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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Oct 14, 2024. (Total: 232476Documents)
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Records 1 - 7 (of 7 Records)

Query Trace: Retinal Diseases and RPGR[original query]
Exome Sequencing on 298 Probands With Early-Onset High Myopia: Approximately One-Fourth Show Potential Pathogenic Mutations in RetNet Genes.
Investigative ophthalmology & visual science 2015 Dec 56 (13): 8365-72.
Sun Wenmin, Huang Li, Xu Yan, Xiao Xueshan, Li Shiqiang, Jia Xiaoyun, Gao Bei, Wang Panfeng, Guo Xiangming, Zhang Qingjio
Molecular and phenotypic investigation of a New Zealand cohort of childhood-onset retinal dystrophy.
American journal of medical genetics. Part C, Seminars in medical genetics 2020 8 184 (3): 708-717.
Hull Sarah, Kiray Gulunay, Chiang John Pei-Wen, Vincent Andrea
[New techniques for quantification of color vision in disorders of cone function : Cambridge color test and photoreceptor-specific temporal contrast sensitivity in patients with heterozygous RP1L1 and RPGR mutations].
Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft 2020 5 118 (2): 144-153.
Huchzermeyer Cord, Fars Julien, Stöhr Heidi, Kremers J
Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals.
Frontiers in genetics 2022 7 13 914345.
Maltese Paolo Enrico, Colombo Leonardo, Martella Salvatore, Rossetti Luca, El Shamieh Said, Sinibaldi Lorenzo, Passarelli Chiara, Coppè Andrea Maria, Buzzonetti Luca, Falsini Benedetto, Chiurazzi Pietro, Placidi Giorgio, Tanzi Benedetta, Bertelli Matteo, Iarossi Giancar
Genetic characteristics of suspected retinitis pigmentosa in a cohort of Chinese patients.
Gene 2022 12 853 147087.
Jin Bingyu, Li Jing, Yang Qiaodan, Tang Xinyu, Wang Chen, Zhao Yue, Zheng Fang, Zhang Yuanzhen, Ma Jianhong, Yan Mi
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
Simultaneous Detection of Common Founder Mutations Using a Cost-Effective Deep Sequencing Panel.
Genes 2024 5 15 (5): .
Sapir Shalom, Mor Hanany, Avital Eilat, Itay Chowers, Tamar Ben-Yosef, Samer Khateb, Eyal Banin, Dror Shar
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