Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 47 Records) |
| Query Trace: Syndrome and USH2A[original query] |
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| Panel sequencing of 264 candidate susceptibility genes and segregation analysis in a cohort of non-BRCA1, non-BRCA2 breast cancer families. Breast cancer research and treatment 2017 Aug . Li Jun, Li Hongyan, Makunin Igor, , Thompson Bryony A, Tao Kayoko, Young Erin L, Lopez Jacqueline, Camp Nicola J, Tavtigian Sean V, John Esther M, Andrulis Irene L, Khanna Kum Kum, Goldgar David, Chenevix-Trench Georg |
| 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 |
| The Genetics of Usher Syndrome in the Israeli and Palestinian Populations. Investigative ophthalmology & visual science 2018 3 59 (2): 1095-1104. Khalaileh Ayat, Abu-Diab Alaa, Ben-Yosef Tamar, Raas-Rothschild Annick, Lerer Israela, Alswaiti Yahya, Chowers Itay, Banin Eyal, Sharon Dror, Khateb Sam |
| 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 |
| Clinical and Haplotypic Variability of Slovenian USH2A Patients Homozygous for the c. 11864G>A Nonsense Mutation. Genes 2019 12 10 (12): . Zupan Andrej, Fakin Ana, Battelino Saba, Jarc-Vidmar Martina, Hawlina Marko, Bonnet Crystel, Petit Christine, Glava? Damj |
| 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 |
| Mutation screening of the USH2A gene reveals two novel pathogenic variants in Chinese patients causing simplex usher syndrome 2. BMC ophthalmology 2020 2 20 (1): 70. He Chenhao, Liu Xinyu, Zhong Zilin, Chen Jianj |
| 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 |
| USH2A gene variants cause Keratoconus and Usher syndrome phenotypes in Pakistani families. BMC ophthalmology 2021 4 21 (1): 191. Ahmed Asif Naveed, Tahir Raheel, Khan Niamat, Ahmad Mushtaq, Dawood Muhammad, Basit Abdul, Yasin Muhammad, Nowshid Maha, Marwan Muhammad, Sultan Komal, Saleha Sham |
| Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration. BMC medical genomics 2021 3 14 (1): 74. Ma Dae Joong, Lee Hyun-Seob, Kim Kwangsoo, Choi Seongmin, Jang Insoon, Cho Seo-Ho, Yoon Chang Ki, Lee Eun Kyoung, Yu Hyeong G |
| USH2A-Related Retinitis Pigmentosa: Staging of Disease Severity and Morpho-Functional Studies. Diagnostics (Basel, Switzerland) 2021 2 11 (2): . Falsini Benedetto, Placidi Giorgio, De Siena Elisa, Savastano Maria Cristina, Minnella Angelo Maria, Maceroni Martina, Midena Giulia, Ziccardi Lucia, Parisi Vincenzo, Bertelli Matteo, Maltese Paolo Enrico, Chiurazzi Pietro, Rizzo Stanisl |
| 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 |
| Genetic Characteristics and Variation Spectrum of USH2A-Related Retinitis Pigmentosa and Usher Syndrome. Frontiers in genetics 2022 9 13 900548. Li Wei, Jiang Xiao-Sen, Han Dong-Ming, Gao Jia-Yu, Yang Zheng-Tao, Jiang Li, Zhang Qian, Zhang Sheng-Hai, Gao Ya, Wu Ji-Hong, Li Jian-Ka |
| Global spectrum of USH2A mutation in inherited retinal dystrophies: Prompt message for development of base editing therapy. Frontiers in aging neuroscience 2022 8 14 948279. Su Bing-Nan, Shen Ren-Juan, Liu Zhuo-Lin, Li Yang, Jin Zi-Bi |
| 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 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 |
| 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, |
| 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 |
| USH2A mutation and specific driver mutation subtypes are associated with clinical efficacy of immune checkpoint inhibitors in lung cancer. Journal of Zhejiang University. Science. B 2023 2 24 (2): 143-156. Yang Dexin, Feng Yuqin, Lu Haohua, Chen Kelie, Xu Jinming, Li Peiwei, Wang Tianru, Xia Dajing, Wu Yih |
| 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 |
| 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 |
| Prognostic mutations identified by whole-exome sequencing and validation of the Molecular International Prognostic Scoring System in myelodysplastic syndromes after allogeneic haematopoietic stem cell transplantation. British journal of haematology 2024 8 . Hong Wang, Xueqian Li, Jiaqian Qi, Hong Liu, Tiantian Chu, Xiaoyan Xu, Huiying Qiu, Chengcheng Fu, Xiaowen Tang, Changgeng Ruan, Depei Wu, Yue H |
| Structural Variants and Implicated Processes Associated with Familial Tourette Syndrome. International journal of molecular sciences 2024 6 25 (11): . Jakub P Fichna, Mateusz Chili?ski, Anup Kumar Halder, Pawe? Ci?szczyk, Dariusz Plewczynski, Cezary ?ekanowski, Piotr Jan |
| High prevalence of exon-13 variants in USH2A-related retinal dystrophies in Taiwanese population. Orphanet journal of rare diseases 2024 6 19 (1): 238. Yu-Wei Lin, Yu-Shu Huang, Chien-Yu Lin, Chao-Wen Lin, Chen-Chi Wu, Chang-Hao Yang, Chung-May Yang, Pei-Lung Chen, Ta-Ching Ch |
- Page last reviewed:Feb 1, 2024
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