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Brandl, Caroline
, Günther, Felix, Zimmermann, Martina E.
, Hartmann, Kathrin I., Eberlein, Gregor, Barth, Teresa
, Winkler, Thomas W.
, Linkohr, Birgit
, Heier, Margit, Peters, Annette
, Li, Jeany Q.
, Finger, Robert P.
, Helbig, Horst, Weber, Bernhard H. F.
, Küchenhoff, Helmut
, Mueller, Arthur, Stark, Klaus J. and Heid, Iris M.
(2022)
Incidence, progression and risk factors of age-related macular degeneration in 35–95-year-old individuals from three jointly designed German cohort studies.
BMJ Open Ophthalmology 2022 (7), pp. 1-11.
Fritsch, Jürgen
, Frankenheim, Julia, Marischen, Lothar, Vadasz, Timea
, Troeger, Anja, Rose-John, Stefan
, Schmidt-Arras, Dirk
and Schneider-Brachert, Wulf
(2021)
Roles for ADAM17 in TNF-R1 Mediated Cell Death and Survival in Human U937 and Jurkat Cells.
Cells 10 (11), pp. 1-17.
, Wagner, Siegfried K., Martus, Peter, MacLaren, Robert E., Wilhelm, Barbara, Webster, Andrew R., Downes, Susan M., Charbel Issa, Peter, Kellner, Ulrich, Jägle, Herbert, Rüther, Klaus, Bertelsen, Mette, Bragadóttir, Ragnheiður, Prener Holtan, Josephine, van den Born, L. Ingeborgh, Sodi, Andrea, Virgili, Gianni, Gosheva, Mariya, Pach, Johanna, Zündorf, Ida, Zrenner, Eberhart and Gekeler, Florian
(2019)
Transcorneal Electrical Stimulation for the Treatment of Retinitis Pigmentosa: A Multicenter Safety Study of the OkuStim® System (TESOLA-Study).
Ophthalmic Research 63 (3), pp. 234-243.
Fulltext not available.
(2018)
EFFECT OF PATIENTS' CLINICAL INFORMATION ON THE DIAGNOSIS OF AND DECISION TO TREAT RETINOPATHY OF PREMATURITY.
Retina 38 (11), pp. 2253-2259.
Fulltext not available.
, Jägle, Herbert and Thompson, Dorothy A.
(2016)
Full-field electroretinogram in autism spectrum disorder.
Documenta Ophthalmologica 132 (2), pp. 83-99.
Fulltext not available.
, Corbacioglu, Selim and Debatin, Klaus-Michael
(2014)
Transitory dasatinib-resistant states in KITmut t(8;21) acute myeloid leukemia cells correlate with altered KIT expression.
Experimental Hematology 42 (2), pp. 90-100.
Fulltext not available.
, Langrová, Hana
, Messias, Andre
, Zrenner, Eberhart and Jägle, Herbert
(2013)
A comparison of the performance of three visual evoked potential-based methods to estimate visual acuity.
Documenta Ophthalmologica 126 (1), pp. 45-56.
Fulltext not available.
, Ohlmann, Andreas, Koch, Marcus, Tanimoto, Naoyuki, Volz, Cornelia, Yang, Ying, Bösl, Michael R., Cvekl, Ales, Jägle, Herbert, Seeliger, Mathias W. and Tamm, Ernst R.
(2013)
Constitutive overexpression of Norrin activates Wnt/β-catenin and endothelin-2 signaling to protect photoreceptors from light damage.
Neurobiology of Disease 50, pp. 1-12.
Fulltext not available.
, Shao, Yibin, Seeliger, Mathias W., Haverkamp, Silke, Jägle, Herbert, Logothetis, Nikos K. and Smirnakis, Stelios M.
(2012)
Detailed functional and structural characterization of a macular lesion in a rhesus macaque.
Documenta Ophthalmologica 125 (3), pp. 179-194.
Fulltext not available.
, Kohl, Susanne, Wissinger, Bernd, Zrenner, Eberhart and Jägle, Herbert
(2012)
Rod and Cone Function in Patients with KCNV2 Retinopathy.
PLoS ONE 7 (10), e46762.
Fulltext not available.
Hartl, Janine
(2011)
Funktionelle Auswirkungen bei X-chromosomaler Retinoschisis – Untersuchungen bei Patienten mit nachgewiesener Mutation im XLRS1-Gen.
PhD, Universität Regensburg.
and Lorenz, Birgit
(2011)
Long-Term Follow-Up of the Human Phenotype in Three Siblings with Cone Dystrophy Associated with a Homozygousp.G461RMutation ofKCNV2.
