총 291건 중 291건 출력
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141
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Unique penetrance of hearing loss in a five-generation Chinese family with the mitochondrial 12S rRNA 1555A > G mutation
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Men, Meichao;
Jiang, Lu;
Wang, Honghan;
Liu, Yalan;
Hu, Zhengmao;
He, Chufeng;
Feng, Yong;
Department of Otolaryngology, Head and Neck Surgery, Xiangya Hospital, Central South University, Changsha City, Hunan Province;
Department of Otolaryngology, Head and Neck Surgery, Xiangya Hospital, Central South University, Changsha City, Hunan Province;
Department of Otolaryngology, Head and Neck Surgery, Xiangya Hospital, Central South University, Changsha City, Hunan Province;
State Key Laboratory of Medical Genetics of China, Central South University, Changsha City, Hunan Province, China;
State Key Laboratory of Medical Genetics of China, Central South University, Changsha City, Hunan Province, China;
Department of Otolaryngology, Head and Neck Surgery, Xiangya Hospital, Central South University, Changsha City, Hunan Province;
Department of Otolaryngology, Head and Neck Surgery, Xiangya Hospital, Central South University, Changsha City, Hunan Province;
(Acta oto-laryngologica,
v.131,
2011,
pp.970-975)
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142
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Mitochondrial DNA A1555G mutation screening using a testing kit method and its significance in preventing aminoglycoside-related hearing loss
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Xin, L.;
Pu, D.;
Deliang, H.;
Huijun, Y.;
Weiming, L.;
Fei, Y.;
Xin, Z.;
Dongyang, K.;
Juyang, C.;
Weiyan, Y.;
Dongyi, H.;
Zhengce, J.;
Minxin, G.;
;
(Journal of Otology = 耳科學雜誌(英文版),
v.1,
2006,
pp.61-64)
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143
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A maternally inherited diabetes and deafness patient with the 12S rRNA m.1555A>G and the ND1 m.3308T>C mutations associated with multiple mitochondrial deletions
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Mezghani, N.;
Mnif, M.;
Mkaouar-Rebai, E.;
Kallel, N.;
Charfi, N.;
Abid, M.;
Fakhfakh, F.;
;
(Biochemical and biophysical research communications,
v.431,
2013,
pp.670-674)
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144
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[PCR-GeneScan technique for detection of the GJB2 235 delC and mtDNA A1555G mutations for hereditary hearing loss].
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Li, Qi;
Fang, Ruping;
Wang, Guojian;
Dai, Pu;
;
(臨床耳鼻咽喉頭頸外科雜誌 = Journal of clinical otorhinolaryngology, head, and neck surgery,
v.26,
2012,
pp.585-588)
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145
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Human mitochondrial transcription factor B1 as a modifier gene for hearing loss associated with the mitochondrial A1555G mutation
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Bykhovskaya, Yelena;
Mengesha, Emebet;
Wang, Dai;
Yang, Huiying;
Estivill, Xavier;
Shohat, Mordechai;
Fischel-Ghodsian, Nathan;
;
(Molecular genetics and metabolism,
v.82,
2004,
pp.27-32)
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146
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Mitochondrial haplogroup B increases the risk for hearing loss among the Eastern Asian pedigrees carrying 12S rRNA 1555A>G mutation
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Ying, Zhengbiao;
Zheng, Jing;
Cai, Zhaoyang;
Liu, Li;
Dai, Yu;
Yao, Juan;
Wang, Hui;
Gao, Yinglong;
Zheng, Binjiao;
Tang, Xiaowen;
Zhu, Yi;
Guan, Min-Xin;
Chen, Ye;
Department of Otolaryngology, Wenling People’s Hospital, Wenzhou Medical University, Wenling, 317500 China;
Institute of Genetics, School of Medicine, Zhejiang University, Hangzhou, 310058 China;
Department of Otolaryngology, Wenling People’s Hospital, Wenzhou Medical University, Wenling, 317500 China;
