HuGE Literature Finder
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| Association of Genetic Diagnoses for Childhood-Onset Hearing Loss With Cochlear Implant Outcomes. JAMA otolaryngology-- head & neck surgery 2023 1 149 (3): 212-222. Carlson Ryan J, Walsh Tom, Mandell Jessica B, Aburayyan Amal, Lee Ming K, Gulsuner Suleyman, Horn David L, Ou Henry C, Sie Kathleen C Y, Mancl Lisa, Rubinstein Jay, King Mary-Clai |
| Genetic screening of a Chinese cohort of children with hearing loss using a next-generation sequencing panel. Human genomics 2023 1 17 (1): 1. Ma Jing, Ma Xiuli, Lin Ken, Huang Rui, Bi Xianyun, Ming Cheng, Li Li, Li Xia, Li Guo, Zhao Liping, Yang Tao, Gao Yingqin, Zhang Tieso |
| The effect of SLC26A4 gene mutations on long-term rehabilitative outcomes in cochlear implant patients. Acta oto-laryngologica 2023 2 143 (2): 156-162. Wang Qin, Hu Jian, Bian Panpan, Chen Chi, Wang Yanli, Cheng Shihong, Guo Yufen, Xu Baiche |
| The Genetic Background of Hearing Loss in Patients with EVA and Cochlear Malformation. Genes 2023 2 14 (2): . Ba?dyga Natalia, Ozi?b?o Dominika, Gan Nina, Furmanek Mariusz, Leja Marcin L, Skar?y?ski Henryk, O?dak Moni |
| The Frequency of Common Deafness-Associated Variants Among 3,555,336 Newborns in China and 141,456 Individuals Across Seven Populations Worldwide. Ear and hearing 2022 Sep . Zhang Jiao, Wang Hongyang, Yan Chengbin, Guan Jing, Yin Linwei, Lan Lan, Li Jin, Zhao Lijian, Wang Qiu |
| Maternally transmitted nonsyndromic hearing impairment may be associated with mitochondrial tRNA 5601C>T and tRNA 12311T>C mutations. Journal of clinical laboratory analysis 2022 Feb e24298. Yu Xuejiao, Li Sheng, Ding |
| Compound heterozygous variants of the SLC26A4 gene in a Chinese family with enlarged vestibular aqueducts. BMC medical genomics 2022 7 15 (1): 152. He Xiaohui, Zhao Shaozhi, Shi Lin, Lu Yitong, Yang Yintong, Zhang Xinw |
| 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 |
| Concurrent newborn hearing and genetic screening of common hearing loss variants with bloodspot-based targeted next generation sequencing in Jiangxi province. Frontiers in pediatrics 2022 11 10 1020519. Luo Haiyan, Yang Yan, Wang Xinrong, Xu Fangping, Huang Cheng, Liu Danping, Zhang Liuyang, Huang Ting, Ma Pengpeng, Lu Qing, Huang Shuhui, Yang Bicheng, Zou Yongyi, Liu Yanq |
| Extended genetic diagnostics for children with profound sensorineural hearing loss by implementing massive parallel sequencing. Diagnostic outcome, family experience and clinical implementation. International journal of pediatric otorhinolaryngology 2022 7 159 111218. Elander Johanna, Ullmark Tove, Ehrencrona Hans, Jonson Tord, Piccinelli Paul, Samuelsson Sofie, Löwgren Karolina, Falkenius-Schmidt Karolina, Ehinger Johannes, Stenfeldt Karin, Värendh Mar |
| Genetic profiles of non-syndromic severe-profound hearing loss in Chinese Hans by whole-exome sequencing. Gene 2022 2 819 146258. Liu Ya, Tan Meihua, Cai Luhang, Lv Lihui, Chen Qingqing, Chen Wei, Yang Hang, Xu Yapi |
| Molecular diagnose of a large hearing loss population from China by targeted genome sequencing. Journal of human genetics 2022 8 67 (11): 643-649. Wu Jie, Cao Zongfu, Su Yu, Wang Yang, Cai Ruikun, Chen Jiyue, Gao Bo, Han Mingyu, Li Xiaohong, Zhang DeJun, Gao Xue, Huang Shasha, Huang Quanfei, Yuan Yongyi, Ma Xu, Dai |
| Molecular etiology study of hearing loss in 13 Chinese Han families. Frontiers in neurology 2022 12 13 1048218. Sun Lianhua, Lin Zhengyu, Wang Xiaowen, Shen Jiali, Li Yue, Huang Yuyu, Yang J |
| Rapid Genetic Diagnosis for Okinawan Patients with Enlarged Vestibular Aqueduct Using Single-Stranded Tag Hybridization Chromatographic Printed-Array Strip. Journal of clinical medicine 2022 2 11 (4): . Ganaha Akira, Hishinuma Eiji, Kaname Tadashi, Hiratsuka Masahiro, Kondo Shunsuke, Tono Tetsu |
| Report of rare and novel mutations in candidate genes in a cohort of hearing-impaired patients. Molecular genetics & genomic medicine 2022 2 10 (4): e1887. Liu Min, Liang Yue, Huang Bixue, Sun Jincangjian, Chen Kaiti |
