1 |
Maternally transmitted late-onset non-syndromic deafness is associated with the novel heteroplasmic T12201C mutation in the mitochondrial tRNAHis gene.
57
5
|
Yan X...Guan MX
|
21931169 |
2011 |
2 |
A mutation in mitochondrial 12S rRNA, A827G, in Argentinean family with hearing loss after aminoglycoside treatment.
57
5
|
Chaig MR...Gerez NM
|
18261986 |
2008 |
3 |
Very low penetrance of hearing loss in seven Han Chinese pedigrees carrying the deafness-associated 12S rRNA A1555G mutation.
57
5
|
Tang X...Guan MX
|
17341440 |
2007 |
4 |
Cochlear alterations in deaf and unaffected subjects carrying the deafness-associated A1555G mutation in the mitochondrial 12S rRNA gene.
57
5
|
Bravo O...Estivill X
|
16631122 |
2006 |
5 |
Maternally inherited non-syndromic hearing loss associated with mitochondrial 12S rRNA A827G mutation in a Chinese family.
57
5
|
Xing G...Cao X
|
16650816 |
2006 |
6 |
Audiovestibular findings in patients with mitochondrial A1555G mutation.
57
5
|
Noguchi Y...Kitamura K
|
14755216 |
2004 |
7 |
Maternally inherited hearing impairment in a family with the mitochondrial DNA A7445G mutation.
57
5
|
Hutchin TP...Mueller RF
|
11175301 |
2001 |
8 |
Heterogenous point mutations in the mitochondrial tRNA Ser(UCN) precursor coexisting with the A1555G mutation in deaf students from Mongolia.
57
5
|
Pandya A...Nance WE
|
10577941 |
1999 |
9 |
Maternally inherited nonsyndromic hearing loss.
57
5
|
Friedman RA...Fischel-Ghodsian N
|
10340654 |
1999 |
10 |
Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene.
57
5
|
Sue CM...Friedman R
|
10371545 |
1999 |
11 |
A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness.
57
5
|
Reid FM...Jacobs HT
|
8019558 |
1994 |
12 |
Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness.
57
5
|
Prezant TR...Rotter JI
|
7689389 |
1993 |
13 |
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.
5
|
Meng F...Guan MX
|
28049726 |
2017 |
14 |
Novel mitochondrial DNA mutations responsible for maternally inherited nonsyndromic hearing loss.
5
|
Gutierrez Cortes N...Rocher C
|
22241583 |
2012 |
15 |
Maternally inherited hearing loss is associated with the novel mitochondrial tRNA Ser(UCN) 7505T>C mutation in a Han Chinese family.
5
|
Tang X...Guan MX
|
20153673 |
2010 |
16 |
Co-segregation of the T1095C with the A1555G mutation of the mitochondrial 12S rRNA gene in a patient with non-syndromic hearing loss.
5
|
Dai D...Xing G
|
18983818 |
2008 |
17 |
Mutation analysis of mitochondrial DNA 12SrRNA and tRNASer(UCN) genes in non-syndromic hearing loss patients.
5
|
Konings A...Van Laer L
|
18790089 |
2008 |
18 |
Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip.
5
|
Leveque M...Denoyelle F
|
17637808 |
2007 |
19 |
Mitochondrial tRNASer(UCN) gene is the hot spot for mutations associated with aminoglycoside-induced and non-syndromic hearing loss.
5
|
Jin L...Guan MX
|
17659260 |
2007 |
20 |
Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations.
5
|
Guan MX...Fischel-Ghodsian N
|
16826519 |
2006 |
21 |
Mitochondrial 12S rRNA A827G mutation is involved in the genetic susceptibility to aminoglycoside ototoxicity.
5
|
Xing G...Cao X
|
16782057 |
2006 |
22 |
A reappraisal of complete mtDNA variation in East Asian families with hearing impairment.
5
|
Yao YG...Bandelt HJ
|
16528519 |
2006 |
23 |
Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment.
5
|
Ballana E...Estivill X
|
16458854 |
2006 |
24 |
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.
5
|
Wang Q...Guan MX
|
16380089 |
2006 |
25 |
Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA mutation in 16 Chinese families: implication for early detection and prevention of deafness.
5
|
Dai P...Guan MX
|
16375862 |
2006 |
26 |
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.
5
|
Yuan H...Guan MX
|
16152638 |
2005 |
27 |
Extremely low penetrance of hearing loss in four Chinese families with the mitochondrial 12S rRNA A1555G mutation.
