Human Genome Epidemiology Literature Finder
Records 1 - 13 (of 13 Records) |
Query Trace: CACNA1F[original query] |
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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 analysis in 129 genes associated with other forms of retinal dystrophy in 157 families with retinitis pigmentosa based on exome sequencing. Molecular vision 2015 21 477-86. Xu Yan, Guan Liping, Xiao Xueshan, Zhang Jianguo, Li Shiqiang, Jiang Hui, Jia Xiaoyun, Yang Jianhua, Guo Xiangming, Yin Ye, Wang Jun, Zhang Qingjio |
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 |
Molecular genetics of cone-rod dystrophy in Chinese patients: New data from 61 probands and mutation overview of 163 probands. Experimental eye research 2016 Mar . Huang Li, Xiao Xueshan, Li Shiqiang, Jia Xiaoyun, Wang Panfeng, Sun Wenmin, Xu Yan, Xin Wei, Guo Xiangming, Zhang Qingjio |
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 |
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 |
Ca1.4 calcium channels control cytokine production by human peripheral T17 cells and psoriatic skin-infiltrating T cells. The Journal of allergy and clinical immunology 2021 10 149 (4): 1348-1357. Mars Marion, Néant Isabelle, Leclerc Catherine, Bosch Stéphanie, Rouviere Christian, Moreau Marc, Lachambre Simon, Paul Carle, Tauber Marie, Gravier Eléonore, Douzal Clara, Duplan Hélène, Babin Marine, Brocario Alexia, Thouvenin Marie-Dominique, Guéry Jean-Charles, Redoules Daniel, Lestienne Fabrice, Pelletier Lucette, Savignac Maga |
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 |
Whole Exome Sequencing in Multi-Incident Families Identifies Novel Candidate Genes for Multiple Sclerosis. International journal of molecular sciences 2022 10 23 (19): . Horjus Julia, van Mourik-Banda Tineke, Heerings Marco A P, Hakobjan Marina, De Witte Ward, Heersema Dorothea J, Jansen Anne J, Strijbis Eva M M, de Jong Brigit A, Slettenaar Astrid E J, Zeinstra Esther M P E, Hoogervorst Erwin L J, Franke Barbara, Kruijer Wiebe, Jongen Peter J, Visser Leo J, Poelmans Gee |
HIGH MYOPIA IS COMMON IN PATIENTS WITH X-LINKED RETINOPATHIES: Myopic Maculopathy Analysis. Retina (Philadelphia, Pa.) 2023 12 44 (1): 117-126. Li Huang, Yanting Lai, Limei Sun, Songshan Li, Xiaoyan Di |
Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia. Journal of translational medicine 2024 1 22 (1): 75. Yi Jiang, Xueshan Xiao, Wenmin Sun, Yingwei Wang, Shiqiang Li, Xiaoyun Jia, Panfeng Wang, J Fielding Hejtmancik, Qingjiong Zha |
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- Page last updated:Apr 22, 2024
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