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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: May 30, 2023. (Total: 217422Documents)
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Records 1 - 4 (of 4 Records)

Query Trace: Retinal Dystrophies and ERG[original query]
Novel GUCY2D Gene Mutations in Japanese Male Twins with Leber Congenital Amaurosis.
Journal of ophthalmology 2015 2015 693468.
Hosono Katsuhiro, Harada Yuko, Kurata Kentaro, Hikoya Akiko, Sato Miho, Minoshima Shinsei, Hotta Yoshihi
CFH Y402H polymorphism in Italian patients with age-related macular degeneration, retinitis pigmentosa, and Stargardt disease.
Ophthalmic genetics 2018 Oct 1-7.
Sodi Andrea, Passerini Ilaria, Bacherini Daniela, Boni Luca, Palchetti Simona, Murro Vittoria, Caporossi Orsola, Mucciolo Dario Pasquale, Franco Fabrizio, Vannozzi Lorenzo, Torricelli Francesca, Pelo Elisabetta, Rizzo Stanislao, Virgili Gian
Spectrum of Disease Severity in Nonsyndromic Patients With Mutations in the CEP290 Gene: A Multicentric Longitudinal Study.
Investigative ophthalmology & visual science 2021 7 62 (9): 1.
Testa Francesco, Sodi Andrea, Signorini Sabrina, Di Iorio Valentina, Murro Vittoria, Brunetti-Pierri Raffaella, Valente Enza Maria, Karali Marianthi, Melillo Paolo, Banfi Sandro, Simonelli Frances
A five-year follow-up of ABCA4 carriers showing deterioration of retinal function and increased structural changes.
Molecular vision 2022 11 28 300-316.
Kjellström Ulrika, Andréasson St
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