Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip.
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Frequency of mitochondrial mutations in non-syndromic hearing loss as well as possibly responsible variants found by whole mitochondrial genome screeningRecent advances in the study of age-related hearing loss: a mini-review.Non-syndromic Hearing Impairment in a Hungarian Family with the m.7510T>C Mutation of Mitochondrial tRNA(Ser(UCN)) and Review of Published Cases.Mitochondrial variants in schizophrenia, bipolar disorder, and major depressive disorderReseqChip: automated integration of multiple local context probe data from the MitoChip array in mitochondrial DNA sequence assembly.Systematic analysis of mitochondrial genes associated with hearing loss in the Japanese population: dHPLC reveals a new candidate mutationMitochondrial genome sequence analysis: a custom bioinformatics pipeline substantially improves Affymetrix MitoChip v2.0 call rate and accuracy.Postlingual hearing loss as a mitochondrial 3243A>G mutation phenotypeMitochondrial Variations in Non-Small Cell Lung Cancer (NSCLC) Survival.A meta-analysis and systematic review of the prevalence of mitochondrially encoded 12S RNA in the general population: Is there a role for screening neonates requiring aminoglycosides?Analysis of mitochondrial alterations in Brazilian patients with sensorineural hearing loss using MALDI-TOF mass spectrometry.A Cost-Effective Approach to Sequence Hundreds of Complete Mitochondrial Genomes.Mutations in the mitochondrial tRNA Ser(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy.Mitochondrial DNA mutation screening in an ethnically diverse nonsyndromic deafness cohort.Mitochondrial mutations in maternally inherited hearing loss.Mitochondrial tRNA-serine (AGY) m.C12264T mutation causes severe multisystem disease with cataracts.Functional recurrent mutations in the human mitochondrial phylogeny: dual roles in evolution and diseaseMitochondrial oxidative damage and apoptosis in age-related hearing loss.The role of mitochondrial DNA mutations in hearing loss.An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature.Novel mitochondrial DNA mutations responsible for maternally inherited nonsyndromic hearing loss.Large scale mtDNA sequencing reveals sequence and functional conservation as major determinants of homoplasmic mtDNA variant distribution.Genetic Epidemiology of Mitochondrial Pathogenic Variants Causing Nonsyndromic Hearing Loss in a Large Cohort of South Indian Hearing Impaired Individuals.PharmGKB summary: very important pharmacogene information for MT-RNR1.Mitochondrial DNA mutations associated with aminoglycoside induced ototoxicity.
P2860
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P2860
Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年学术文章
@wuu
2007年学术文章
@zh
2007年学术文章
@zh-cn
2007年学术文章
@zh-hans
2007年学术文章
@zh-my
2007年学术文章
@zh-sg
2007年學術文章
@yue
2007年學術文章
@zh-hant
name
Whole mitochondrial genome scr ...... encing mitochondrial DNA chip.
@en
Whole mitochondrial genome scr ...... encing mitochondrial DNA chip.
@nl
type
label
Whole mitochondrial genome scr ...... encing mitochondrial DNA chip.
@en
Whole mitochondrial genome scr ...... encing mitochondrial DNA chip.
@nl
prefLabel
Whole mitochondrial genome scr ...... encing mitochondrial DNA chip.
@en
Whole mitochondrial genome scr ...... encing mitochondrial DNA chip.
@nl
P2093
P2860
P50
P356
P1476
Whole mitochondrial genome scr ...... encing mitochondrial DNA chip.
@en
P2093
Christian Duvillard
Christine Francannet
Delphine Feldmann
Denis Pierron
Eréa-Noël Garabedian
Françoise Denoyelle
Françoise Duriez
Hubert Journel
Hélène Catros
Hélène Dollfus
P2860
P2888
P304
P356
10.1038/SJ.EJHG.5201891
P577
2007-07-18T00:00:00Z