Human Genome Epidemiology Literature Finder
Records 1 - 13 (of 13 Records) |
Query Trace: Vision and USH2A[original query] |
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Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews. Genetic testing 2008 Jun 12 (2): 289-94. Auslender Noa, Bandah Dikla, Rizel Leah, Behar Doron M, Shohat Mordechai, Banin Eyal, Allon-Shalev Stavit, Sharony Reuven, Sharon Dror, Ben-Yosef Tam |
Comprehensive molecular diagnosis of a large cohort of Japanese retinitis pigmentosa and Usher syndrome patients by next-generation sequencing. Investigative ophthalmology & visual science 2014 Nov 55 (11): 7369-75. Oishi Maho, Oishi Akio, Gotoh Norimoto, Ogino Ken, Higasa Koichiro, Iida Kei, Makiyama Yukiko, Morooka Satoshi, Matsuda Fumihiko, Yoshimura Nagahi |
Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa. Ophthalmology 2016 Feb . Pierrache Laurence H M, Hartel Bas P, van Wijk Erwin, Meester-Smoor Magda A, Cremers Frans P M, de Baere Elfride, de Zaeytijd Julie, van Schooneveld Mary J, Cremers Cor W R J, Dagnelie Gislin, Hoyng Carel B, Bergen Arthur A, Leroy Bart P, Pennings Ronald J E, van den Born L Ingeborgh, Klaver Caroline C |
Identification of the genetic determinants responsible for retinal degeneration in families of Mexican descent. Ophthalmic genetics 2017 Sep 1-7. Villanueva Adda, Biswas Pooja, Kishaba Kameron, Suk John, Tadimeti Keerti, Raghavendra Pongali B, Nadeau Karine, Lamontagne Bruno, Busque Lambert, Geoffroy Steve, Mongrain Ian, Asselin Géraldine, Provost Sylvie, Dubé Marie-Pierre, Nudleman Eric, Ayyagari Rad |
Exome sequencing study of 20 patients with high myopia. PeerJ 2018 9 6 e5552. Wan Ling, Deng Boling, Wu Zhengzheng, Chen Xiaomi |
Compound pathogenic mutation in the USH2A gene in Chinese RP families detected by whole?exome sequencing. Molecular medicine reports 2018 10 18 (6): 5016-5022. Fu Yue-Chuan, Chen Na, Qiu Zi-Long, Liu Lin, Shen J |
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 |
Utility of a Genetic Screening Panel in Patients With Suspected Inherited Retinal Dystrophies. Ophthalmic surgery, lasers & imaging retina 2020 6 51 (6): 338-345. McGowan Heather, Madreperla Olivia R, Snyder Alexandra L, Fine Howard |
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 |
Genetic and clinical findings of panel-based targeted exome sequencing in a northeast Chinese cohort with retinitis pigmentosa. Molecular genetics & genomic medicine 2020 2 8 (4): e1184. Sun Yan, Li Wei, Li Jian-Kang, Wang Zhuo-Shi, Bai Jin-Yue, Xu Ling, Xing Bo, Yang Wen, Wang Zi-Wei, Wang Lu-Sheng, He Wei, Chen Fa |
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 |
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy. Scientific reports 2022 12 12 (1): 20815. Karali Marianthi, Testa Francesco, Di Iorio Valentina, Torella Annalaura, Zeuli Roberta, Scarpato Margherita, Romano Francesca, Onore Maria Elena, Pizzo Mariateresa, Melillo Paolo, Brunetti-Pierri Raffaella, Passerini Ilaria, Pelo Elisabetta, Cremers Frans P M, Esposito Gabriella, Nigro Vincenzo, Simonelli Francesca, Banfi Sand |
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 |
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- Page last updated:Apr 22, 2024
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