Investigative Opthalmology & Visual Science 52 (12), p. 8621.
Fulltext not available.
Oberacher-Velten, Isabel, Prasser, Christopher, Rochon, Justine, Ittner, Karl-Peter, Helbig, Horst and Lorenz, Birgit
(2011)
The effects of midazolam on intraocular pressure in children during examination under sedation.
British Journal of Ophthalmology 95, pp. 1102-1105.
Wilscher, Stephanie
(2010)
Statische und kinetische Gesichtsfelduntersuchung bei Kindern mittels verschiedener Strategien.
PhD, Universität Regensburg.
, Preising, Markus, Lorenz, Birgit, Sander, Birgit, Larsen, Michael
, Eckstein, Christoph and Rosenberg, Thomas
(2010)
LACK OF AUTOFLUORESCENCE IN FUNDUS ALBIPUNCTATUS ASSOCIATED WITH MUTATIONS IN RDH5.
Retina 30 (10), pp. 1704-1713.
Fulltext not available.
Willer, Mario
(2009)
Molekulargenetische Untersuchungen zur Expression von Sequenzveränderungen im REP-1-Gen bei heterozygoten Trägerinnen.
PhD, Universität Regensburg.
and Simonsz, H J
(2009)
A randomised comparison of bilateral recession versus unilateral recession-resection as surgery for infantile esotropia.
British Journal of Ophthalmology 93 (7), pp. 954-957.
Fulltext not available.
(2008)
A Comprehensive Clinical and Biochemical Functional Study of a NovelRPE65Hypomorphic Mutation.
Investigative Opthalmology & Visual Science 49 (12), p. 5235.
Fulltext not available.
, Gabel, Veit-Peter, Blunk, Torsten and Goepferich, Achim
(2007)
Ascorbic Acid Modulates Proliferation and Extracellular Matrix Accumulation of Hyalocytes.
Tissue Engineering 13 (6), pp. 1281-1289.
Fulltext not available.
, Hever, Ann, Lorenz, Birgit, Schneider, Adele, Williamson, Kathleen A., Stevens, John M., Free, Samantha L., Thompson, Pamela J., van Heyningen, Veronica
and Fitzpatrick, David R.
(2006)
Role of SOX2 mutations in human hippocampal malformations and epilepsy.
Epilepsia 47 (3), pp. 534-542.
Fulltext restricted.
, Lorenz, Birgit, Preising, Markus and Seufert, Petra S.
(2006)
Assessment of Cortical Visual Field Representations with Multifocal VEPs in Control Subjects, Patients with Albinism, and Female Carriers of Ocular Albinism.
Investigative Opthalmology & Visual Science 47 (7), p. 3195.
Fulltext not available.
, van den Hurk, José A.J.M., Cremers, Frans P.M.
and Foerster, Michael H.
(2006)
Choroideremia: Variability of Clinical and Electrophysiological Characteristics and First Report of a Negative Electroretinogram.
Ophthalmology 113 (11), 2066-2073.e2.
Fulltext not available.
and Westall, Carol A.
(2006)
Pediatric clinical visual electrophysiology: a survey of actual practice.
Documenta Ophthalmologica 113 (3), pp. 193-204.
Fulltext not available.
, Varsanyi, Balazs, Antunes, Gesine Abadin, Baumann, Britta, Hoyng, Carel B, Jägle, Herbert, Rosenberg, Thomas, Kellner, Ulrich, Lorenz, Birgit, Salati, Roberto, Jurklies, Bernhard, Farkas, Agnes, Andreasson, Sten, Weleber, Richard G, Jacobson, Samuel G
, Rudolph, Günther, Castellan, Claudio, Dollfus, Helene, Legius, Eric, Anastasi, Mario, Bitoun, Pierre
, Lev, Dorit, Sieving, Paul A, Munier, Francis L, Zrenner, Eberhart, Sharpe, Lindsay T, Cremers, Frans P M
and Wissinger, Bernd
(2005)
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.
European Journal of Human Genetics 13 (3), pp. 302-308.
Fulltext not available.
, Maumenee, Irene, Koenekoop, Robert K. and Allikmets, Rando
(2005)
Genotyping Microarray (Disease Chip) for Leber Congenital Amaurosis: Detection of Modifier Alleles.
Investigative Opthalmology & Visual Science 46 (9), p. 3052.
Fulltext not available.
, Ruddle, Piers, Hurst, Jane, Collin, J. Richard O., Salt, Alison, Cooper, Simon T., Thompson, Pamela J., Sisodiya, Sanjay M., Williamson, Kathleen A., FitzPatrick, David R.
