Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 735 Records) |
Query Trace: Deafness[original query] |
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Association of R1939W and P1987R variants of Otoferlin (OTOF) gene with severe to profound nonsyndromic sensorineural hearing loss in Pakistani subjects. Pakistan journal of medical sciences 2023 9 39 (5): 1456-1461. Hammael Naseer, Amir Rashid, Asifa Majeed, Zunaira Ali Ba |
Genetic Factors Contribute to the Phenotypic Variability in GJB2-Related Hearing Impairment. The Journal of molecular diagnostics : JMD 2023 9 . Yu-Ting Chiang, Pei-Hsuan Lin, Ming-Yu Lo, Hsin-Lin Chen, Chen-Yu Lee, Cheng-Yu Tsai, Yin-Hung Lin, Shih-Feng Tsai, Tien-Chen Liu, Chuan-Jen Hsu, Pei-Lung Chen, Jacob Shu-Jui Hsu, Chen-Chi |
Negative correlation between organ heteroplasmy, particularly hepatic heteroplasmy, and age at death revealed by post-mortem studies of m.3243A > G cases. Molecular genetics and metabolism 2023 9 140 (3): 107691. Kunimasa Yagi, Satoko Okazaki, Azusa Ohbatake, Masako Nakaya, Jianhui Liu, Eiko Arite, Yukiko Miyamoto, Naoko Ito, Kaoru Nakano, Naoto Yamaaki, Hisae Honoki, Shiho Fujisaka, Daisuke Chujo, Shin-Ichiro Tsunoda, Kunio Yanagimoto, Tsuyoshi Nozue, Masayo Yamada, Kotaro Ooe, Tsutomu Araki, Akikatsu Nakashima, Yasushi Azami, Yukio Sodemoto, Kenichi Tadokoro, Makoto Nagano, Tohru Noguchi, Atushi Nohara, Hideki Origasa, Yo Niida, Hayato Ta |
Left cardiac sympathetic denervation in children with Jervell Lange-Nielsen syndrome and drug refractory torsades - A case series. Pacing and clinical electrophysiology : PACE 2023 9 . Deepanjan Bhattacharya, Narayanan Namboodiri, Madhusoodanan Pillai Sreelekshmi, Mukund A Prabhu, Abhilash Sreevilasam Pushpangadhan, Sabarinath Menon, Baiju S Dharan, Ajitkumar Valaparamb |
Analysis of clinical characteristics of thyroid phenotype in Pendred syndrome based on multiple databases. European review for medical and pharmacological sciences 2023 7 27 (12): 5390-5396. Y-L Li, F-Y Gong, Z-Y Dang, W Xiong, M-D Zhang, Y-X Wang, C-C Wang, Z-G J |
Rare sequence variants associated with the risk of non-syndromic biliary atresia. Hepatology research : the official journal of the Japan Society of Hepatology 2023 7 . Satoshi Tamaoka, Akinari Fukuda, Kazuhiko Nakabayashi, Keiko Matsubara, Hiroko Ogata-Kawata, Yuki Muranishi, Kenichiro Hata, Yuko Kato-Fukui, Seisuke Sakamoto, Mureo Kasahara, Maki Fuka |
The correlation between deafness progression and SLC26A4 mutations in enlarged vestibular aqueduct patients. European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery 2023 7 . Kejia Yu, Xiao Liu, Beibei Ya |
MPZL2 variant analysis with whole exome sequencing in a cohort of Chinese hearing loss patients. International journal of pediatric otorhinolaryngology 2023 6 171 111635. Weitao Li, Luo Guo, Bing Chen, Yilai Shu, Huawei |
Molecular genetic screening of full-term small for gestational age. BMC pediatrics 2023 5 23 (1): 217. Shuman Zhang, Lingna Zhou, Lin Zhang, Yu Wang, Huaiyan Wa |
