Human Genome Epidemiology Literature Finder
Reproductive and Child Health
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Records 1 - 30 (of 1360 Records) |
| Query Trace: Hearing Loss Or Hearing Screening Or Congenital Deafness[original query] |
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| 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 |
| Biallelic Loss-of-Function Variants in BICD1 Are Associated with Peripheral Neuropathy and Hearing Loss. International journal of molecular sciences 2023 5 24 (10): . Yoel Hirsch, Wendy K Chung, Sergey Novoselov, Louis H Weimer, Alexander Rossor, Charles A LeDuc, Amanda J McPartland, Ernesto Cabrera, Josef Ekstein, Sholem Scher, Rick F Nelson, Giampietro Schiavo, Lindsay B Henderson, Kevin T A Boo |
| [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 |
| Whole-exome sequencing for screening noise-induced hearing loss susceptibility genes. Acta oto-laryngologica 2023 5 1-8. Boya Fan, Gang Wang, Gang Liu, Xiaoli Zhang, Wei |
| The association of genetic polymorphisms in protocadherin 15 with sudden sensorineural hearing loss in a Chinese population. Journal of clinical laboratory analysis 2023 5 e24896. Ying Lan, Tao Hou, Lu Peng, Yongpeng Li, Shihua Y |
| Loss-of-function mutations in MYO15A and OTOF cause non-syndromic hearing loss in two Yemeni families. Human genomics 2023 5 17 (1): 42. Maria Asaad, Mona Mahfood, Abdullah Al Mutery, Abdelaziz Tli |
| Programming Levels and Speech Perception in Pediatric Cochlear Implant Recipients With Enlarged Vestibular Aqueduct or GJB2 Mutation. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2023 5 44 (5): e273-e280. Kelly N Jahn, Charlotte Morse-Fortier, Amanda M Griffin, David Faller, Michael S Cohen, Margaret A Kenna, Elizabeth Doney, Julie G Arenbe |
| Analysis of Rotterdam Study cohorts confirms a previously identified RIPOR2 in-frame deletion as a prevalent genetic factor in phenotypically variable adult-onset hearing loss (DFNA21) in the Netherlands. Journal of medical genetics 2023 5 . Hedwig M Velde, Nienke C Homans, André Goedegebure, Cornelis P Lanting, Ronald J E Pennings, Hannie Krem |
| 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 |
| Cochlear Implants in Deaf Patients with Novel TMPRSS3 Gene Mutation. Alternative therapies in health and medicine 2023 4 . Yu Rong, Wang Kai, You Liujun, Kang Junxin, Ai Honghui, Jiang Hongq |
| Preimplantation genetic testing for hereditary hearing loss in Chinese population. Journal of assisted reproduction and genetics 2023 4 . Bi Qingling, Huang Shasha, Wang Hui, Gao Xue, Ma Minyue, Han Mingyu, Lu Sijia, Kang Dongyang, Nourbakhsh Aida, Yan Denise, Blanton Susan, Liu Xuezhong, Yuan Yongyi, Yao Yuanqing, Dai |
| Hearing Loss Related to Gene Mutations in Distal Renal Tubular Acidosis. Audiology & neuro-otology 2023 4 1-10. Ezgi Ay, Emre Gurses, Filiz Aslan, Bora Gulhan, Asuman Alniacik, Ali Duzova, Munir Demir Bajin, Levent Sennaroglu, Gulsum Aydan Genc, Fatih Ozaltin, Rezan Topalog |
| Overlooked KCNQ4 variants augment the risk of hearing loss. Experimental & molecular medicine 2023 4 . Oh Kyung Seok, Roh Jae Won, Joo Sun Young, Ryu Kunhi, Kim Jung Ah, Kim Se Jin, Jang Seung Hyun, Koh Young Ik, Kim Da Hye, Kim Hye-Youn, Choi Murim, Jung Jinsei, Namkung Wan, Nam Joo Hyun, Choi Jae Young, Gee Heon Yu |
