Search Results - "Bernd, Antje"

Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9‐year period by Weisschuh, Nicole, Obermaier, Carolin D., Battke, Florian, Bernd, Antje, Kuehlewein, Laura, Nasser, Fadi, Zobor, Ditta, Zrenner, Eberhart, Weber, Eva, Wissinger, Bernd, Biskup, Saskia, Stingl, Katarina, Kohl, Susanne

“…We aimed to unravel the molecular genetic basis of inherited retinal degeneration (IRD) in a comprehensive cohort of patients diagnosed in the largest center…”
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Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing by Weisschuh, Nicole, Mayer, Anja K, Strom, Tim M, Kohl, Susanne, Glöckle, Nicola, Schubach, Max, Andreasson, Sten, Bernd, Antje, Birch, David G, Hamel, Christian P, Heckenlively, John R, Jacobson, Samuel G, Kamme, Christina, Kellner, Ulrich, Kunstmann, Erdmute, Maffei, Pietro, Reiff, Charlotte M, Rohrschneider, Klaus, Rosenberg, Thomas, Rudolph, Günther, Vámos, Rita, Varsányi, Balázs, Weleber, Richard G, Wissinger, Bernd

“…Retinal dystrophies (RD) constitute a group of blinding diseases that are characterized by clinical variability and pronounced genetic heterogeneity. The…”
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PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome by Ebermann, Inga, Phillips, Jennifer B, Liebau, Max C, Koenekoop, Robert K, Schermer, Bernhard, Lopez, Irma, Schäfer, Ellen, Roux, Anne-Francoise, Dafinger, Claudia, Bernd, Antje, Zrenner, Eberhart, Claustres, Mireille, Blanco, Bernardo, Nürnberg, Gudrun, Nürnberg, Peter, Ruland, Rebecca, Westerfield, Monte, Benzing, Thomas, Bolz, Hanno J

“…Usher syndrome is a genetically heterogeneous recessive disease characterized by hearing loss and retinitis pigmentosa (RP). It frequently presents with…”
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Clinical Phenotype of PDE6B -Associated Retinitis Pigmentosa by Kuehlewein, Laura, Zobor, Ditta, Stingl, Katarina, Kempf, Melanie, Nasser, Fadi, Bernd, Antje, Biskup, Saskia, Cremers, Frans P M, Khan, Muhammad Imran, Mazzola, Pascale, Schäferhoff, Karin, Heinrich, Tilman, Haack, Tobias B, Wissinger, Bernd, Zrenner, Eberhart, Weisschuh, Nicole, Kohl, Susanne

“…In this retrospective, longitudinal, observational cohort study, we investigated the phenotypic and genotypic features of retinitis pigmentosa associated with…”
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Fourier Analysis of Scanning Laser Polarimetry Measurements with Variable Corneal Compensation in Glaucoma by Medeiros, Felipe A, Zangwill, Linda M, Bowd, Christopher, Bernd, Antje S, Weinreb, Robert N

“…To apply Fourier analysis to the retinal nerve fiber layer (RNFL) thickness measurements obtained with scanning laser polarimetry (SLP), by using variable…”
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Influence of Molecular Weight on Intracameral Dextran Movement to the Posterior Segment of the Mouse Eye by Bernd, Antje S, Aihara, Makoto, Lindsey, James D, Weinreb, Robert N

“…Uveoscleral outflow provides a potential pathway to the posterior segment for drug delivery. In this study, the influence of molecular weight on the…”
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Visual function and perfusion of the optic nerve head after application of centrally acting calcium-channel blockers by BOEHM, Andreas G, BREIDENBACH, Katharina A, PILLUNAT, Lutz E, BERND, Antje S, MUELLER, Matthias F, KOELLER, Andrea U

“…In a previous study it was shown that nimodipine 30 mg twice daily leads to an improvement in the visual field in a subgroup of normal-pressure glaucoma…”
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Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies by Glöckle, Nicola, Kohl, Susanne, Mohr, Julia, Scheurenbrand, Tim, Sprecher, Andrea, Weisschuh, Nicole, Bernd, Antje, Rudolph, Günther, Schubach, Max, Poloschek, Charlotte, Zrenner, Eberhart, Biskup, Saskia, Berger, Wolfgang, Wissinger, Bernd, Neidhardt, John

“…Hereditary retinal dystrophies (RD) constitute a group of blinding diseases that are characterized by clinical variability and pronounced genetic…”
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Limitations of imaging choroidal tumors in vivo by optical coherence tomography by SCHAUDIG, U, HASSENSTEIN, A, BERND, A, WALTER, A, RICHARD, G

“…Optical coherence tomography (OCT) produces two-dimensional cross-sectional images with a longitudinal resolution of 10 microns. Its capacity for imaging…”
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TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness by Audo, Isabelle, Kohl, Susanne, Leroy, Bart P., Munier, Francis L., Guillonneau, Xavier, Mohand-Saïd, Saddek, Bujakowska, Kinga, Nandrot, Emeline F., Lorenz, Birgit, Preising, Markus, Kellner, Ulrich, Renner, Agnes B., Bernd, Antje, Antonio, Aline, Moskova-Doumanova, Veselina, Lancelot, Marie-Elise, Poloschek, Charlotte M., Drumare, Isabelle, Defoort-Dhellemmes, Sabine, Wissinger, Bernd, Léveillard, Thierry, Hamel, Christian P., Schorderet, Daniel F., De Baere, Elfride, Berger, Wolfgang, Jacobson, Samuel G., Zrenner, Eberhart, Sahel, José-Alain, Bhattacharya, Shomi S., Zeitz, Christina

