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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 6 (of 6 Records)

Query Trace: Disease and CNGA3[original query]
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
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
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
Refractive Error in Inherited Retinal Disease.
American journal of ophthalmology 2024 9 .
Shaden H Yassin, Naomi E Wagner, Thomas Khuu, Ryan Schmidt, Austin D Igelman, Molly Marra, Hilary Schwartz, Evan Walker, Aaron Nagiel, Paul Yang, Lesley A Everett, Mark E Pennesi, Shyamanga Boroo
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