Mapping of transcription start sites of human retina expressed genes

por Roni, Valeria, Carpio, Ronald, Wissinger, Bernd
Publicado 2007

A splice site mutation in the PAX6 gene which induces exon skipping causes autosomal dominant inherited aniridia

por Weisschuh, Nicole, Wissinger, Bernd, Gramer, Eugen
Publicado 2012

Variations in the WDR36 gene in German patients with normal tension glaucoma

por Weisschuh, Nicole, Wolf, Christiane, Wissinger, Bernd, Gramer, Eugen
Publicado 2007

Identification of a novel CRYBB2 missense mutation causing congenital autosomal dominant cataract

por Weisschuh, Nicole, Aisenbrey, Sabine, Wissinger, Bernd, Riess, Angelika
Publicado 2012

Homozygosity mapping reveals new nonsense mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in a Palestinian family

por Zobor, Ditta, Balousha, Ghassan, Baumann, Britta, Wissinger, Bernd
Publicado 2014

A 73,128 bp de novo deletion encompassing the OPN1LW/OPN1MW gene cluster in sporadic Blue Cone Monochromacy: a case report

por Buena-Atienza, Elena, Nasser, Fadi, Kohl, Susanne, Wissinger, Bernd
Publicado 2018

Rod and Cone Function in Patients with KCNV2 Retinopathy

por Zobor, Ditta, Kohl, Susanne, Wissinger, Bernd, Zrenner, Eberhart, Jägle, Herbert
Publicado 2012

Mitochondrial haplogroup U is associated with a reduced risk to develop exfoliation glaucoma in the German population

por Wolf, Christiane, Gramer, Eugen, Müller-Myhsok, Bertram, Pasutto, Francesca, Wissinger, Bernd, Weisschuh, Nicole
Publicado 2010

Novel homozygous large deletion including the 5′ part of the SPATA7 gene in a consanguineous Israeli Muslim Arab family

por Mayer, Anja-Kathrin, Mahajnah, Muhammad, Zobor, Ditta, Bonin, Michael, Sharkia, Rajech, Wissinger, Bernd
Publicado 2015

Imaging Ca(2+) Dynamics in Cone Photoreceptor Axon Terminals of the Mouse Retina

por Kulkarni, Manoj, Schubert, Timm, Baden, Tom, Wissinger, Bernd, Euler, Thomas, Paquet-Durand, Francois
Publicado 2015

In Vivo Efficacy and Safety Evaluations of Therapeutic Splicing Correction Using U1 snRNA in the Mouse Retina

por Swirski, Sebastian, May, Oliver, Ahlers, Malte, Wissinger, Bernd, Greschner, Martin, Jüschke, Christoph, Neidhardt, John
Publicado 2023

Gene and Protein Expression in Subjects With a Nystagmus-Associated AHR Mutation

por Borovok, Natalia, Weiss, Celeste, Sharkia, Rajech, Reichenstein, Michal, Wissinger, Bernd, Azem, Abdussalam, Mahajnah, Muhammad
Publicado 2020

First submicroscopic inversion of the OPA1 gene identified in dominant optic atrophy – a case report

por Weisschuh, Nicole, Mazzola, Pascale, Heinrich, Tilman, Haack, Tobias, Wissinger, Bernd, Tonagel, Felix, Kelbsch, Carina
Publicado 2020

Autosomal dominant optic atrophy: A novel treatment for OPA1 splice defects using U1 snRNA adaption

por Jüschke, Christoph, Klopstock, Thomas, Catarino, Claudia B., Owczarek-Lipska, Marta, Wissinger, Bernd, Neidhardt, John
Publicado 2021

Evaluation of nine candidate genes in patients with normal tension glaucoma: a case control study

por Wolf, Christiane, Gramer, Eugen, Müller-Myhsok, Bertram, Pasutto, Francesca, Reinthal, Eva, Wissinger, Bernd, Weisschuh, Nicole
Publicado 2009

Antisense Oligonucleotide Mediated Splice Correction of a Deep Intronic Mutation in OPA1

por Bonifert, Tobias, Gonzalez Menendez, Irene, Battke, Florian, Theurer, Yvonne, Synofzik, Matthis, Schöls, Ludger, Wissinger, Bernd
Publicado 2016

Clinical Characteristics of POC1B-Associated Retinopathy and Assignment of Pathogenicity to Novel Deep Intronic and Non-Canonical Splice Site Variants

por Weisschuh, Nicole, Mazzola, Pascale, Bertrand, Miriam, Haack, Tobias B., Wissinger, Bernd, Kohl, Susanne, Stingl, Katarina
Publicado 2021

Effective splicing restoration of a deep-intronic ABCA4 variant in cone photoreceptor precursor cells by CRISPR/SpCas9 approaches

por De Angeli, Pietro, Reuter, Peggy, Hauser, Stefan, Schöls, Ludger, Stingl, Katarina, Wissinger, Bernd, Kohl, Susanne
Publicado 2022

Development of a pharmacorphore model for pharmacological chaperones targeting mutant trafficking-deficient CNG channels

por Schärfe, Charlotta PI, Taeger, Joachim, Reuter, Peggy, Fischer, Nina M, Krüger, Jens, Wissinger, Bernd, Kohlbacher, Oliver
Publicado 2013

Foveal Therapy in Blue Cone Monochromacy: Predictions of Visual Potential From Artificial Intelligence

por Sumaroka, Alexander, Cideciyan, Artur V., Sheplock, Rebecca, Wu, Vivian, Kohl, Susanne, Wissinger, Bernd, Jacobson, Samuel G.
Publicado 2020