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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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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Mutation Analysis of Patients with Hermansky-Pudlak Syndrome: A Frameshift Hot Spot in the HPS Gene and Apparent Locus Heterogeneity
Oh, Jangsuk, Ho, Lingling, Ala-Mello, Sirpa, Amato, Dominick, Armstrong, Linda, Bellucci, Sylvia, Carakushansky, Gerson, Ellis, Julia P., Fong, Chin-To, Green, Jane S., Heon, Elise, Legius, Eric, Levin, Alex V., Nieuwenhuis, H. Karel, Pinckers, A., Tamura, Naoaki, Whiteford, Margo L., Yamasaki, Hisato, Spritz, Richard A.
Published in American journal of human genetics (01.03.1998)
Published in American journal of human genetics (01.03.1998)
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Molecular basis of choroideremia (CHM): Mutations involving the rab escort protein-1 (REP-1) gene
van den Hurk, JAJM, Schwartz, M, van Bokhoven, H, van de Pol, TJR, Bogerd, L, Pinckers, AJLG, Bleeker-Wagemakers, EM, Pawlowitzki, IH, Rüther, K, Ropers, H-H, Cremers, FPM
Published in Human mutation (1997)
Published in Human mutation (1997)
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Ocular and Systemic Manifestations of Cerebrotendinous Xanthomatosis
CRUYSBERG, J.R.M., WEVERS, R.A., van ENGELEN, B.G.M., PINCKERS, A., van SPREEKEN, A., TOLBOOM, J.J.M.
Published in American journal of ophthalmology (01.11.1995)
Published in American journal of ophthalmology (01.11.1995)
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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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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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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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