HuGE Literature Finder
Records 1-30
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Variations in the Mutational Spectrum in Nonsyndromic Hearing Impairment: A study of the Special Schools for the Deaf in Southern China.
The journal of international advanced otology 2019 Jul . Lin Ying, Yu Feng, Jiao Yuelong, Zhou Fe |
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[Application of next generation sequencing for the diagnosis of congenital hearing loss].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2019 Apr 36 (4): 301-305. Ren Shumin, Kong Xiangdong, Shi Huirong, Wu Qinghua, Liu Ni |
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Elucidation of the unique mutation spectrum of severe hearing loss in a Vietnamese pediatric population.
Scientific reports 2019 Feb 9 (1): 1604. Han Jae Joon, Nguyen Pham Dinh, Oh Doo-Yi, Han Jin Hee, Kim Ah-Reum, Kim Min Young, Park Hye-Rim, Tran Lam Huyen, Dung Nguyen Huu, Koo Ja-Won, Lee Jun Ho, Oh Seung Ha, Anh Vu Hoang, Choi Byung Yo |
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A rapid improved multiplex ligation detection reaction method for the identification of gene mutations in hereditary hearing loss.
PloS one 2019 14 (4): e0215212. Liu Yalan, Hu Chang, Liu Chang, Liu Deyuan, Mei Lingyun, He Chufeng, Jiang Lu, Wu Hong, Chen Hongsheng, Feng Yo |
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Analysis of mutation spectrum of common deafness-causing genes in Hakka newborns in southern China by semiconductor sequencing.
Medicine 2018 Sep 97 (38): e12285. Zhao Pingsen, Lin Lifang, Lan Liubi |
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Large scale newborn deafness genetic screening of 142,417 neonates in Wuhan, China.
PloS one 2018 13 (4): e0195740. Hao Zongjie, Fu Denggang, Ming Yang, Yang Jinlong, Huang Qi, Lin Weilong, Zhang Huan, Zhang Bin, Zhou Aifen, Hu Xijiang, Yao Cong, Dong Yunping, Ring Huijun Z, Ring Brian |
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Unique spectra of deafness-associated mutations in Mongolians provide insights into the genetic relationships among Eurasian populations.
PloS one 2018 13 (12): e0209797. Erdenechuluun Jargalkhuu, Lin Yin-Hung, Ganbat Khongorzul, Bataakhuu Delgermaa, Makhbal Zaya, Tsai Cheng-Yu, Lin Yi-Hsin, Chan Yen-Hui, Hsu Chuan-Jen, Hsu Wei-Chung, Chen Pei-Lung, Wu Chen-C |
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A reverse dot blot assay for the screening of twenty mutations in four genes associated with NSHL in a Chinese population.
PloS one 2017 12 (5): e0177196. Li Siping, Peng Qi, Liao Shengyun, Li Wenrui, Ma Qiang, Lu Xiaom |
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Deafness genes in families with non-syndromic hearing loss in Shandong, China: a genetic study.
Lancet (London, England) 2016 Oct 388 Suppl 1 S80. Bai Xiaohui, Xu Lei, Zhang Fengguo, Xiao Yun, Li Jianfeng, Wang Hai |
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Genetic frequencies related to severe or profound sensorineural hearing loss in Inner Mongolia Autonomous Region.
Genetics and molecular biology 2016 Oct 0. Liu Yongzhi, Ao Liying, Ding Haitao, Zhang Dong |
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Targeted Next-Generation Sequencing Successfully Detects Causative Genes in Chinese Patients with Hereditary Hearing Loss.
Genetic testing and molecular biomarkers 2016 Sep . Chen Siqi, Dong Cheng, Wang Qi, Zhong Zhen, Qi Yu, Ke Xiaomei, Liu Yu |
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Deafness gene mutations in newborns in Beijing.
