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Page 1
Foveal sparing in Stargardt disease.
van Huet RA, Bax NM, Westeneng-Van Haaften SC, Muhamad M, Zonneveld-Vrieling MN, Hoefsloot LH, Cremers FP, Boon CJ, Klevering BJ, Hoyng CB. van Huet RA, et al. Among authors: bax nm. Invest Ophthalmol Vis Sci. 2014 Oct 16;55(11):7467-78. doi: 10.1167/iovs.13-13825. Invest Ophthalmol Vis Sci. 2014. PMID: 25324290
Heterozygous deep-intronic variants and deletions in ABCA4 in persons with retinal dystrophies and one exonic ABCA4 variant.
Bax NM, Sangermano R, Roosing S, Thiadens AA, Hoefsloot LH, van den Born LI, Phan M, Klevering BJ, Westeneng-van Haaften C, Braun TA, Zonneveld-Vrieling MN, de Wijs I, Mutlu M, Stone EM, den Hollander AI, Klaver CC, Hoyng CB, Cremers FP. Bax NM, et al. Hum Mutat. 2015 Jan;36(1):43-7. doi: 10.1002/humu.22717. Hum Mutat. 2015. PMID: 25363634
Early-onset stargardt disease: phenotypic and genotypic characteristics.
Lambertus S, van Huet RA, Bax NM, Hoefsloot LH, Cremers FP, Boon CJ, Klevering BJ, Hoyng CB. Lambertus S, et al. Among authors: bax nm. Ophthalmology. 2015 Feb;122(2):335-44. doi: 10.1016/j.ophtha.2014.08.032. Epub 2014 Oct 17. Ophthalmology. 2015. PMID: 25444351
Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT).
Haer-Wigman L, Newman H, Leibu R, Bax NM, Baris HN, Rizel L, Banin E, Massarweh A, Roosing S, Lefeber DJ, Zonneveld-Vrieling MN, Isakov O, Shomron N, Sharon D, Den Hollander AI, Hoyng CB, Cremers FP, Ben-Yosef T. Haer-Wigman L, et al. Among authors: bax nm. Hum Mol Genet. 2015 Jul 1;24(13):3742-51. doi: 10.1093/hmg/ddv118. Epub 2015 Apr 9. Hum Mol Genet. 2015. PMID: 25859010 Free PMC article.
Photoreceptor Progenitor mRNA Analysis Reveals Exon Skipping Resulting from the ABCA4 c.5461-10T→C Mutation in Stargardt Disease.
Sangermano R, Bax NM, Bauwens M, van den Born LI, De Baere E, Garanto A, Collin RW, Goercharn-Ramlal AS, den Engelsman-van Dijk AH, Rohrschneider K, Hoyng CB, Cremers FP, Albert S. Sangermano R, et al. Among authors: bax nm. Ophthalmology. 2016 Jun;123(6):1375-85. doi: 10.1016/j.ophtha.2016.01.053. Epub 2016 Mar 12. Ophthalmology. 2016. PMID: 26976702
Progression of Late-Onset Stargardt Disease.
Lambertus S, Lindner M, Bax NM, Mauschitz MM, Nadal J, Schmid M, Schmitz-Valckenberg S, den Hollander AI, Weber BH, Holz FG, van der Wilt GJ, Fleckenstein M, Hoyng CB; Foveal sparing Atrophy Study Team (FAST). Lambertus S, et al. Among authors: bax nm. Invest Ophthalmol Vis Sci. 2016 Oct 1;57(13):5186-5191. doi: 10.1167/iovs.16-19833. Invest Ophthalmol Vis Sci. 2016. PMID: 27699414 Clinical Trial.
Asymmetric Inter-Eye Progression in Stargardt Disease.
Lambertus S, Bax NM, Groenewoud JM, Cremers FP, van der Wilt GJ, Klevering BJ, Theelen T, Hoyng CB. Lambertus S, et al. Among authors: bax nm. Invest Ophthalmol Vis Sci. 2016 Dec 1;57(15):6824-6830. doi: 10.1167/iovs.16-20963. Invest Ophthalmol Vis Sci. 2016. PMID: 28002570
Differential Disease Progression in Atrophic Age-Related Macular Degeneration and Late-Onset Stargardt Disease.
Lindner M, Lambertus S, Mauschitz MM, Bax NM, Kersten E, Lüning A, Nadal J, Schmitz-Valckenberg S, Schmid M, Holz FG, Hoyng CB, Fleckenstein M; Foveal sparing Atrophy Study Team (FAST). Lindner M, et al. Among authors: bax nm. Invest Ophthalmol Vis Sci. 2017 Feb 1;58(2):1001-1007. doi: 10.1167/iovs.16-20980. Invest Ophthalmol Vis Sci. 2017. PMID: 28288486
136 results