A Nonsense Mutation in PDE6H Causes Autosomal-Recessive Incomplete Achromatopsia
Kohl, Susanne, Coppieters, Frauke, Meire, Françoise, Schaich, Simone, Roosing, Susanne, Brennenstuhl, Christina, Bolz, Sylvia, van Genderen, Maria M., Riemslag, Frans C.C., Lukowski, Robert, den Hollander, Anneke I., Cremers, Frans P.M., De Baere, Elfride, Hoyng, Carel B., Wissinger, Bernd
Published in American journal of human genetics (07.09.2012)
Published in American journal of human genetics (07.09.2012)
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Mutations in TRPM1 Are a Common Cause of Complete Congenital Stationary Night Blindness
van Genderen, Maria M., Bijveld, Mieke M.C., Claassen, Yvonne B., Florijn, Ralph J., Pearring, Jillian N., Meire, Francoise M., McCall, Maureen A., Riemslag, Frans C.C., Gregg, Ronald G., Bergen, Arthur A.B., Kamermans, Maarten
Published in American journal of human genetics (13.11.2009)
Published in American journal of human genetics (13.11.2009)
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Journal Article
Nonpenetrance of the most frequent autosomal recessive leber congenital amaurosis mutation in NMNAT1
Siemiatkowska, Anna M, Schuurs-Hoeijmakers, Janneke H M, Bosch, Danielle G M, Boonstra, F Nienke, Riemslag, Frans C C, Ruiter, Mariken, de Vries, Bert B A, den Hollander, Anneke I, Collin, Rob W J, Cremers, Frans P M
Published in JAMA ophthalmology (01.08.2014)
Published in JAMA ophthalmology (01.08.2014)
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Journal Article
A Homozygous Frameshift Mutation in LRAT Causes Retinitis Punctata Albescens
Littink, Karin W., MD, PhD, van Genderen, Maria M., MD, PhD, van Schooneveld, Mary J., MD, PhD, Visser, Linda, MD, Riemslag, Frans C.C., PhD, Keunen, Jan E.E., MD, PhD, Bakker, Bjorn, BSc, Zonneveld, Marijke N., BSc, den Hollander, Anneke I., PhD, Cremers, Frans P.M., PhD, van den Born, L. Ingeborgh, MD, PhD
Published in Ophthalmology (Rochester, Minn.) (01.09.2012)
Published in Ophthalmology (Rochester, Minn.) (01.09.2012)
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Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome
Littink, Karin W, Stappers, Patricia T Y, Riemslag, Frans C C, Talsma, Herman E, van Genderen, Maria M, Cremers, Frans P M, Collin, Rob W J, van den Born, L Ingeborgh
Published in Genes (30.01.2018)
Published in Genes (30.01.2018)
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Clinical course of cone dystrophy caused by mutations in the RPGR gene
Thiadens, Alberta A. H. J., Soerjoesing, Gyan G., Florijn, Ralph J., Tjiam, A. G., den Hollander, Anneke I., van den Born, L. Ingeborgh, Riemslag, Frans C., Bergen, Arthur A. B., Klaver, Caroline C. W.
Published in Graefe's archive for clinical and experimental ophthalmology (01.10.2011)
Published in Graefe's archive for clinical and experimental ophthalmology (01.10.2011)
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A Rare Form of Retinal Dystrophy Caused by Hypomorphic Nonsense Mutations in CEP290
Roosing, Susanne, Cremers, Frans P M, Riemslag, Frans C C, Zonneveld-Vrieling, Marijke N, Talsma, Herman E, Klessens-Godfroy, Francoise J M, den Hollander, Anneke I, van den Born, L Ingeborgh
Published in Genes (22.08.2017)
Published in Genes (22.08.2017)
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Journal Article
Ultrastructural localization of GPR179 and the impact of mutant forms on retinal function in CSNB1 patients and a mouse model
Klooster, Jan, van Genderen, Maria M, Yu, Minzhong, Florijn, Ralph J, Riemslag, Frans C C, Bergen, Arthur A B, Gregg, Ronald G, Peachey, Neal S, Kamermans, Maarten
Published in Investigative ophthalmology & visual science (23.10.2013)
Published in Investigative ophthalmology & visual science (23.10.2013)
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An extended 15 Hz ERG protocol (1): the contributions of primary and secondary rod pathways and the cone pathway
Bijveld, Mieke M. C., Kappers, Astrid M. L., Riemslag, Frans C. C., Hoeben, Frank P., Vrijling, Anne C. L., van Genderen, Maria M.