“…Night vision requires signaling from rod photoreceptors to adjacent bipolar cells in the retina. Mutations in the genes NYX and GRM6, expressed in ON bipolar…”
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IQCB1 mutations in patients with leber congenital amaurosis by Estrada-Cuzcano, Alejandro, Koenekoop, Robert K, Coppieters, Frauke, Kohl, Susanne, Lopez, Irma, Collin, Rob W J, De Baere, Elfride B W, Roeleveld, Debbie, Marek, Jonah, Bernd, Antje, Rohrschneider, Klaus, van den Born, L Ingeborgh, Meire, Françoise, Maumenee, Irene H, Jacobson, Samuel G, Hoyng, Carel B, Zrenner, Eberhart, Cremers, Frans P M, den Hollander, Anneke I

“…Leber congenital amaurosis (LCA) is genetically heterogeneous, with 15 genes identified thus far, accounting for ∼70% of LCA patients. The aim of the present…”
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Angle-closure glaucoma associated with ciliary body detachment in patients using topiramate by Medeiros, Felipe A, Zhang, Xiaoyan Y, Bernd, Antje S, Weinreb, Robert N

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Visual acuity changes in cone and cone-rod dystrophies by Prokofyeva, Elena, Troeger, Eric, Bernd, Antje, Zrenner, Eberhart

“…Citation information: Prokofyeva E, Troeger E, Bernd A & Zrenner E. Visual acuity changes in cone and cone‐rod dystrophies. Ophthalmic Physiol Opt 2011. doi:…”
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Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response by Wissinger, Bernd, Schaich, Simone, Baumann, Britta, Bonin, Michael, Jägle, Herbert, Friedburg, Christoph, Varsányi, Balázs, Hoyng, Carel B., Dollfus, Hélène, Heckenlively, John R., Rosenberg, Thomas, Rudolph, Günter, Kellner, Ulrich, Salati, Roberto, Plomp, Astrid, De Baere, Elfride, Andrassi-Darida, Monika, Sauer, Alexandra, Wolf, Christiane, Zobor, Ditta, Bernd, Antje, Leroy, Bart P., Enyedi, Péter, Cremers, Frans P.M., Lorenz, Birgit, Zrenner, Eberhart, Kohl, Susanne

“…Cone dystrophy with supernormal rod response (CDSRR) is considered to be a very rare autosomal recessive retinal disorder. CDSRR is associated with mutations…”
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Visual acuity changes in cone and cone-rod dystrophies: Ocular Epidemiology and Genetics by PROKOFYEVA, Elena, TROEGER, Eric, BERND, Antje, ZRENNER, Eberhart

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ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies by KITIRATSCHKY, Veronique B. D, GRAU, Tanja, SCHAICH, Simone, KOHL, Susanne, WISSINGER, Bernd, BERND, Antje, ZRENNER, Eberhart, JÄGLE, Herbert, RENNER, Agnes B, KELLNER, Ulrich, RUDOLPH, Günther, JACOBSON, Samuel G, CIDECIYAN, Artur V

“…The ATP-binding cassette (ABC) transporters constitute a family of large membrane proteins, which transport a variety of substrates across membranes. The ABCA4…”
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Correlation between spectral domain OCT retinal nerve fibre layer thickness and multifocal pattern electroretinogram in advanced retinitis pigmentosa by Sliesoraityte, Ieva, Troeger, Eric, Bernd, Antje, Kurtenbach, Anne, Zrenner, Eberhart

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Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing: e0145951 by Weisschuh, Nicole, Mayer, Anja K, Strom, Tim M, Kohl, Susanne, Glockle, Nicola, Schubach, Max, Andreasson, Sten, Bernd, Antje, Birch, David G, Hamel, Christian P

“…Retinal dystrophies (RD) constitute a group of blinding diseases that are characterized by clinical variability and pronounced genetic heterogeneity. The…”
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PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome by Ebermann, Inga, Phillips, Jennifer B., Liebau, Max C., Koenekoop, Robert K., Schermer, Bernhard, Lopez, Irma, Schäfer, Ellen, Roux, Anne-Francoise, Dafinger, Claudia, Bernd, Antje, Zrenner, Eberhart, Claustres, Mireille, Blanco, Bernardo, Nürnberg, Gudrun, Nürnberg, Peter, Ruland, Rebecca, Westerfield, Monte, Benzing, Thomas, Bolz, Hanno J.

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Using Unsupervised Learning with Variational Bayesian Mixture of Factor Analysis to Identify Patterns of Glaucomatous Visual Field Defects by Sample, Pamela A, Chan, Kwokleung, Boden, Catherine, Lee, Te-Won, Blumenthal, Eytan Z, Weinreb, Robert N, Bernd, Antje, Pascual, John, Hao, Jiucang, Sejnowski, Terrence, Goldbaum, Michael H

“…To determine whether an unsupervised machine learning classifier can identify patterns of visual field loss in standard visual fields consistent with typical…”
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