HuGE Literature Finder
Records 1-30
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Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for the use of aminoglycosides based on MT-RNR1 genotype.
Clinical pharmacology and therapeutics 2021 May . McDermott John Henry, Wolf Joshua, Hoshitsuki Keito, Huddart Rachel, Caudle Kelly E, Whirl-Carrillo Michelle, Steyger Peter S, Smith Richard J H, Cody Neal, Rodriguez-Antona Cristina, Klein Teri E, Newman William |
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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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Contribution of the GSTP1 c.313A>G variant to hearing loss risk in patients exposed to platin chemotherapy during childhood.
Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico 2019 May 21 (5): 630-635. Liberman P H P, Goffi-Gomez M V S, Schultz C, Jacob P L, de Paula C A A, Sartorato E L, Torrezan G T, Ferreira E N, Carraro D |
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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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Contribution of SLC26A4 to the molecular diagnosis of nonsyndromic prelingual sensorineural hearing loss in a Brazilian cohort.
BMC research notes 2018 Aug 11 (1): 546. Carvalho Simone da Costa E Silva, Grangeiro Carlos Henrique Paiva, Picanço-Albuquerque Clarissa Gondim, Dos Anjos Thaís Oliveira, De Molfetta Greice Andreotti, Silva Wilson Araujo, Ferraz Victor Evangelista de Far |
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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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Screening of deafness-causing DNA variants that are common in patients of European ancestry using a microarray-based approach.
PloS one 2017 12 (3): e0169219. Yan Denise, Xiang Guangxin, Chai Xingping, Qing Jie, Shang Haiqiong, Zou Bing, Mittal Rahul, Shen Jun, Smith Richard J H, Fan Yao-Shan, Blanton Susan H, Tekin Mustafa, Morton Cynthia, Xing Wanli, Cheng Jing, Liu Xue Zho |
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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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Genetic Epidemiology of Mitochondrial Pathogenic Variants Causing Nonsyndromic Hearing Loss in a Large Cohort of South Indian Hearing Impaired Individuals.
Annals of human genetics 2016 Sep 80 (5): 257-73. Subathra Mahalingam, Ramesh Arabandi, Selvakumari Mathiyalagan, Karthikeyen N P, Srisailapathy C R Srikuma |
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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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Comprehensive genetic testing with ethnic-specific filtering by allele frequency in a Japanese hearing-loss population.
Clinical genetics 2015 Sep . Moteki Hideaki, Azaiez Hela, Booth Kevin T, Shearer A Eliot, Sloan Christina M, Kolbe Diana L, Nishio Shin-Ya, Hattori Mitsuru, Usami Shin-Ichi, Smith Richard J |
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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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Mutations in the two ribosomal RNA genes in mitochondrial DNA among Finnish children with hearing impairment.
BMC medical genetics 2015 16 3. Häkli Sanna, Luotonen Mirja, Sorri Martti, Majamaa Ka |
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Screening of genetic alterations related to non-syndromic hearing loss using MassARRAY iPLEX® technology.
BMC medical genetics 2015 16 (1): 85. Svidnicki Maria Carolina Costa Melo, Silva-Costa Sueli Matilde, Ramos Priscila Zonzini, Dos Santos Nathalia Zocal Pereira, Martins Fábio Tadeu Arrojo, Castilho Arthur Menino, Sartorato Edi Lúc |
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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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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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Optimization of simultaneous screening of the main mutations involved in non-syndromic deafness using the TaqMan® OpenArray™ Genotyping platform.
BMC medical genetics 2013 14 (1): 112. Martins Fábio Tadeu Arrojo, Ramos Priscila Zonzini, Svidnicki Maria Carolina Costa Melo, Castilho Arthur Menino, Sartorato Edi Lúc |
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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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Aminoglycoside-induced hearing loss in HIV-positive and HIV-negative multidrug-resistant tuberculosis patients.
South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde 2012 Jun 102 (6 Pt 2): 363-6. Harris Tashneem, Bardien Soraya, Schaaf H Simon, Petersen Lucretia, De Jong Greetje, Fagan Johannes |
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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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- Page last updated:Sep 23, 2021
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