Whole mitochondrial genome screening in two families with hearing loss: detection of a novel mutation in the 12S rRNA gene.

scientific article

Whole mitochondrial genome screening in two families with hearing loss: detection of a novel mutation in the 12S rRNA gene. is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1042/BSR20090120
P698PubMed publication ID20055758

P50authorAbdelaziz TliliQ58878867
Faiza FakhfakhQ96335881
P2093author name stringSaber Masmoudi
Emna Mkaouar-Rebai
Nacim Louhichi
Chahnez Triki
Nourhene Fendri-Kriaa
Abdelmoneem Ghorbel
P2860cites workAutomating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genomeQ24546324
Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroupsQ24563892
Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNAQ27860870
Secondary structure and patterns of evolution among mammalian mitochondrial 12S rRNA moleculesQ28289163
Mitochondrial respiratory-chain diseasesQ29614474
Genetic analysis of interactions with eukaryotic rRNA identify the mitoribosome as target in aminoglycoside ototoxicityQ30488706
Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese familyQ30499211
Advances in hereditary deafnessQ30665416
Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosidesQ34384272
A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypesQ34742495
Mitochondrial deafnessQ35201415
Pathogenic mitochondrial DNA mutations are common in the general populationQ36808847
Mitochondrial mutation associated with nonsyndromic deafnessQ40952071
A reappraisal of complete mtDNA variation in East Asian families with hearing impairmentQ42491866
Maternally inherited cardiomyopathy: an atypical presentation of the mtDNA 12S rRNA gene A1555G mutationQ43218209
Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairmentQ43784130
Evidence for adaptive selection acting on the tRNA and rRNA genes of human mitochondrial DNA.Q44452930
Mitochondrial ribosomal RNA mutation associated with both antibiotic–induced and non–syndromic deafnessQ46157086
Clinical and molecular analysis of a four-generation Chinese family with aminoglycoside-induced and nonsyndromic hearing loss associated with the mitochondrial 12S rRNA C1494T mutationQ46869739
Typing of mitochondrial DNA coding region SNPs of forensic and anthropological interest using SNaPshot minisequencingQ47348911
Co-occurrence of A1555G and G11778A in a Chinese family with high penetrance of Leber's hereditary optic neuropathy.Q50450035
Mitochondrial syndromic sensorineural hearing loss.Q50457620
Extremely low penetrance of hearing loss in four Chinese families with the mitochondrial 12S rRNA A1555G mutation.Q50474850
Maternally inherited deafness associated with a T1095C mutation in the mDNA.Q50492157
Genetic and clinical features of sensorineural hearing loss associated with the 1555 mitochondrial mutation.Q50509866
P433issue6
P921main subjecthearing lossQ16035842
P304page(s)405-411
P577publication date2010-12-01
P1433published inBioscience ReportsQ2790714
P1476titleWhole mitochondrial genome screening in two families with hearing loss: detection of a novel mutation in the 12S rRNA gene
P478volume30

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cites work (P2860)
Q35910650Molecular investigation of pediatric portuguese patients with sensorineural hearing loss.
Q38072715Screening of mitochondrial mutations in Tunisian patients with mitochondrial disorders: an overview study

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