van den Born LI - Search Results

1

ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum.

Hu X, Plomp A, Wijnholds J, Ten Brink J, van Soest S, van den Born LI, Leys A, Peek R, de Jong PT, Bergen AA. Hu X, et al. Among authors: van den born li, van soest s. Eur J Hum Genet. 2003 Mar;11(3):215-24. doi: 10.1038/sj.ejhg.5200953. Eur J Hum Genet. 2003. PMID: 12673275

2

Real-World Safety and Effectiveness of Voretigene Neparvovec: Results up to 2 Years from the Prospective, Registry-Based PERCEIVE Study.

Fischer MD, Simonelli F, Sahni J, Holz FG, Maier R, Fasser C, Suhner A, Stiehl DP, Chen B, Audo I, Leroy BP; PERCEIVE Study Group. Fischer MD, et al. Biomolecules. 2024 Jan 17;14(1):122. doi: 10.3390/biom14010122. Biomolecules. 2024. PMID: 38254722 Free PMC article.

3

Multicentric Longitudinal Prospective Study in a European Cohort of MYO7A Patients: Disease Course and Implications for Gene Therapy.

Testa F, Carreño E, van den Born LI, Melillo P, Perea-Romero I, Di Iorio V, Risca G, Iodice CM, Pennings RJE, Karali M, Banfi S, Auricchio A, Galimberti S, Ayuso C, Simonelli F. Testa F, et al. Among authors: van den born li. Invest Ophthalmol Vis Sci. 2024 Jun 3;65(6):25. doi: 10.1167/iovs.65.6.25. Invest Ophthalmol Vis Sci. 2024. PMID: 38884554 Free PMC article.

4

Hereditary X-linked juvenile retinoschisis: a review of the role of Müller cells.

Mooy CM, Van Den Born LI, Baarsma S, Paridaens DA, Kraaijenbrink T, Bergen A, Weber BH. Mooy CM, et al. Among authors: van den born li. Arch Ophthalmol. 2002 Jul;120(7):979-84. Arch Ophthalmol. 2002. PMID: 12096974 No abstract available.

5

Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon.

van den Hurk JA, van de Pol DJ, Wissinger B, van Driel MA, Hoefsloot LH, de Wijs IJ, van den Born LI, Heckenlively JR, Brunner HG, Zrenner E, Ropers HH, Cremers FP. van den Hurk JA, et al. Among authors: van den born li, van de pol dj, van driel ma. Hum Genet. 2003 Aug;113(3):268-75. doi: 10.1007/s00439-003-0970-0. Epub 2003 Jun 25. Hum Genet. 2003. PMID: 12827496

6

Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa.

Klevering BJ, Yzer S, Rohrschneider K, Zonneveld M, Allikmets R, van den Born LI, Maugeri A, Hoyng CB, Cremers FP. Klevering BJ, et al. Among authors: van den born li. Eur J Hum Genet. 2004 Dec;12(12):1024-32. doi: 10.1038/sj.ejhg.5201258. Eur J Hum Genet. 2004. PMID: 15494742

7

Clinical course of cone dystrophy caused by mutations in the RPGR gene.

Thiadens AA, Soerjoesing GG, Florijn RJ, Tjiam AG, den Hollander AI, van den Born LI, Riemslag FC, Bergen AA, Klaver CC. Thiadens AA, et al. Among authors: den hollander ai, van den born li. Graefes Arch Clin Exp Ophthalmol. 2011 Oct;249(10):1527-35. doi: 10.1007/s00417-011-1789-3. Epub 2011 Aug 25. Graefes Arch Clin Exp Ophthalmol. 2011. PMID: 21866333 Free PMC article.

8

Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy.

Thiadens AA, Phan TM, Zekveld-Vroon RC, Leroy BP, van den Born LI, Hoyng CB, Klaver CC; Writing Committee for the Cone Disorders Study Group Consortium; Roosing S, Pott JW, van Schooneveld MJ, van Moll-Ramirez N, van Genderen MM, Boon CJ, den Hollander AI, Bergen AA, De Baere E, Cremers FP, Lotery AJ. Thiadens AA, et al. Among authors: van genderen mm, den hollander ai, van schooneveld mj, van den born li, van moll ramirez n. Ophthalmology. 2012 Apr;119(4):819-26. doi: 10.1016/j.ophtha.2011.10.011. Epub 2012 Jan 20. Ophthalmology. 2012. PMID: 22264887

9

Autosomal recessive bestrophinopathy: differential diagnosis and treatment options.

Boon CJ, van den Born LI, Visser L, Keunen JE, Bergen AA, Booij JC, Riemslag FC, Florijn RJ, van Schooneveld MJ. Boon CJ, et al. Among authors: van schooneveld mj, van den born li. Ophthalmology. 2013 Apr;120(4):809-20. doi: 10.1016/j.ophtha.2012.09.057. Epub 2013 Jan 3. Ophthalmology. 2013. PMID: 23290749

10

Genotype and phenotype of 101 dutch patients with congenital stationary night blindness.

Bijveld MM, Florijn RJ, Bergen AA, van den Born LI, Kamermans M, Prick L, Riemslag FC, van Schooneveld MJ, Kappers AM, van Genderen MM. Bijveld MM, et al. Among authors: van genderen mm, van schooneveld mj, van den born li. Ophthalmology. 2013 Oct;120(10):2072-81. doi: 10.1016/j.ophtha.2013.03.002. Epub 2013 May 25. Ophthalmology. 2013. PMID: 23714322

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