Complete Exon–Intron Structure of the Retina-Specific ATP Binding Transporter Gene (ABCR) Allows the Identification of Novel Mutations Underlying Stargardt Disease
Gerber, S., Rozet, J.M., van de Pol, T.J.R., Hoyng, C.B., Munnich, A., Blankenagel, A., Kaplan, J., Cremers, F.P.M.
Published in Genomics (San Diego, Calif.) (15.02.1998)
Published in Genomics (San Diego, Calif.) (15.02.1998)
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Journal Article
Ten novel mutations found in aniridia
Wolf, Matthias T. F., Lorenz, B, Winterpacht, A, Drechsler, M, Schumacher, V, Royer-Pokora, B, Blankenagel, A, Zabel, B, Wildhardt, G
Published in Human mutation (1998)
Published in Human mutation (1998)
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Journal Article
An ancestral core haplotype defines the critical region harbouring the North Carolina macular dystrophy gene (MCDR1)
Sauer, C G, Schworm, H D, Ulbig, M, Blankenagel, A, Rohrschneider, K, Pauleikhoff, D, Grimm, T, Weber, B H
Published in Journal of medical genetics (01.12.1997)
Published in Journal of medical genetics (01.12.1997)
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Journal Article
Features of mtDNA mutation patterns in European pedigrees and sporadic cases with Leber hereditary optic neuropathy
Obermaier-Kusser, B, Lorenz, B, Schubring, S, Paprotta, A, Zerres, K, Meitinger, T, Meire, F, Cochaux, P, Blankenagel, A, Kommerell, G
Published in American journal of human genetics (01.11.1994)
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Published in American journal of human genetics (01.11.1994)
Journal Article
Heterozygous 'null allele' mutation in the human peripherin/RDS gene
Meins, M, Grüning, G, Blankenagel, A, Krastel, H, Reck, B, Fuchs, S, Schwinger, E, Gal, A
Published in Human molecular genetics (01.12.1993)
Published in Human molecular genetics (01.12.1993)
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Journal Article
Molecular analysis of aniridia patients for deletions involving the Wilms' tumor gene
Drechsler, M, Meijers-Heijboer, E J, Schneider, S, Schurich, B, Grond-Ginsbach, C, Tariverdian, G, Kantner, G, Blankenagel, A, Kaps, D, Schroeder-Kurth, T
Published in Human genetics (01.10.1994)
Published in Human genetics (01.10.1994)
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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
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
Fundus-controlled examination of reading in eyes with macular pathology
Rohrschneider, K, Bethke-Jaenicke, C, Becker, M, Kruse, F E, Blankenagel, A, Völcker, H E
Published in German journal of ophthalmology (01.09.1996)
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Published in German journal of ophthalmology (01.09.1996)
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
Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration
Krämer, F, White, K, Pauleikhoff, D, Gehrig, A, Passmore, L, Rivera, A, Rudolph, G, Kellner, U, Andrassi, M, Lorenz, B, Rohrschneider, K, Blankenagel, A, Jurklies, B, Schilling, H, Schütt, F, Holz, F G, Weber, B H
Published in European journal of human genetics : EJHG (01.04.2000)
Published in European journal of human genetics : EJHG (01.04.2000)
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Journal Article
Phenotypic Spectrum of Autosomal Recessive Cone-Rod Dystrophies Caused by Mutations in the ABCA4 (ABCR) Gene
Klevering, B. Jeroen, Blankenagel, Anita, Maugeri, Alessandra, Cremers, Frans P. M, Hoyng, Carel B, Rohrschneider, Klaus
Published in Investigative ophthalmology & visual science (01.06.2002)
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Published in Investigative ophthalmology & visual science (01.06.2002)
Journal Article
A new clinical classification for Usher's syndrome based on a new subtype of Usher's syndrome type I
Otterstedde, C R, Spandau, U, Blankenagel, A, Kimberling, W J, Reisser, C
Published in The Laryngoscope (01.01.2001)
Published in The Laryngoscope (01.01.2001)
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Journal Article
Satisfaction with low vision aids
Rohrschneider, K, Kiel, R, Pavlovska, V, Blankenagel, A
Published in Klinische Monatsblätter für Augenheilkunde (01.07.2002)
Published in Klinische Monatsblätter für Augenheilkunde (01.07.2002)
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Diagnostik bei Netzhauterkrankungen. Vergleich von multifokalem ERG und funduskontrollierter Perimetrie - Fallstudie
ROHRSCHNEIDER, K, BÜLTMANN, S, KIEL, R, WEIMER, P, KRASTEL, H, BLANKENAGEL, A
Published in Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft (01.09.2002)
Published in Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft (01.09.2002)
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