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Page 1
The effect of light deprivation in patients with Stargardt disease.
Teussink MM, Lee MD, Smith RT, van Huet RA, Klaver CC, Klevering BJ, Theelen T, Hoyng CB. Teussink MM, et al. Among authors: van huet ra. Am J Ophthalmol. 2015 May;159(5):964-72.e2. doi: 10.1016/j.ajo.2015.02.004. Epub 2015 Feb 11. Am J Ophthalmol. 2015. PMID: 25681002
Central areolar choroidal dystrophy (CACD) and age-related macular degeneration (AMD): differentiating characteristics in multimodal imaging.
Smailhodzic D, Fleckenstein M, Theelen T, Boon CJ, van Huet RA, van de Ven JP, Den Hollander AI, Schmitz-Valckenberg S, Hoyng CB, Weber BH, Holz FG, Klevering BJ. Smailhodzic D, et al. Among authors: van de ven jp, van huet ra. Invest Ophthalmol Vis Sci. 2011 Nov 21;52(12):8908-18. doi: 10.1167/iovs.11-7926. Invest Ophthalmol Vis Sci. 2011. PMID: 22003107 Clinical Trial.
Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement.
Estrada-Cuzcano A, Neveling K, Kohl S, Banin E, Rotenstreich Y, Sharon D, Falik-Zaccai TC, Hipp S, Roepman R, Wissinger B, Letteboer SJ, Mans DA, Blokland EA, Kwint MP, Gijsen SJ, van Huet RA, Collin RW, Scheffer H, Veltman JA, Zrenner E; European Retinal Disease Consortium; den Hollander AI, Klevering BJ, Cremers FP. Estrada-Cuzcano A, et al. Among authors: van huet ra. Am J Hum Genet. 2012 Jan 13;90(1):102-9. doi: 10.1016/j.ajhg.2011.11.015. Epub 2011 Dec 15. Am J Hum Genet. 2012. PMID: 22177090 Free PMC article.
Next-generation genetic testing for retinitis pigmentosa.
Neveling K, Collin RW, Gilissen C, van Huet RA, Visser L, Kwint MP, Gijsen SJ, Zonneveld MN, Wieskamp N, de Ligt J, Siemiatkowska AM, Hoefsloot LH, Buckley MF, Kellner U, Branham KE, den Hollander AI, Hoischen A, Hoyng C, Klevering BJ, van den Born LI, Veltman JA, Cremers FP, Scheffer H. Neveling K, et al. Among authors: van den born li, van huet ra. Hum Mutat. 2012 Jun;33(6):963-72. doi: 10.1002/humu.22045. Epub 2012 Mar 19. Hum Mutat. 2012. PMID: 22334370 Free PMC article.
Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.
Nishiguchi KM, Avila-Fernandez A, van Huet RA, Corton M, Pérez-Carro R, Martín-Garrido E, López-Molina MI, Blanco-Kelly F, Hoefsloot LH, van Zelst-Stams WA, García-Ruiz PJ, Del Val J, Di Gioia SA, Klevering BJ, van de Warrenburg BP, Vazquez C, Cremers FP, García-Sandoval B, Hoyng CB, Collin RW, Rivolta C, Ayuso C. Nishiguchi KM, et al. Among authors: van huet ra, van de warrenburg bp, van zelst stams wa. Ophthalmology. 2014 Aug;121(8):1620-7. doi: 10.1016/j.ophtha.2014.02.008. Epub 2014 Mar 31. Ophthalmology. 2014. PMID: 24697911
IMPG2-associated retinitis pigmentosa displays relatively early macular involvement.
van Huet RA, Collin RW, Siemiatkowska AM, Klaver CC, Hoyng CB, Simonelli F, Khan MI, Qamar R, Banin E, Cremers FP, Theelen T, den Hollander AI, van den Born LI, Klevering BJ. van Huet RA, et al. Among authors: van den born li. Invest Ophthalmol Vis Sci. 2014 May 29;55(6):3939-53. doi: 10.1167/iovs.14-14129. Invest Ophthalmol Vis Sci. 2014. PMID: 24876279 Free article.
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.
Dominant cystoid macular dystrophy.
Saksens NT, van Huet RA, van Lith-Verhoeven JJ, den Hollander AI, Hoyng CB, Boon CJ. Saksens NT, et al. Among authors: van lith verhoeven jj, van huet ra. Ophthalmology. 2015 Jan;122(1):180-91. doi: 10.1016/j.ophtha.2014.07.053. Epub 2014 Sep 26. Ophthalmology. 2015. PMID: 25267528
25 results