, Heyningen, Veronica van
and Hanson, Isabel M.
(2005)
Heterozygous Mutations of OTX2 Cause Severe Ocular Malformations.
The American Journal of Human Genetics 76 (6), pp. 1008-1022.
Fulltext not available.
, Lorenz, Birgit, Morland, Antony B.
and Schmidtborn, Linda C.
(2005)
Misrouting of the Optic Nerves in Albinism: Estimation of the Extent with Visual Evoked Potentials.
Investigative Opthalmology & Visual Science 46 (10), p. 3892.
Fulltext not available.
, Fischer, Sven, Lüdecke, Hermann-Josef, Albrecht, Beate, Horn, Denise, Janecke, Andreas
, Kling, Rainer, König, Rainer, Lorenz, Birgit, Majewski, Frank, Maeyens, Elisabeth, Meinecke, Peter, Mitulla, Beate, Mohr, Christopher, Preischl, Monika, Umstadt, Horst, Kohlhase, Jürgen, Gillessen-Kaesbach, Gabriele and Wieczorek, Dagmar
(2005)
Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification.
European Journal of Medical Genetics 48 (4), pp. 397-411.
Fulltext not available.
(2003)
An unusual retinal vascular morphology in connection with a novel AIPL1 mutation in Leber's congenital amaurosis.
British Journal of Ophthalmology 87 (8), pp. 980-983.
Fulltext not available.
, De Paepe, Anne, Veitia, Reiner and Messiaen, Ludwine
(2003)
FOXL2 and BPES: Mutational Hotspots, Phenotypic Variability, and Revision of the Genotype-Phenotype Correlation.
The American Journal of Human Genetics 72 (2), pp. 478-487.
Fulltext not available.
(2003)
X-linked Retinitis Pigmentosa:RPGRMutations in Most Families with Definite X Linkage and Clustering of Mutations in a Short Sequence Stretch of Exon ORF15.
Investigative Opthalmology & Visual Science 44 (4), p. 1458.
Fulltext not available.
, La O Cabrera, Alicia, Rudolph, G�nther, Lorenz, Birgit, Schwinger, Eberhard and Gal, Andreas
(2002)
Identification and in vitro expression of novelCDH23 mutations of patients with Usher syndrome type 1D.
Human Mutation 19 (3), pp. 268-273.
Fulltext not available.
, Baumann, Britta, Rosenberg, Thomas, Kellner, Ulrich, Lorenz, Birgit, Vadalà, Maria, Jacobson, Samuel G.
and Wissinger, Bernd
(2002)
Mutations in the Cone Photoreceptor G-Protein α-Subunit Gene GNAT2 in Patients with Achromatopsia.
The American Journal of Human Genetics 71 (2), pp. 422-425.
Fulltext not available.
and Lorenz, B.
(2002)
Phenotypes of 16 Stargardt macular dystrophy/fundus flavimaculatus patients with known ABCA4 mutations and evaluation of genotype–phenotype correlation.
Graefe's Archive for Clinical and Experimental Ophthalmology 240, pp. 628-638.
Fulltext not available.
, Wissinger, B., Meindl, A. and Pusch, C. M.
(2002)
Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina.
European Journal of Human Genetics 10 (8), pp. 449-456.
Fulltext not available.
, Marx, Tim, Mayer, Simone, Tippmann, Sabine, Broghammer, Martina, Jurklies, Bernhard, Rosenberg, Thomas, Jacobson, Samuel G.
, Sener, E. Cumhur, Tatlipinar, Sinan, Hoyng, Carel B., Castellan, Claudio, Bitoun, Pierre
, Andreasson, Sten, Rudolph, Günter, Kellner, Ulrich, Lorenz, Birgit, Wolff, Gerhard, Verellen-Dumoulin, Christine, Schwartz, Marianne, Cremers, Frans P.M.
, Apfelstedt-Sylla, Eckart, Zrenner, Eberhart, Salati, Roberto, Sharpe, Lindsay T. and Kohl, Susanne
(2001)
CNGA3 Mutations in Hereditary Cone Photoreceptor Disorders.
The American Journal of Human Genetics 69 (4), pp. 722-737.
Fulltext not available.
, Bergen, Arthur, Bitoun, Pierre
, Charles, Stephen, Clementi, Maurizio, Gosselin, Richard, Hurst, Jane, Lewis, Richard, Lorenz, Birgit, Meitinger, Thomas
, Messiaen, Ludwine, Ramesar, Rajkumar
, Ballabio, Andrea and Schiaffino, M.
(2001)
Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America.
Human Genetics 108 (1), pp. 51-54.
Fulltext not available.
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