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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X-Linked Retinoschisis: Novel Clinical Observations and Genetic Spectrum in 340 Patients
Hahn, Leo C, van Schooneveld, Mary J, Wesseling, Nieneke L, Florijn, Ralph J, Ten Brink, Jacoline B, Lissenberg-Witte, Birgit I, Strubbe, Ine, Meester-Smoor, Magda A, Thiadens, Alberta A, Diederen, Roselie M, van Cauwenbergh, Caroline, de Zaeytijd, Julie, Walraedt, Sophie, de Baere, Elfride, Klaver, Caroline C W, Ossewaarde-van Norel, Jeannette, van den Born, L Ingeborgh, Hoyng, Carel B, van Genderen, Maria M, Sieving, Paul A, Leroy, Bart P, Bergen, Arthur A, Boon, Camiel J F
Published in Ophthalmology (Rochester, Minn.) (01.02.2022)
Published in Ophthalmology (Rochester, Minn.) (01.02.2022)
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Electroretinogram abnormalities in nonanterior childhood uveitis
Brouwer, Anna H., Genderen, Maria. M., Wit, Gerard C., Boer, Joke H.
Published in Acta ophthalmologica (Oxford, England) (01.06.2019)
Published in Acta ophthalmologica (Oxford, England) (01.06.2019)
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Recognizing differentiating clinical signs of CLN3 disease (Batten disease) at presentation
Kuper, Willemijn F. E., Talsma, Herman E., Schooneveld, Mary J., Pott, Jan Willem R., Huijgen, Barbara C. H., Wit, Gerard C., Hasselt, Peter M., Genderen, Maria M.
Published in Acta ophthalmologica (Oxford, England) (01.06.2021)
Published in Acta ophthalmologica (Oxford, England) (01.06.2021)
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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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Quality of life in patients with CRB1‐associated retinal dystrophies: A longitudinal study
Karuntu, Jessica S., Nguyen, Xuan‐Thanh‐An, Talib, Mays, Schooneveld, Mary J., Wijnholds, Jan, Genderen, Maria M., Schalij‐Delfos, Nicoline E., Klaver, Caroline C. W., Meester‐Smoor, Magda A., Born, L. Ingeborgh, Hoyng, Carel B., Thiadens, Alberta A. H. J., Bergen, Arthur A., Nispen, Ruth M. A., Boon, Camiel J. F.
Published in Acta ophthalmologica (Oxford, England) (01.06.2024)
Published in Acta ophthalmologica (Oxford, England) (01.06.2024)
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Timing of cognitive decline in CLN3 disease
Kuper, Willemijn F. E., van Alfen, Claudia, Rigterink, Roeliene H., Fuchs, Sabine A., van Genderen, Maria M., van Hasselt, Peter M.
Published in Journal of inherited metabolic disease (01.03.2018)
Published in Journal of inherited metabolic disease (01.03.2018)
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Retinal Dystrophy in 6 Young Patients Who Presented with Intermediate Uveitis
Hettinga, Ymkje M., MD, van Genderen, Maria M., MD, PhD, Wieringa, Wietse, MPA, Ossewaarde-van Norel, Jeannette, MD, PhD, de Boer, Joke H., MD, PhD
Published in Ophthalmology (Rochester, Minn.) (01.09.2016)
Published in Ophthalmology (Rochester, Minn.) (01.09.2016)
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Recessive Mutations in SLC38A8 Cause Foveal Hypoplasia and Optic Nerve Misrouting without Albinism
Poulter, James A., Al-Araimi, Musallam, Conte, Ivan, van Genderen, Maria M., Sheridan, Eamonn, Carr, Ian M., Parry, David A., Shires, Mike, Carrella, Sabrina, Bradbury, John, Khan, Kamron, Lakeman, Phillis, Sergouniotis, Panagiotis I., Webster, Andrew R., Moore, Anthony T., Pal, Bishwanath, Mohamed, Moin D., Venkataramana, Anandula, Ramprasad, Vedam, Shetty, Rohit, Saktivel, Murugan, Kumaramanickavel, Govindasamy, Tan, Alex, Mackey, David A., Hewitt, Alex W., Banfi, Sandro, Ali, Manir, Inglehearn, Chris F., Toomes, Carmel
Published in American journal of human genetics (05.12.2013)
Published in American journal of human genetics (05.12.2013)
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Quantification of visual function assessment using remote eye tracking in children: validity and applicability
Kooiker, Marlou J. G., Pel, Johan J. M., Verbunt, Hélène J. M., Wit, Gerard C., Genderen, Maria M., Steen, Johannes
Published in Acta ophthalmologica (Oxford, England) (01.09.2016)
Published in Acta ophthalmologica (Oxford, England) (01.09.2016)
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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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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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Clinical Course, Genetic Etiology, and Visual Outcome in Cone and Cone–Rod Dystrophy
Thiadens, Alberta A.H.J., MD, PhD, Phan, T. My Lan, MD, Zekveld-Vroon, Renate C., MD, Leroy, Bart P., MD, PhD, van den Born, L. Ingeborgh, MD, PhD, Hoyng, Carel B., MD, PhD, Klaver, Caroline C.W., MD, PhD, Roosing, Susanne, Pott, Jan-Willem R, van Schooneveld, Mary J, van Moll-Ramirez, Norka, van Genderen, Maria M, Boon, Camiel J.F, den Hollander, Anneke I, Bergen, Arthur A.B, De Baere, Elfride, Cremers, Frans P.M, Lotery, Andrew J
Published in Ophthalmology (Rochester, Minn.) (01.04.2012)
Published in Ophthalmology (Rochester, Minn.) (01.04.2012)
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LONGITUDINAL STUDY OF RPE65-ASSOCIATED INHERITED RETINAL DEGENERATIONS
Pierrache, Laurence H M, Ghafaryasl, Babak, Khan, Muhammad I, Yzer, Susanne, van Genderen, Maria M, Schuil, José, Boonstra, F Nienke, Pott, Jan W R, de Faber, Jan Tjeerd H N, Tjon-Fo-Sang, Martha J H, Vermeer, Koenraad A, Cremers, Frans P M, Klaver, Caroline C W, van den Born, L Ingeborgh
Published in Retina (Philadelphia, Pa.) (01.09.2020)
Published in Retina (Philadelphia, Pa.) (01.09.2020)
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Defining inclusion criteria and endpoints for clinical trials: a prospective cross‐sectional study in CRB1‐associated retinal dystrophies
Talib, Mays, Schooneveld, Mary J., Wijnholds, Jan, Genderen, Maria M., Schalij‐Delfos, Nicoline E., Talsma, Herman E., Florijn, Ralph J., Brink, Jacoline B., Cremers, Frans P.M., Thiadens, Alberta A.H.J., Born, L. Ingeborgh, Hoyng, Carel B., Meester‐Smoor, Magda A., Bergen, Arthur A., Boon, Camiel J.F.
Published in Acta ophthalmologica (Oxford, England) (01.05.2021)
Published in Acta ophthalmologica (Oxford, England) (01.05.2021)
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