Identification of mutations on the EMD and EYA4 genes associated with Emery-Dreifuss muscular dystrophy and deafness: a case report. Frontiers in neurology 2023 5 14 1183147. Ana Karina Zambrano, Elius Paz-Cruz, Santiago Cadena-Ullauri, Patricia Guevara-Ramírez, Viviana A Ruiz-Pozo, Rafael Tamayo-Trujillo, Rita Ibarra-Castillo, José Luis Laso-Bayas, Nieves Doménech, Adriana Alexandra Ibarra-Rodríguez, Ricardo Hidal |
The GJB2 (Cx26) Gene Variants in Patients with Hearing Impairment in the Baikal Lake Region (Russia). Genes 2023 5 14 (5): . Vera G Pshennikova, Fedor M Teryutin, Alexandra M Cherdonova, Tuyara V Borisova, Aisen V Solovyev, Georgii P Romanov, Igor V Morozov, Alexander A Bondar, Olga L Posukh, Sardana A Fedorova, Nikolay A Barashk |
[A prospective study of genetic screening of 2 060 neonates by high-throughput sequencing]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 5 40 (6): 641-647. Danyan Zhuang, Fei Wang, Shuxia Ding, Zhoushu Zheng, Qi Yu, Lanqiu Lyu, Shuni Sun, Rulai Yang, Wenwen Que, Haibo |
Accurate phenotypic classification and exome sequencing allow identification of novel genes and variants associated with adult-onset hearing loss. medRxiv : the preprint server for health sciences 2023 5 . Morag A Lewis, Jennifer Schulte, Lois Matthews, Kenneth I Vaden, Claire J Steves, Frances M K Williams, Bradley A Schulte, Judy R Dubno, Karen P Ste |
Genetic Underpinnings and Audiological Characteristics in Children With Unilateral Sensorineural Hearing Loss. Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery 2023 5 . Chen-Yu Lee, Pei-Hsuan Lin, Yu-Ting Chiang, Cheng-Yu Tsai, Shu-Yu Yang, You-Mei Chen, Chao-Hsuan Li, Chun-Yi Lu, Tien-Chen Liu, Chuan-Jen Hsu, Pei-Lung Chen, Jacob Shujui Hsu, Chen-Chi |
Insight into the Natural History of Pathogenic Variant c.919-2A>G in the SLC26A4 Gene Involved in Hearing Loss: The Evidence for Its Common Origin in Southern Siberia (Russia). Genes 2023 4 14 (4): . Valeriia Yu Danilchenko, Marina V Zytsar, Ekaterina A Maslova, Konstantin E Orishchenko, Olga L Posu |
Hereditary spastic paraplegia (SPG 48) with deafness and azoospermia: A case report. Frontiers in neurology 2023 4 14 1156100. Ping Jin, Yu Wang, Na Nian, Gong-Qiang Wang, Xiao-Ming |
Analysis of GJB2 gene mutations spectrum and the characteristics of individuals with c.109G>A in Western Guangdong. Molecular genetics & genomic medicine 2023 4 e2185. Shaoming Liang, Weihong Li, Zhichao Chen, Shimin Yuan, Zhao Wa |
Optimized concurrent hearing and genetic screening in Beijing, China: A cross-sectional study. Bioscience trends 2023 4 . Wen Cheng, Yang Xiaozhe, Cheng Xiaohua, Zhang Wei, Li Yichen, Wang Jing, Wang Chuan, Ruan Yu, Zhao Liping, Lu Hongli, Li Yingxin, Bai Yue, Yu Yiding, Li Yue, Xie Jinge, Qi Bei-Er, En Hui, Liu Hui, Fu Xinxing, Huang Lihui, Han Dem |
Clinical and genome-wide association analysis of chemoradiation-induced hearing loss in nasopharyngeal carcinoma. Human genetics 2023 4 . He Yong-Qiao, Luo Lu-Ting, Wang Tong-Min, Xue Wen-Qiong, Yang Da-Wei, Li Dan-Hua, Diao Hua, Xiao Ruo-Wen, Deng Chang-Mi, Zhang Wen-Li, Liao Ying, Wu Yan-Xia, Wang Qiao-Ling, Zhou Ting, Li Xi-Zhao, Zheng Xiao-Hui, Zhang Pei-Fen, Zhang Shao-Dan, Hu Ye-Zhu, Sun Ying, Jia Wei-H |
