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Bernhard H.F. Weber
Bernhard H.F. Weber
Dirección de correo verificada de klinik.uni-regensburg.de - Página principal
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A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants
LG Fritsche, W Igl, JNC Bailey, F Grassmann, S Sengupta, ...
Nature genetics 48 (2), 134-143, 2016
13852016
Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement …
A Rivera, SA Fisher, LG Fritsche, CN Keilhauer, P Lichtner, T Meitinger, ...
Human molecular genetics 14 (21), 3227-3236, 2005
9382005
Seven new loci associated with age-related macular degeneration
Nature genetics 45 (4), 433-439, 2013
8532013
Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy
BHF Weber, G Vogt, RC Pruett, H Stöhr, U Felbor
Nature genetics 8 (4), 352-356, 1994
7331994
Microglia activation in retinal degeneration
T Langmann
Journal of Leucocyte Biology 81 (6), 1345-1351, 2007
6162007
An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness
TM Strom, G Nyakatura, E Apfelstedt-Sylla, H Hellebrand, B Lorenz, ...
Nature genetics 19 (3), 260-263, 1998
6061998
Positional cloning of the gene associated with X-linked juvenile retinoschisis
CG Sauer, A Gehrig, R Warneke-Wittstock, A Marquardt, CC Ewing, ...
Nature genetics 17 (2), 164-170, 1997
5921997
Silk properties determined by gland-specific expression of a spider fibroin gene family
PA Guerette, DG Ginzinger, BHF Weber, JM Gosline
Science 272 (5258), 112-115, 1996
5511996
Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer
TR Rebbeck, N Mitra, F Wan, OM Sinilnikova, S Healey, L McGuffog, ...
Jama 313 (13), 1347-1361, 2015
5422015
Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA
LG Fritsche, T Loenhardt, A Janssen, SA Fisher, A Rivera, CN Keilhauer, ...
Nature genetics 40 (7), 892-896, 2008
4812008
A deep learning algorithm for prediction of age-related eye disease study severity scale for age-related macular degeneration from color fundus photography
F Grassmann, J Mengelkamp, C Brandl, S Harsch, ME Zimmermann, ...
Ophthalmology 125 (9), 1410-1420, 2018
4732018
Systemic complement activation in age-related macular degeneration
HPN Scholl, PC Issa, M Walier, S Janzer, B Pollok-Kopp, F Börncke, ...
PloS one 3 (7), e2593, 2008
4662008
Mutations in a Novel Gene, VMD2; Encoding a Protein of Unknown Properties Cause Juvenile-Onset Vitelliform Macular Dystrophy (Best's Disease)
A Marquardt, H Stöhr, LA Passmore, F Krämer, A Rivera, BHF Weber
Human molecular genetics 7 (9), 1517-1525, 1998
4081998
Complement C3 inhibitor pegcetacoplan for geographic atrophy secondary to age-related macular degeneration: a randomized phase 2 trial
DS Liao, FV Grossi, D El Mehdi, MR Gerber, DM Brown, JS Heier, ...
Ophthalmology 127 (2), 186-195, 2020
4032020
A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration
A Rivera, K White, H Stöhr, K Steiner, N Hemmrich, T Grimm, B Jurklies, ...
The American Journal of Human Genetics 67 (4), 800-813, 2000
3922000
cDNA cloning, genomic structure, and chromosomal localization of three members of the human fatty acid desaturase family
A Marquardt, H Stöhr, K White, BHF Weber
Genomics 66 (2), 175-183, 2000
3402000
Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk
FJ Couch, X Wang, L McGuffog, A Lee, C Olswold, KB Kuchenbaecker, ...
PLoS genetics 9 (3), e1003212, 2013
3282013
Meta-analysis of genome scans of age-related macular degeneration
SA Fisher, GR Abecasis, BM Yashar, S Zareparsi, A Swaroop, SK Iyengar, ...
Human molecular genetics 14 (15), 2257-2264, 2005
3282005
X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms
RS Molday, U Kellner, BHF Weber
Progress in retinal and eye research 31 (3), 195-212, 2012
3262012
Identification of six new susceptibility loci for invasive epithelial ovarian cancer
KB Kuchenbaecker, SJ Ramus, J Tyrer, A Lee, HC Shen, J Beesley, ...
Nature genetics 47 (2), 164-171, 2015
3062015
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Artículos 1–20