| Distribution of CMV envelope glycoprotein B, H and N genotypes in infants with congenital cytomegalovirus symptomatic infection. Frontiers in pediatrics 2023 4 11 1112645. Dong Niuniu, Cao Lingfeng, Zheng Danni, Su Liyun, Lu Lijuan, Dong Zuoquan, Xu Menghua, Xu J |
| 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 |
| 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 |
| Analysis of SLC26A4 Gene in Individuals with Non Syndromic Hearing Impairment in Relation with GJB2 Associated Mutations. Avicenna journal of medical biotechnology 2023 4 15 (2): 124-127. Rajalakshmi Krishna, Thirunavukkarasu Jayakumar, Vikraman Meenu Ambika, Maruthy Santosh, Sylvester Charles, Kundapur Raje |
| Role of a novel mouse mutant of the Galnt2 gene in otitis media. Frontiers in neurology 2023 3 13 1054704. Ma Weijun, Li Heng, Hu Juan, Gao Ying, Lv Hui, Zhang Xiaotong, Zhang Qing, Xu Min, Cheng Yi |
| Novel WFS1 mutations in patients with low-to-middle frequency hearing loss. International journal of pediatric otorhinolaryngology 2023 3 167 111484. Guo Luo, Gu Xiaodong, Sun Qin, Zhang Yike, Li Huawei, Du Qia |
| Identification a novel pathogenic LRTOMT mutation in Mauritanian families with nonsyndromic deafness. 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 3 . Salame Malak, Bonnet Crystel, Moctar Ely Cheikh Mohamed, Brahim Selma Mohamed, Dedy Abdallahi, Vetah Ledour Abdel, Veten Fatimetou, Hamed Cheikh Tijani, Petit Christine, Houmeida Ahm |
| Role of Cisplatin Dose Intensity and TPMT Variation in the Development of Hearing Loss in Children. Therapeutic drug monitoring 2023 3 . Siemens Angela, Brooks Beth, Rassekh S Rod, Meijer Annelot J M, van den Heuvel-Eibrink Mary M, Xu Wei, Loucks Catrina M, Ross Colin J D, Carleton Bruce C, |
| Inflammatory markers and the risk of idiopathic sudden sensorineural hearing loss: A Mendelian randomization study. Frontiers in neurology 2023 3 14 1111255. Zhou Tingfeng, Chen Mengjiao, Yuan Ziyi, Xia Zhigang, Zhang Shurou, Zhang Ziheng, Chen Huanqi, Lin Ren |
| The genetic contribution of the X chromosome in age-related hearing loss. Frontiers in genetics 2023 3 14 1106328. Naderi Elnaz, Cornejo-Sanchez Diana M, Li Guangyou, Schrauwen Isabelle, Wang Gao T, Dewan Andrew T, Leal Suzanne |
| Hereditary etiology of non-syndromic sensorineural hearing loss in the Republic of North Ossetia-Alania. PeerJ 2023 2 11 e14514. Petrova Nika, Tebieva Inna, Kadyshev Vitaly, Getoeva Zalina, Balinova Natalia, Marakhonov Andrey, Vasilyeva Tatyana, Ginter Evgeny, Kutsev Sergey, Zinchenko Re |
| Genetic variants of cancer?associated genes analyzed using next?generation sequencing in small sporadic vestibular schwannomas. Oncology letters 2023 2 25 (3): 121. Fujita Takeshi, Sakai Kazuko, Uehara Natsumi, Hoshi Yujiro, Mori Anjin, Koyama Hajime, Sato Mitsuo, Saito Kazuya, Osaki Yasuhiro, Nishio Kazuto, Doi Katsu |
| 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 |
| Genotype and Clinical Characteristics of Patients with Wolfram Syndrome and WFS1-related Disorders. medRxiv : the preprint server for health sciences 2023 2 . Lee Evan M, Verma Megha, Palaniappan Nila, Pope Emiko M, Lee Sammie, Blacher Lindsey, Neerumalla Pooja, An William, Campbell Toko, Brown Cris, Hurst Stacy, Marshall Bess, Hershey Tamara, Nunes Virginia, de Heredia Miguel López, Urano Fumihi |
- Page last reviewed:Feb 1, 2023
- Page last updated:Jun 02, 2023
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