Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

21 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Impaired ABCA1/ABCG1-mediated lipid efflux in the mouse retinal pigment epithelium (RPE) leads to retinal degeneration.
Storti F, Klee K, Todorova V, Steiner R, Othman A, van der Velde-Visser S, Samardzija M, Meneau I, Barben M, Karademir D, Pauzuolyte V, Boye SL, Blaser F, Ullmer C, Dunaief JL, Hornemann T, Rohrer L, den Hollander A, von Eckardstein A, Fingerle J, Maugeais C, Grimm C. Storti F, et al. Among authors: van der velde visser s. Elife. 2019 Mar 13;8:e45100. doi: 10.7554/eLife.45100. Elife. 2019. PMID: 30864945 Free PMC article.
CRB1 mutation spectrum in inherited retinal dystrophies.
den Hollander AI, Davis J, van der Velde-Visser SD, Zonneveld MN, Pierrottet CO, Koenekoop RK, Kellner U, van den Born LI, Heckenlively JR, Hoyng CB, Handford PA, Roepman R, Cremers FP. den Hollander AI, et al. Among authors: van der velde visser sd. Hum Mutat. 2004 Nov;24(5):355-69. doi: 10.1002/humu.20093. Hum Mutat. 2004. PMID: 15459956 Review.
The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants.
Runhart EH, Sangermano R, Cornelis SS, Verheij JBGM, Plomp AS, Boon CJF, Lugtenberg D, Roosing S, Bax NM, Blokland EAW, Jacobs-Camps MHM, van der Velde-Visser SD, Pott JR, Rohrschneider K, Thiadens AAHJ, Klaver CCW, van den Born LI, Hoyng CB, Cremers FPM. Runhart EH, et al. Among authors: van der velde visser sd. Invest Ophthalmol Vis Sci. 2018 Jul 2;59(8):3220-3231. doi: 10.1167/iovs.18-23881. Invest Ophthalmol Vis Sci. 2018. PMID: 29971439
Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene.
den Hollander AI, Heckenlively JR, van den Born LI, de Kok YJ, van der Velde-Visser SD, Kellner U, Jurklies B, van Schooneveld MJ, Blankenagel A, Rohrschneider K, Wissinger B, Cruysberg JR, Deutman AF, Brunner HG, Apfelstedt-Sylla E, Hoyng CB, Cremers FP. den Hollander AI, et al. Among authors: van der velde visser sd. Am J Hum Genet. 2001 Jul;69(1):198-203. doi: 10.1086/321263. Epub 2001 May 24. Am J Hum Genet. 2001. PMID: 11389483 Free PMC article.
Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants.
Mukhopadhyay A, Nikopoulos K, Maugeri A, de Brouwer AP, van Nouhuys CE, Boon CJ, Perveen R, Zegers HA, Wittebol-Post D, van den Biesen PR, van der Velde-Visser SD, Brunner HG, Black GC, Hoyng CB, Cremers FP. Mukhopadhyay A, et al. Among authors: van der velde visser sd. Invest Ophthalmol Vis Sci. 2006 Aug;47(8):3565-72. doi: 10.1167/iovs.06-0141. Invest Ophthalmol Vis Sci. 2006. PMID: 16877430
21 results