Human Genome Epidemiology Literature Finder
Records 1 - 10 (of 10 Records) |
Query Trace: CNGA3[original query] |
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CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. European journal of human genetics : EJHG 2005 Mar 13 (3): 302-8. Kohl Susanne, Varsanyi Balazs, Antunes Gesine Abadin, Baumann Britta, Hoyng Carel B, Jägle Herbert, Rosenberg Thomas, Kellner Ulrich, Lorenz Birgit, Salati Roberto, Jurklies Bernhard, Farkas Agnes, Andreasson Sten, Weleber Richard G, Jacobson Samuel G, Rudolph Günther, Castellan Claudio, Dollfus Helene, Legius Eric, Anastasi Mario, Bitoun Pierre, Lev Dorit, Sieving Paul A, Munier Francis L, Zrenner Eberhart, Sharpe Lindsay T, Cremers Frans P M, Wissinger Ber |
Genetic etiology and clinical consequences of complete and incomplete achromatopsia. Ophthalmology 2009 Jul . Thiadens AA, Slingerland NW, Roosing S, van Schooneveld MJ, van Lith-Verhoeven JJ, van Moll-Ramirez N, van den Born LI, Hoyng CB, Cremers FP, Klaver CC |
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 |
CLINICAL PROGRESS IN INHERITED RETINAL DEGENERATIONS: GENE THERAPY CLINICAL TRIALS AND ADVANCES IN GENETIC SEQUENCING. Retina (Philadelphia, Pa.) 2016 Oct . Hafler Brian |
Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel-associated retinopathy. The Journal of clinical investigation 2018 11 128 (12): 5663-5675. Burkard Markus, Kohl Susanne, Krätzig Timm, Tanimoto Naoyuki, Brennenstuhl Christina, Bausch Anne E, Junger Katrin, Reuter Peggy, Sothilingam Vithiyanjali, Beck Susanne C, Huber Gesine, Ding Xi-Qin, Mayer Anja K, Baumann Britta, Weisschuh Nicole, Zobor Ditta, Hahn Gesa-Astrid, Kellner Ulrich, Venturelli Sascha, Becirovic Elvir, Charbel Issa Peter, Koenekoop Robert K, Rudolph Günther, Heckenlively John, Sieving Paul, Weleber Richard G, Hamel Christian, Zong Xiangang, Biel Martin, Lukowski Robert, Seeliger Matthias W, Michalakis Stylianos, Wissinger Bernd, Ruth Pet |
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 |
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 |
Functional evaluation allows ACMG/AMP-based re-classification of CNGA3 variants associated with achromatopsia. Genetics in medicine : official journal of the American College of Medical Genetics 2023 9 100979. Maria Solaki, Bernd Wissinger, Susanne Kohl, Peggy Reut |
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 29, 2024
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