Influence of Systematic Gaze Patterns in Navigation and Search Tasks with Simulated Retinitis Pigmentosa

por Neugebauer, Alexander, Stingl, Katarina, Ivanov, Iliya, Wahl, Siegfried
Publicado 2021

The VA-CAL Test Quantifies Improvement of Visual Acuity in Achromatopsia by Means of Short-Wave Cutoff Filter Glasses in Daily Living Conditions

por Hilmers, Julian, Bach, Michael, Stingl, Katarina, Zrenner, Eberhart, Straßer, Torsten
Publicado 2023

An early onset cone dystrophy due to CEP290 mutation: a case report

por Binder, Anastasia, Kohl, Susanne, Grasshoff, Ute, Schäferhoff, Karin, Stingl, Katarina
Publicado 2023

Quantification of the Dynamic Visual Acuity Space at Real-World Luminances and Contrasts: The VA-CAL Test

por Hilmers, Julian, Straßer, Torsten, Bach, Michael, Stingl, Katarina, Zrenner, Eberhart
Publicado 2022

The influence of tumor necrosis factor microsatellite polymorphisms on patient survival following hematopoietic stem cell transplantation

por Štingl, Katarina, Žunec, Renata, Serventi-Seiwerth, Ranka, Labar, Boris, Grubić, Zorana
Publicado 2012

Application of microsatellite loci on the chromosome X for rapid prenatal detection of the chromosome X numerical abnormalities

por Crkvenac Gornik, Kristina, Grubić, Zorana, Štingl, Katarina, Tonković Đurišević, Ivana, Begović, Davor
Publicado 2011

Ataluren for the Treatment of Usher Syndrome 2A Caused by Nonsense Mutations

por Samanta, Ananya, Stingl, Katarina, Kohl, Susanne, Ries, Jessica, Linnert, Joshua, Nagel-Wolfrum, Kerstin
Publicado 2019

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

Photoreceptor-Specific Temporal Contrast Sensitivities in RP1L1-Associated Occult Macular Dystrophy

por Huchzermeyer, Cord, Fars, Julien, Kremers, Jan, Kühlewein, Laura, Kempf, Melanie, Ott, Saskia, Stingl, Krunoslav, Stingl, Katarina
Publicado 2023

Normal Values for the Full Visual Field, Corrected for Age- and Reaction Time, Using Semiautomated Kinetic Testing on the Octopus 900 Perimeter

por Grobbel, Julia, Dietzsch, Janko, Johnson, Chris A., Vonthein, Reinhard, Stingl, Katarina, Weleber, Richard G., Schiefer, Ulrich
Publicado 2016

X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants in RPGR

por Kortüm, Friederike, Kieninger, Sinja, Mazzola, Pascale, Kohl, Susanne, Wissinger, Bernd, Prokisch, Holger, Stingl, Katarina, Weisschuh, Nicole
Publicado 2021

Characterization of a novel non‐canonical splice site variant (c.886‐5T>A) in NBAS and description of the associated phenotype

por Priglinger, Claudia S., Rudolph, Günter, Schmid, Irene, Mazzola, Pascale, Haack, Tobias B., Reith, Milda, Stingl, Katarina, Weisschuh, Nicole
Publicado 2022

The Usher syndrome 1C protein harmonin regulates canonical Wnt signaling

por Schäfer, Jessica, Wenck, Nicole, Janik, Katharina, Linnert, Joshua, Stingl, Katarina, Kohl, Susanne, Nagel-Wolfrum, Kerstin, Wolfrum, Uwe
Publicado 2023

Oscillatory Potentials in Achromatopsia as a Tool for Understanding Cone Retinal Functions

por Righetti, Giulia, Kempf, Melanie, Braun, Christoph, Jung, Ronja, Kohl, Susanne, Wissinger, Bernd, Zrenner, Eberhart, Stingl, Katarina, Stingl, Krunoslav
Publicado 2021

Disease expression caused by different variants in the BEST1 gene: genotype and phenotype findings in bestrophinopathies

por Nowomiejska, Katarzyna, Nasser, Fadi, Stingl, Katarina, Schimpf-Linzenbold, Simone, Biskup, Saskia, Brzozowska, Agnieszka, Rejdak, Robert, Kohl, Susanne, Zrenner, Eberhart
Publicado 2022

Objective Measurement of Local Rod and Cone Function Using Gaze-Controlled Chromatic Pupil Campimetry in Healthy Subjects

por Kelbsch, Carina, Stingl, Katarina, Kempf, Melanie, Strasser, Torsten, Jung, Ronja, Kuehlewein, Laura, Wilhelm, Helmut, Peters, Tobias, Wilhelm, Barbara, Stingl, Krunoslav
Publicado 2019

Molecular Properties of Human Guanylate Cyclase-Activating Protein 3 (GCAP3) and Its Possible Association with Retinitis Pigmentosa

por Avesani, Anna, Bielefeld, Laura, Weisschuh, Nicole, Marino, Valerio, Mazzola, Pascale, Stingl, Katarina, Haack, Tobias B., Koch, Karl-Wilhelm, Dell’Orco, Daniele
Publicado 2022

Ophthalmic and Genetic Features of Bardet Biedl Syndrome in a German Cohort

por Nasser, Fadi, Kohl, Susanne, Kurtenbach, Anne, Kempf, Melanie, Biskup, Saskia, Zuleger, Theresia, Haack, Tobias B., Weisschuh, Nicole, Stingl, Katarina, Zrenner, Eberhart
Publicado 2022

CDHR1 mutations in retinal dystrophies

por Stingl, Katarina, Mayer, Anja K., Llavona, Pablo, Mulahasanovic, Lejla, Rudolph, Günther, Jacobson, Samuel G., Zrenner, Eberhart, Kohl, Susanne, Wissinger, Bernd, Weisschuh, Nicole
Publicado 2017