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A. A. B. Bergen
Researcher at Netherlands Institute for Neuroscience
Publications - 41
Citations - 997
A. A. B. Bergen is an academic researcher from Netherlands Institute for Neuroscience. The author has contributed to research in topics: Retinitis pigmentosa & Locus (genetics). The author has an hindex of 16, co-authored 41 publications receiving 958 citations.
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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.
Alessandra Maugeri,M.A. van Driel,T.J.R. van de Pol,B.J. Klevering,F.J.J. van Haren,N. Tijmes,A. A. B. Bergen,Klaus Rohrschneider,A. Blankenagel,Alfred J. L. G. Pinckers,Niklas Dahl,Han G. Brunner,August F. Deutman,Carel B. Hoyng,Frans P.M. Cremers +14 more
TL;DR: It is hypothesized that the 2588G-->C alteration is a mild mutation that causes Stargardt disease only in combination with a severe ABCR mutation, and homozygosity for this and other mild ABCR mutations probably does not result in an STGD phenotype.
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Assignment of a gene for autosomal recessive retinitis pigmentosa (RP12) to chromosome 1q31-q32.1 in an inbred and genetically heterogeneous disease population
S. van Soest,L. I. van den Born,Andreas Gal,Gwyneth Jane Farrar,L. M. Bleeker-Wagemakers,Andries Westerveld,Peter Humphries,Lodewijk A. Sandkuijl,A. A. B. Bergen +8 more
TL;DR: This study reveals that even in a large family segregating for autosomal recessive retinitis pigmentosa, genetic heterogeneity can be detected and resolved successfully.
Journal ArticleDOI
Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa
Judith C. Booij,Ralph J. Florijn,J.B. ten Brink,W. Loves,Françoise Meire,M.J. van Schooneveld,P.T.V.M. de Jong,A. A. B. Bergen +7 more
TL;DR: New and previously described sequence changes were detected in retinitis pigmentosa in CRB1, GUCY2D, and RPGRIP1; and in LCA patients in CRBs, G UCY2d, and RPE65, suggesting that LCA and juvenile ARRP are closely related and belong to a continuous spectrum of juvenile retinopathy pigmentosa.
Journal ArticleDOI
A Gene for X-Linked Optic Atrophy Is Closely Linked to the Xp11.4-Xp11.2 Region of the X Chromosome
J. J. M. Assink,N.T. Tijmes,J.B. Ten Brink,Roelof-Jan Oostra,Frans C. C. Riemslag,P.T.V.M. de Jong,A. A. B. Bergen +6 more
TL;DR: A large family of 45 individuals with a four-generation history of X-linked optic atrophy was reexamined in a full ophthalmic as well as electrophysiological examination, and DNA linkage analysis of the family was undertaken in order to identify the chromosomal location of the disease-causing gene.