Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss.
about
Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutationsFunctional characterization of the mitochondrial 12S rRNA C1494T mutation associated with aminoglycoside-induced and non-syndromic hearing lossA study of deafness-related genetic mutations as a basis for strategies to prevent hereditary hearing loss in Hebei, China.A six-generation Chinese family in haplogroup B4C1C exhibits high penetrance of 1555A > G-induced hearing LossMolecular and clinical characterisation of three Spanish families with maternally inherited non-syndromic hearing loss caused by the 1494C->T mutation in the mitochondrial 12S rRNA gene.Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China.Molecular and clinical characterization of the variable phenotype in Korean families with hearing loss associated with the mitochondrial A1555G mutation.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.Systematic analysis of mitochondrial genes associated with hearing loss in the Japanese population: dHPLC reveals a new candidate mutationMaternal age effect and severe germ-line bottleneck in the inheritance of human mitochondrial DNA.Absence of GJB2 gene mutations, the GJB6 deletion (GJB6-D13S1830) and four common mitochondrial mutations in nonsyndromic genetic hearing loss in a South African population.Analysis of the heteroplasmy level and transmitted features in hearing-loss pedigrees with mitochondrial 12S rRNA A1555G mutation.Audio profiles in mitochondrial deafness m.1555A>G and m.3243A>G show distinct differences.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?Maternally inherited aminoglycoside-induced and nonsyndromic hearing loss is associated with the 12S rRNA C1494T mutation in three Han Chinese pedigrees.Mitochondrial mutations in maternally inherited hearing loss.Mitochondrial rRNA and tRNA and hearing function.Genetic mutations of GJB2 and mitochondrial 12S rRNA in nonsyndromic hearing loss in Jiangsu Province of China.The responsible genes in Japanese deafness patients and clinical application using Invader assay.The ND4 G11696A mutation may influence the phenotypic manifestation of the deafness-associated 12S rRNA A1555G mutation in a four-generation Chinese family.Association between idiopathic hearing loss and mitochondrial DNA mutations: a study on 169 hearing-impaired subjects.Mitochondrial haplotypes may modulate the phenotypic manifestation of the deafness-associated 12S rRNA 1555A>G mutation.Preimplantation genetic diagnosis: its role in prevention of deafness.Are GJB2 mutations an aggravating factor in the phenotypic expression of mitochondrial non-syndromic deafness?Screening of mitochondrial mutations in Tunisian patients with mitochondrial disorders: an overview study.Inherited hearing loss: molecular genetics and diagnostic testing.Genetic Epidemiology of Mitochondrial Pathogenic Variants Causing Nonsyndromic Hearing Loss in a Large Cohort of South Indian Hearing Impaired Individuals.The 9-bp deletion in region V of mtDNA: a risk factor of hearing loss and encephalomyopathy in Caucasian populations?PharmGKB summary: very important pharmacogene information for MT-RNR1.Contribution of the tRNAIle 4317A>G mutation to the phenotypic manifestation of the deafness-associated mitochondrial 12S rRNA 1555A>G mutation.A non-syndromic hearing loss caused by very low levels of the mtDNA A3243G mutation.Association between phenotype, performance with hearing aids, and genotype of childhood hearing loss in children with and without genetic alteration.Molecular bases of hearing loss in multi-systemic mitochondrial cytopathy.The Mitochondrial COI/tRNASER(UCN) G7444A Mutation may be Associated with Hearing Impairment in a Han Chinese Family.Large scale newborn deafness genetic screening of 142,417 neonates in Wuhan, China.Mitochondrial DNA mutations associated with aminoglycoside induced ototoxicity.Clinical and molecular characterization of a Chinese patient with auditory neuropathy associated with mitochondrial 12S rRNA T1095C mutation.
P2860
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P2860
Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss.
description
2003 nî lūn-bûn
@nan
2003 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Heteroplasmy for the 1555A>G m ...... th non-syndromic hearing loss.
@ast
Heteroplasmy for the 1555A>G m ...... th non-syndromic hearing loss.
@en
type
label
Heteroplasmy for the 1555A>G m ...... th non-syndromic hearing loss.
@ast
Heteroplasmy for the 1555A>G m ...... th non-syndromic hearing loss.
@en
prefLabel
Heteroplasmy for the 1555A>G m ...... th non-syndromic hearing loss.
@ast
Heteroplasmy for the 1555A>G m ...... th non-syndromic hearing loss.
@en
P2093
P356
P1476
Heteroplasmy for the 1555A>G m ...... ith non-syndromic hearing loss
@en
P2093
A Martínez-Conde
B Arellano
F J del Castillo
I del Castillo
J Gallo-Terán
J Solanellas
M A Moreno-Pelayo
M Cruz Tapia
M Rodríguez-Ballesteros
P304
P356
10.1136/JMG.40.8.632
P407
P577
2003-08-01T00:00:00Z