Acta oto-laryngologica 2016 Jan 1-5. Han Shujing, Yang Xiaojian, Zhou Yi, Hao Jinsheng, Shen Adong, Xu Fang, Chu Ping, Jin Yaqiong, Lu Jie, Guo Yongli, Shi Jin, Liu Haihong, Ni X |
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Analysis of mitochondrial alterations in Brazilian patients with sensorineural hearing loss using MALDI-TOF mass spectrometry.
BMC medical genetics 2016 17 (1): 41. Alves Rogério Marins, da Silva Costa Sueli Matilde, do Amôr Divino Miranda Paulo Mauricio, Ramos Priscila Zonzini, Marconi Thiago Gibbin, Santos Oliveira Gisele, Castilho Arthur Menino, Sartorato Edi Lúc |
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Association of nuclear and mitochondrial genes with audiological examinations in Iranian patients with nonaminoglycoside antibiotics-induced hearing loss.
Therapeutics and clinical risk management 2016 12 117-28. Balali Maryam, Kamalidehghan Behnam, Farhadi Mohammad, Ahmadipour Fatemeh, Ashkezari Mahmoud Dehghani, Hemami Mohsen Rezaei, Arabzadeh Hossein, Falah Masoumeh, Meng Goh Yong, Houshmand Masso |
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SNPscan as a high-performance screening tool for mutation hotspots of hearing loss-associated genes.
Genomics 2015 Aug 106 (2): 83-7. Li Haibo, Wang Benjing, Liu Deyuan, Wang Ting, Li Qiong, Wang Wei, Li Ho |
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Genetic testing for sporadic hearing loss using targeted massively parallel sequencing identifies 10 novel mutations.
Clinical genetics 2015 Jun 87 (6): 588-93. Gu X, Guo L, Ji H, Sun S, Chai R, Wang L, Li |
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[Screening of common deafness gene mutations in 17 000 Chinese newborns from Chengdu based on microarray analysis].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2014 Oct 31 (5): 547-52. Lyu Kangmo, Xiong Yehua, Yu Hao, Zou Ling, Ran Longrong, Liu Deshun, Yin Qin, Xu Yingwen, Fang Xue, Song Zuling, Huang Lijia, Tan Dayong, Zhang Zhiw |
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Comparative study of mutation spectrums of MT-RNR1 m.1555A>G, GJB2, and SLC26A4 between familial and sporadic patients with nonsyndromic sensorineural hearing loss in Chinese Han.
Chinese medical journal 2014 127 (18): 3233-7. Li Qian, Ji Yubin, Han Bing, Zong Liang, Lan Lan, Zhao Yali, Wang Hongyang, Wang Dayong, Wang Qiu |
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Gentamicin, genetic variation and deafness in preterm children.
BMC pediatrics 2014 14 (1): 66. Bitner-Glindzicz Maria, Rahman Shamima, Chant Kathy, Marlow Ne |
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Association between idiopathic hearing loss and mitochondrial DNA mutations: a study on 169 hearing-impaired subjects.
International journal of molecular medicine 2013 Oct 32 (4): 785-94. Guaran Valeria, Astolfi Laura, Castiglione Alessandro, Simoni Edi, Olivetto Elena, Galasso Marco, Trevisi Patrizia, Busi Micol, Volinia Stefano, Martini Alessand |
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Newborn genetic screening for high risk deafness-associated mutations with a new Tetra-primer ARMS PCR kit.
International journal of pediatric otorhinolaryngology 2013 Sep 77 (9): 1440-5. Han Bing, Zong Liang, Li Qian, Zhang Zhidong, Wang Dayong, Lan Lan, Zhang Jingxin, Zhao Yali, Wang Qiu |
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Investigation of the A1555G mutation in mitochondrial DNA (MT-RNR1) in groups of Brazilian individuals with nonsyndromic deafness and normal-hearing.
