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Page 1
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.
Solaki M, Baumann B, Reuter P, Andreasson S, Audo I, Ayuso C, Balousha G, Benedicenti F, Birch D, Bitoun P, Blain D, Bocquet B, Branham K, Català-Mora J, De Baere E, Dollfus H, Falana M, Giorda R, Golovleva I, Gottlob I, Heckenlively JR, Jacobson SG, Jones K, Jägle H, Janecke AR, Kellner U, Liskova P, Lorenz B, Martorell-Sampol L, Messias A, Meunier I, Belga Ottoni Porto F, Papageorgiou E, Plomp AS, de Ravel TJL, Reiff CM, Renner AB, Rosenberg T, Rudolph G, Salati R, Sener EC, Sieving PA, Stanzial F, Traboulsi EI, Tsang SH, Varsanyi B, Weleber RG, Zobor D, Stingl K, Wissinger B, Kohl S. Solaki M, et al. Among authors: rudolph g. Hum Mutat. 2022 Jul;43(7):832-858. doi: 10.1002/humu.24371. Epub 2022 Apr 14. Hum Mutat. 2022. PMID: 35332618 Review.
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.
Kohl S, Varsanyi B, Antunes GA, Baumann B, Hoyng CB, Jägle H, Rosenberg T, Kellner U, Lorenz B, Salati R, Jurklies B, Farkas A, Andreasson S, Weleber RG, Jacobson SG, Rudolph G, Castellan C, Dollfus H, Legius E, Anastasi M, Bitoun P, Lev D, Sieving PA, Munier FL, Zrenner E, Sharpe LT, Cremers FP, Wissinger B. Kohl S, et al. Among authors: rudolph g. Eur J Hum Genet. 2005 Mar;13(3):302-8. doi: 10.1038/sj.ejhg.5201269. Eur J Hum Genet. 2005. PMID: 15657609
The Clinical Phenotype of CNGA3-Related Achromatopsia: Pretreatment Characterization in Preparation of a Gene Replacement Therapy Trial.
Zobor D, Werner A, Stanzial F, Benedicenti F, Rudolph G, Kellner U, Hamel C, Andréasson S, Zobor G, Strasser T, Wissinger B, Kohl S, Zrenner E; RD-CURE Consortium. Zobor D, et al. Among authors: rudolph g. Invest Ophthalmol Vis Sci. 2017 Feb 1;58(2):821-832. doi: 10.1167/iovs.16-20427. Invest Ophthalmol Vis Sci. 2017. PMID: 28159970
Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel-associated retinopathy.
Burkard M, Kohl S, Krätzig T, Tanimoto N, Brennenstuhl C, Bausch AE, Junger K, Reuter P, Sothilingam V, Beck SC, Huber G, Ding XQ, Mayer AK, Baumann B, Weisschuh N, Zobor D, Hahn GA, Kellner U, Venturelli S, Becirovic E, Charbel Issa P, Koenekoop RK, Rudolph G, Heckenlively J, Sieving P, Weleber RG, Hamel C, Zong X, Biel M, Lukowski R, Seeliger MW, Michalakis S, Wissinger B, Ruth P. Burkard M, et al. Among authors: rudolph g. J Clin Invest. 2018 Dec 3;128(12):5663-5675. doi: 10.1172/JCI96098. Epub 2018 Nov 12. J Clin Invest. 2018. PMID: 30418171 Free PMC article.
Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation.
Weisschuh N, Sturm M, Baumann B, Audo I, Ayuso C, Bocquet B, Branham K, Brooks BP, Catalá-Mora J, Giorda R, Heckenlively JR, Hufnagel RB, Jacobson SG, Kellner U, Kitsiou-Tzeli S, Matet A, Martorell Sampol L, Meunier I, Rudolph G, Sharon D, Stingl K, Streubel B, Varsányi B, Wissinger B, Kohl S. Weisschuh N, et al. Among authors: rudolph g. Hum Mutat. 2020 Jan;41(1):255-264. doi: 10.1002/humu.23920. Epub 2019 Sep 30. Hum Mutat. 2020. PMID: 31544997 Free PMC article.
ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies.
Kitiratschky VB, Grau T, Bernd A, Zrenner E, Jägle H, Renner AB, Kellner U, Rudolph G, Jacobson SG, Cideciyan AV, Schaich S, Kohl S, Wissinger B. Kitiratschky VB, et al. Among authors: rudolph g. Eur J Hum Genet. 2008 Jul;16(7):812-9. doi: 10.1038/ejhg.2008.23. Epub 2008 Feb 20. Eur J Hum Genet. 2008. PMID: 18285826 Free PMC article.
Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia.
Kohl S, Zobor D, Chiang WC, Weisschuh N, Staller J, Gonzalez Menendez I, Chang S, Beck SC, Garcia Garrido M, Sothilingam V, Seeliger MW, Stanzial F, Benedicenti F, Inzana F, Héon E, Vincent A, Beis J, Strom TM, Rudolph G, Roosing S, Hollander AI, Cremers FP, Lopez I, Ren H, Moore AT, Webster AR, Michaelides M, Koenekoop RK, Zrenner E, Kaufman RJ, Tsang SH, Wissinger B, Lin JH. Kohl S, et al. Among authors: rudolph g. Nat Genet. 2015 Jul;47(7):757-65. doi: 10.1038/ng.3319. Epub 2015 Jun 1. Nat Genet. 2015. PMID: 26029869 Free PMC article.
Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.
Weisschuh N, Mayer AK, Strom TM, Kohl S, Glöckle N, Schubach M, Andreasson S, Bernd A, Birch DG, Hamel CP, Heckenlively JR, Jacobson SG, Kamme C, Kellner U, Kunstmann E, Maffei P, Reiff CM, Rohrschneider K, Rosenberg T, Rudolph G, Vámos R, Varsányi B, Weleber RG, Wissinger B. Weisschuh N, et al. Among authors: rudolph g. PLoS One. 2016 Jan 14;11(1):e0145951. doi: 10.1371/journal.pone.0145951. eCollection 2016. PLoS One. 2016. PMID: 26766544 Free PMC article.
331 results