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Mutation- and tissue-specific alterations of RPGR transcripts.
Schmid F, Glaus E, Cremers FP, Kloeckener-Gruissem B, Berger W, Neidhardt J. Schmid F, et al. Among authors: berger w. Invest Ophthalmol Vis Sci. 2010 Mar;51(3):1628-35. doi: 10.1167/iovs.09-4031. Epub 2009 Oct 15. Invest Ophthalmol Vis Sci. 2010. PMID: 19834030 Free article.
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.
Glöckle N, Kohl S, Mohr J, Scheurenbrand T, Sprecher A, Weisschuh N, Bernd A, Rudolph G, Schubach M, Poloschek C, Zrenner E, Biskup S, Berger W, Wissinger B, Neidhardt J. Glöckle N, et al. Among authors: berger w. Eur J Hum Genet. 2014 Jan;22(1):99-104. doi: 10.1038/ejhg.2013.72. Epub 2013 Apr 17. Eur J Hum Genet. 2014. PMID: 23591405 Free PMC article.
Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.
Mackay DS, Borman AD, Sui R, van den Born LI, Berson EL, Ocaka LA, Davidson AE, Heckenlively JR, Branham K, Ren H, Lopez I, Maria M, Azam M, Henkes A, Blokland E, Qamar R, Webster AR, Cremers FPM, Moore AT, Koenekoop RK; [LCA5 Study Group (see acknowledgements for Universities); Andreasson S, de Baere E, Bennett J, Chader GJ, Berger W, Golovleva I, Greenberg J, den Hollander AI, Klaver CCW, Klevering BJ, Lorenz B, Preising MN, Ramsear R, Roberts L, Roepman R, Rohrschneider K, Wissinger B. Mackay DS, et al. Among authors: berger w. Hum Mutat. 2013 Nov;34(11):1537-1546. doi: 10.1002/humu.22398. Epub 2013 Sep 17. Hum Mutat. 2013. PMID: 23946133 Free PMC article.
C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations.
Gerth-Kahlert C, Tiwari A, Hanson JVM, Batmanabane V, Traboulsi E, Pennesi ME, Al-Qahtani AA, Lam BL, Heckenlively J, Zweifel SA, Vincent A, Fierz F, Barthelmes D, Branham K, Khan N, Bahr A, Baehr L, Magyar I, Koller S, Azzarello-Burri S, Niedrist D, Heon E, Berger W. Gerth-Kahlert C, et al. Among authors: berger w. Invest Ophthalmol Vis Sci. 2017 Aug 1;58(10):3840-3850. doi: 10.1167/iovs.17-21597. Invest Ophthalmol Vis Sci. 2017. PMID: 28763557 Free article.
1,146 results