Indian journal of human genetics 2013 Jan 19 (1): 54-7. Salomão Karina Bezerra, Ayo Christiane Maria, Della-Rosa Valter Augus |
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A rapid method for simultaneous screening of multi-gene mutations associated with hearing loss in the Korean population.
PloS one 2013 8 (3): e57237. Sagong Borum, Baek Jeong-In, Oh Se-Kyung, Na Kyung Jin, Bae Jae Woong, Choi Soo Young, Jeong Ji Yun, Choi Jae Young, Lee Sang-Heun, Lee Kyu-Yup, Kim Un-Kyu |
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Genetic mutations in nonsyndromic deafness patients of Chinese minority and Han ethnicities in Yunnan, China.
Journal of translational medicine 2013 11 312. Xin Feng, Yuan Yongyi, Deng Xiaoming, Han Mingyu, Wang Guojian, Zhao Jiandong, Gao Xue, Liu Jun, Yu Fei, Han Dongyi, Dai |
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Genetic mutations of GJB2 and mitochondrial 12S rRNA in nonsyndromic hearing loss in Jiangsu Province of China.
Journal of translational medicine 2013 11 (1): 163. Wei Qinjun, Wang Shuai, Yao Jun, Lu Yajie, Chen Zhibin, Xing Guangqian, Cao X |
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[Mitochondrial 12S rRNA variants studies in 456 subjects with hearing loss in seven schools for deaf and mutes in Zhejiang province].
Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery 2012 Dec 47 (12): 996-1003. Peng Guang-hua, Fang Fang, Zheng Jing, Zheng Bin-jiao, Yu Xiao, Wu Yue, Liang Ling-zhi, Zhang Qiong-min, Zhu Yi, Tang Xiao-wen, Chen Bo-b |
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Unique spectrum of GJB2 mutations in Mexico.
International journal of pediatric otorhinolaryngology 2012 Nov 76 (11): 1678-80. de la Luz Arenas-Sordo Maria, Menendez Ibis, Hernández-Zamora Edgar, Sirmaci Asli, Gutiérrez-Tinajero Diana, McGetrick Molly, Murphy-Ruiz Paulina, Leyva-Juárez Xolotl, Huesca-Hernández Fabiola, Dominguez-Aburto Juan, Tekin Musta |
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Novel mutations affecting the secondary structure of MT-RNR1 gene: a causal relationship with profound nonsyndromic hearing impairment.
Genetic testing and molecular biomarkers 2012 Sep 16 (9): 1092-7. Padma Gunda, Ramchander Puppala Venkat, Nandur Vijaya Udaya, Kumar Kurapati Ravi, Padma Tirunil |
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Rapid screening for the mitochondrial DNA C1494T mutation in a deaf population in China using real-time quantitative PCR.
Acta oto-laryngologica 2012 Aug 132 (8): 814-8. Li Qi, Yuan Yong-Yi, Huang De-Liang, Han Dong-Yi, Dai |
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[A novel method of detecting mitochondrial C1494T and A1555G mutations by using the base-quenched probe technique in a single PCR assay].
Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery 2012 Apr 47 (4): 326-9. ZHENG Lu, LUO Guang-hua, ZHANG Jun, ZHANG Xiao-ying, XU Ni |
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Spectrum of genetic changes in patients with non-syndromic hearing impairment and extremely high carrier frequency of 35delG GJB2 mutation in Belarus.
PloS one 2012 7 (5): e36354. Danilenko Nina, Merkulava Elena, Siniauskaya Marina, Olejnik Olga, Levaya-Smaliak Anastasia, Kushniarevich Alena, Shymkevich Andrey, Davydenko Ol |
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GJB2 and mitochondrial DNA 1555A>G mutations in students with hearing loss in the Hubei Province of China.
International journal of pediatric otorhinolaryngology 2011 Sep 75 (9): 1156-9. Chen Guanming, He Fang, Fu Siqing, Dong Jias |
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The prevalence of mitochondrial mutations associated with aminoglycoside-induced sensorineural hearing loss in an NICU population.
