Browsing Universitätsbibliographie by Author "Mazzola, Pascale"

Now showing items 1-11 of 11

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

Kellner, Ulrich; Weisschuh, Nicole; Weinitz, Silke; Farmand, Ghazaleh; Deutsch, Sebastian; Kortum, Friederike; Mazzola, Pascale; Schaferhoff, Karin; Marino, Valerio; Dell'Orco, Daniele (2021)
Characterization of a novel non-canonical splice site variant (c.886-5T>A) in NBAS and description of the associated phenotype

Priglinger, Claudia S.; Rudolph, Guenter; Schmid, Irene; Mazzola, Pascale; Haack, Tobias B.; Reith, Milda; Stingl, Katarina; Weisschuh, Nicole (2023)
Clinical Characteristics of POC1B-Associated Retinopathy and Assignment of Pathogenicity to Novel Deep Intronic and Non-Canonical Splice Site Variants

Weisschuh, Nicole; Mazzola, Pascale; Bertrand, Miriam; Haack, Tobias B.; Wissinger, Bernd; Kohl, Susanne; Stingl, Katarina (2021)
Clinical phenotype of PDE6B-associated retinitis pigmentosa

Kuehlewein, Laura; Zobor, Ditta; Stingl, Katarina; Kempf, Melanie; Nasser, Fadi; Bernd, Antje; Biskup, Saskia; Cremers, Frans P. M.; Khan, Muhammad Imran; Mazzola, Pascale; Schaeferhoff, Karin; Heinrich, Tilman; Haack, Tobias B.; Wissinger, Bernd; Zrenner, Eberhart; Weisschuh, Nicole; Kohl, Susanne (2021)
Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases

Weisschuh, Nicole; Mazzola, Pascale; Zuleger, Theresia; Schaeferhoff, Karin; Kuehlewein, Laura; Kortuem, Friederike; Witt, Dennis; Liebmann, Alexandra; Falb, Ruth; Pohl, Lisa; Reith, Milda; Stuehn, Lara G.; Bertrand, Miriam; Mueller, Amelie; Casadei, Nicolas; Kelemen, Olga; Kelbsch, Carina; Kernstock, Christoph; Richter, Paul; Sadler, Francoise; Demidov, German; Schuetz, Leon; Admard, Jakob; Sturm, Marc; Grasshoff, Ute; Tonagel, Felix; Heinrich, Tilman; Nasser, Fadi; Wissinger, Bernd; Ossowski, Stephan; Kohl, Susanne; Riess, Olaf; Stingl, Katarina; Haack, Tobias B. (2024)
First submicroscopic inversion of the OPA1 gene identified in dominant optic atrophy - a case report

Weisschuh, Nicole; Mazzola, Pascale; Heinrich, Tilman; Haack, Tobias; Wissinger, Bernd; Tonagel, Felix; Kelbsch, Carina (2020)
Hepatic Expression of the Na+-Taurocholate Cotransporting Polypeptide Is Independent from Genetic Variation

Tremmel, Roman; Nies, Anne T.; van Eijck, Barbara A. C.; Handin, Niklas; Haag, Mathias; Winter, Stefan; Buettner, Florian A.; Koelz, Charlotte; Klein, Franziska; Mazzola, Pascale; Hofmann, Ute; Klein, Kathrin; Hoffmann, Per; Nothen, Markus M.; Gaugaz, Fabienne Z.; Artursson, Per; Schwab, Matthias; Schaeffeler, Elke (2022)
Molecular Properties of Human Guanylate Cyclase-Activating Protein 3 (GCAP3) and Its Possible Association with Retinitis Pigmentosa

Avesani, Anna; Bielefeld, Laura; Weisschuh, Nicole; Marino, Valerio; Mazzola, Pascale; Stingl, Katarina; Haack, Tobias B.; Koch, Karl-Wilhelm; Dell'Orco, Daniele (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

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 (2021)
No association of genetic variants in TLR4, TNF-alpha, IL10, IFN-gamma, and IL37 in cytomegalovirus-positive renal allograft recipients with active CMV infection-Subanalysis of the prospective randomised VIPP study

Mazzola, Pascale; Schaeffeler, Elke; Witzke, Oliver; Nitschke, Martin; Kliem, Volker; Zortel, Max; Wagner, Eva-Maria; Schwab, Matthias; Hauser, Ingeborg A. (2021)
X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants in RPGR

Kortum, Friederike; Kieninger, Sinja; Mazzola, Pascale; Kohl, Susanne; Wissinger, Bernd; Prokisch, Holger; Stingl, Katarina; Weisschuh, Nicole (2021)

Now showing items 1-11 of 11

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