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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 10, 2024. (Total: 234259Documents)
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Records 1 - 8 (of 8 Records)

Query Trace: Vision and RPE65[original query]
Local production of the alternative pathway component factor B is sufficient to promote laser-induced choroidal neovascularization.
Investigative ophthalmology & visual science 2015 Mar 56 (3): 1850-63.
Schnabolk Gloriane, Coughlin Beth, Joseph Kusumam, Kunchithapautham Kannan, Bandyopadhyay Mausumi, O'Quinn Elizabeth C, Nowling Tamara, Rohrer Bärb
CLINICAL PROGRESS IN INHERITED RETINAL DEGENERATIONS: GENE THERAPY CLINICAL TRIALS AND ADVANCES IN GENETIC SEQUENCING.
Retina (Philadelphia, Pa.) 2016 Oct .
Hafler Brian
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
A Gene Scan Study of RPE65 in Chinese Patients with Leber Congenital Amaurosis.
Chinese medical journal 2017 Nov 130 (22): 2709-2712.
Liu Jing, Bu Ju
Copy number variations and multiallelic variants in Korean patients with Leber congenital amaurosis.
Molecular vision 2020 3 26 26-35.
Surl Dongheon, Shin Saeam, Lee Seung-Tae, Choi Jong Rak, Lee Junwon, Byeon Suk Ho, Han Sueng-Han, Lim Hyun Taek, Han Ji
Frequency and phenotypic characteristics of RPE65 mutations in the Chinese population.
Orphanet journal of rare diseases 2021 5 16 (1): 174.
Gao Feng-Juan, Wang Dan-Dan, Li Jian-Kang, Hu Fang-Yuan, Xu Ping, Chen Fang, Qi Yu-He, Liu Wei, Li Wei, Zhang Sheng-Hai, Chang Qing, Xu Ge-Zhi, Wu Ji-Ho
RPE65-Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study.
Investigative ophthalmology & visual science 2022 2 63 (2): 13.
Testa Francesco, Murro Vittoria, Signorini Sabrina, Colombo Leonardo, Iarossi Giancarlo, Parmeggiani Francesco, Falsini Benedetto, Salvetti Anna Paola, Brunetti-Pierri Raffaella, Aprile Giorgia, Bertone Chiara, Suppiej Agnese, Romano Francesco, Karali Marianthi, Donati Simone, Melillo Paolo, Sodi Andrea, Quaranta Luciano, Rossetti Luca, Buzzonetti Luca, Chizzolini Marzio, Rizzo Stanislao, Staurenghi Giovanni, Banfi Sandro, Azzolini Claudio, Simonelli Frances
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
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