The Laryngoscope 2011 Jun 121 (6): 1184-6. Ealy Megan, Lynch Katherine A, Meyer Nicole C, Smith Richard J |
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[Common gene mutations study in Uyghur population with deafness in Kashgar region of Xinjiang].
Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery 2011 Mar 46 (3): 205-8. Chen Yu, Tudi Mayila, Lu Hong-li, Jiang Di, Zhao Juan, Hu Bin, Kuyaxi Pilidong, Zhang H |
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Newborn genetic screening for hearing impairment: a preliminary study at a tertiary center.
PloS one 2011 6 (7): e22314. Wu Chen-Chi, Hung Chia-Cheng, Lin Shin-Yu, Hsieh Wu-Shiun, Tsao Po-Nien, Lee Chien-Nan, Su Yi-Ning, Hsu Chuan-J |
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[Establishment of the multiplex quantitative ligase chain reaction for detecting mutations of deafness genes].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2010 Oct 27 (5): 530-4. Yang Xiao-lin, Xu Zheng-m |
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Role of the mitochondrial mutations, m.827A>G and the novel m.7462C>T, in the origin of hearing loss.
Genetic testing and molecular biomarkers 2010 Oct 14 (5): 611-6. Uehara Daniela Tiaki, Rincon Daniel, Abreu-Silva Ronaldo Serafim, Auricchio Maria Teresa Balester de Mello, Tabith Alfredo, Kok Fernando, Mingroni-Netto Regina Cél |
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Analysis of a large-scale screening of mitochondrial DNA m.1555A>G mutation in 2417 deaf-mute students in northwest of China.
Genetic testing and molecular biomarkers 2010 Aug 14 (4): 527-31. Guo Yu-Fen, Liu Xiao-Wen, Xu Bai-Cheng, Zhu Yi-Ming, Wang Yan-Li, Zhao Fei-Fan, Wang Da-Yong, Zhao Ya-Li, Ji Yu-Bin, Wang Qiu- |
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[Comparative analysis of the recurrent mutations between Uigur and Han ethnic deaf group in Xinjiang region of China].
Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology, head, and neck surgery 2010 Jan 24 (1): 11-5. Li Qi, Fang Ruping, Huang Deliang, Wang Guojian, Liu Xin, Dai |
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Mitochondrial haplotypes may modulate the phenotypic manifestation of the deafness-associated 12S rRNA 1555A>G mutation.
Mitochondrion 2010 Jan 10 (1): 69-81. Lu Jianxin, Qian Yaping, Li Zhiyuan, Yang Aifen, Zhu Yi, Li Ronghua, Yang Li, Tang Xiaowen, Chen Bobei, Ding Yu, Li Yongyan, You Junyan, Zheng Jing, Tao Zhihua, Zhao Fuxin, Wang Jindan, Sun Dongmei, Zhao Jianyue, Meng Yanzi, Guan Min-X |
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[Evaluation of deaf-mute patients with sensitive deafness gene screening in Shandong province].
Zhonghua yi xue za zhi 2009 Sep 89 (36): 2531-5. Ji Yu-bin, Han Dong-yi, Wang Da-yong, Zhou Yu, Zhao Cui, Wang Hui, Lan Lan, Wang Qiu- |
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Screening of the general Polish population for deafness-associated mutations in mitochondrial 12S rRNA and tRNA Ser(UCN) genes.
Genetic testing and molecular biomarkers 2009 Apr 13 (2): 167-72. Rydzanicz Ma?gorzata, Wróbel Maciej, Cywi?ska Karolina, Froehlich Dominika, Gawecki Wojciech, Szyfter Witold, Szyfter Krzyszt |
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Prevalence of mitochondrial 1555A-->G mutation in European children.