Next-generation sequencing for genetic testing of hearing loss populations. Clinica chimica acta; international journal of clinical chemistry 2023 12 552 117693. Lulu Wang, Gang Liu, Dingyuan Ma, Huasha Zeng, Yuguo Wang, Chunyu Luo, Jingjing Zhang, Zhengfeng |
Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss. Genome medicine 2023 12 15 (1): 116. Sihan Liu, Mingjun Zhong, Yu Huang, Qian Zhang, Ting Chen, Xiaofei Xu, Wan Peng, Xiaolu Wang, Xiaoshu Feng, Lu Kang, Yu Lu, Jing Cheng, Fengxiao Bu, Huijun Yu |
The West of Scotland Cohort of Mitochondrial Individuals with the m.3243A>G Variant: Variations in Phenotypes and Predictors of Disease Severity. Journal of neuromuscular diseases 2023 12 . Charlie Saunders, Cheryl Longman, Grainne Gorman, Kelly James, Agata Oliwa, Richard Petty, Lesley Snadden, Maria Elena Farrug |
Prevalence and Clinical Characteristics of Mitochondrial DNA Mutations in Korean Patients With Sensorineural Hearing Loss. Journal of Korean medical science 2023 12 38 (48): e355. Sun Young Joo, Seung Hyun Jang, Jung Ah Kim, Se Jin Kim, Bonggi Kim, Hye-Youn Kim, Jae Young Choi, Heon Yung Gee, Jinsei Ju |
Accurate phenotypic classification and exome sequencing allow identification of novel genes and variants associated with adult-onset hearing loss. PLoS genetics 2023 11 19 (11): e1011058. Morag A Lewis, Jennifer Schulte, Lois Matthews, Kenneth I Vaden, Claire J Steves, Frances M K Williams, Bradley A Schulte, Judy R Dubno, Karen P Ste |
Penetrance and expressivity of mitochondrial variants in a large clinically unselected population. Human molecular genetics 2023 11 . Stuart J Cannon, Timothy Hall, Gareth Hawkes, Kevin Colclough, Roisin M Boggan, Caroline F Wright, Sarah J Pickett, Andrew T Hattersley, Michael N Weedon, Kashyap A Pat |
The miR-668 binding site variant rs1046322 on WFS1 is associated with obesity in Southeast Asians. Frontiers in endocrinology 2023 10 14 1185956. Maha M Hammad, Mohamed Abu-Farha, Prashantha Hebbar, Emil Anoop, Betty Chandy, Motasem Melhem, Arshad Channanath, Fahd Al-Mulla, Thangavel Alphonse Thanaraj, Jehad Abubak |
A novel method for detecting nine hotspot mutations of deafness genes in one tube. Scientific reports 2024 1 14 (1): 454. Yang Yu, Jun Zhang, Yuxia Zhan, Guanghua L |
Analysis of deafness susceptibility gene of neonates in northern Guangdong, China. Scientific reports 2024 1 14 (1): 362. Zhanzhong Ma, Wenbo Huang, Jing Xu, Jianwu Qiu, Yulan Liu, Meixian Ye, Shushu F |
Hereditary deafness carrier screening in 9,993 Chinese individuals. Frontiers in genetics 2024 1 14 1327258. Yanqiu Liu, Lei Wang, Lanlai Yuan, Yaqing Li, Zhengshi Chen, Bicheng Yang, Daqing Wang, Yu S |
MPZL2-a common autosomal recessive deafness gene related to moderate sensorineural hearing loss in the Chinese population. BMC medical genomics 2024 1 17 (1): 32. Lang Zhang, Jin-Yuan Yang, Qiu-Quan Wang, Xue Gao, Guo-Jian Wang, Ming-Yu Han, Dong-Yang Kang, Dong-Yi Han, Sha-Sha Huang, Yong-Yi Yu |
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- Page last updated:Mar 25, 2024
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