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Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing.
Neidhardt J, Glaus E, Lorenz B, Netzer C, Li Y, Schambeck M, Wittmer M, Feil S, Kirschner-Schwabe R, Rosenberg T, Cremers FP, Bergen AA, Barthelmes D, Baraki H, Schmid F, Tanner G, Fleischhauer J, Orth U, Becker C, Wegscheider E, Nürnberg G, Nürnberg P, Bolz HJ, Gal A, Berger W. Neidhardt J, et al. Among authors: bergen aa. Mol Vis. 2008 Jun 6;14:1081-93. Mol Vis. 2008. PMID: 18552978 Free PMC article.
Positional cloning of the gene for X-linked retinitis pigmentosa 2.
Schwahn U, Lenzner S, Dong J, Feil S, Hinzmann B, van Duijnhoven G, Kirschner R, Hemberger M, Bergen AA, Rosenberg T, Pinckers AJ, Fundele R, Rosenthal A, Cremers FP, Ropers HH, Berger W. Schwahn U, et al. Among authors: bergen aa. Nat Genet. 1998 Aug;19(4):327-32. doi: 10.1038/1214. Nat Genet. 1998. PMID: 9697692
Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa.
Pierrache LH, Hartel BP, van Wijk E, Meester-Smoor MA, Cremers FP, de Baere E, de Zaeytijd J, van Schooneveld MJ, Cremers CW, Dagnelie G, Hoyng CB, Bergen AA, Leroy BP, Pennings RJ, van den Born LI, Klaver CC. Pierrache LH, et al. Among authors: bergen aa. Ophthalmology. 2016 May;123(5):1151-60. doi: 10.1016/j.ophtha.2016.01.021. Epub 2016 Feb 27. Ophthalmology. 2016. PMID: 26927203
Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases.
Reurink J, Dockery A, Oziębło D, Farrar GJ, Ołdak M, Ten Brink JB, Bergen AA, Rinne T, Yntema HG, Pennings RJE, van den Born LI, Aben M, Oostrik J, Venselaar H, Plomp AS, Khan MI, van Wijk E, Cremers FPM, Roosing S, Kremer H. Reurink J, et al. Among authors: bergen aa. Int J Mol Sci. 2021 Jun 15;22(12):6419. doi: 10.3390/ijms22126419. Int J Mol Sci. 2021. PMID: 34203967 Free PMC article.
Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12).
den Hollander AI, ten Brink JB, de Kok YJ, van Soest S, van den Born LI, van Driel MA, van de Pol DJ, Payne AM, Bhattacharya SS, Kellner U, Hoyng CB, Westerveld A, Brunner HG, Bleeker-Wagemakers EM, Deutman AF, Heckenlively JR, Cremers FP, Bergen AA. den Hollander AI, et al. Among authors: bergen aa. Nat Genet. 1999 Oct;23(2):217-21. doi: 10.1038/13848. Nat Genet. 1999. PMID: 10508521
The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in the RPGR Gene.
Talib M, van Schooneveld MJ, Van Cauwenbergh C, Wijnholds J, Ten Brink JB, Florijn RJ, Schalij-Delfos NE, Dagnelie G, van Genderen MM, De Baere E, Meester-Smoor MA, De Zaeytijd J, Cremers FPM, van den Born LI, Thiadens AA, Hoyng CB, Klaver CC, Leroy BP, Bergen AA, Boon CJF. Talib M, et al. Among authors: bergen aa. Invest Ophthalmol Vis Sci. 2018 Aug 1;59(10):4123-4133. doi: 10.1167/iovs.17-23453. Invest Ophthalmol Vis Sci. 2018. PMID: 30105367
217 results