Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 76 Records) |
Query Trace: CDH23[original query] |
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Synonymous variants associated with Alzheimer disease in multiplex families. Neurology. Genetics 2020 7 6 (4): e450. Tang Min, Alaniz Maria Eugenia, Felsky Daniel, Vardarajan Badri, Reyes-Dumeyer Dolly, Lantigua Rafael, Medrano Martin, Bennett David A, de Jager Philip L, Mayeux Richard, Santa-Maria Ismael, Reitz Christia |
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 |
Targeted sequencing reveals the somatic mutation landscape in a Swedish breast cancer cohort. Scientific reports 2020 11 10 (1): 19304. Mathioudaki Argyri, Ljungström Viktor, Melin Malin, Arendt Maja Louise, Nordin Jessika, Karlsson Åsa, Murén Eva, Saksena Pushpa, Meadows Jennifer R S, Marinescu Voichita D, Sjöblom Tobias, Lindblad-Toh Kerst |
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 |
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- |
Association Analysis of Candidate Gene Polymorphisms and Tinnitus in Young Musicians. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2021 Jul . Bhatt Ishan Sunilkumar, Dias Raquel, Torkamani A |
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 |
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 |
Identifying genetic risk variants associated with noise-induced hearing loss based on a novel strategy for evaluating individual susceptibility. Hearing research 2021 6 407 108281. Jiang Zhuang, Fa Botao, Zhang Xunmiao, Wang Jiping, Feng Yanmei, Shi Haibo, Zhang Yue, Sun Daoyuan, Wang Hui, Yin Shank |
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 |
Mitochondrial calcium uniporter is essential for hearing and hair cell preservation in congenic FVB/NJ mice. Scientific reports 2021 5 11 (1): 9660. Manikandan Mayakannan, Walker Steven, Deshmukh Aditi R, Perea Elizabeth, Wang Danqi, Alagramam Kumar N, Stepanyan Rub |
Common and Rare Genetic Variants That Could Contribute to Severe Otitis Media in an Australian Aboriginal Population.
Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 2021 3 73 (10): 1860-1870. Jamieson Sarra E, Fakiola Michaela, Tang Dave, Scaman Elizabeth, Syn Genevieve, Francis Richard W, Coates Harvey L, Anderson Denise, Lassmann Timo, Cordell Heather J, Blackwell Jenefer |
Cochlear Implantation Outcomes in Children With CDH23 Mutations-Associated Hearing Loss. Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery 2021 11 167 (3): 560-565. Chen Kaitian, Huang Bixue, Sun Jincangjian, Liang Yue, Xiong Guanx |
[Analysis of result of gene screening of neonatal deafness in Huizhou and surrounding urban areas]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021 11 38 (12): 1176-1179. Zeng Yun, Lu Xuanting, Wu Lifang, Zheng Y |
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, biological, and prognostic implications of SF3B1 co-occurrence mutations in very low/low- and intermediate-risk MDS patients. Annals of hematology 2021 Jan . Janusz Kamila, Izquierdo Marta Martín, Cadenas Félix López, Ramos Fernando, Sánchez Jesús María Hernández, Lumbreras Eva, Robledo Cristina, Del Real Javier Sánchez, Caballero Juan Carlos, Collado Rosa, Bernal Teresa, Pedro Carme, Insunza Andrés, de Paz Raquel, Xicoy Blanca, Salido Eduardo, García Joaquín Sánchez, Mínguez Sandra Santos, García Cristina Miguel, Muñoz Ana María Simón, Barba Mercedes Sánchez, Rivas Jesús María Hernández, Abáigar María, Campelo María Dí |
