Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 16 (of 16 Records) |
Query Trace: Achromatopsia 3[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 |
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 |
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 |
Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene. Human mutation 2019 5 40 (8): 1145-1155. Felden Julia, Baumann Britta, Ali Manir, Audo Isabelle, Ayuso Carmen, Bocquet Beatrice, Casteels Ingele, Garcia-Sandoval Blanca, Jacobson Samuel G, Jurklies Bernhard, Kellner Ulrich, Kessel Line, Lorenz Birgit, McKibbin Martin, Meunier Isabelle, de Ravel Thomy, Rosenberg Thomas, Rüther Klaus, Vadala Maria, Wissinger Bernd, Stingl Katarina, 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 |
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 |
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 |
Phenotypes and genotypes underlying paradoxical pupillary reaction in children. Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus 2022 6 26 (4): 205-207. Khan Arif |
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 |
Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study. Ophthalmology 2022 2 129 (6): 708-718. Kuht Helen J, Maconachie Gail D E, Han Jinu, Kessel Line, van Genderen Maria M, McLean Rebecca J, Hisaund Michael, Tu Zhanhan, Hertle Richard W, Gronskov Karen, Bai Dayong, Wei Aihua, Li Wei, Jiao Yonghong, Smirnov Vasily, Choi Jae-Hwan, Tobin Martin D, Sheth Viral, Purohit Ravi, Dawar Basu, Girach Ayesha, Strul Sasha, May Laura, Chen Fred K, Heath Jeffery Rachael C, Aamir Abdullah, Sano Ronaldo, Jin Jing, Brooks Brian P, Kohl Susanne, Arveiler Benoit, Montoliu Lluis, Engle Elizabeth C, Proudlock Frank A, Nishad Garima, Pani Prateek, Varma Girish, Gottlob Irene, Thomas Mervyn |
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 |
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 |
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- Page last updated:Apr 22, 2024
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