| 1 |
The prevalence of mitochondrial mutations associated with aminoglycoside-induced deafness in ethnic Latvian population: the appraisal of the evidence. ( 30523288
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Igumnova V...Ranka R
|
2019 |
| 2 |
Biochemical Evidence for a Nuclear Modifier Allele (A10S) in TRMU (Methylaminomethyl-2-thiouridylate-methyltransferase) Related to Mitochondrial tRNA Modification in the Phenotypic Manifestation of Deafness-associated 12S rRNA Mutation. ( 28049726
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|
Meng F...Guan MX
|
2017 |
| 3 |
American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. ( 24651602
)
|
Alford RL...Professional Practice and Guidelines Committee
|
2014 |
| 4 |
A rapid method for detection of five known mutations associated with aminoglycoside-induced deafness. ( 19144107
)
|
Bardien S...de Jong G
|
2009 |
| 5 |
Co-segregation of the T1095C with the A1555G mutation of the mitochondrial 12S rRNA gene in a patient with non-syndromic hearing loss. ( 18983818
)
|
Dai D...Xing G
|
2008 |
| 6 |
A mutation in mitochondrial 12S rRNA, A827G, in Argentinean family with hearing loss after aminoglycoside treatment. ( 18261986
)
|
Chaig MR...Gerez NM
|
2008 |
| 7 |
Mitochondrial tRNASer(UCN) gene is the hot spot for mutations associated with aminoglycoside-induced and non-syndromic hearing loss. ( 17659260
)
|
Jin L...Guan MX
|
2007 |
| 8 |
Very low penetrance of hearing loss in seven Han Chinese pedigrees carrying the deafness-associated 12S rRNA A1555G mutation. ( 17341440
)
|
Tang X...Guan MX
|
2007 |
| 9 |
Clinical and molecular analysis of a four-generation Chinese family with aminoglycoside-induced and nonsyndromic hearing loss associated with the mitochondrial 12S rRNA C1494T mutation. ( 16380089
)
|
Wang Q...Guan MX
|
2006 |
| 10 |
Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations. ( 16826519
)
|
Guan MX...Fischel-Ghodsian N
|
2006 |
| 11 |
Maternally inherited non-syndromic hearing loss associated with mitochondrial 12S rRNA A827G mutation in a Chinese family. ( 16650816
)
|
Xing G...Cao X
|
2006 |
| 12 |
Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment. ( 16458854
)
|
Ballana E...Estivill X
|
2006 |
| 13 |
A reappraisal of complete mtDNA variation in East Asian families with hearing impairment. ( 16528519
)
|
Yao YG...Bandelt HJ
|
2006 |
| 14 |
Mitochondrial 12S rRNA A827G mutation is involved in the genetic susceptibility to aminoglycoside ototoxicity. ( 16782057
)
|
Xing G...Cao X
|
2006 |
| 15 |
Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA mutation in 16 Chinese families: implication for early detection and prevention of deafness. ( 16375862
)
|
Dai P...Guan MX
|
2006 |
| 16 |
Cochlear alterations in deaf and unaffected subjects carrying the deafness-associated A1555G mutation in the mitochondrial 12S rRNA gene. ( 16631122
)
|
Bravo O...Estivill X
|
2006 |
| 17 |
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. ( 16152638
)
|
Yuan H...Guan MX
|
2005 |
| 18 |
Clinical and molecular characterization of a Chinese patient with auditory neuropathy associated with mitochondrial 12S rRNA T1095C mutation. ( 15637703
)
|
Wang Q...Guan MX
|
2005 |
| 19 |
Extremely low penetrance of hearing loss in four Chinese families with the mitochondrial 12S rRNA A1555G mutation. ( 15708009
)
|
Young WY...Guan MX
|
2005 |
| 20 |
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. ( 14681830
)
|
Zhao H...Guan MX
|
2004 |
| 21 |
Audiovestibular findings in patients with mitochondrial A1555G mutation. ( 14755216
)
|
Noguchi Y...Kitamura K
|
2004 |
| 22 |
Clinical evaluation and sequence analysis of the complete mitochondrial genome of three Chinese patients with hearing impairment associated with the 12S rRNA T1095C mutation. ( 15555598
)
|
Zhao L...Guan MX
|
2004 |
| 23 |
