Seuraa
Birgit Lorenz
Birgit Lorenz
Professor für Augenheilkunde und Ophthalmogenetik, Justus-Liebig-Universität Gießen, Deutschland
Vahvistettu sähköpostiosoite verkkotunnuksessa uniklinikum-giessen.de - Kotisivu
Nimike
Viittaukset
Viittaukset
Vuosi
Mutations in RPE65 cause autosomal recessive childhood–onset severe retinal dystrophy
S Gu, DA Thompson, CRS Srikumari, B Lorenz, U Finckh, A Nicoletti, ...
Nature genetics 17 (2), 194-197, 1997
7431997
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
Retinal layer segmentation in multiple sclerosis: a systematic review and meta-analysis
A Petzold, LJ Balcer, PA Calabresi, F Costello, TC Frohman, EM Frohman, ...
The Lancet Neurology 16 (10), 797-812, 2017
4732017
Mutation spectrum and splicing variants in the OPA1 gene
C Delettre, JM Griffoin, J Kaplan, H Dollfus, B Lorenz, L Faivre, G Lenaers, ...
Human genetics 109 (6), 584-591, 2001
4512001
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
CNGA3 mutations in hereditary cone photoreceptor disorders
B Wissinger, D Gamer, H Jägle, R Giorda, T Marx, S Mayer, S Tippmann, ...
The American Journal of Human Genetics 69 (4), 722-737, 2001
3552001
Heterozygous mutations of OTX2 cause severe ocular malformations
NK Ragge, AG Brown, CM Poloschek, B Lorenz, RA Henderson, ...
The American Journal of Human Genetics 76 (6), 1008-1022, 2005
3352005
Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration
DA Thompson, P Gyürüs, LL Fleischer, EL Bingham, CL McHenry, ...
Investigative ophthalmology & visual science 41 (13), 4293-4299, 2000
3022000
FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation
E De Baere, D Beysen, C Oley, B Lorenz, J Cocquet, P De Sutter, ...
The American Journal of Human Genetics 72 (2), 478-487, 2003
2912003
Mutations in the cone photoreceptor G-protein α-subunit gene GNAT2 in patients with achromatopsia
S Kohl, B Baumann, T Rosenberg, U Kellner, B Lorenz, M Vadala, ...
The American Journal of Human Genetics 71 (2), 422-425, 2002
2862002
TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness
I Audo, S Kohl, BP Leroy, FL Munier, X Guillonneau, S Mohand-Saïd, ...
The American Journal of Human Genetics 85 (5), 720-729, 2009
2732009
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 …
F Krämer, K White, D Pauleikhoff, A Gehrig, L Passmore, A Rivera, ...
European Journal of Human Genetics 8 (4), 286-292, 2000
2692000
SOX2 anophthalmia syndrome
NK Ragge, B Lorenz, A Schneider, K Bushby, L de Sanctis, U de Sanctis, ...
American journal of medical genetics Part A 135 (1), 1-7, 2005
2642005
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia
S Kohl, B Varsanyi, GA Antunes, B Baumann, CB Hoyng, H Jägle, ...
European Journal of Human Genetics 13 (3), 302-308, 2005
2632005
Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification
C Tasse, S Böhringer, S Fischer, HJ Lüdecke, B Albrecht, D Horn, ...
European journal of medical genetics 48 (4), 397-411, 2005
2592005
Early-onset severe rod–cone dystrophy in young children with RPE65 mutations
B Lorenz, P Gyürüs, M Preising, D Bremser, S Gu, M Andrassi, C Gerth, ...
Investigative ophthalmology & visual science 41 (9), 2735-2742, 2000
2532000
BIGH3 mutation spectrum in corneal dystrophies
FL Munier, BE Frueh, P Othenin-Girard, S Uffer, P Cousin, MX Wang, ...
Investigative ophthalmology & visual science 43 (4), 949-954, 2002
2462002
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies
T Eisenberger, C Neuhaus, AO Khan, C Decker, MN Preising, ...
PloS one 8 (11), 2013
2392013
Wide-field digital imaging based telemedicine for screening for acute retinopathy of prematurity (ROP). Six-year results of a multicentre field study
B Lorenz, K Spasovska, H Elflein, N Schneider
Graefe's Archive for Clinical and Experimental Ophthalmology 247 (9), 1251-1262, 2009
2022009
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Artikkelit 1–20