Institute of Genetics, School of Medicine, Zhejiang University, Hangzhou, 310058 China;
Department of Clinical Laboratory, The Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, 310009 China;
Attardi Institute of Mitochondrial Biomedicine, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, 325035 China;
Attardi Institute of Mitochondrial Biomedicine, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, 325035 China;
Attardi Institute of Mitochondrial Biomedicine, School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, 325035 China;
Attardi Institute of;
(Protein & cell,
v.6,
2015,
pp.844-848)
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147
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Cochlear alterations in deaf and unaffected subjects carrying the deafness-associated A1555G mutation in the mitochondrial 12S rRNA gene
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Bravo, Olga;
Ballana, Ester;
Estivill, Xavier;
Otolaryngology Department, Ciutat Sanità
ria i Università
ria de Bellvitge, L’Hospitalet de Llobregat, Catalonia, Spain;
Genes and Disease Program, Centre for Genomic Regulation (CRG), Pompeu Fabra University, Barcelona Biomedical Research Park, Barcelona, Catalonia, Spain;
Genes and Disease Program, Centre for Genomic Regulation (CRG), Pompeu Fabra University, Barcelona Biomedical Research Park, Barcelona, Catalonia, Spain;
(Biochemical and biophysical research communications,
v.344,
2006,
pp.511-516)
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148
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[Epidemiological studies on mtDNA 12S rRNA A1555G mutation of 10 non syndromic hearing loss families in Yunnan province].
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Ma, Tao;
Xue, Xijun;
Dai, Pu;
Cao, Xianbao;
Chi, Jun;
Deng, Jiahong;
Pang, Kang;
Liu, Weimin;
;
(臨床耳鼻咽喉頭頸外科雜誌 = Journal of clinical otorhinolaryngology, head, and neck surgery,
v.26,
2012,
pp.581-585)
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149
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Molecular and Clinical Characterization of the Variable Phenotype in Korean Families with Hearing Loss Associated with the Mitochondrial A1555G Mutation
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Bae, Jae Woong;
Kim, Dong-Bin;
Choi, Jae Young;
Park, Hong-Joon;
Lee, Jong Dae;
Hur, Dong Gu;
Bae, Seung-Hyun;
Jung, Da Jung;
Lee, Sang Heun;
Kim, Un-Kyung;
Lee, Kyu Yup;
Department of Biology, College of Natural Sciences, Kyungpook National University, Daegu, South Korea;
Department of Biology, College of Natural Sciences, Kyungpook National University, Daegu, South Korea;
Department of Otorhinolaryngology, Yonsei University College of Medicine, Seoul, South Korea;
Soree Ear Clinic, Seoul, South Korea;
Department of Otorhinolaryngology-Head and Neck Surgery, Soonchunhyang University College of Medicine, Bucheon, South Korea;
Department of Otorhinolaryngology-Head and Neck Surgery, Gyeongsang National University Hospital, Jinju, South Korea;
Department of Biology, College of Natural Sciences, Kyungpook National University, Daegu, South Korea;
Department of Otolaryngology, College of Medicine, Kyungpook National University, Daegu, South Korea;
Department of Otolaryngology, College of Medicine, Kyungpook National University, Daegu, South Korea;
Department of Biology, College of Natural Sciences, Kyungpook National University, Daegu, South Korea;
(PloS one,
v.7,
2012,
pp.e42463)
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150
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Discrimination of A1555G and C1494T Point Mutations in the Mitochondrial 12S rRNA Gene by On/Off Switch
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Guo, Zi-Fen;
Guo, Wu-Shuang;
Xiao, Li;
Gao, Guo-Qiang;
Lan, Fen;
Lu, Xue-Guan;
Li, Kai;
Liao, Duan-Fang;
;
(Applied biochemistry and biotechnology,
v.166,
2012,
pp.234-242)