Human Genome Epidemiology Literature Finder
Records 1 - 18 (of 18 Records) |
Query Trace: Blindness and USH2A[original query] |
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Clinical aspects of Usher syndrome and the USH2A gene in a cohort of 433 patients. JAMA ophthalmology 2015 Feb 133 (2): 157-64. Blanco-Kelly Fiona, Jaijo Teresa, Aller Elena, Avila-Fernandez Almudena, López-Molina María Isabel, Giménez Ascensión, García-Sandoval Blanca, Millán José M, Ayuso Carm |
Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome. Molecular genetics & genomic medicine 2014 Sep 2 (5): 393-401. Krawitz Peter M, Schiska Daniela, Krüger Ulrike, Appelt Sandra, Heinrich Verena, Parkhomchuk Dmitri, Timmermann Bernd, Millan Jose M, Robinson Peter N, Mundlos Stefan, Hecht Jochen, Gross Manfr |
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 |
Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients. Orphanet journal of rare diseases 2015 10 (1): 110. Jiang Lichun, Liang Xiaofang, Li Yumei, Wang Jing, Zaneveld Jacques Eric, Wang Hui, Xu Shan, Wang Keqing, Wang Binbin, Chen Rui, Sui Ruifa |
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 |
Genome-Wide Detection of Copy Number Variations in Unsolved Inherited Retinal Disease. Investigative ophthalmology & visual science 2017 1 58 (1): 424-429. Huang Xiu-Feng, Mao Jian-Yang, Huang Zhi-Qin, Rao Feng-Qin, Cheng Fei-Fei, Li Fen-Fen, Wang Qing-Feng, Jin Zi-Bi |
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 |
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 |
A high prevalence of biallelic RPE65 mutations in Costa Rican children with Leber congenital amaurosis and early-onset retinal dystrophy. Ophthalmic genetics 2019 3 40 (2): 110-117. Glen W Bailey, Peterseim M Millicent W, Badilla Ramses, Znoyko Iya, Bourg Andre, Wilson Robert, Hardiman Gary, Wolff Daynna, Martinez Joaqu |
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 |
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 |
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 |
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 |
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 |
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 |
Natural history of retinitis pigmentosa based on genotype, vitamin A/E supplementation, and an electroretinogram biomarker. JCI insight 2023 6 . Jason Comander, Carol Weigel DiFranco, Kit Green Sanderson, Emily M Place, Matthew Maher, Erin Zampaglione, Yan Zhao, Rachel M Huckfeldt, Kinga M Bujakowska, Eric A Pier |
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- Page last updated:Apr 16, 2024
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