Items where Division is "Medicine > Lehrstuhl für Humangenetik" and Year is 2023

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Berber, Patricia and Milenkovic, Andrea and Kiel, Christina and Michaelis, Lisa and Strunz, Tobias and Brandl, Caroline and Weber, Bernhard (2023) Patient-derived Retinal Organoid as a Disease Model for Adult-Onset Retinitis Pigmentosa 1. In: 55th European-Society of Human Genetics (ESHG) Conference, June 11-14, 2022, Vienna, Austria.

Biasella, Fabiola and Ploessl, Karolina and Baird, Paul N. and Weber, Bernhard H. F. (2023) The extracellular microenvironment in immune dysregulation and inflammation in retinal disorders. FRONTIERS IN IMMUNOLOGY, 14: 1147037. ISSN 1664-3224

Brock, Stefanie and Laquerriere, Annie and Marguet, Florent and Myers, Scott J. and Hongjie, Yuan and Baralle, Diana and Vanderhasselt, Tim and Stouffs, Katrien and Keymolen, Kathelijn and Kim, Sukhan and Allen, James and Shaulsky, Gil and Chelly, Jamel and Marcorelle, Pascale and Aziza, Jacqueline and Villard, Laurent and Sacaze, Elise and de Wit, Marie C. Y. and Wilke, Martina and Mancini, Grazia Maria Simonetta and Hehr, Ute and Lim, Derek and Mansour, Sahar and Traynelis, Stephen F. and Beneteau, Claire and Denis-Musquer, Marie and Jansen, Anna C. and Fry, Andrew E. and Bahi-Buisson, Nadia (2023) Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B. JOURNAL OF MEDICAL GENETICS, 60 (2). pp. 183-192. ISSN 0022-2593, 1468-6244

Brunet, Theresa and Lieftuechter, Victoria and Lenz, Dominic and Peters, Philipp and Kopajtich, Robert and Zott, Benedikt and Zimmermann, Hanna and Huening, Irina and Ballhausen, Diana and Staufner, Christian and Bianzano, Alyssa and Hughes, Joanne and Taylor, Robert and McFarland, Robert and Zigman, Tamara and Ramadza, Danijela Petkovic and Meino, Rohlfs and Hehr, Ute and Sondheimer, Neal and Hewson, Stacy and Marinakis, Nikolaos and Kosma, Konstantina and Traeger-Synodinos, Jan and Prokisch, Holger and Meitinger, Thomas and Borggraefe, Ingo and Spiegler, Juliane and Baric, Ivo and Paolini, Marco and Gerstl, Lucia and Wagner, Matias (2023) Specific de novo variants in RNF213 cause a monogenic early-onset multisystemic disease ranging from childhood stroke to Leigh-like syndrome. In: 55th European-Society of Human Genetics (ESHG) Conference, June 11-14, 2022, Vienna, Austria.

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Fastenmeier, C. and Schnabel, A. and Hehr, U. and Koeninger, A. (2023) Case Presentation Opitz G/BBB Syndrome Type I(heterozygous). In: Gemeinsamer Kongress der Bayerischen Gesellschaft für Geburtshilfe und Frauenheilkunde (BGGF) und der Österreichischen Gesellschaft für Gynäkologie und Geburtshilfe (OEGGG) 2023, 23.–24.06.2023, Würzburg.

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Hoffmann, Laura and Hufendiek, Karsten and Hohberger, Bettina and Mardin, Christian and Hosari, Sami and Wiezorrek, Mareile and Jacobsen, Christina and Stoehr, Heidi and Neuhann, Teresa and Framme, Carsten and Hufendiek, Katerina (2023) Investigation of OCTA and SD-OCT Biomarkers in chronic Leber hereditary optic neuropathy (LHON) under Idebenone-Therapy. In: Annual Meeting of the Association for Research in Vision and Ophthalmology (ARVO), April 23-27, 2023, New Orleans, LA.

Hufendiek, Karsten and Hoffmann, Laura and Hohberger, Bettina and Mardin, Christian and Hosari, Sami and Wiezorrek, Mareile and Jacobsen, Christina and Stoehr, Heidi and Neuhann, Teresa and Framme, Carsten and Hufendiek, Katerina (2023) Longitudinal Analysis of Progression Biomarkers in Autosomal Dominant Optic Atrophy (ADOA) using SD-OCT and OCTA. In: Annual Meeting of the Association for Research in Vision and Ophthalmology (ARVO), April 23-27, 2023, New Orleans, LA.

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Kellner, Simone and Stoehr, Heidi and Kiel, Christina and Weinitz, Silke and Farmand, Ghazaleh and Weber, Bernhard and Kellner, Ulrich (2023) Near-infrared autofluorescence in inherited retinal dystrophies. In: Annual Meeting of the Association for Research in Vision and Ophthalmology (ARVO), April 23-27, 2023, New Orleans, LA.

Kellner, Ulrich and Stoehr, Heidi and Kiel, Christina and Kellner, Simone and Weinitz, Silke and Farmand, Ghazaleh and Weber, Bernhard (2023) Wide-field optical coherence tomography in retinitis pigmentosa. In: Annual Meeting of the Association for Research in Vision and Ophthalmology (ARVO), April 23-27, 2023, New Orleans, LA.

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Nuzhat, Nafisa and Van Schil, Kristof and Liakopoulos, Sandra and Bauwens, Miriam and Rey, Alfredo Duenas and Kaeseberg, Stephan and Jaeger, Melanie and Willer, Jason R. and Winter, Jennifer and Truong, Hanh M. and Gruartmoner, Nuria and Van Heetvelde, Mattias and Wolf, Joachim and Merget, Robert and Grasshoff-Derr, Sabine and Van Dorpe, Jo and Hoorens, Anne and Stoehr, Heidi and Mansard, Luke and Roux, Anne-Francoise and Langmann, Thomas and Dannhausen, Katharina and Rosenkranz, David and Wissing, Karl M. and Van Lint, Michel and Rossmann, Heidi and Haeuser, Friederike and Nuernberg, Peter and Thiele, Holger and Zechner, Ulrich and Pearring, Jillian N. and De Baere, Elfride and Bolz, Hanno J. (2023) CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis. JOURNAL OF CLINICAL INVESTIGATION, 133 (8): e161156. ISSN 0021-9738, 1558-8238

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Rhiem, Kerstin and Zachariae, Silke and Waha, Anke and Grill, Sabine and Hester, Anna and Golatta, Michael and van Mackelenbergh, Marion and Fehm, Tanja and Schlaiss, Tanja and Ripperger, Tim and Ledig, Susanne and Meisel, Cornelia and Speiser, Dorothee and Veselinovic, Kristina and Schroeder, Christopher and Witzel, Isabell and Gallwas, Julia and Weber, Bernhard H. F. and Solbach, Christine and Aktas, Bariyhe and Hahnen, Eric and Engel, Christoph and Schmutzler, Rita (2023) Prevalence of pathogenic germline variants in women with non-familial unilateral tri-ple-negative breast cancer. BREAST CARE, 18 (2). pp. 106-112. ISSN 1661-3791, 1661-3805