Published in Documenta ophthalmologica (01.12.2011)
Published in Documenta ophthalmologica (01.12.2011)
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An extended 15 Hz ERG protocol (2): data of normal subjects and patients with achromatopsia, CSNB1, and CSNB2
Bijveld, Mieke M. C., Riemslag, Frans C. C., Kappers, Astrid M. L., Hoeben, Frank P., van Genderen, Maria M.
Published in Documenta ophthalmologica (01.12.2011)
Published in Documenta ophthalmologica (01.12.2011)
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Journal Article
Autosomal recessive bestrophinopathy: differential diagnosis and treatment options
Boon, Camiel J F, van den Born, L Ingeborgh, Visser, Linda, Keunen, Jan E E, Bergen, Arthur A B, Booij, Judith C, Riemslag, Frans C, Florijn, Ralph J, van Schooneveld, Mary J
Published in Ophthalmology (Rochester, Minn.) (01.04.2013)
Published in Ophthalmology (Rochester, Minn.) (01.04.2013)
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Journal Article
Genotype and Phenotype of 101 Dutch Patients with Congenital Stationary Night Blindness
Bijveld, Mieke M.C., MSc, Florijn, Ralph J., PhD, Bergen, Arthur A.B., PhD, van den Born, L. Ingeborgh, MD, PhD, Kamermans, Maarten, PhD, Prick, Liesbeth, MD, PhD, Riemslag, Frans C.C., PhD, van Schooneveld, Mary J., MD, PhD, Kappers, Astrid M.L., PhD, van Genderen, Maria M., MD, PhD
Published in Ophthalmology (Rochester, Minn.) (01.10.2013)
Published in Ophthalmology (Rochester, Minn.) (01.10.2013)
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A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14
Klaver, Caroline C W, Solouki, Abbas M, Verhoeven, Virginie J M, van Duijn, Cornelia M, Verkerk, Annemieke J M H, Ikram, M Kamran, Hysi, Pirro G, Despriet, Dominiek D G, van Koolwijk, Leonieke M, Ho, Lintje, Ramdas, Wishal D, Czudowska, Monika, Kuijpers, Robert W A M, Amin, Najaf, Struchalin, Maksim, Aulchenko, Yurii S, van Rij, Gabriel, Riemslag, Frans C C, Young, Terri L, Mackey, David A, Spector, Timothy D, Gorgels, Theo G M F, Willemse-Assink, Jacqueline J M, Isaacs, Aaron, Kramer, Rogier, Swagemakers, Sigrid M A, Bergen, Arthur A B, van Oosterhout, Andy A L J, Oostra, Ben A, Rivadeneira, Fernando, Uitterlinden, André G, Hofman, Albert, de Jong, Paulus T V M, Hammond, Christopher J, Vingerling, Johannes R
Published in Nature genetics (01.10.2010)
Published in Nature genetics (01.10.2010)
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Maternal Uniparental Isodisomy of Chromosome 6 Reveals a TULP1 Mutation as a Novel Cause of Cone Dysfunction
Roosing, Susanne, BSc, van den Born, L. Ingeborgh, MD, PhD, Hoyng, Carel B., MD, PhD, Thiadens, Alberta A.H.J., MD, PhD, de Baere, Elfride, MD, PhD, Collin, Rob W.J., PhD, Koenekoop, Robert K., MD, PhD, Leroy, Bart P., MD, PhD, van Moll-Ramirez, Norka, MD, Venselaar, Hanka, PhD, Riemslag, Frans C.C., PhD, Cremers, Frans P.M., PhD, Klaver, Caroline C.W., MD, PhD, den Hollander, Anneke I., PhD
Published in Ophthalmology (Rochester, Minn.) (01.06.2013)
Published in Ophthalmology (Rochester, Minn.) (01.06.2013)
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Journal Article
Cone-rod dystrophy can be a manifestation of Danon disease
Thiadens, Alberta A. H. J., Slingerland, Niki W. R., Florijn, Ralph J., Visser, Gerhard H., Riemslag, Frans C., Klaver, Caroline C. W.
Published in Graefe's archive for clinical and experimental ophthalmology (01.05.2012)
Published in Graefe's archive for clinical and experimental ophthalmology (01.05.2012)
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Journal Article
Autosomal Recessive Bestrophinopathy
Boon, Camiel J.F., MD, PhD, van den Born, L. Ingeborgh, MD, PhD, Visser, Linda, MD, Keunen, Jan E.E., MD, PhD, Bergen, Arthur A.B., PhD, Booij, Judith C., MD, PhD, Riemslag, Frans C., PhD, Florijn, Ralph J., PhD, van Schooneveld, Mary J., MD, PhD
Published in Ophthalmology (Rochester, Minn.) (01.04.2013)
Published in Ophthalmology (Rochester, Minn.) (01.04.2013)
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