Genome-wide oligonucleotide array comparative genomic hybridization for etiological diagnosis of mental retardation: a multicenter experience of 1499 clinical cases.
about
Clinical and molecular cytogenetic analyses of four families with 1q21.1 microdeletion or microduplication.Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.A new case of de novo 19p13.2p13.12 deletion in a girl with overgrowth and severe developmental delayDiscovery of variants unmasked by hemizygous deletions.Genetic effects of a 13q31.1 microdeletion detected by noninvasive prenatal testing (NIPT)Epilepsy and the new cytogenetics.Routine chromosomal microarray analysis is necessary in Korean patients with unexplained developmental delay/mental retardation/autism spectrum disorder.Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies.Atypical face shape and genomic structural variants in epilepsy.Array-based comparative genomic hybridization is more informative than conventional karyotyping and fluorescence in situ hybridization in the analysis of first-trimester spontaneous abortionFrequent detection of parental consanguinity in children with developmental disorders by a combined CGH and SNP microarray.Identification of rare variants in KCTD13 at the schizophrenia risk locus 16p11.2.Application of array-based comparative genomic hybridization to pediatric neurologic diseasesApplication of array-comparative genomic hybridization in tetralogy of Fallot.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.The role of high-throughput technologies in clinical cancer genomics.Chromosomal microarray in a highly consanguineous population: diagnostic yield, utility of regions of homozygosity, and novel mutations.From genetics to genomics of epilepsy.Obtaining a genetic diagnosis in a child with disability: impact on parental quality of life.Cytogenomic mapping and bioinformatic mining reveal interacting brain expressed genes for intellectual disability.Evidence-based genomic diagnosis characterized chromosomal and cryptic imbalances in 30 elderly patients with myelodysplastic syndrome and acute myeloid leukemia17q23.2q23.3 de novo duplication in association with speech and language disorder, learning difficulties, incoordination, motor skill impairment, and behavioral disturbances: a case report.De novo chromosome 7q36.1q36.2 triplication in a child with developmental delay, growth failure, distinctive facial features, and multiple congenital anomalies: a case reportReferral patterns for microarray testing in prenatal diagnosis.Ring Chromosome 17 Not Involving the Miller-Dieker Region: A Case with Drug-Resistant Epilepsy.The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.De Novo 1.77-Mb Microdeletion of 10q22.2q22.3 in a Girl With Developmental Delay, Speech Delay, Congenital Cleft Palate, and Bilateral Hearing Impairment.Application of high resolution SNP arrays in patients with congenital oral clefts in south China.Genomic characterization of prenatally detected chromosomal structural abnormalities using oligonucleotide array comparative genomic hybridization.Chromosomal Microarray With Clinical Diagnostic Utility in Children With Developmental Delay or Intellectual Disability
P2860
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P2860
Genome-wide oligonucleotide array comparative genomic hybridization for etiological diagnosis of mental retardation: a multicenter experience of 1499 clinical cases.
description
2010 nî lūn-bûn
@nan
2010 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հունվարին 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
Genome-wide oligonucleotide ar ...... rience of 1499 clinical cases.
@ast
Genome-wide oligonucleotide ar ...... rience of 1499 clinical cases.
@en
type
label
Genome-wide oligonucleotide ar ...... rience of 1499 clinical cases.
@ast
Genome-wide oligonucleotide ar ...... rience of 1499 clinical cases.
@en
prefLabel
Genome-wide oligonucleotide ar ...... rience of 1499 clinical cases.
@ast
Genome-wide oligonucleotide ar ...... rience of 1499 clinical cases.
@en
P2093
P2860
P1476
Genome-wide oligonucleotide ar ...... rience of 1499 clinical cases.
@en
P2093
Bai-Lin Wu
Bixia Xiang
David T Miller
Hans C Andersson
Hongbo Zhu
Jose E Martinez
Marilyn M Li
Peining Li
Tarachandra M Narumanchi
P2860
P304
P356
10.2353/JMOLDX.2010.090115
P577
2010-01-21T00:00:00Z