검색어 : 통합검색[G1555]
총 291건 중 291건 출력
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151
- A six-generation Chinese family in haplogroup B4C1C exhibits high penetrance of 1555A > G-induced hearing Loss
- Bai, Yan; Wang, Zhengmin; Dai, Wenjia; Li, Qingzhong; Chen, Guoling; Cong, Ning; Guan, Minxin; Li, Huawei; Department of Otolaryngology, Eye & ENT Hospital, Fudan University, 83 Fenyang Road, Shanghai, 200031, China; Department of Otolaryngology, Eye & ENT Hospital, Fudan University, 83 Fenyang Road, Shanghai, 200031, China; Department of Otolaryngology, Eye & ENT Hospital, Fudan University, 83 Fenyang Road, Shanghai, 200031, China; Department of Otolaryngology, Eye & ENT Hospital, Fudan University, 83 Fenyang Road, Shanghai, 200031, China; Department of Otolaryngology, Eye & ENT Hospital, Fudan University, 83 Fenyang Road, Shanghai, 200031, China; Department of Otolaryngology, Eye & ENT Hospital, Fudan University, 83 Fenyang Road, Shanghai, 200031, China; Department of Otolaryngology, the First Affiliated Hospital, Wenzhou Medical College, Wenzhou, Zhejiang, China; Department of Otolaryngology, Eye & ENT Hospital, Fudan University, 83 Fenyang Road, Shanghai, 200031, China; (BMC medical genetics, v.11, 2010, pp.129-129)
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152
- Heterogenous Point Mutations in the Mitochondrial tRNA Ser(UCN) Precursor Coexisting with the A1555G Mutation in Deaf Students from Mongolia
- Pandya, Arti; Xia, Xia-Juan; Erdenetungalag, Raadnabazar; Amendola, Michael; Landa, Barbara; Radnaabazar, Janchiv; Dangaasuren, Begzsuren; Van Tuyle, Glenn; Nance, Walter E.; Department of Human Genetics, Medical College of Virginia Campus of Virginia Commonwealth University, Richmond, VA; Department of Human Genetics, Medical College of Virginia Campus of Virginia Commonwealth University, Richmond, VA; Department of Human Genetics, Maternal and Child Health Research Center, Ulaanbaatar, Mongolia; Department of Human Genetics, Medical College of Virginia Campus of Virginia Commonwealth University, Richmond, VA; Department of Human Genetics, Medical College of Virginia Campus of Virginia Commonwealth University, Richmond, VA; Department of Human Genetics, Maternal and Child Health Research Center, Ulaanbaatar, Mongolia; Department of Human Genetics, Maternal and Child Health Research Center, Ulaanbaatar, Mongolia; Department of Biochemistry and Molecular Biophysics, Medical College of Virginia Campus of Virginia Commonwealth University, Richmond, VA; Department of Human Genetics, Medical College of Virginia Campus of Virginia Commonwealth University,; (American journal of human genetics, v.65, 1999, pp.1803-1806)
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153
- Co-occurrence of m.1555A>G and m.11778G>A mitochondrial DNA mutations in two Indian families with strikingly different clinical penetrance of Leber hereditary optic neuropathy
- Khan, Nahid Akhtar; Govindaraj, Periyasamy; Jyothi, Vuskamalla; Meena, Angamuthu K; Thangaraj, Kumarasamy; CSIR-Centre for Cellular and Molecular Biology, Hyderabad, India; CSIR-Centre for Cellular and Molecular Biology, Hyderabad, India; CSIR-Centre for Cellular and Molecular Biology, Hyderabad, India; Department of Neurology, Nizam’s Institute of Medical Sciences, Hyderabad, India; CSIR-Centre for Cellular and Molecular Biology, Hyderabad, India; (Molecular vision, v.19, 2013, pp.1282-1289)
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154
- Mitochondrial m.1584A 12S m <sup>6</sup> <sub>2</sub> A rRNA methylation in families with m.1555A>G associated hearing loss
- O'Sullivan, Mary; Rutland, Paul; Lucas, Deirdre; Ashton, Emma; Hendricks, Sebastian; Rahman, Shamima; Bitner-Glindzicz, Maria; Genetics and Genomic Medicine , UCL Institute of Child Health , London WC1N 1EH , UK ,; Genetics and Genomic Medicine , UCL Institute of Child Health , London WC1N 1EH , UK ,; Nuffield Hearing and Speech Centre , Royal National Throat Nose and Ear Hospital , London WC1X 8DA , UK ,; NE Thames Regional Genetics Service ,; Barnet and Chase Farm Hospitals NHS Trust, Enfield , Middlesex EN2 8JL , UK and; Genetics and Genomic Medicine , UCL Institute of Child Health , London WC1N 1EH , UK ,; Genetics and Genomic Medicine , UCL Institute of Child Health , London WC1N 1EH , UK ,; (Human molecular genetics, v.24, 2015, pp.1036-1044)
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155
- Mitochondrial mutation m.1555A>G as a risk factor for failed newborn hearing screening in a large cohort of preterm infants
