental delay.Diagnostic utility of novel combined arrays for genome-wide simultaneous detection of aneuploidy and uniparental isodisomy in losses of pregnancy.Meeting the challenge of interpreting high-resolution single nucleotide polymorphism array data in prenatal diagnosis: does increased diagnostic power outweigh the dilemma of rare variants?A mouse splice-site mutant and individuals with atypical chromosome 22q11.2 deletions demonstrate the crucial role for crkl in craniofacial and pharyngeal development.Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases.Long contiguous stretches of homozygosity spanning shortly the imprinted loci are associated with intellectual disability, autism and/or epilepsy.CNV analysis in Chinese children of mental retardation highlights a sex differentiation in parental contribution to de novo and inherited mutational burdensFrequent detection of parental consanguinity in children with developmental disorders by a combined CGH and SNP microarray.Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing.Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexesRare autosomal trisomies, revealed by maternal plasma DNA sequencing, suggest increased risk of feto-placental disease.Detection of structural mosaicism from targeted and whole-genome sequencing data.Clinical utility of chromosomal microarray analysis of DNA from buccal cells: detection of mosaicism in three patients.Chromosomal Microarrays: Understanding Genetics of Neurodevelopmental Disorders and Congenital Anomalies.Key informants' perspectives of implementing chromosomal microarrays into clinical practice in Australia.Types of array findings detectable in cytogenetic diagnosis: a proposal for a generic classificationDefining the impact of maternal cell contamination on the interpretation of prenatal microarray analysis.Should embryos with autosomal monosomy by preimplantation genetic testing for aneuploidy be transferred?: Implications for embryo selection from a systematic literature review of autosomal monosomy survivors.Genetic counselling and ethical issues with chromosome microarray analysis in prenatal testing.Low-Level Chromosomal Mosaicism in Neurodevelopmental Disorders.Syndrome diagnosis with single-nucleotide polymorphism (SNP) microarray.Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today's genomic array era?Practice guideline: joint CCMG-SOGC recommendations for the use of chromosomal microarray analysis for prenatal diagnosis and assessment of fetal loss in Canada.
P2860
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P2860
Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping.
description
2011 nî lūn-bûn
@nan
2011 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Pathogenic aberrations reveale ...... sted by molecular karyotyping.
@ast
Pathogenic aberrations reveale ...... sted by molecular karyotyping.
@en
Pathogenic aberrations revealed exclusively by single nucleotide polymorphism
@nl
type
label
Pathogenic aberrations reveale ...... sted by molecular karyotyping.
@ast
Pathogenic aberrations reveale ...... sted by molecular karyotyping.
@en
Pathogenic aberrations revealed exclusively by single nucleotide polymorphism
@nl
prefLabel
Pathogenic aberrations reveale ...... sted by molecular karyotyping.
@ast
Pathogenic aberrations reveale ...... sted by molecular karyotyping.
@en
Pathogenic aberrations revealed exclusively by single nucleotide polymorphism
@nl
P2093
P921
P1476
Pathogenic aberrations reveale ...... sted by molecular karyotyping.
@en
P2093
H R Slater
K Prabhakara
P304
P356
10.1136/JMEDGENET-2011-100372
P407
P577
2011-10-29T00:00:00Z