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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 - 10 (of 10 Records)

Query Trace: Disease and CNGB3[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 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
CLINICAL PROGRESS IN INHERITED RETINAL DEGENERATIONS: GENE THERAPY CLINICAL TRIALS AND ADVANCES IN GENETIC SEQUENCING.
Retina (Philadelphia, Pa.) 2016 Oct .
Hafler Brian
[Molecular genetic diagnosis of Stargardt disease].
Vestnik oftalmologii 2017 133 (4): 4-11.
Sheremet N L, Zhorzholadze N V, Ronzina I A, Grushke I G, Kurbatov S A, Chukhrova A L, Loginova A N, Shcherbakova P O, Tanas A S, Polyakov A V, Strel'nikov V
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
Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation.
Human mutation 2019 9 41 (1): 255-264.
Weisschuh Nicole, Sturm Marc, Baumann Britta, Audo Isabelle, Ayuso Carmen, Bocquet Beatrice, Branham Kari, Brooks Brian P, Catalá-Mora Jaume, Giorda Roberto, Heckenlively John R, Hufnagel Robert B, Jacobson Samuel G, Kellner Ulrich, Kitsiou-Tzeli Sofia, Matet Alexandre, Martorell Sampol Loreto, Meunier Isabelle, Rudolph Günther, Sharon Dror, Stingl Katarina, Streubel Berthold, Varsányi Balázs, Wissinger Bernd, Kohl Susan
Molecular genetic cause of achromatopsia in two patients of Czech origin.
Ceska a slovenska oftalmologie : casopis Ceske oftalmologicke spolecnosti a Slovenske oftalmologicke spolecnosti 2020 5 75 (5): 272-276.
Hlavatá L, ?u?áková ?, Moravíková J, Zobanová A, Kousal B, Lišková
Clinical and Genetic Spectrum of Stargardt Disease in Argentinean Patients.
Frontiers in genetics 2021 4 12 646058.
Mena Marcela D, Moresco Angélica A, Vidal Sofía H, Aguilar-Cortes Diana, Obregon María G, Fandiño Adriana C, Sendoya Juan M, Llera Andrea S, Podhajcer Osvaldo
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
Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium.
Investigative ophthalmology & visual science 2024 8 65 (10): 40.
Pam A T Heutinck, L Ingeborgh van den Born, Maikel Vermeer, Adriana I Iglesias Gonzales, Carel B Hoyng, Jan Willem R Pott, Hester Y Kroes, Mary J van Schooneveld, Camiel J F Boon, Maria M van Genderen, Astrid S Plomp, Yvonne de Jong-Hesse, Michelle B van Egmond-Ebbeling, Lies H Hoefsloot, Arthur A Bergen, Caroline C W Klaver, Magda A Meester-Smoor, Alberta A H J Thiadens, Virginie J M Verhoev
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