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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Positional cloning of the gene for X-linked retinitis pigmentosa 2
Berger, Wolfgang, Pinckers, Alfred J.L.G, Bergen, Arthur A.B, Ropers, H.-Hilger, Fundele, Reinald, Rosenberg, Thomas, Feil, Silke, Hinzmann, Bernd, Kirschner, Renate, van Duijnhoven, Gerard, Dong, Juan, Rosenthal, André, Cremers, Frans P.M, Schwahn, Uwe, Hemberger, Myriam, Lenzner, Steffen
Published in Nature genetics (01.08.1998)
Published in Nature genetics (01.08.1998)
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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
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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Positional Cloning of the Gene for X-Linked Retinitis Pigmentosa 3: Homology with the Guanine-Nucleotide-Exchange Factor RCC1
Roepman, Ronald, van Duijnhoven, Gerard, Rosenberg, Thomas, Pinckers, Alfred J. L. G., Bleeker-Wagemakers, Liesbeth M., Bergen, Arthur A. B., Post, Jan, Beck, Alfred, Reinhardt, Richard, Ropers, Hans-Hilger, Cremers, Frans P. M., Berger, Wolfgang
Published in Human molecular genetics (01.07.1996)
Published in Human molecular genetics (01.07.1996)
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Detection and characterization of point mutations in the choroideremia candidate gene by PCR-SSCP analysis and direct DNA sequencing
VAN DEN HURK, J. A. J. M, VAN DE POL, T. J. R, ROPERS, H.-H, CREMERS, F. P. M, MOLLOY, C. M, BRUNSMANN, F, RÜTHER, K, ZRENNER, E, PINCKERS, A. J. L. G, PAWLOWITZKI, I. H, BLEEKER-WAGEMAKERS, E. M, WIERINGA, B
Published in American journal of human genetics (01.06.1992)
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Published in American journal of human genetics (01.06.1992)
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Multipoint linkage analysis in X-linked ocular albinism of the Nettleship-Falls type
Bergen, A A, Samanns, C, Schuurman, E J, van Osch, L, van Dorp, D B, Pinckers, A J, Bakker, E, Gal, A, van Ommen, G J, Bleeker-Wagemakers, E M
Published in Human genetics (01.12.1991)
Published in Human genetics (01.12.1991)
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Carrier detection in X-linked ocular albinism of the Nettleship-Falls type by DNA analysis
Bergen, A A, Schuurman, E J, van den Born, L I, Samanns, C, van Dorp, D B, Pinckers, A J, Bakker, E, van Ommen, G J, Gal, A, Bleeker-Wagemakers, E M
Published in Clinical genetics (01.03.1992)
Published in Clinical genetics (01.03.1992)
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Atypical Cogan's syndrome: an autoimmune disease?
Peeters, G J, Cremers, C W, Pinckers, A J, Hoefnagels, W H
Published in Annals of otology, rhinology & laryngology (01.03.1986)
Published in Annals of otology, rhinology & laryngology (01.03.1986)
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Effect of Steady Hypothermia and Normothermia on Multimodality Evoked Potentials in Human Poikilothermia
MacKenzie, Marius A, Vingerhoets, Dick M, Colon, Ernst J, Pinckers, Alfred J. L. G, Notermans, Servaas L. H
Published in Archives of neurology (Chicago) (01.01.1995)
Published in Archives of neurology (Chicago) (01.01.1995)
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Peripheral and central myelinopathy in Cockayne's syndrome. Report of 3 siblings
Smits, M G, Gabreëls, F J, Renier, W O, Joosten, E M, Gabreëls-Festen, A A, ter Laak, H J, Pinckers, A J, Hombergen, G C, Notermans, S L, Thijssen, H O
Published in Neuropediatrics (01.08.1982)
Published in Neuropediatrics (01.08.1982)
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Deletions in patients with classical choroideremia vary in size from 45 kb to several megabases
CREMERS, F. P. M, SANKILA, E.-M, DE LA CHAPELLE, A, PAWLOWITZKI, I. H, ROPERS, H.-H, BRUNSMANN, F, JAY, M, JAY, B, WRIGHT, A, PINCKERS, A. J. L. G, SCHWARTZ, M, VAN DE POL, D. J. R, WIERINGA, B
Published in American journal of human genetics (01.10.1990)
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Published in American journal of human genetics (01.10.1990)
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