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341 results

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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: bertelsen m. Mol Vis. 2014 Jun 2;20:753-9. eCollection 2014. Mol Vis. 2014. PMID: 24940029 Free PMC article.
Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic c.2991+1655A>G Mutation in CEP290.
Valkenburg D, van Cauwenbergh C, Lorenz B, van Genderen MM, Bertelsen M, Pott JR, Coppieters F, de Zaeytijd J, Thiadens AAHJ, Klaver CCW, Kroes HY, van Schooneveld MJ, Preising M, Hoyng CB, Leroy BP, van den Born LI, Collin RWJ. Valkenburg D, et al. Among authors: bertelsen m. Invest Ophthalmol Vis Sci. 2018 Sep 4;59(11):4384-4391. doi: 10.1167/iovs.18-24817. Invest Ophthalmol Vis Sci. 2018. PMID: 30193310
The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene.
Chung DC, Bertelsen M, Lorenz B, Pennesi ME, Leroy BP, Hamel CP, Pierce E, Sallum J, Larsen M, Stieger K, Preising M, Weleber R, Yang P, Place E, Liu E, Schaefer G, DiStefano-Pappas J, Elci OU, McCague S, Wellman JA, High KA, Reape KZ. Chung DC, et al. Among authors: bertelsen m. Am J Ophthalmol. 2019 Mar;199:58-70. doi: 10.1016/j.ajo.2018.09.024. Epub 2018 Sep 28. Am J Ophthalmol. 2019. PMID: 30268864 Free PMC article.
Prevalence of generalized retinal dystrophy in Denmark.
Bertelsen M, Jensen H, Bregnhøj JF, Rosenberg T. Bertelsen M, et al. Ophthalmic Epidemiol. 2014 Aug;21(4):217-23. doi: 10.3109/09286586.2014.929710. Epub 2014 Jun 25. Ophthalmic Epidemiol. 2014. PMID: 24963760
Analysis of the ABCA4 genomic locus in Stargardt disease.
Zernant J, Xie YA, Ayuso C, Riveiro-Alvarez R, Lopez-Martinez MA, Simonelli F, Testa F, Gorin MB, Strom SP, Bertelsen M, Rosenberg T, Boone PM, Yuan B, Ayyagari R, Nagy PL, Tsang SH, Gouras P, Collison FT, Lupski JR, Fishman GA, Allikmets R. Zernant J, et al. Among authors: bertelsen m. Hum Mol Genet. 2014 Dec 20;23(25):6797-806. doi: 10.1093/hmg/ddu396. Epub 2014 Jul 31. Hum Mol Genet. 2014. PMID: 25082829 Free PMC article.
[New treatments of hereditary blindness].
Bertelsen M, Rosenberg T, Larsen M. Bertelsen M, et al. Ugeskr Laeger. 2013 Sep 2;175(36):2038-42. Ugeskr Laeger. 2013. PMID: 23992912 Review. Danish.
341 results