Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment.
about
Functional characterization of the mitochondrial 12S rRNA C1494T mutation associated with aminoglycoside-induced and non-syndromic hearing lossFrequency of mitochondrial mutations in non-syndromic hearing loss as well as possibly responsible variants found by whole mitochondrial genome screeningHearing loss caused by a P2RX2 mutation identified in a MELAS family with a coexisting mitochondrial 3243AG mutation.Causation of permanent unilateral and mild bilateral hearing loss in childrenMitochondrial DNA (mtDNA) haplotypes and dysfunctions in presbyacusisNon-syndromic Hearing Impairment in a Hungarian Family with the m.7510T>C Mutation of Mitochondrial tRNA(Ser(UCN)) and Review of Published Cases.Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China.MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene.Mitochondrial 12S rRNA variants in 1642 Han Chinese pediatric subjects with aminoglycoside-induced and nonsyndromic hearing lossMitochondrial tRNAThr G15927A mutation may modulate the phenotypic manifestation of ototoxic 12S rRNA A1555G mutation in four Chinese families.Frequency and spectrum of mitochondrial 12S rRNA variants in 440 Han Chinese hearing impaired pediatric subjects from two otology clinicsMutations in the two ribosomal RNA genes in mitochondrial DNA among Finnish children with hearing impairment.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?Mutation Spectrum of Common Deafness-Causing Genes in Patients with Non-Syndromic Deafness in the Xiamen Area, ChinaThe genetic bases for non-syndromic hearing loss among ChineseMolecular investigation of pediatric portuguese patients with sensorineural hearing loss.Analysis of mitochondrial alterations in Brazilian patients with sensorineural hearing loss using MALDI-TOF mass spectrometry.Maternally inherited aminoglycoside-induced and nonsyndromic hearing loss is associated with the 12S rRNA C1494T mutation in three Han Chinese pedigrees.Hereditary sensorineural hearing loss: advances in molecular genetics and mutation analysis.Mitochondrial COX2 G7598A mutation may have a modifying role in the phenotypic manifestation of aminoglycoside antibiotic-induced deafness associated with 12S rRNA A1555G mutation in a Han Chinese pedigree.Mitochondrial rRNA and tRNA and hearing function.Mutation Analysis of the Common Deafness Genes in Patients with Nonsyndromic Hearing Loss in Linyi by SNPscan AssayAssociation between idiopathic hearing loss and mitochondrial DNA mutations: a study on 169 hearing-impaired subjects.Genetics of aminoglycoside-induced and prelingual non-syndromic mitochondrial hearing impairment: a review.Mitochondrial haplotypes may modulate the phenotypic manifestation of the deafness-associated 12S rRNA 1555A>G mutation.Are GJB2 mutations an aggravating factor in the phenotypic expression of mitochondrial non-syndromic deafness?Genetics of hearing loss: where are we standing now?The role of mitochondrial DNA mutations in hearing loss.Whole mitochondrial genome screening in two families with hearing loss: detection of a novel mutation in the 12S rRNA gene.GJB2 and MTRNR1 contributions in children with hearing impairment from Northern Cameroon.Genetic Epidemiology of Mitochondrial Pathogenic Variants Causing Nonsyndromic Hearing Loss in a Large Cohort of South Indian Hearing Impaired Individuals.The deafness gene DFNA5 induces programmed cell death through mitochondria and MAPK-related pathwaysThe 9-bp deletion in region V of mtDNA: a risk factor of hearing loss and encephalomyopathy in Caucasian populations?GJB2 and GJB6 genes and the A1555G mitochondrial mutation are only minor causes of nonsyndromic hearing loss in the Qatari population.Exaggerated status of "novel" and "pathogenic" mtDNA sequence variants due to inadequate database searches.The m.7510T>C mutation: Hearing impairment and a complex neurologic phenotype.Simultaneous multi‑gene mutation screening using SNPscan in patients from ethnic minorities with nonsyndromic hearing‑impairment in Northwest China.Mutation Analysis of the Mitochondrial tRNA Genes in Iranian Coronary Atherosclerosis Patients.Application of next‑generation sequencing to identify mitochondrial mutations: Study on m.7511T>C in patients with hearing loss.Primer effect in the detection of mitochondrial DNA point heteroplasmy by automated sequencing.
P2860
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P2860
Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment.
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年学术文章
@wuu
2005年学术文章
@zh
2005年学术文章
@zh-cn
2005年学术文章
@zh-hans
2005年学术文章
@zh-my
2005年学术文章
@zh-sg
2005年學術文章
@yue
2005年學術文章
@zh-hant
name
Mitochondrial DNA mutations in ...... nsyndromic hearing impairment.
@en
Mitochondrial DNA mutations in ...... nsyndromic hearing impairment.
@nl
type
label
Mitochondrial DNA mutations in ...... nsyndromic hearing impairment.
@en
Mitochondrial DNA mutations in ...... nsyndromic hearing impairment.
@nl
prefLabel
Mitochondrial DNA mutations in ...... nsyndromic hearing impairment.
@en
Mitochondrial DNA mutations in ...... nsyndromic hearing impairment.
@nl
P2093
P2860
P50
P356
P1476
Mitochondrial DNA mutations in ...... nsyndromic hearing impairment.
@en
P2093
Anja T Rovio
Greta Gillies
Howard T Jacobs
John Walker
Karen Thompson
Kia Minkkinen
Leopoldo Zelante
Massimo Carella
Paolo Gasparini
Robert F Mueller
P2860
P2888
P356
10.1038/SJ.EJHG.5201250
P577
2005-01-01T00:00:00Z
P5875
P6179
1039829301