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mutation patient complement factor age-related macular degeneration protein macular variant degeneration disease complement factor h age-related study ophthalmol family function drusen analysis proband photoreceptor uremic syndrome phenotype genet acuity syndrome netherland activation region factor h response domain glomerulonephriti pathway achromatopsia dystrophy figure tyr 402his variant result vision 2007. channel c órdoba identi fied membrane 2008. stichting missense plasma 402hi radboud university nijmegen identi foveal cnga 3 uremic rotterdam eye hospital immunol cngb 3 gene centre nijmegen cfh mutations 2006. fundu complement activation zipfel disorder residue polymorphism cngb 3 deposit impg 2 cabp 4 night blindness retina color genotype association appearance control rotterdam table
9 Most Recent Publications
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Progressive loss of cones in achromatopsia: An imaging study using spectral-domain optical coherence tomography
(Article)
Thiadens, A.A.H.J. Somervuo, V. Born, L.I. van den Roosing, S. Schooneveld, M.J. van Kuijpers, R.W.A.M. Moll-Ramirez, N. van Cremers, F.P.M. Hoyng, C. Klaver, C.C.W. |
2010-11-01
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Mutations in IMPG2, Encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa
(Article)
Bandah-Rozenfeld, D. Collin, R.W.J. Testa, F. Simonelli, F. Voesenek, K. Blokland, E.A.W. Strom, T.M. Klaver, C.C.W. Qamar, R. Banfi, S. Cremers, F.P.M. Sharon, D. Banin, E. Hollander, A.I. Ingeborgh van den Born, L. Coene, K.L.M. Siemiatkowska, A.M. Zelinger, L. Khan, M.I. Lefeber, D.J. Erdinest, I. |
2010-08-01
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A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype
(Article)
Littink, K.W. Pott, J.W.R. Rohrschneider, K. Cremers, F.P.M. Ingeborgh van den Born, L. Hollander, A.I. Collin, R.W.J. Kroes, H.Y. Verheij, J.B. Blokland, E.A.W. Miró, M.C. Hoyng, C. Klaver, C.C.W. Koenekoop, R.K. |
2010-07-01
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Comprehensive Analysis of the Achromatopsia Genes CNGA3 and CNGB3 in Progressive Cone Dystrophy
(Article)
Thiadens, A.A.H.J. Roosing, S. Klaver, C.C.W. Collin, R.W.J. Moll-Ramirez, N. van Lith-Verhoeven, J.J.C. van Schooneveld, M.J. Hollander, A.I. Born, L.I. van den Hoyng, C. Cremers, F.P.M. |
2010-04-01
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A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder
(Article)
Littink, K.W. Genderen, M.M. van Hollander, A.I. Cremers, F.P.M. Born, L.I. van den Collin, R.W.J. Roosing, S. Brouwer, A.P.M. de Riemslag, F.C.C. Venselaar, H. Thiadens, A.A.H.J. Hoyng, C. Rohrschneider, K. |
2009-12-01
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Genetic Etiology and Clinical Consequences of Complete and Incomplete Achromatopsia
(Article)
Thiadens, A.A.H.J. Slingerland, N.W.R. Roosing, S. Schooneveld, M.J. van Lith-Verhoeven, J.J.C. van Moll-Ramirez, N. van Born, L.I. van den Hoyng, C. Cremers, F.P.M. Klaver, C.C.W. |
2009-10-01
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Homozygosity Mapping Reveals PDE6C Mutations in Patients with Early-Onset Cone Photoreceptor Disorders
(Article)
Thiadens, A.A.H.J. Hollander, A.I. Lith-Verhoeven, J.J.C. van Lotery, A.J. Moll-Ramirez, N. van Leroy, B.P. Born, L.I. van den Hoyng, C. Cremers, F.P.M. Klaver, C.C.W. Roosing, S. Nabuurs, S.B. Zekveld-Vroon, R.C. Collin, R.W.J. Baere, E. de Koenekoop, R.K. Schooneveld, M.J. Strom, T.M. |
2009-08-14
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The spectrum of phenotypes caused by variants in the CFH gene
(Article)
Boon, C.J.F. Kar, N.C. van de Klevering, B.J. Keunen, J.E.E. Cremers, F.P.M. Klaver, C.C.W. Hoyng, C. Daha, M.R. Hollander, A.I. |
2009-05-01
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L1 retrotransposition can occur early in human embryonic development
(Article)
Hurk, J.A.J.M. van den Meij, I.C. Jong, P.T.V.M. de Kazazian, H.H. Cremers, F.P.M. Carmen Seleme, M. del Kano, H. Nikopoulos, K. Hoefsloot, L.H. Sistermans, E.A. Wijs, I.J. de Mukhopadhyay, A. Plomp, A. |
2007-07-01
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