Genetic Etiology and Clinical Consequences of Complete and Incomplete Achromatopsia
Thiadens, Alberta A.H.J., MD, Slingerland, Niki W.R., MD, Roosing, Susanne, Ing, van Schooneveld, Mary J., MD, PhD, van Lith-Verhoeven, Janneke J.C., MD, PhD, van Moll-Ramirez, Norka, MD, van den Born, L. Ingeborgh, MD, PhD, Hoyng, Carel B., MD, PhD, Cremers, Frans P.M., PhD, Klaver, Caroline C.W., MD, PhD
Published in Ophthalmology (Rochester, Minn.) (01.10.2009)
Published in Ophthalmology (Rochester, Minn.) (01.10.2009)
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Comprehensive Analysis of the Achromatopsia Genes CNGA3 and CNGB3 in Progressive Cone Dystrophy
Thiadens, Alberta A.H.J., MD, Roosing, Susanne, Collin, Rob W.J., PhD, van Moll-Ramirez, Norka, MD, van Lith-Verhoeven, Janneke J.C., MD, PhD, van Schooneveld, Mary J., MD, PhD, den Hollander, Anneke I., PhD, van den Born, L. Ingeborgh, MD, PhD, Hoyng, Carel B., MD, PhD, Cremers, Frans P.M., PhD, Klaver, Caroline C.W., MD, PhD
Published in Ophthalmology (Rochester, Minn.) (01.04.2010)
Published in Ophthalmology (Rochester, Minn.) (01.04.2010)
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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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Journal Article
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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Development of Refractive Errors—What Can We Learn From Inherited Retinal Dystrophies?
Hendriks, Michelle, Verhoeven, Virginie J.M., Buitendijk, Gabriëlle H.S., Polling, Jan Roelof, Meester-Smoor, Magda A., Hofman, Albert, van Huet, Ramon A., Klevering, B. Jeroen, Bax, Nathalie M., Lambertus, Stanley, Klaver, Caroline C.W., Hoyng, Carel B., Oomen, Clasien J., van Zelst-Stams, Wendy A., Cremers, Frans P., Plomp, Astrid S., van Schooneveld, Mary J., van Genderen, Mies M., Schuil, José, Boonstra, F. Nienke, Schlingemann, Reinier O., Bergen, Arthur A., Pierrache, Laurence, Meester-Smoor, Magda, van den Born, L. Ingeborgh, Boon, Camiel J., Pott, Jan W.R., van Leeuwen, Redmer, Kroes, Hester Y, de Jong-Hesse, Yvonne, Kamermans, Maarten, Ingeborgh van den Born, L., Klaver, Caroline C.W.
Published in American journal of ophthalmology (01.10.2017)
Published in American journal of ophthalmology (01.10.2017)
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Visual Prognosis in USH2A -Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa
Pierrache, Laurence H.M., MD, Hartel, Bas P., MD, van Wijk, Erwin, PhD, Meester-Smoor, Magda A., PhD, Cremers, Frans P.M., PhD, de Baere, Elfride, MD, PhD, de Zaeytijd, Julie, MD, van Schooneveld, Mary J., MD, PhD, Cremers, Cor W.R.J., MD, PhD, Dagnelie, Gislin, PhD, Hoyng, Carel B., MD, PhD, Bergen, Arthur A., PhD, Leroy, Bart P., MD, PhD, Pennings, Ronald J.E., MD, PhD, van den Born, L. Ingeborgh, MD, PhD, Klaver, Caroline C.W., MD, PhD
Published in Ophthalmology (Rochester, Minn.) (01.05.2016)
Published in Ophthalmology (Rochester, Minn.) (01.05.2016)
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RPGR -Associated Dystrophies: Clinical, Genetic, and Histopathological Features
Nguyen, Xuan-Thanh-An, Talib, Mays, van Schooneveld, Mary J, Brinks, Joost, Ten Brink, Jacoline, Florijn, Ralph J, Wijnholds, Jan, Verdijk, Robert M, Bergen, Arthur A, Boon, Camiel J F
Published in International journal of molecular sciences (28.01.2020)
Published in International journal of molecular sciences (28.01.2020)
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Progressive loss of cones in achromatopsia: an imaging study using spectral-domain optical coherence tomography
Thiadens, Alberta A H J, Somervuo, Ville, van den Born, L Ingeborgh, Roosing, Susanne, van Schooneveld, Mary J, Kuijpers, Robert W A M, van Moll-Ramirez, Norka, Cremers, Frans P M, Hoyng, Carel B, Klaver, Caroline C W
Published in Investigative ophthalmology & visual science (01.11.2010)
Published in Investigative ophthalmology & visual science (01.11.2010)
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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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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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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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Journal Article
Leber's hereditary optic neuropathy like disease in MT-ATP6 variant m.8969G>A
de Muijnck, Cansu, van Schooneveld, Mary J., Plomp, Astrid S., Rodenburg, Richard J., van Genderen, Maria M., Boon, Camiel J.F.
