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

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

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

No association of genetic variants in TLR4, TNF-α, IL10, IFN-γ, and IL37 in cytomegalovirus-positive renal allograft recipients with active CMV infection—Subanalysis of the prospec...

por Mazzola, Pascale, Schaeffeler, Elke, Witzke, Oliver, Nitschke, Martin, Kliem, Volker, Zortel, Max, Wagner, Eva-Maria, Schwab, Matthias, Hauser, Ingeborg A.
Publicado 2021

Autosomal Dominant Gyrate Atrophy-Like Choroidal Dystrophy Revisited: 45 Years Follow-Up and Association with a Novel C1QTNF5 Missense Variant

por Kellner, Ulrich, Weisschuh, Nicole, Weinitz, Silke, Farmand, Ghazaleh, Deutsch, Sebastian, Kortüm, Friederike, Mazzola, Pascale, Schäferhoff, Karin, Marino, Valerio, Dell’Orco, Daniele
Publicado 2021

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

Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants

por Weisschuh, Nicole, Schimpf-Linzenbold, Simone, Mazzola, Pascale, Kieninger, Sinja, Xiao, Ting, Kellner, Ulrich, Neuhann, Teresa, Kelbsch, Carina, Tonagel, Felix, Wilhelm, Helmut, Kohl, Susanne, Wissinger, Bernd
Publicado 2021

DNAJC30 disease-causing gene variants in a large Central European cohort of patients with suspected Leber’s hereditary optic neuropathy and optic atrophy

por Kieninger, Sinja, Xiao, Ting, Weisschuh, Nicole, Kohl, Susanne, Rüther, Klaus, Kroisel, Peter Michael, Brockmann, Tobias, Knappe, Steffi, Kellner, Ulrich, Lagrèze, Wolf, Mazzola, Pascale, Haack, Tobias B, Wissinger, Bernd, Tonagel, Felix
Publicado 2022

Characterization of Genetic Heterogeneity in Recurrent Metastases of Renal Cell Carcinoma

por Sauter-Meyerhoff, Carolin, Bohnert, Regina, Mazzola, Pascale, Stühler, Viktoria, Kandabarau, Siarhei, Büttner, Florian A., Winter, Stefan, Herrmann, Lisa, Rausch, Steffen, Hennenlotter, Jörg, Fend, Falko, Scharpf, Marcus, Stenzl, Arnulf, Ossowski, Stephan, Bedke, Jens, Schwab, Matthias, Schaeffeler, Elke
Publicado 2021

Clinical Phenotype of PDE6B-Associated Retinitis Pigmentosa

por 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
Publicado 2021

Hepatic Expression of the Na(+)-Taurocholate Cotransporting Polypeptide Is Independent from Genetic Variation

por Tremmel, Roman, Nies, Anne T., van Eijck, Barbara A. C., Handin, Niklas, Haag, Mathias, Winter, Stefan, Büttner, Florian A., Kölz, Charlotte, Klein, Franziska, Mazzola, Pascale, Hofmann, Ute, Klein, Kathrin, Hoffmann, Per, Nöthen, Markus M., Gaugaz, Fabienne Z., Artursson, Per, Schwab, Matthias, Schaeffeler, Elke
Publicado 2022