Human Genome Epidemiology Literature Finder
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Records 1 - 18 (of 18 Records) |
| Query Trace: Disease and CDH23[original query] |
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| Novel mutations in the USH1C gene in Usher syndrome patients. Molecular vision 2010 16 2948-54. Aparisi María José, García-García Gema, Jaijo Teresa, Rodrigo Regina, Graziano Claudio, Seri Marco, Simsek Tulay, Simsek Enver, Bernal Sara, Baiget Montserrat, Pérez-Garrigues Herminio, Aller Elena, Millán José Mar |
| Targeted next generation sequencing for molecular diagnosis of Usher syndrome. Orphanet journal of rare diseases 2014 9 168. Aparisi María J, Aller Elena, Fuster-García Carla, García-García Gema, Rodrigo Regina, Vázquez-Manrique Rafael P, Blanco-Kelly Fiona, Ayuso Carmen, Roux Anne-Françoise, Jaijo Teresa, Millán José |
| Genetic variants of CDH23 associated with noise-induced hearing loss. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2014 Feb 35 (2): 358-65. Kowalski Tomasz Jarema, Pawelczyk Malgorzata, Rajkowska Elzbieta, Dudarewicz Adam, Sliwinska-Kowalska Mario |
| Screening of DFNB3 in Iranian families with autosomal recessive non-syndromic hearing loss reveals a novel pathogenic mutation in the MyTh4 domain of the MYO15A gene in a linked family. Iranian journal of basic medical sciences 2016 Jul 19 (7): 772-8. Reiisi Somayeh, Tabatabaiefar Mohammad Amin, Sanati Mohammad Hosein, Chaleshtori Morteza Hashemzad |
| Discovery of gene-gene interactions across multiple independent data sets of late onset Alzheimer disease from the Alzheimer Disease Genetics Consortium. Neurobiology of aging 2016 Feb 38 141-50. Hohman Timothy J, Bush William S, Jiang Lan, Brown-Gentry Kristin D, Torstenson Eric S, Dudek Scott M, Mukherjee Shubhabrata, Naj Adam, Kunkle Brian W, Ritchie Marylyn D, Martin Eden R, Schellenberg Gerard D, Mayeux Richard, Farrer Lindsay A, Pericak-Vance Margaret A, Haines Jonathan L, Thornton-Wells Tricia A, |
Genome-wide association study identified ATP6V1H locus influencing cerebrospinal fluid BACE activity.
BMC medical genetics 2018 May 19 (1): 75. Hu Hao, Li Haiyan, Li Jieqiong, Yu Jintai, Tan Lan, |
| Comprehensive Molecular Screening in Chinese Usher Syndrome Patients. Investigative ophthalmology & visual science 2018 Mar 59 (3): 1229-1237. Sun Tengyang, Xu Ke, Ren Yanfan, Xie Yue, Zhang Xiaohui, Tian Lu, Li Ya |
| Genetic Screening of the Usher Syndrome in Cuba. Frontiers in genetics 2019 6 10 501. Santana Elayne E, Fuster-García Carla, Aller Elena, Jaijo Teresa, García-Bohórquez Belén, García-García Gema, Millán José M, Lantigua Arace |
| 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 |
| 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 |
| 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- |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Whole-genome sequencing to identify rare variants in East Asian patients with dementia with Lewy bodies. npj aging 2024 11 10 (1): 52. Tetsuaki Kimura, Kosuke Fujita, Takashi Sakurai, Shumpei Niida, Kouichi Ozaki, Daichi Shigemi |
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