- Gö pel, Wolfgang; Berkowski, Sandra; Preuss, Michael; Ziegler, Andreas; Kü ster, Helmut; Felderhoff-Mü ser, Ursula; Gortner, Ludwig; Mö gel, Michael; Hä rtel, Christoph; Herting, Egbert; Department of Paediatrics, University of Lü beck, University Hospital of Schleswig Holstein, Ratzeburger Allee 160, G-23538 Lü beck, Germany; Department of Paediatrics, University of Lü beck, University Hospital of Schleswig Holstein, Ratzeburger Allee 160, G-23538 Lü beck, Germany; Institute for Medical Biometry and Statistics, University of Lü beck, Lü beck, Germany; Institute for Medical Biometry and Statistics, University of Lü beck, Lü beck, Germany; Department of Paediatrics, Georg-August University, Gö ttingen, Germany; Department of Paediatrics, Essen University Hospital, Essen, Germany; Department of Paediatrics, University of Homburg, Homburg, Germany; Department of Paediatrics, University Hospital Carl Gustav Carus, Dresden, Germany; Department of Paediatrics, University of Lü beck, University Hospital of Schleswig Holstein, Ratzeburger Allee 160, G-23538 Lü beck, Germany; Department of Paediatrics, University of Lü be; (BMC pediatrics, v.14, 2014, pp.210-210)
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156
- Diagnostic methods and clinic application for mtDNA A1555G and GJB2 and SLC26A4 genes in deaf patients
- Dai, Pu; Yu, Fei; Kang, Dongyang; Zhang, Xin; Liu, Xin; Mi, Wenzong; Cao, Juyang; Yuan, Huijun; Yang, Weiyan; Wu, Bailin; Han, Dongyi; Department of Otorhinolarngology Head neck Surgery Otorhinolaryngology Institute, Genetic Testing Center for Deafness, General Hospital of Chinese People's Liberation Army; Department of Otorhinolarngology Head neck Surgery Otorhinolaryngology Institute, Genetic Testing Center for Deafness, General Hospital of Chinese People's Liberation Army; Department of Otorhinolarngology Head neck Surgery Otorhinolaryngology Institute, Genetic Testing Center for Deafness, General Hospital of Chinese People's Liberation Army; Department of Otorhinolarngology Head neck Surgery Otorhinolaryngology Institute, Genetic Testing Center for Deafness, General Hospital of Chinese People's Liberation Army; Department of Otorhinolarngology Head neck Surgery Otorhinolaryngology Institute, Genetic Testing Center for Deafness, General Hospital of Chinese People's Liberation Army; Department of Otorhinolarngology Head neck Surgery Otorhinolaryngology Institute, Genetic Testing Center for Deafness, General Hos; (中華耳鼻咽喉頭頸外科雜誌 = Chinese journal of otorhinolaryngology head and neck surgery, v.40, 2005, pp.769-773)
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157
- Immunohistochemical and ultrastructural abnormalities in muscle from a patient with sensorineural hearing loss related to a 1555 A-to-G mitochondrial mutation
- Kouzaki, Hideaki; Suzuki, Mikio; Shimizu, Takeshi; Corresponding author. Tel.: +81 77 548 2261; fax: +81 77 548 2783.; Department of Otolaryngology, Shiga University of Medical Science, Tsukinowa-cho, Seta, Otsu 520 2192, Japan; Department of Otolaryngology, Shiga University of Medical Science, Tsukinowa-cho, Seta, Otsu 520 2192, Japan; (Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia, v.14, 2007, pp.603-607)
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158
- The ND4 G11696A mutation may influence the phenotypic manifestation of the deafness-associated 12S rRNA A1555G mutation in a four-generation Chinese family
- Liao, Zhisu; Zhao, Jianyue; Zhu, Yi; Yang, Li; Yang, Aifen; Sun, Dongmei; Zhao, Zhongnong; Wang, Xinjian; Tao, Zhihua; Tang, Xiaowen; Wang, Jindan; Guan, Minqiang; Chen, Jiafu; Li, Zhiyuan; Lu, Jianxin; Guan, Min-Xin; ; (Biochemical and biophysical research communications, v.362, 2007, pp.670-676)
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159
- Cochlear implantation in a patient with profound hearing loss with the A1555G mitochondrial DNA mutation and no history of aminoglycoside exposure
- Ulubil, S Arif; Furze, Alexis D; Angeli, Simon I; ; (The journal of laryngology and otology, v.120, 2006, pp.230-232)
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160
- Mitochondrial 12S Ribosomal RNA A1555G Mutation Associated with Cardiomyopathy and Hearing Loss following High-Dose Chemotherapy and Repeated Aminoglycoside Exposure
- Skou, A.S.; Tranebjaerg, L.; Jensen, T.; Hasle, H.; ; (The Journal of pediatrics, v.164, 2014, pp.413-415)
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