Utility of oligonucleotide array-based comparative genomic hybridization for detection of target gene deletions.
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Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concernsGenotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation UpdateIdentification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathiesSingle exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes.Inspissated bile syndrome in an infant with citrin deficiency and congenital anomalies of the biliary tract and esophagus: identification and pathogenicity analysis of a novel SLC25A13 mutation with incomplete penetrance.Enhancer chip: detecting human copy number variations in regulatory elementsSLC25A13 gene analysis in citrin deficiency: sixteen novel mutations in East Asian patients, and the mutation distribution in a large pediatric cohort in China.Microdeletion and microduplication analysis of chinese conotruncal defects patients with targeted array comparative genomic hybridizationBiochemical analysis of human POLG2 variants associated with mitochondrial disease.Improved molecular diagnosis by the detection of exonic deletions with target gene capture and deep sequencing.Detection of clinically relevant exonic copy-number changes by array CGH.Two patients with hepatic mtDNA depletion syndromes and marked elevations of S-adenosylmethionine and methionineDiagnostic and treatment strategies in mucopolysaccharidosis VI.Array-based Identification of Copy Number Changes in a Diagnostic Setting: Simultaneous gene-focused and low resolution whole human genome analysis.Challenges of bringing next generation sequencing technologies to clinical molecular diagnostic laboratoriesMolecular characterization of CPS1 deletions by array CGHCustom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple targeted genes.Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.Potentially diagnostic electron paramagnetic resonance spectra elucidate the underlying mechanism of mitochondrial dysfunction in the deoxyguanosine kinase deficient rat model of a genetic mitochondrial DNA depletion syndromeCurrent molecular genetics strategies for the diagnosis of lysosomal storage disorders.Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 geneIdentification of genetic susceptibility to childhood cancer through analysis of genes in parallel.Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects.Transition to next generation analysis of the whole mitochondrial genome: a summary of molecular defects.Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations.Application of dual-genome oligonucleotide array-based comparative genomic hybridization to the molecular diagnosis of mitochondrial DNA deletion and depletion syndromes.The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia
P2860
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P2860
Utility of oligonucleotide array-based comparative genomic hybridization for detection of target gene deletions.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
2008年學術文章
@zh
2008年學術文章
@zh-hant
name
Utility of oligonucleotide arr ...... tion of target gene deletions.
@en
type
label
Utility of oligonucleotide arr ...... tion of target gene deletions.
@en
prefLabel
Utility of oligonucleotide arr ...... tion of target gene deletions.
@en
P2093
P1433
P1476
Utility of oligonucleotide arr ...... ction of target gene deletions
@en
P2093
A Craig Chinault
Ellen K Brundage
Fernando Scaglia
Lee-Jun C Wong
Michael T Geraghty
Richard Quan
Uta Lichter-Konecki
P304
P356
10.1373/CLINCHEM.2008.103721
P407
P577
2008-05-16T00:00:00Z