Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 38 Records) |
| Query Trace: Hearing Loss and USH2A[original query] |
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| Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients. Scientific reports 2017 12 7 (1): 16783. Baux D, Vaché C, Blanchet C, Willems M, Baudoin C, Moclyn M, Faugère V, Touraine R, Isidor B, Dupin-Deguine D, Nizon M, Vincent M, Mercier S, Calais C, García-García G, Azher Z, Lambert L, Perdomo-Trujillo Y, Giuliano F, Claustres M, Koenig M, Mondain M, Roux A |
| STRC Deletion is a Frequent Cause of Slight to Moderate Congenital Hearing Impairment in the Czech Republic. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2017 10 38 (10): e393-e400. Plevova Pavlina, Paprskarova Martina, Tvrda Petra, Turska Petra, Slavkovsky Rastislav, Mrazkova E |
| Mutation screening of the USH2A gene in retinitis pigmentosa and USHER patients in a Han Chinese population. Eye (London, England) 2018 Jun . Huang Lulin, Mao Yao, Yang Jiyun, Li Yuanfeng, Li Yang, Yang Zhengl |
| 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 |
| Genetic Inheritance of Late-Onset, Down-Sloping Hearing Loss and Its Implications for Auditory Rehabilitation. Ear and hearing 2019 5 41 (1): 114-124. Song Mee Hyun, Jung Jinsei, Rim John Hoon, Choi Hye Ji, Lee Hack June, Noh Byunghwa, Lee Jun Suk, Gee Heon Yung, Choi Jae You |
| [Diagnosis and reproductive guidance for a couple carrying a novel c.1893C>T mutation of the TECTA gene]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2019 2 36 (2): 147-150. Zhou Chiyan, Li Suping, Song Qinhao, Liu Xiaodan, Miao Zhengy |
| Double Hyperautofluorescent Rings in Patients with USH2A-Retinopathy. Genes 2019 11 10 (12): . Fakin Ana, Šuštar Maja, Brecelj Jelka, Bonnet Crystel, Petit Christine, Zupan Andrej, Glava? Damjan, Jarc-Vidmar Martina, Battelino Saba, Hawlina Mar |
| USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa. The British journal of ophthalmology 2020 7 105 (5): 694-703. Zhu Tian, Chen De-Fu, Wang Lei, Wu Shijing, Wei Xing, Li Hui, Jin Zi-Bing, Sui Ruifa |
| Identification of novel USH2A mutations in patients with autosomal recessive retinitis pigmentosa via targeted next?generation sequencing. Molecular medicine reports 2020 Apr . Zhu Xiong, Li Xiao, Tian Wanli, Yang Yeming, Sun Kuanxiang, Li Shuzhen, Zhu Xianj |
| Establishing Genotype-phenotype Correlation in USH2A-related Disorders to Personalize Audiological Surveillance and Rehabilitation. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2020 (4): 431-437. Molina-Ramírez Leslie P, Lenassi Eva, Ellingford Jamie M, Sergouniotis Panagiotis I, Ramsden Simon C, Bruce Iain A, Black Graeme C |
| Truncating Variants Contribute to Hearing Loss and Severe Retinopathy in USH2A-Associated Retinitis Pigmentosa in Japanese Patients. International journal of molecular sciences 2020 10 21 (21): . Inaba Akira, Maeda Akiko, Yoshida Akiko, Kawai Kanako, Hirami Yasuhiko, Kurimoto Yasuo, Kosugi Shinji, Takahashi Masa |
| Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations. Orphanet journal of rare diseases 2020 Jan 15 (1): 29. Yu Xiaoyu, Lin Yun, Xu Jun, Che Tuanjie, Li Lin, Yang Tao, Wu H |
| The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A. International journal of molecular sciences 2021 12 22 (24): . Mansard Luke, Baux David, Vaché Christel, Blanchet Catherine, Meunier Isabelle, Willems Marjolaine, Faugère Valérie, Baudoin Corinne, Moclyn Melody, Bianchi Julie, Dollfus Helene, Gilbert-Dussardier Brigitte, Dupin-Deguine Delphine, Bonneau Dominique, Drumare Isabelle, Odent Sylvie, Zanlonghi Xavier, Claustres Mireille, Koenig Michel, Kalatzis Vasiliki, Roux Anne-Françoi |
