Search Results - "FLORIJN, Ralph J"

RPGR -Associated Dystrophies: Clinical, Genetic, and Histopathological Features by 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

“…This study describes the clinical, genetic, and histopathological features in patients with -associated retinal dystrophies. Nine male patients from eight…”
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Mutations in TRPM1 Are a Common Cause of Complete Congenital Stationary Night Blindness by 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

“…Congenital stationary night blindness (CSNB) is a clinically and genetically heterogeneous group of retinal disorders characterized by nonprogressive impaired…”
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Genotype and Phenotype of 101 Dutch Patients with Congenital Stationary Night Blindness by 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

“…Objective To investigate the relative frequency of the genetic causes of the Schubert–Bornschein type of congenital stationary night blindness (CSNB) and to…”
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Defining inclusion criteria and endpoints for clinical trials: a prospective cross‐sectional study in CRB1‐associated retinal dystrophies by 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.

“…Purpose To investigate the retinal structure and function in patients with CRB1‐associated retinal dystrophies (RD) and to explore potential clinical…”
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Genotypic and Phenotypic Characteristics of CRB1 -Associated Retinal Dystrophies by 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

“…Purpose To describe the phenotype, long-term clinical course, clinical variability, and genotype of patients with CRB1 -associated retinal dystrophies. Design…”
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Simultaneous Mutation Detection in 90 Retinal Disease Genes in Multiple Patients Using a Custom-designed 300-kb Retinal Resequencing Chip by Booij, Judith C., MD, PhD, Bakker, Arne, BSc, Kulumbetova, Jamilia, MD, PhD, Moutaoukil, Youssef, BSc, Smeets, Bert, PhD, Verheij, Joke, MD, PhD, Kroes, Hester Y., MD, PhD, Klaver, Caroline C.W., MD, PhD, van Schooneveld, Mary, MD, PhD, Bergen, Arthur A.B., PhD, Florijn, Ralph J., PhD

“…Purpose To develop a high-throughput, cost-effective diagnostic strategy for the identification of known and new mutations in 90 retinal disease genes. Design…”
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Ultrastructural localization of GPR179 and the impact of mutant forms on retinal function in CSNB1 patients and a mouse model by 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

“…Complete congenital stationary night blindness (CSNB1) is characterized by loss of night vision due to a defect in the retinal ON-bipolar cells (BCs)…”
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Clinical course of cone dystrophy caused by mutations in the RPGR gene by 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.

“…Background Mutations in the RPGR gene predominantly cause rod photoreceptor disorders with a large variability in clinical course. In this report, we describe…”
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The Phenotypic Spectrum of Albinism by Kruijt, Charlotte C., de Wit, Gerard C., Bergen, Arthur A., Florijn, Ralph J., Schalij-Delfos, Nicoline E., van Genderen, Maria M.

“…To describe the phenotypic spectrum of a large cohort of albino patients, to investigate the relationship between the ocular abnormalities and the visual…”
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X-Linked Retinoschisis: Novel Clinical Observations and Genetic Spectrum in 340 Patients by 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

“…To describe the natural course, phenotype, and genotype of patients with X-linked retinoschisis (XLRS). Retrospective cohort study. Three hundred forty…”
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Genotypic and Phenotypic Characteristics of CRB1-Associated Retinal Dystrophies: A Long-Term Follow-up Study by 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

“…To describe the phenotype, long-term clinical course, clinical variability, and genotype of patients with CRB1-associated retinal dystrophies. Retrospective…”
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CLINICAL AND GENETIC CHARACTERISTICS OF MALE PATIENTS WITH RPGR-ASSOCIATED RETINAL DYSTROPHIES: A Long-Term Follow-up Study by 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

“…To describe the phenotype and clinical course of patients with RPGR-associated retinal dystrophies, and to identify genotype-phenotype correlations. A…”
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Utilization of automated cilia analysis to characterize novel INPP5E variants in patients with non-syndromic retinitis pigmentosa by Whiting, Kae R, Haer-Wigman, Lonneke, Florijn, Ralph J, van Beek, Ronald, Oud, Machteld M, Plomp, Astrid S, Boon, Camiel J F, Kroes, Hester Y, Roepman, Ronald