5
|
Young WY...Guan MX
|
15708009 |
2005 |
28 |
Clinical and molecular characterization of a Chinese patient with auditory neuropathy associated with mitochondrial 12S rRNA T1095C mutation.
5
|
Wang Q...Guan MX
|
15637703 |
2005 |
29 |
Clinical evaluation and sequence analysis of the complete mitochondrial genome of three Chinese patients with hearing impairment associated with the 12S rRNA T1095C mutation.
5
|
Zhao L...Guan MX
|
15555598 |
2004 |
30 |
Molecular analysis of the mitochondrial 12S rRNA and tRNASer(UCN) genes in paediatric subjects with non-syndromic hearing loss.
5
|
Li R...Guan MX
|
15286157 |
2004 |
31 |
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.
5
|
Zhao H...Guan MX
|
14681830 |
2004 |
32 |
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.
5
|
Finnila S...Majamaa K
|
12939650 |
2003 |
33 |
Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss.
5
|
del Castillo FJ...del Castillo I
|
12920080 |
2003 |
34 |
Frequency of mtDNA A1555G and A7445G mutations among children with prelingual deafness in Turkey.
5
|
Tekin M...Akar N
|
12655418 |
2003 |
35 |
Nonsyndromic sensorineural deafness associated with the A1555G mutation in the mitochondrial small subunit ribosomal RNA in a Balinese family.
5
|
Malik S...Marzuki S
|
12624722 |
2003 |
36 |
Prevalence of the mitochondrial DNA A1555G mutation in sensorineural deafness patients in island Southeast Asia.
5
|
Malik SG...Marzuki S
|
12955586 |
2003 |
37 |
Two large French pedigrees with non syndromic sensorineural deafness and the mitochondrial DNA T7511C mutation: evidence for a modulatory factor.
5
|
Chapiro E...Marlin S
|
12461693 |
2002 |
38 |
The A1555G mtDNA mutation in Danish hearing-impaired patients: frequency and clinical signs.
5
|
OStergaard E...Brondum-Nielsen K
|
12372057 |
2002 |
39 |
Multiple origins of the mtDNA 7472insC mutation associated with hearing loss and neurological dysfunction.
5
|
Hutchin TP...Mueller RF
|
11378827 |
2001 |
40 |
Modifier locus for mitochondrial DNA disease: linkage and linkage disequilibrium mapping of a nuclear modifier gene for maternally inherited deafness.
5
|
Bykhovskaya Y...Fischel-Ghodsian N
|
11388757 |
2001 |
41 |
Maternally inherited deafness associated with a T1095C mutation in the mDNA.
5
|
Tessa A...Santorelli FM
|
11313749 |
2001 |
42 |
A novel mitochondrial 12SrRNA point mutation in parkinsonism, deafness, and neuropathy.
5
|
Thyagarajan D...DiMauro S
|
11079536 |
2000 |
43 |
Inherited palmoplantar keratoderma and sensorineural deafness associated with A7445G point mutation in the mitochondrial genome.
5
|
Martin L...Vaillant L
|
11069477 |
2000 |
44 |
A novel mutation in the mitochondrial tRNA(Ser(UCN)) gene in a family with non-syndromic sensorineural hearing impairment.
5
|
Hutchin TP...Mueller RF
|
10978361 |
2000 |
45 |
A biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity.
5
|
Guan MX...Attardi G
|
10915767 |
2000 |
46 |
Candidate locus for a nuclear modifier gene for maternally inherited deafness.
5
|
Bykhovskaya Y...Fischel-Ghodsian N
|
10788333 |
2000 |
47 |
Molecular phenotype of the np 7472 deafness-associated mitochondrial mutation in osteosarcoma cell cybrids.
5
|
Toompuu M...Jacobs HT
|
10545608 |
1999 |
48 |
The A1555G mutation in the 12S rRNA gene of human mtDNA: recurrent origins and founder events in families affected by sensorineural deafness.
5
|
Torroni A...Scozzari R
|
10521300 |
1999 |
49 |
Maternally inherited cardiomyopathy: an atypical presentation of the mtDNA 12S rRNA gene A1555G mutation.
5
|
Santorelli FM...Hirano M
|
9915970 |
1999 |
50 |
Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNASer(UCN) gene.
5
|
Verhoeven K...Van Camp G
|
10094190 |
1999 |