Published in American journal of ophthalmology case reports (01.06.2024)
Published in American journal of ophthalmology case reports (01.06.2024)
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Journal Article
The Phenotypic Spectrum of Patients with PHARC Syndrome Due to Variants in ABHD12 : An Ophthalmic Perspective
Nguyen, Xuan-Thanh-An, Almushattat, Hind, Strubbe, Ine, Georgiou, Michalis, Li, Catherina H Z, van Schooneveld, Mary J, Joniau, Inge, De Baere, Elfride, Florijn, Ralph J, Bergen, Arthur A, Hoyng, Carel B, Michaelides, Michel, Leroy, Bart P, Boon, Camiel J F
Published in Genes (11.09.2021)
Published in Genes (11.09.2021)
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Genotypic and Phenotypic Characteristics of CRB1 -Associated Retinal Dystrophies
Talib, Mays, MD, van Schooneveld, Mary J., MD, PhD, van Genderen, Maria M., MD, PhD, Wijnholds, Jan, PhD, Florijn, Ralph J., PhD, ten Brink, Jacoline B., BAS, Schalij-Delfos, Nicoline E., MD, PhD, Dagnelie, Gislin, PhD, Cremers, Frans P.M., PhD, Wolterbeek, Ron, PhD, Fiocco, Marta, PhD, Thiadens, Alberta A., MD, PhD, Hoyng, Carel B., MD, PhD, Klaver, Caroline C., MD, PhD, Bergen, Arthur A., PhD, Boon, Camiel J.F., MD, PhD
Published in Ophthalmology (Rochester, Minn.) (01.06.2017)
Published in Ophthalmology (Rochester, Minn.) (01.06.2017)
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Leber Congenital Amaurosis and Retinitis Pigmentosa with Coats-like Exudative Vasculopathy Are Associated with Mutations in the Crumbs Homologue 1 ( CRB1) Gene
Hollander, Anneke I. den, Heckenlively, John R., van den Born, L. Ingeborgh, de Kok, Yvette J.M., van der Velde-Visser, Saskia D., Kellner, Ulrich, Jurklies, Bernhard, van Schooneveld, Mary J., Blankenagel, Anita, Rohrschneider, Klaus, Wissinger, Bernd, Cruysberg, Johan R.M., Deutman, August F., Brunner, Han G., Apfelstedt-Sylla, Eckart, Hoyng, Carel B., Cremers, Frans P.M.
Published in American journal of human genetics (01.07.2001)
Published in American journal of human genetics (01.07.2001)
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Clinical and molecular genetic analysis of best vitelliform macular dystrophy
Boon, Camiel J F, Theelen, Thomas, Hoefsloot, Elisabeth H, van Schooneveld, Mary J, Keunen, Jan E E, Cremers, Frans P M, Klevering, B Jeroen, Hoyng, Carel B
Published in Retina (Philadelphia, Pa.) (01.06.2009)
Published in Retina (Philadelphia, Pa.) (01.06.2009)
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Course of Visual Decline in Relation to the Best1 Genotype in Vitelliform Macular Dystrophy
Booij, Judith C., MD, Boon, Camiel J.F., MD, van Schooneveld, Mary J., MD, PhD, ten Brink, Jacoline B., BaS, Bakker, Arne, BaS, de Jong, Paulus T.V.M., MD, PhD, Hoyng, Carel B., MD, PhD, Bergen, Arthur A.B., PhD, Klaver, Caroline C.W., MD, PhD
Published in Ophthalmology (Rochester, Minn.) (01.07.2010)
Published in Ophthalmology (Rochester, Minn.) (01.07.2010)
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Journal Article
Genotypic and Phenotypic Characteristics of CRB1-Associated Retinal Dystrophies: A Long-Term Follow-up Study
Talib, Mays, van Schooneveld, Mary J, van Genderen, Maria M, Wijnholds, Jan, Florijn, Ralph J, Ten Brink, Jacoline B, Schalij-Delfos, Nicoline E, Dagnelie, Gislin, Cremers, Frans P M, Wolterbeek, Ron, Fiocco, Marta, Thiadens, Alberta A, Hoyng, Carel B, Klaver, Caroline C, Bergen, Arthur A, Boon, Camiel J F
Published in Ophthalmology (Rochester, Minn.) (01.06.2017)
Published in Ophthalmology (Rochester, Minn.) (01.06.2017)
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Journal Article
CLINICAL AND GENETIC CHARACTERISTICS OF MALE PATIENTS WITH RPGR-ASSOCIATED RETINAL DYSTROPHIES: A Long-Term Follow-up Study
Talib, Mays, van Schooneveld, Mary J, Thiadens, Alberta A, Fiocco, Marta, Wijnholds, Jan, Florijn, Ralph J, Schalij-Delfos, Nicoline E, van Genderen, Maria M, Putter, Hein, Cremers, Frans P M, Dagnelie, Gislin, Ten Brink, Jacoline B, Klaver, Caroline C W, van den Born, L Ingeborgh, Hoyng, Carel B, Bergen, Arthur A, Boon, Camiel J F
Published in Retina (Philadelphia, Pa.) (01.06.2019)
Published in Retina (Philadelphia, Pa.) (01.06.2019)
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CRB1-Associated Retinal Dystrophies: A Prospective Natural History Study in Anticipation of Future Clinical Trials
Nguyen, Xuan-Thanh-An, Talib, Mays, van Schooneveld, Mary J., Wijnholds, Jan, van Genderen, Maria M., Schalij-Delfos, Nicoline E., Klaver, Caroline C.W., Talsma, Herman E., Fiocco, Marta, Florijn, Ralph J., ten Brink, Jacoline B., Cremers, Frans P.M., Meester-Smoor, Magda A., van den Born, L. Ingeborgh, Hoyng, Carel B., Thiadens, Alberta A.H.J., Bergen, Arthur A., Boon, Camiel J.F.
Published in American journal of ophthalmology (01.02.2022)
Published in American journal of ophthalmology (01.02.2022)
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