Autosomal Recessive Retinitis Pigmentosa and Cone-rod Dystrophy Caused by Splice Site Mutations in the Stargardt's Disease Gene ABCR
Cremers, Frans P. M., van de Pol, Dorien J. R., van Driel, Marc, den Hollander, Anneke I., van Haren, Frank J. J., Knoers, Nine V. A. M., Tijmes, Nel, Bergen, Arthur A. B., Rohrschneider, Klaus, Blankenagel, Anita, Pinckers, Alfred J. L. G., Deutman, August F., Hoyng, Carel B.
Published in Human molecular genetics (01.03.1998)
Published in Human molecular genetics (01.03.1998)
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Journal Article
The 2588G→C Mutation in the ABCR Gene Is a Mild Frequent Founder Mutation in the Western European Population and Allows the Classification of ABCR Mutations in Patients with Stargardt Disease
Maugeri, Alessandra, van Driel, Marc A., van de Pol, Dorien J.R., Klevering, B. Jeroen, van Haren, Frank J.J., Tijmes, Nel, Bergen, Arthur A.B., Rohrschneider, Klaus, Blankenagel, Anita, Pinckers, Alfred J.L.G., Dahl, Niklas, Brunner, Han G., Deutman, August F., Hoyng, Carel B., Cremers, Frans P.M.
Published in American journal of human genetics (01.04.1999)
Published in American journal of human genetics (01.04.1999)
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Journal Article
Impact factors on intraocular pressure measurements in healthy subjects
Theelen, T, Meulendijks, C F M, Geurts, D E M, van Leeuwen, A, Voet, N B M, Deutman, A F
Published in British journal of ophthalmology (01.12.2004)
Published in British journal of ophthalmology (01.12.2004)
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Journal Article
Hereditary retinal dystrophies and choroidal neovascularization
MARANO, Filippo, DEUTMAN, August F, LEYS, Anita, AANDEKERK, Albert L
Published in Graefe's archive for clinical and experimental ophthalmology (01.09.2000)
Published in Graefe's archive for clinical and experimental ophthalmology (01.09.2000)
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Journal Article
Identification of novel locus for autosomal dominant butterfly shaped macular dystrophy on 5q21.2–q33.2
den Hollander, A I, van Lith-Verhoeven, J J C, Kersten, F F J, Heister, J G A M, de Kovel, C G F, Deutman, A F, Hoyng, C B, Cremers, F P M
Published in Journal of medical genetics (01.09.2004)
Published in Journal of medical genetics (01.09.2004)
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Journal Article
Delay in diagnosis of homocystinuria: retrospective study of consecutive patients
Cruysberg, Johan R M, Boers, Godfried H J, Trijbels, J M Frans, Deutman, August F
Published in BMJ (26.10.1996)
Published in BMJ (26.10.1996)
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Journal Article
Autosomal Dominant Central Areolar Choroidal Dystrophy Caused by a Mutation in Codon 142 in the Peripherin/RDS Gene
HOYNG, CAREL B., HEUTINK, PETER, TESTERS, LEON, PINCKERS, ALFRED, DEUTMAN, AUGUST F., OOSTRA, BEN A.
Published in American journal of ophthalmology (01.06.1996)
Published in American journal of ophthalmology (01.06.1996)
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Journal Article
A randomized controlled clinical trial on the efficacy of radiation therapy in the control of subfoveal choroidal neovascularization in age-related macular degeneration : Radiation versus observation
BERGINK, G.-J, HOYNG, C. B, VAN DER MAAZEN, R. W. M, VINGERLING, J. R, VAN DAAL, W. A, DEUTMAN, A. F
Published in Graefe's archive for clinical and experimental ophthalmology (01.05.1998)
Published in Graefe's archive for clinical and experimental ophthalmology (01.05.1998)
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Journal Article
Hyperhomocysteinemia in retinal artery and retinal vein occlusion
Wenzler, E M, Rademakers, A J, Boers, G H, Cruysberg, J R, Webers, C A, Deutman, A F
Published in American journal of ophthalmology (15.02.1993)
Published in American journal of ophthalmology (15.02.1993)
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Journal Article
Bilateral detachment of the macular neuroepithelium in a patient with Klinefelter syndrome
van Haarlem, J, Cruysberg, J R M, Deutman, A F
Published in European journal of ophthalmology (01.06.2003)
Published in European journal of ophthalmology (01.06.2003)
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Journal Article
Isolation and Mapping of Novel Candidate Genes for Retinal Disorders Using Suppression Subtractive Hybridization
den Hollander, Anneke I., van Driel, Marc A., de Kok, Yvette J.M., van de Pol, Dorien J.R., Hoyng, Carel B., Brunner, Han G., Deutman, August F., Cremers, Frans P.M.
Published in Genomics (San Diego, Calif.) (15.06.1999)
Published in Genomics (San Diego, Calif.) (15.06.1999)
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Journal Article
Genetic fine mapping of the gene for recessive Stargardt disease
Hoyng, C B, Poppelaars, F, van de Pol, T J, Kremer, H, Pinckers, A J, Deutman, A F, Cremers, F P
Published in Human genetics (01.10.1996)
Published in Human genetics (01.10.1996)
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Journal Article
Mutations in the ABCA4 ( ABCR) Gene Are the Major Cause of Autosomal Recessive Cone-Rod Dystrophy
Maugeri, Alessandra, Klevering, B. Jeroen, Rohrschneider, Klaus, Blankenagel, Anita, Brunner, Han G., Deutman, August F., Hoyng, Carel B., Cremers, Frans P.M.
Published in American journal of human genetics (01.10.2000)
Published in American journal of human genetics (01.10.2000)
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Journal Article
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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Journal Article
Radiation therapy for subfoveal choroidal neovascular membranes in age-related macular degeneration. A pilot study
Bergink, G J, Deutman, A F, van den Broek, J F, van Daal, W A, van der Maazen, R W
Published in Graefe's archive for clinical and experimental ophthalmology (01.10.1994)
Published in Graefe's archive for clinical and experimental ophthalmology (01.10.1994)
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Journal Article
The development of central areolar choroidal dystrophy
Hoyng, C B, Deutman, A F
Published in Graefe's archive for clinical and experimental ophthalmology (01.02.1996)
Published in Graefe's archive for clinical and experimental ophthalmology (01.02.1996)
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Journal Article
Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)
Cremers, Frans P.M, den Hollander, Anneke I, ten Brink, Jacoline B, de Kok, Yvette J.M, van Soest, Simone, van den Born, L. Ingeborgh, van Driel, Marc A, van de Pol, Dorien J.R, Payne, Annette M, Bhattacharya, Shomi S, Kellner, Ulrich, Hoyng, Carel B, Westerveld, Andries, Brunner, Han G, Bleeker-Wagemakers, Elisabeth M, Deutman, August F, Heckenlively, John R, Bergen, Arthur A.B
Published in Nature genetics (01.10.1999)
Published in Nature genetics (01.10.1999)
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Journal Article
Localization of the gene for dominant cystoid macular dystrophy on chromosome 7p
Kremer, H, Pinckers, A, van den Helm, B, Deutman, A F, Ropers, H H, Mariman, E C
Published in Human molecular genetics (01.02.1994)
Published in Human molecular genetics (01.02.1994)
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Journal Article
Treatment of hyperopia with contact Ho:YAG laser thermal keratoplasty
EGGINK, C. A, BARDAK, Y, CUYPERS, M. H. M, DEUTMAN, A. F
Published in Journal of refractive surgery (1995) (1999)
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Published in Journal of refractive surgery (1995) (1999)
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