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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Sep 7, 2024. (Total: 231234Documents)
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Query Trace: Retinitis Pigmentosa and BBS1[original query]
BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome.
Archives of ophthalmology (Chicago, Ill. : 1960) 2012 Nov 130 (11): 1425-32.
Estrada-Cuzcano Alejandro, Koenekoop Robert K, Senechal Audrey, De Baere Elfride B W, de Ravel Thomy, Banfi Sandro, Kohl Susanne, Ayuso Carmen, Sharon Dror, Hoyng Carel B, Hamel Christian P, Leroy Bart P, Ziviello Carmela, Lopez Irma, Bazinet Alexandre, Wissinger Bernd, Sliesoraityte Ieva, Avila-Fernandez Almudena, Littink Karin W, Vingolo Enzo M, Signorini Sabrina, Banin Eyal, Mizrahi-Meissonnier Liliana, Zrenner Eberhard, Kellner Ulrich, Collin Rob W J, den Hollander Anneke I, Cremers Frans P M, Klevering B Jero
A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome.
Clinical genetics 2020 Nov .
Delvallée Clarisse, Nicaise Samuel, Antin Manuela, Leuvrey Anne-Sophie, Nourisson Elsa, Leitch Carmen C, Kellaris Georgios, Stoetzel Corinne, Geoffroy Véronique, Scheidecker Sophie, Keren Boris, Depienne Christel, Klar Joakim, Dahl Niklas, Deleuze Jean-François, Génin Emmanuelle, Redon Richard, Demurger Florence, Devriendt Koenraad, Mathieu-Dramard Michèle, Poitou-Bernert Christine, Odent Sylvie, Katsanis Nicholas, Mandel Jean-Louis, Davis Erica E, Dollfus Hélène, Muller Je
Spectrum of pathogenic variants and high prevalence of pathogenic BBS7 variants in Russian patients with Bardet-Biedl syndrome.
Frontiers in genetics 2024 8 15 1419025.
M Orlova, P Gundorova, V Kadnikova, A Polyak
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