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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 - 6 (of 6 Records)

Query Trace: Night Blindness and CACNA1F[original query]
Genotyping microarray for CSNB-associated genes.
Investigative ophthalmology & visual science 2009 Dec 50 (12): 5919-26.
Zeitz Christina, Labs Stephan, Lorenz Birgit, Forster Ursula, Uksti Janne, Kroes Hester Y, De Baere Elfride, Leroy Bart P, Cremers Frans P M, Wittmer Mariana, van Genderen Maria M, Sahel José-Alain, Audo Isabelle, Poloschek Charlotte M, Mohand-Saïd Saddek, Fleischhauer Johannes C, Hüffmeier Ulrike, Moskova-Doumanova Veselina, Levin Alex V, Hamel Christian P, Leifert Dorothee, Munier Francis L, Schorderet Daniel F, Zrenner Eberhart, Friedburg Christoph, Wissinger Bernd, Kohl Susanne, Berger Wolfga
Mutation screening of the LRIT3, CABP4, and GPR179 genes in Chinese patients with Schubert-Bornschein congenital stationary night blindness.
Ophthalmic genetics 2016 Jul 1-5.
Dan Handong, Song Xiusheng, Li Jiazhang, Xing Yiqiao, Li T
Disinhibition of intrinsic photosensitive retinal ganglion cells in patients with X-linked congenital stationary night blindness.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 2019 4 257 (6): 1207-1215.
Schatz Andreas, Kelbsch Carina, Zeitz Christina, Kohl Susanne, Zrenner Eberhart, Gekeler Florian, Wilhelm Helmut, Wilhelm Barbara, Willmann Gabri
A Novel Splice-Site Variant in CACNA1F Causes a Phenotype Synonymous with Åland Island Eye Disease and Incomplete Congenital Stationary Night Blindness.
Genes 2021 1 12 (2): .
Mahmood Usman, Méjécase Cécile, Ali Syed M A, Moosajee Mariya, Kozak Ig
Two novel CACNA1F gene mutations cause two different phenotypes: Aland Eye Disease and incomplete Congenital Stationary Night Blindness.
Experimental eye research 2022 6 221 109143.
Mihalich Alessandra, Cammarata Gabriella, Tremolada Gemma, Pollazzon Marzia, Di Blasio Anna Maria, Marzoli Stefania Bianc
Congenital Stationary Night Blindness: Clinical and Genetic Features.
International journal of molecular sciences 2022 12 23 (23): .
Kim Angela H, Liu Pei-Kang, Chang Yin-Hsi, Kang Eugene Yu-Chuan, Wang Hung-Hsuan, Chen Nelson, Tseng Yun-Ju, Seo Go Hun, Lee Hane, Liu Laura, Chao An-Ning, Chen Kuan-Jen, Hwang Yih-Shiou, Wu Wei-Chi, Lai Chi-Chun, Tsang Stephen H, Hsiao Meng-Chang, Wang Nan-K
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