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Page 1
Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis.
Siemiatkowska AM, van den Born LI, van Genderen MM, Bertelsen M, Zobor D, Rohrschneider K, van Huet RA, Nurohmah S, Klevering BJ, Kohl S, Faradz SM, Rosenberg T, den Hollander AI, Collin RW, Cremers FP. Siemiatkowska AM, et al. Among authors: van genderen mm, van den born li, van huet ra. Mol Vis. 2014 Jun 2;20:753-9. eCollection 2014. Mol Vis. 2014. PMID: 24940029 Free PMC article.
A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population.
Yzer S, van den Born LI, Schuil J, Kroes HY, van Genderen MM, Boonstra FN, van den Helm B, Brunner HG, Koenekoop RK, Cremers FP. Yzer S, et al. Among authors: van genderen mm, van den born li, van den helm b. J Med Genet. 2003 Sep;40(9):709-13. doi: 10.1136/jmg.40.9.709. J Med Genet. 2003. PMID: 12960219 Free PMC article. No abstract available.
Letter to the editor.
Pilon F, Veen H, Kef S, van Genderen MM. Pilon F, et al. Among authors: van genderen mm. Strabismus. 2020 Sep;28(3):173. doi: 10.1080/09273972.2020.1802182. Epub 2020 Aug 19. Strabismus. 2020. PMID: 32813607 No abstract available.
Genotypic and Phenotypic Characteristics of CRB1-Associated Retinal Dystrophies: A Long-Term Follow-up Study.
Talib M, van Schooneveld MJ, van Genderen MM, Wijnholds J, Florijn RJ, Ten Brink JB, Schalij-Delfos NE, Dagnelie G, Cremers FPM, Wolterbeek R, Fiocco M, Thiadens AA, Hoyng CB, Klaver CC, Bergen AA, Boon CJF. Talib M, et al. Among authors: van genderen mm, van schooneveld mj. Ophthalmology. 2017 Jun;124(6):884-895. doi: 10.1016/j.ophtha.2017.01.047. Epub 2017 Mar 21. Ophthalmology. 2017. PMID: 28341475
CLINICAL AND GENETIC CHARACTERISTICS OF MALE PATIENTS WITH RPGR-ASSOCIATED RETINAL DYSTROPHIES: A Long-Term Follow-up Study.
Talib M, van Schooneveld MJ, Thiadens AA, Fiocco M, Wijnholds J, Florijn RJ, Schalij-Delfos NE, van Genderen MM, Putter H, Cremers FPM, Dagnelie G, Ten Brink JB, Klaver CCW, van den Born LI, Hoyng CB, Bergen AA, Boon CJF. Talib M, et al. Among authors: van genderen mm, van schooneveld mj, van den born li. Retina. 2019 Jun;39(6):1186-1199. doi: 10.1097/IAE.0000000000002125. Retina. 2019. PMID: 29528978
The Phenotypic Spectrum of Albinism.
Kruijt CC, de Wit GC, Bergen AA, Florijn RJ, Schalij-Delfos NE, van Genderen MM. Kruijt CC, et al. Among authors: van genderen mm. Ophthalmology. 2018 Dec;125(12):1953-1960. doi: 10.1016/j.ophtha.2018.08.003. Epub 2018 Aug 8. Ophthalmology. 2018. PMID: 30098354
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: van genderen mm, van schooneveld mj, van den born li, van cauwenbergh c. Invest Ophthalmol Vis Sci. 2018 Aug 1;59(10):4123-4133. doi: 10.1167/iovs.17-23453. Invest Ophthalmol Vis Sci. 2018. PMID: 30105367
86 results