| Selection of Diagnostically Significant Regions of the SLC26A4 Gene Involved in Hearing Loss. International journal of molecular sciences 2022 11 23 (21): . Danilchenko Valeriia Yu, Zytsar Marina V, Maslova Ekaterina A, Posukh Olga |
| Spectrum of Genes for Non-GJB2-Related Non-Syndromic Hearing Loss in the Russian Population Revealed by a Targeted Deafness Gene Panel. International journal of molecular sciences 2022 12 23 (24): . Shatokhina Olga, Galeeva Nailya, Stepanova Anna, Markova Tatiana, Lalayants Maria, Alekseeva Natalia, Tavarkiladze George, Markova Tatiana, Bessonova Liudmila, Petukhova Marina, Guseva Daria, Anisimova Inga, Polyakov Alexander, Ryzhkova Oxana, Bliznetz Ele |
| Whole-exome sequencing identifies genetic variants of hearing loss in 113 Chinese families. Clinica chimica acta; international journal of clinical chemistry 2022 5 532 53-60. Pan Jianyan, Ma Shanshan, Teng Yanling, Liang Desheng, Li Zhuo, Wu Lingqi |
| 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 |
| Genetic Susceptibility Study of Chinese Sudden Sensorineural Hearing Loss Patients with Vertigo. Current medical science 2021 Aug 41 (4): 673-679. Gao Yun, Wang Hong-Yang, Guan Jing, Lan Lan, Zhao Cui, Xie Lin-Yi, Wang Da-Yong, Wang Qiu- |
| Genetic mutations in patients with nonsyndromic hearing impairment of minority and Han Chinese ethnicities in Qinghai, China. The Journal of international medical research 2021 Apr 49 (4): 3000605211000892. Duan Shihong, Guo Yufen, Chen Xingjian, Li Yo |
| Genetic testing involving 100 common mutations for antenatal diagnosis of hereditary hearing loss in Chongqing, China. Medicine 2021 Apr 100 (17): e25647. Hu Hua, Zhou Peng, Wu Jiayan, Lei Wei, Wang Yang, Yang Ying, Liu Hailia |
| Clinical and genetic analysis of children with hearing loss and bilateral enlarged vestibular aqueducts. International journal of pediatric otorhinolaryngology 2021 11 152 110975. Nakano Atsuko, Arimoto Yukiko, Mutai Hideki, Nara Kiyomitsu, Inoue Satomi, Matsunaga Tats |
| Different Rates of the SLC26A4-Related Hearing Loss in Two Indigenous Peoples of Southern Siberia (Russia). Diagnostics (Basel, Switzerland) 2021 12 11 (12): . Danilchenko Valeriia Yu, Zytsar Marina V, Maslova Ekaterina A, Bady-Khoo Marita S, Barashkov Nikolay A, Morozov Igor V, Bondar Alexander A, Posukh Olga |
| Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant. Human genetics 2021 8 141 (3-4): 465-484. Smits Jeroen J, de Bruijn Suzanne E, Lanting Cornelis P, Oostrik Jaap, O'Gorman Luke, Mantere Tuomo, , Cremers Frans P M, Roosing Susanne, Yntema Helger G, de Vrieze Erik, Derks Ronny, Hoischen Alexander, Pegge Sjoert A H, Neveling Kornelia, Pennings Ronald J E, Kremer Hann |
| Molecular screening of patients with profound hearing loss from Chengdu, China. Acta oto-laryngologica 2021 12 142 (1): 57-60. Dai Qingqing, Dai Wei, Wang Dan, Liu Xia, Zou Ling, Chen Jiani, Zheng Hong, Duan Mao |
| Multi-Center in-Depth Screening of Neonatal Deafness Genes: Zhejiang, China. Frontiers in genetics 2021 12 637096. Cai Luhang, Liu Ya, Xu Yaping, Yang Hang, Lv Lihui, Li Yang, Chen Qiongqiong, Lin Xiaojiang, Yang Yihui, Hu Guangwei, Zheng Guofeng, Zhou Jing, Qian Qiyong, Xu Mei-Ai, Fang Jin, Ding Jianjun, Chen Wei, Gao Jio |
| Pendred Syndrome, or Not Pendred Syndrome? That Is the Question. Genes 2021 10 12 (10): . Tesolin Paola, Fiorino Sofia, Lenarduzzi Stefania, Rubinato Elisa, Cattaruzzi Elisabetta, Ammar Lydie, Castro Veronica, Orzan Eva, Granata Claudio, Dell'Orco Daniele, Morgan Anna, Girotto Giorg |
| Whole exome sequencing of six Chinese families with hereditary non-syndromic hearing loss. International journal of pediatric otorhinolaryngology 2021 7 148 110817. Liang Pengfei, Chen Fengping, Wang Shujuan, Li Qiong, Li Wei, Wang Jian, Chen Jun, Zha Dingj |
| Whole-Exome Sequencing Reveals a Rare Variant of OTOF Gene Causing Congenital Non-syndromic Hearing Loss Among Large Muslim Families Favoring Consanguinity. Frontiers in genetics 2021 6 12 641925. Fareed Mohd, Sharma Varun, Singh Inderpal, Rehman Sayeed Ur, Singh Gurdarshan, Afzal Mohamm |
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- Page last updated:Mar 22, 2023
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