Ultrastructural Localization of GPR179 and the Impact of Mutant Forms on Retinal Function in CSNB1 Patients and a Mouse Model

Por 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
Publicado em 2013

Assessment of Night Vision Problems in Patients with Congenital Stationary Night Blindness

Por Bijveld, Mieke M. C., van Genderen, Maria M., Hoeben, Frank P., Katzin, Amir A., van Nispen, Ruth M. A., Riemslag, Frans C. C., Kappers, Astrid M. L.
Publicado em 2013

Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome

Por 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
Publicado no Genes (Basel) (2018)

A Rare Form of Retinal Dystrophy Caused by Hypomorphic Nonsense Mutations in CEP290

Por 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
Publicado no Genes (Basel) (2017)

Correction: Littink, K. W.; et al. Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome. Genes 2018, 9, 68

Por 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
Publicado no Genes (Basel) (2018)

Mutations in TRPM1 Are a Common Cause of Complete Congenital Stationary Night Blindness

Por 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
Publicado em 2009

A Nonsense Mutation in PDE6H Causes Autosomal-Recessive Incomplete Achromatopsia

Por 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
Publicado em 2012

A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14

Por 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, Klaver, Caroline C W
Publicado em 2010