HuGE Literature Finder
Records 1-8
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
- Page last reviewed:Oct 1, 2020
- Page last updated:Jul 21, 2021
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