The New England journal of medicine 2009 Feb 360 (6): 640-2. Bitner-Glindzicz Maria, Pembrey Marcus, Duncan Andrew, Heron Jon, Ring Susan M, Hall Amanda, Rahman Shami |
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A rapid method for detection of five known mutations associated with aminoglycoside-induced deafness.
BMC medical genetics 2009 10 2. Bardien Soraya, Human Hannique, Harris Tashneem, Hefke Gwynneth, Veikondis Rene, Schaaf H Simon, van der Merwe Lize, Greinwald John H, Fagan Johan, de Jong Greet |
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Audiological and genetic features of the mtDNA mutations.
Acta oto-laryngologica 2008 Jul 128 (7): 732-8. Liu X Z, Angeli S, Ouyang X M, Liu W, Ke X M, Liu Y H, Liu S X, Du L L, Deng X W, Yuan H, Yan |
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GJB2 and mitochondrial A1555G gene mutations in nonsyndromic profound hearing loss and carrier frequencies in healthy individuals.
Journal of genetics 2008 Apr 87 (1): 53-7. Baysal Elif, Bayazit Yildirim A, Ceylaner Serdar, Alatas Necat, Donmez Buket, Ceylaner Gulay, San Imran, Korkmaz Baki, Yilmaz Akin, Menevse Adnan, Altunyay Senay, Gunduz Bulent, Goksu Nebil, Arslan Ahmet, Ekmekci Abdull |
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GJB2, SLC26A4 and mitochondrial DNA A1555G mutations in prelingual deafness in Northern Chinese subjects.
Acta oto-laryngologica 2008 Mar 128 (3): 297-303. Guo Yu-Fen, Liu Xiao-Wen, Guan Jing, Han Ming-Kun, Wang Da-Yong, Zhao Ya-Li, Rao Shao-Qi, Wang Qiu- |
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Mitochondrial non-syndromic sensorineural hearing loss: a clinical, audiological and pathological study from Italy, and revision of the literature.
Bioscience reports 2008 Feb 28 (1): 49-59. Berrettini Stefano, Forli Francesca, Passetti Susanna, Rocchi Anna, Pollina Luca, Cecchetti Denise, Mancuso Michelangelo, Siciliano Gabrie |
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Prospective mutation screening of three common deafness genes in a large Taiwanese Cohort with idiopathic bilateral sensorineural hearing impairment reveals a difference in the results between families from hospitals and those from rehabilitation facilities.
Audiology & neuro-otology 2008 13 (3): 172-81. Wu Chen-Chi, Chen Pei-Jer, Chiu Yu-Hsun, Lu Ying-Chang, Wu Ming-Chueh, Hsu Chuan-J |
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[Mitochondrial DNA A1555G mutation analysis in 802 nonsyndromic hearing impairment patients].
Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery 2007 Oct 42 (10): 739-42. Liu Xiao-wen, Guo Yu-fen, Han Dong-yi, Zhao Ya-li, Lan Lan, Zhao Cui, Wang Qiu- |
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Application of deafness diagnostic screening panel based on deafness mutation/gene database using invader assay.
Genetic testing 2007 11 (3): 333-40. Abe Satoko, Yamaguchi Toshikazu, Usami Shin-Ic |
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Frequency of mtDNA A1555G and A7445G mutations among children with prelingual deafness in Turkey.
European journal of pediatrics 2003 Mar 162 (3): 154-8. Tekin M, Duman T, Bo?oçlu G, Incesulu A, Comak E, Fitoz S, Yilmaz E, Ilhan I, Akar |
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Genetic susceptibility to aminoglycoside ototoxicity: how many are at risk?
Genetics in medicine : official journal of the American College of Medical Genetics 0 4 (5): 336-45. Tang Hsiao-Yuan, Hutcheson Eldridge, Neill Susan, Drummond-Borg Margaret, Speer Michael, Alford Raye Ly |
- Page last reviewed:Mar 16, 2019
- Page last updated:Jul 01, 2020
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