HuGE Literature Finder
Records 1-22
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Targeted next-generation sequencing of deaf patients from Southwestern China.
Molecular genetics & genomic medicine 2021 Mar e1660. Li Yunlong, Su Jie, Zhang Jingman, Pei Jiahong, Li Dongmei, Zhang Yinhong, Li Jingyu, Chen Menglang, Zhu Baoshe |
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Next-generation sequencing identifies rare pathogenic and novel candidate variants in a cohort of Chinese patients with syndromic or nonsyndromic hearing loss.
Molecular genetics & genomic medicine 2020 Oct e1539. Xiang Yan-Bao, Xu Chen-Yang, Xu Yun-Zhi, Li Huan-Zheng, Zhou Li-Li, Xu Xue-Qin, Chen Zi-Hui, Tang Shao-H |
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The mutation frequencies of GJB2, GJB3, SLC26A4 and MT-RNR1 of patients with severe to profound sensorineural hearing loss in northwest China.
International journal of pediatric otorhinolaryngology 2020 May 136 110143. Liu Xiao-Wen, Wang Jian-Chao, Wang Su-Yang, Li Shu-Juan, Zhu Yi-Ming, Ding Wen-Juan, Xu Chen-Yang, Duan Lei, Xu Bai-Cheng, Guo Yu-F |
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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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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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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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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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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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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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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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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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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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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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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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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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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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- Page last updated:Sep 16, 2021
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