Records 1 - 30
| A novel missense variant in ESRRB gene causing autosomal recessive non-syndromic hearing loss: in silico analysis of a case.
BMC medical genomics 2022 2 15 (1): 18.
Ghasemnejad Tohid, Shekari Khaniani Mahmoud, Nouri Nojadeh Jafar, Mansoori Derakhshan Si
| Concurrent Hearing and Genetic Screening among Newborns in Ningbo, China.
Computational and mathematical methods in medicine 2022 2022 1713337.
Guomei Cao, Luyan Zhang, Lingling Dai, Chunhong Huang, Shan Ch
| Comparison of the Mutation Spectrum of Common Deafness-Causing Genes in 509 Patients With Nonsyndromic Hearing Loss in 4 Different Areas of China by Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry.
The journal of international advanced otology 2021 Nov 17 (6): 492-499.
Wang Yi, Chen Wencheng, Liu Zhizhong, Xing Wen, Zhang Haiy
| 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
| 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
| 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
| 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
| 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
| 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
| 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