Lack of a modulative factor in locus 8p23 in a Finnish family with nonsyndromic sensorineural hearing loss associated with the 1555A>G mitochondrial DNA mutation. ( 12939650
)
|
Finnil? S...Majamaa K
|
2003 |
| 24 |
Frequency of mtDNA A1555G and A7445G mutations among children with prelingual deafness in Turkey. ( 12655418
)
|
Tekin M...Akar N
|
2003 |
| 25 |
Prevalence of the mitochondrial DNA A1555G mutation in sensorineural deafness patients in island Southeast Asia. ( 12955586
)
|
Malik SG...Marzuki S
|
2003 |
| 26 |
Nonsyndromic sensorineural deafness associated with the A1555G mutation in the mitochondrial small subunit ribosomal RNA in a Balinese family. ( 12624722
)
|
Malik S...Marzuki S
|
2003 |
| 27 |
Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss. ( 12920080
)
|
del Castillo FJ...del Castillo I
|
2003 |
| 28 |
The A1555G mtDNA mutation in Danish hearing-impaired patients: frequency and clinical signs. ( 12372057
)
|
?Stergaard E...Br?ndum-Nielsen K
|
2002 |
| 29 |
Maternally inherited deafness associated with a T1095C mutation in the mDNA. ( 11313749
)
|
Tessa A...Santorelli FM
|
2001 |
| 30 |
Modifier locus for mitochondrial DNA disease: linkage and linkage disequilibrium mapping of a nuclear modifier gene for maternally inherited deafness. ( 11388757
)
|
Bykhovskaya Y...Fischel-Ghodsian N
|
2001 |
| 31 |
Myelocystocele-cloacal exstrophy in a pedigree with a mitochondrial 12S rRNA mutation, aminoglycoside-induced deafness, pigmentary disturbances, and spinal anomalies. ( 10661905
)
|
Nye JS...Pandya A
|
2000 |
| 32 |
Candidate locus for a nuclear modifier gene for maternally inherited deafness. ( 10788333
)
|
Bykhovskaya Y...Fischel-Ghodsian N
|
2000 |
| 33 |
A novel mitochondrial 12SrRNA point mutation in parkinsonism, deafness, and neuropathy. ( 11079536
)
|
Thyagarajan D...DiMauro S
|
2000 |
| 34 |
A biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity. ( 10915767
)
|
Guan MX...Attardi G
|
2000 |
| 35 |
Inherited susceptibility to aminoglycoside ototoxicity: genetic heterogeneity and clinical implications. ( 10326749
)
|
Casano RA...Fischel-Ghodsian N
|
1999 |
| 36 |
Heterogenous point mutations in the mitochondrial tRNA Ser(UCN) precursor coexisting with the A1555G mutation in deaf students from Mongolia. ( 10577941
)
|
Pandya A...Nance WE
|
1999 |
| 37 |
Mitochondrial deafness mutations reviewed. ( 10220138
)
|
Fischel-Ghodsian N
|
1999 |
| 38 |
Maternally inherited cardiomyopathy: an atypical presentation of the mtDNA 12S rRNA gene A1555G mutation. ( 9915970
)
|
Santorelli FM...Hirano M
|
1999 |
| 39 |
The A1555G mutation in the 12S rRNA gene of human mtDNA: recurrent origins and founder events in families affected by sensorineural deafness. ( 10521300
)
|
Torroni A...Scozzari R
|
1999 |
| 40 |
Phylogenetic analysis of mitochondrial DNA in Japanese pedigrees of sensorineural hearing loss associated with the A1555G mutation. ( 9887373
)
|
Abe S...Kimberling WJ
|
1998 |
| 41 |
Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides. ( 9490575
)
|
Estivill X...Torroni A
|
1998 |
| 42 |
Hearing loss due to the mitochondrial A1555G mutation in Italian families. ( 9779807
)
|
Casano RA...Fischel-Ghodsian N
|
1998 |
| 43 |
Mutation in the mitochondrial 12S rRNA gene in two families from Mongolia with matrilineal aminoglycoside ototoxicity. ( 9039999
)
|
Pandya A...Nance WE
|
1997 |
| 44 |
Familial streptomycin ototoxicity in a South African family: a mitochondrial disorder. ( 9391883
)
|
Gardner JC...Beighton P
|
1997 |
| 45 |
Biochemical evidence for nuclear gene involvement in phenotype of non-syndromic deafness associated with mitochondrial 12S rRNA mutation. ( 8817331
)
|
Guan MX...Attardi G
|
1996 |
| 46 |
Susceptibility mutations in the mitochondrial small ribosomal RNA gene in aminoglycoside induced deafness. ( 7550368
)
|
Bacino C...Fischel-Ghodsian N
|
1995 |
| 47 |
Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. ( 7689389
)
|
Prezant TR...Rotter JI
|
1993 |
