Human Genome Epidemiology Literature Finder
Records 1 - 7 (of 7 Records) |
Query Trace: Abnormalities and ABCA4[original query] |
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Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa. European journal of human genetics : EJHG 2004 Dec 12 (12): 1024-32. Klevering B Jeroen, Yzer Suzanne, Rohrschneider Klaus, Zonneveld Marijke, Allikmets Rando, van den Born L Ingeborgh, Maugeri Alessandra, Hoyng Carel B, Cremers Frans P |
ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies. European journal of human genetics : EJHG 2008 Jul 16 (7): 812-9. Kitiratschky Veronique B D, Grau Tanja, Bernd Antje, Zrenner Eberhart, Jägle Herbert, Renner Agnes B, Kellner Ulrich, Rudolph Günther, Jacobson Samuel G, Cideciyan Artur V, Schaich Simone, Kohl Susanne, Wissinger Ber |
Correlation between photoreceptor layer integrity and visual function in patients with Stargardt disease: implications for gene therapy. Investigative ophthalmology & visual science 2012 Jul 53 (8): 4409-15. Testa Francesco, Rossi Settimio, Sodi Andrea, Passerini Ilaria, Di Iorio Valentina, Della Corte Michele, Banfi Sandro, Surace Enrico Maria, Menchini Ugo, Auricchio Alberto, Simonelli Frances |
Early-onset stargardt disease: phenotypic and genotypic characteristics. Ophthalmology 2015 Feb 122 (2): 335-44. Lambertus Stanley, van Huet Ramon A C, Bax Nathalie M, Hoefsloot Lies H, Cremers Frans P M, Boon Camiel J F, Klevering B Jeroen, Hoyng Carel |
Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies. International journal of molecular sciences 2019 10 20 (19): . Boulanger-Scemama Elise, Mohand-Saïd Saddek, El Shamieh Said, Démontant Vanessa, Condroyer Christel, Antonio Aline, Michiels Christelle, Boyard Fiona, Saraiva Jean-Paul, Letexier Mélanie, Sahel José-Alain, Zeitz Christina, Audo Isabel |
Stargardt disease: monitoring incidence and diagnostic trends in the Netherlands using a nationwide disease registry. Acta ophthalmologica 2021 8 100 (4): 395-402. Runhart Esmee H, Dhooge Patty, Meester-Smoor Magda, Pas Jeroen, Pott Jan Willem R, van Leeuwen Redmer, Kroes Hester Y, Bergen Arthur A, de Jong-Hesse Yvonne, Thiadens Alberta A, van Schooneveld Mary J, van Genderen Maria, Boon Camiel, Klaver Caroline, van den Born L Ingeborg, Cremers Frans P M, Hoyng Carel |
A five-year follow-up of ABCA4 carriers showing deterioration of retinal function and increased structural changes. Molecular vision 2022 11 28 300-316. Kjellström Ulrika, Andréasson St |
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- Page last updated:Apr 22, 2024
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