Human Genome Epidemiology Literature Finder
Records 1 - 9 (of 9 Records) |
Query Trace: PDE6C[original query] |
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Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy. Ophthalmology 2012 Apr 119 (4): 819-26. Thiadens Alberta A H J, Phan T My Lan, Zekveld-Vroon Renate C, Leroy Bart P, van den Born L Ingeborgh, Hoyng Carel B, Klaver Caroline C W, , Roosing Susanne, Pott Jan-Willem R, van Schooneveld Mary J, van Moll-Ramirez Norka, van Genderen Maria M, Boon Camiel J F, den Hollander Anneke I, Bergen Arthur A B, De Baere Elfride, Cremers Frans P M, Lotery Andrew |
Phosphodiesterase sequence variants may predispose to prostate cancer. Endocrine-related cancer 2015 Aug 22 (4): 519-30. de Alexandre Rodrigo B, Horvath Anelia D, Szarek Eva, Manning Allison D, Leal Leticia F, Kardauke Fabio, Epstein Jonathan A, Carraro Dirce M, Soares Fernando A, Apanasovich Tatiyana V, Stratakis Constantine A, Faucz Fabio |
Novel CNGA3 mutations in Chinese patients with achromatopsia. The British journal of ophthalmology 2015 Apr 99 (4): 571-6. Liang Xiaofang, Dong Fangtian, Li Hui, Li Huajin, Yang Lizhu, Sui Ruifa |
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 |
Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia. Human mutation 2018 Aug . Weisschuh Nicole, Stingl Katarina, Audo Isabelle, Biskup Saskia, Bocquet Béatrice, Branham Kari, Burstedt Marie S, De Baere Elfride, De Vries Meindert J, Golovleva Irina, Green Andrew, Heckenlively John, Leroy Bart P, Meunier Isabelle, Traboulsi Elias, Wissinger Bernd, Kohl Susan |
Genotypes and phenotypes of genes associated with achromatopsia: A reference for clinical genetic testing. Molecular vision 2020 9 26 588-602. Sun Wenmin, Li Shiqiang, Xiao Xueshan, Wang Panfeng, Zhang Qingjio |
PDE6C: Novel Mutations, Atypical Phenotype, and Differences Among Children and Adults. Investigative ophthalmology & visual science 2020 10 61 (12): 1. Daich Varela Malena, Ullah Ehsan, Yousaf Sairah, Brooks Brian P, Hufnagel Robert B, Huryn Laryssa |
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia. Human mutation 2022 3 43 (7): 832-858. Solaki Maria, Baumann Britta, Reuter Peggy, Andreasson Sten, Audo Isabelle, Ayuso Carmen, Balousha Ghassan, Benedicenti Francesco, Birch David, Bitoun Pierre, Blain Delphine, Bocquet Beatrice, Branham Kari, Català-Mora Jaume, De Baere Elfride, Dollfus Helene, Falana Mohammed, Giorda Roberto, Golovleva Irina, Gottlob Irene, Heckenlively John R, Jacobson Samuel G, Jones Kaylie, Jägle Herbert, Janecke Andreas R, Kellner Ulrich, Liskova Petra, Lorenz Birgit, Martorell-Sampol Loreto, Messias André, Meunier Isabelle, Belga Ottoni Porto Fernanda, Papageorgiou Eleni, Plomp Astrid S, de Ravel Thomy J L, Reiff Charlotte M, Renner Agnes B, Rosenberg Thomas, Rudolph Günther, Salati Roberto, Sener E Cumhur, Sieving Paul A, Stanzial Franco, Traboulsi Elias I, Tsang Stephen H, Varsanyi Balázs, Weleber Richard G, Zobor Ditta, Stingl Katarina, Wissinger Bernd, Kohl Susan |
Clinical and Genetic Features of Korean Patients with Achromatopsia. Genes 2023 2 14 (2): . Choi Yong Je, Joo Kwangsic, Lim Hyun Taek, Kim Sung Soo, Han Jinu, Woo Se Jo |
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- Page last updated:Apr 22, 2024
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