“…INPP5E encodes inositol polyphosphate-5-phosphatase E, an enzyme involved in regulating the phosphatidylinositol (PIP) makeup of the primary cilium membrane…”
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Genotype-phenotype correlation in pseudoxanthoma elasticum by Bartstra, Jonas W., Risseeuw, Sara, de Jong, Pim A., van Os, Bram, Kalsbeek, Lianne, Mol, Chris, Baas, Annette F., Verschuere, Shana, Vanakker, Olivier, Florijn, Ralph J., Hendrikse, Jeroen, Mali, Willem, Imhof, Saskia, Ossewaarde-van Norel, Jeannette, van Leeuwen, Redmer, Spiering, Wilko

“…Pseudoxanthoma elasticum (PXE) is caused by variants in the ABCC6 gene. It results in calcification in the skin, peripheral arteries and the eyes, but has…”
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CRB1-Associated Retinal Dystrophies: A Prospective Natural History Study in Anticipation of Future Clinical Trials by 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.

“…To investigate the natural disease course of retinal dystrophies associated with crumbs cell polarity complex component 1 (CRB1) and identify clinical end…”
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The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences by Kruijt, Charlotte C, Gradstein, Libe, Bergen, Arthur A, Florijn, Ralph J, Arveiler, Benoit, Lasseaux, Eulalie, Zanlonghi, Xavier, Bagdonaite-Bejarano, Laura, Fulton, Anne B, Yahalom, Claudia, Blumenfeld, Anat, Perez, Yonatan, Birk, Ohad S, de Wit, Gerard C, Schalij-Delfos, Nicoline E, van Genderen, Maria M

“…The purpose of this study was to further expand the mutational spectrum of the Foveal Hypoplasia, Optic Nerve Decussation defect, and Anterior segment…”
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Autosomal recessive bestrophinopathy: differential diagnosis and treatment options by 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

“…To describe the clinical and genetic characteristics of patients with autosomal recessive bestrophinopathy (ARB). Retrospective case series. Ten patients with…”
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The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in the RPGR Gene by Talib, Mays, van Schooneveld, Mary J, Van Cauwenbergh, Caroline, Wijnholds, Jan, Ten Brink, Jacoline B, Florijn, Ralph J, Schalij-Delfos, Nicoline E, Dagnelie, Gislin, van Genderen, Maria M, De Baere, Elfride, Meester-Smoor, Magda A, De Zaeytijd, Julie, Cremers, Frans P M, van den Born, L Ingeborgh, Thiadens, Alberta A, Hoyng, Carel B, Klaver, Caroline C, Leroy, Bart P, Bergen, Arthur A, Boon, Camiel J F

“…The purpose of this study was to investigate the phenotype and long-term clinical course of female carriers of RPGR mutations. This was a retrospective cohort…”
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CLINICAL CHARACTERISTICS AND NATURAL HISTORY OF RHO-ASSOCIATED RETINITIS PIGMENTOSA: A Long-Term Follow-Up Study by Nguyen, Xuan-Thanh-An, Talib, Mays, van Cauwenbergh, Caroline, van Schooneveld, Mary J., Fiocco, Marta, Wijnholds, Jan, ten Brink, Jacoline B., Florijn, Ralph J., Schalij-Delfos, Nicoline E., Dagnelie, Gislin, van Genderen, Maria M., de Baere, Elfride, Meester-Smoor, Magda A., De Zaeytijd, Julie, Balikova, Irina, Thiadens, Alberta A., Hoyng, Carel B., Klaver, Caroline C., van den Born, L. Ingeborgh, Bergen, Arthur A., Leroy, Bart P., Boon, Camiel J.F.

“…To investigate the natural history of RHO-associated retinitis pigmentosa (RP). A multicenter, medical chart review of 100 patients with autosomal dominant…”
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LONG-TERM FOLLOW-UP OF PATIENTS WITH RETINITIS PIGMENTOSA TYPE 12 CAUSED BY CRB1 MUTATIONS: A Severe Phenotype With Considerable Interindividual Variability by Mathijssen, Inge B, Florijn, Ralph J, van den Born, L Ingeborgh, Zekveld-Vroon, Renate C, Ten Brink, Jacoline B, Plomp, Astrid S, Baas, Frank, Meijers-Heijboer, Hanne, Bergen, Arthur A B, van Schooneveld, Mary J

“…To examine the long-term clinical course and variability in a large pedigree segregating CRB1 type autosomal recessive retinitis pigmentosa. An observational…”
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