Pages that link to "Q35435710"

The following pages link to A novel mutation in the mitochondrial tRNA(Ser(UCN)) gene in a family with non-syndromic sensorineural hearing impairment (Q35435710):

Displaying 34 items.

• Functional characterization of the mitochondrial 12S rRNA C1494T mutation associated with aminoglycoside-induced and non-syndromic hearing loss (Q24791654) (← links)
• Frequency of mitochondrial mutations in non-syndromic hearing loss as well as possibly responsible variants found by whole mitochondrial genome screening (Q28660527) (← links)
• Non-syndromic Hearing Impairment in a Hungarian Family with the m.7510T>C Mutation of Mitochondrial tRNA(Ser(UCN)) and Review of Published Cases (Q30458147) (← links)
• Modifiers of hearing impairment in humans and mice (Q30478361) (← links)
• Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family (Q30499211) (← links)
• MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene (Q33312080) (← links)
• Systematic analysis of mitochondrial genes associated with hearing loss in the Japanese population: dHPLC reveals a new candidate mutation (Q34046457) (← links)
• Disorders of mitochondrial protein synthesis (Q35203201) (← links)
• Prevalence of mitochondrial DNA mutations in childhood/congenital onset non-syndromal sensorineural hearing impairment (Q35437142) (← links)
• Mitochondrial rRNA and tRNA and hearing function (Q36697530) (← links)
• Biochemical characterization of the mitochondrial tRNASer(UCN) T7511C mutation associated with nonsyndromic deafness (Q37071065) (← links)
• Screening of mitochondrial mutations in Tunisian patients with mitochondrial disorders: an overview study (Q38072715) (← links)
• The role of mitochondrial DNA mutations in hearing loss (Q38100717) (← links)
• Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents. (Q40681828) (← links)
• Audiological and genetic features of the mtDNA mutations (Q41908652) (← links)
• A proposed consensus panel of organisms for determining evolutionary conservation of mt-tRNA point mutations. (Q42008013) (← links)
• Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment (Q43784130) (← links)
• The 9-bp deletion in region V of mtDNA: a risk factor of hearing loss and encephalomyopathy in Caucasian populations? (Q43811835) (← links)
• The 7472insC mitochondrial DNA mutation impairs the synthesis and extent of aminoacylation of tRNASer(UCN) but not its structure or rate of turnover (Q43937103) (← links)
• Pathogenesis of the deafness-associated A1555G mitochondrial DNA mutation. (Q44020891) (← links)
• A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: are two mutations better than one? (Q44842993) (← links)
• The m.7510T>C mutation: Hearing impairment and a complex neurologic phenotype. (Q47161567) (← links)
• Fatal neonatal lactic acidosis caused by a novel de novo mitochondrial G7453A tRNA-Serine ((UCN)) mutation (Q47976366) (← links)
• Exercise intolerance, muscle pain and lactic acidaemia associated with a 7497G>A mutation in the tRNASer(UCN) gene (Q48151064) (← links)
• The contribution of the mitochondrial COI/tRNA(Ser(UCN)) gene mutations to non-syndromic and aminoglycoside-induced hearing loss in Polish patients (Q50433773) (← links)
• Homoplasmy of the G7444A mtDNA and heterozygosity of the GJB2 c.35delG mutations in a family with hearing loss (Q50435891) (← links)
• The search of a genetic basis for noise-induced hearing loss (NIHL). (Q50436734) (← links)
• Isolated hearing loss associated with T7511C mutation in mitochondrial DNA. (Q50452310) (← links)
• Prevalence of the A1555G (12S rRNA) and tRNASer(UCN) mitochondrial mutations in hearing-impaired Brazilian patients (Q50467317) (← links)
• Mitochondrial hearing impairment. Background, genetic predisposition and possibilities for diagnosis (Q50479129) (← links)
• Two large French pedigrees with non syndromic sensorineural deafness and the mitochondrial DNA T7511C mutation: evidence for a modulatory factor (Q50485453) (← links)
• Cosegregation of the G7444A mutation in the mitochondrial COI/tRNA(Ser(UCN)) genes with the 12S rRNA A1555G mutation in a Chinese family with aminoglycoside-induced and nonsyndromic hearing loss (Q81191060) (← links)
• Mitochondrial encephalomyopathies (Q82029875) (← links)
• Ancient mitochondrial DNA pathogenic variants putatively associated with mitochondrial disease (Q99707453) (← links)