| 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 |
| 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 |
| A Genotype-Phenotype Analysis of Usher Syndrome in Puerto Rico: A Case Series. Cureus 2022 8 14 (8): e28213. Santos David F, Molina Thurin Leonardo J, Gustavo Vargas José, Izquierdo Natalio J, Oliver Arman |
| Novel biallelic USH2A variants in a patient with usher syndrome type IIA- a case report. BMC ophthalmology 2022 3 22 (1): 140. Young Su Ling, Stanton Chloe M, Livesey Benjamin J, Marsh Joseph A, Cackett Peter |
| Tissue-specific genotype-phenotype correlations among USH2A-related disorders in the RUSH2A study. Human mutation 2022 3 43 (5): 613-624. Hufnagel Robert B, Liang Wendi, Duncan Jacque L, Brewer Carmen C, Audo Isabelle, Ayala Allison R, Branham Kari, Cheetham Janet K, Daiger Stephen P, Durham Todd A, Guan Bin, Heon Elise, Hoyng Carel B, Iannaccone Alessandro, Kay Christine N, Michaelides Michel, Pennesi Mark E, Singh Mandeep S, Ullah Ehsan, |
| 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 |
| Audiological Evidence of Frequent Hereditary Mild, Moderate and Moderate-to-Severe Hearing Loss. Journal of personalized medicine 2022 12 12 (11): . Markova Tatiana, Alekseeva Natalia, Lalayants Maria, Ryzhkova Oxana, Shatokhina Olga, Galeeva Nailya, Bliznetz Elena, Belov Oleg, Chibisova Svetlana, Polyakov Alexander, Tavartkiladze Geor |
| 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 |
| USH2A mutational spectrum causing syndromic and non-syndromic retinal dystrophies in a large cohort of Mexican patients. Molecular vision 2023 6 29 31-38. Vianey Ordoñez-Labastida, Oscar F Chacon-Camacho, Victor R Lopez-Rodriguez, Juan C Zente |
| 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 |
| Allelic hierarchy for USH2A influences auditory and visual phenotypes in South Korean patients. Scientific reports 2023 11 13 (1): 20239. Dong Woo Nam, Yong Keun Song, Jeong Hun Kim, Eun Kyoung Lee, Kyu Hyung Park, JuHyuen Cha, Byung Yoon Choi, Jun Ho Lee, Seung Ha Oh, Dong Hyun Jo, Sang-Yeon L |
| 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 |
| Investigating Splice Defects in USH2A Using Targeted Long-Read Sequencing. Cells 2024 8 13 (15): . Shwetha Chandrasekhar, Siying Lin, Neringa Jurkute, Kathryn Oprych, Leire Estramiana Elorrieta, Elena Schiff, Samantha Malka, Genevieve Wright, Michel Michaelides, Omar A Mahroo, Andrew R Webster, Gavin Ar |
| Spectrum of genetic variants in 306 patients with non-syndromic hearing loss from Croatia. Croatian medical journal 2024 6 65 (3): 198-208. Ivona Sansovi?, Ana-Maria Meaši?, Adriana Bobinec, Leona Morožin Pohovski, Ljubica Odak, Katarina Vulin, Bernarda Lozi?, Mijana Kero, Sanda Huljev Frkovi?, Silvija Pušelj |
| Identification of novel and known genetic variants associated with hereditary hearing loss in iranian families using whole exome sequencing. Molecular biology reports 2024 5 51 (1): 662. Nahid Rezaie, Nader Mansour Samaei, Morteza Oladna |
| Genetic diagnosis of childhood sensorineural hearing loss. Acta otorrinolaringologica espanola 2024 1 . Sara Reda Del Barrio, Alfredo García Fernández, Juan Francisco Quesada-Espinosa, María Teresa Sánchez-Calvín, Irene Gómez-Manjón, Olalla Sierra-Tomillo, Alexandra Juárez-Rufián, Joaquín de Vergas Gutiérr |
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