Records 1 - 30
| Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria.
European journal of human genetics : EJHG 2021 Nov .
Adeyemo Adebolajo, Faridi Rabia, Chattaraj Parna, Yousaf Rizwan, Tona Risa, Okorie Samuel, Bharadwaj Thashi, Nouel-Saied Liz M, Acharya Anushree, Schrauwen Isabelle, Morell Robert J, Leal Suzanne M, Friedman Thomas B, Griffith Andrew J, Roux Isabel
| 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
| 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
| 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
| 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
| 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
| 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
| 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
| 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
| 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
| 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
| 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
| 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
| 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
| 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
| 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
| 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
| 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
| 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
| 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
| 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
| 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
| 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
| 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
| 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
| 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
| 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
| 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
| 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
| The search of a genetic basis for noise-induced hearing loss (NIHL).
Annals of human biology 2011 Mar 38 (2): 210-8.
Abreu-Silva Ronaldo Serafim, Rincon Daniel, Horimoto Andréa Roseli Vançan Russo, Sguillar Ary Papa, Ricardo Luiz Artur Costa, Kimura Lilian, Batissoco Ana Carla, Auricchio Maria Teresa Balester De Mello, Otto Paulo Alberto, Mingroni-Netto Regina Cél