Arthur Bergen
Arthur Bergen
Hoogleraar complexe Ophthalmogenetica
Email verificata su amc.uva.nl
Titolo
Citata da
Citata da
Anno
Identification of the gene responsible for Best macular dystrophy
K Petrukhin, MJ Koisti, B Bakall, W Li, G Xie, T Marknell, O Sandgren, ...
Nature genetics 19 (3), 241-247, 1998
6861998
Mutations in ABCC6 cause pseudoxanthoma elasticum
AAB Bergen, AS Plomp, EJ Schuurman, S Terry, M Breuning, ...
Nature genetics 25 (2), 228-231, 2000
5842000
Autosomal Recessive Retinitis Pigmentosa and Cone-rod Dystrophy Caused by Splice Site Mutations in the Stargardt's Disease Gene ABCR
FPM Cremers, DJR van de Pol, M van Driel, AI den Hollander, ...
Human molecular genetics 7 (3), 355-362, 1998
5411998
Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)
AI den Hollander, B Jacoline, YJM de Kok, S van Soest, LI van den Born, ...
Nature genetics 23 (2), 217-221, 1999
4861999
The dynamic nature of Bruch's membrane
JC Booij, DC Baas, J Beisekeeva, TGMF Gorgels, AAB Bergen
Progress in retinal and eye research 29 (1), 1-18, 2010
4282010
Complement factor H polymorphism, complement activators, and risk of age-related macular degeneration
DDG Despriet, CCW Klaver, JCM Witteman, AAB Bergen, I Kardys, ...
Jama 296 (3), 301-309, 2006
3972006
Positional cloning of the gene for X-linked retinitis pigmentosa 2
U Schwahn, S Lenzner, J Dong, S Feil, B Hinzmann, G Van Duijnhoven, ...
Nature genetics 19 (4), 327-332, 1998
3841998
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia
VJM Verhoeven, PG Hysi, R Wojciechowski, Q Fan, JA Guggenheim, ...
Nature genetics 45 (3), 314-318, 2013
3732013
Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness
NT Bech-Hansen, MJ Naylor, TA Maybaum, RL Sparkes, B Koop, ...
Nature genetics 26 (3), 319-323, 2000
3352000
Retinitis pigmentosa: defined from a molecular point of view
S Van Soest, A Westerveld, PTVM De Jong, EM Bleeker-Wagemakers, ...
Survey of ophthalmology 43 (4), 321-334, 1999
3281999
Isolation of a candidate gene for Norrie disease by positional cloning
W Berger, A Meindl, TJR Van de Pol, FPM Cremers, HH Ropers, ...
Nature genetics 1 (3), 199-203, 1992
2781992
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…
A Maugeri, MA van Driel, DJR van de Pol, BJ Klevering, FJJ van Haren, ...
The American Journal of Human Genetics 64 (4), 1024-1035, 1999
2441999
A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14
AM Solouki, VJM Verhoeven, CM Van Duijn, AJMH Verkerk, MK Ikram, ...
Nature genetics 42 (10), 897-901, 2010
2202010
Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome
MT Bassi, MV Schiaffino, A Renieri, F De Nigris, L Galli, M Bruttini, ...
Nature genetics 10 (1), 13-19, 1995
2161995
Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1
R Roepman, G van Duijnhoven, T Rosenberg, AJLG Pinckers, ...
Human molecular genetics 5 (7), 1035-1041, 1996
2131996
Prevalence of age-related macular degeneration in Europe: the past and the future
JM Colijn, GHS Buitendijk, E Prokofyeva, D Alves, ML Cachulo, ...
Ophthalmology 124 (12), 1753-1763, 2017
2072017
A genome-wide association study of optic disc parameters
WD Ramdas, LME Van Koolwijk, MK Ikram, NM Jansonius, ...
PLoS Genet 6 (6), e1000978, 2010
1992010
MRP6 (ABCC6) detection in normal human tissues and tumors
GL Scheffer, X Hu, ACLM Pijnenborg, J Wijnholds, AAB Bergen, ...
Laboratory investigation 82 (4), 515-518, 2002
1982002
Mutations in TRPM1 are a common cause of complete congenital stationary night blindness
MM van Genderen, MMC Bijveld, YB Claassen, RJ Florijn, JN Pearring, ...
The American Journal of Human Genetics 85 (5), 730-736, 2009
1942009
Disruption of Abcc6 in the mouse: novel insight in the pathogenesis of pseudoxanthoma elasticum
TGMF Gorgels, X Hu, GL Scheffer, AC van der Wal, J Toonstra, ...
Human molecular genetics 14 (13), 1763-1773, 2005
1882005
Il sistema al momento non pu eseguire l'operazione. Riprova pi tardi.
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