Disorders of Sex Development in Individuals Harbouring MAMLD1 Variants: WES and Interactome Evidence of Oligogenic Inheritance. Frontiers in endocrinology 2021 1 11 582516. Li Lele, Gao Fenqi, Fan Lijun, Su Chang, Liang Xuejun, Gong ChunX |
PNPT1, MYO15A, PTPRQ, and SLC12A2-associated genetic and phenotypic heterogeneity among hearing impaired assortative mating families in Southern India. Annals of human genetics 2021 Aug . Vanniya S Paridhy, Chandru Jayasankaran, Jeffrey Justin Margret, Rabinowitz Tom, Brownstein Zippora, Krishnamoorthy Mathuravalli, Avraham Karen B, Cheng Le, Shomron Noam, Srisailapathy C R Srikuma |
Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes. Genes 2022 8 13 (8): . Feenstra Helena M, Al-Khuzaei Saoud, Shah Mital, Broadgate Suzanne, Shanks Morag, Kamath Archith, Yu Jing, Jolly Jasleen K, MacLaren Robert E, Clouston Penny, Halford Stephanie, Downes Susan |
Association between genetic polymorphisms of cadherin 23 and noise-induced hearing loss: a meta-analysis. Annals of human biology 2022 Feb 49 (1): 41-53. Wu Zhi-Dan, Lu Jun-Qi, Du Wen-Jing, Wu Sh |
Novel Missense and Splice Site Mutations in USH2A, CDH23, PCDH15, and ADGRV1 Are Associated With Usher Syndrome in Lebanon. Frontiers in genetics 2022 6 13 864228. Jaffal Lama, Akhdar Hanane, Joumaa Hawraa, Ibrahim Mariam, Chhouri Zahraa, Assi Alexandre, Helou Charles, Lee Hane, Seo Go Hun, Joumaa Wissam H, El Shamieh Sa |
Whole-Exome Sequencing Targeting a Gene Panel for Sensorineural Hearing Loss: The First Portuguese Cohort Study. Cytogenetic and genome research 2022 5 162 (1-2): 1-9. Reis Cláudia Sousa, Quental Sofia, Fernandes Susana, Castedo Sérgio, Moura Carla Pin |
Whole exome analysis of patients in Japan with hearing loss reveals high heterogeneity among responsible and novel candidate genes. Orphanet journal of rare diseases 2022 3 17 (1): 114. Mutai Hideki, Momozawa Yukihide, Kamatani Yoichiro, Nakano Atsuko, Sakamoto Hirokazu, Takiguchi Tetsuya, Nara Kiyomitsu, Kubo Michiaki, Matsunaga Tats |
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 |
Variants in CDH23 cause a broad spectrum of hearing loss: from non-syndromic to syndromic hearing loss as well as from congenital to age-related hearing loss. Human genetics 2022 1 141 (3-4): 903-914. Usami Shin-Ichi, Isaka Yuichi, Miyagawa Maiko, Nishio Shin- |
Whole-genome resequencing reveals new mutations in candidate genes for Beichuan-white goat prolificacya. Animal biotechnology 2023 9 1-12. Aimin Zhou, Yi Ding, Xiaohui Zhang, Yugang Zhou, Yadong Liu, Tingjian Li, Long Xi |
Screening of genes interacting with high myopia and neuropsychiatric disorders. Scientific reports 2023 10 13 (1): 18347. Yang Liu, Yang Liu, Wen Zhang, Zhong-Qi Xue, Fang-Xia Zhang, Wei-Gang Xu, Wen-Juan Zhua |
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 |
Variations in the Cadherin 23 Gene Associated With Noise-Induced Hearing Loss. Journal of multidisciplinary healthcare 2024 4 17 1473-1482. Jie Jiao, Shanfa Yu, Guizhen Gu, Guoshun Chen, Huanling Zhang, Yuxin Zhe |
Interactions of genetic variations in FAS, GJB2 and PTPRN2 are associated with noise-induced hearing loss: a case-control study in China. BMC medical genomics 2024 1 17 (1): 18. Shan Wu, Zhidan Wu, Manlian Chen, Xiangbin Zhong, Haoyan Gu, Wenjing Du, Weidong Liu, Li Lang, Junyi Wa |
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- Page last updated:Apr 22, 2024
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