Items where Division is "Medicine > Lehrstuhl für Humangenetik" and Year is 2021

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Borde, Julika and Ernst, Corinna and Wappenschmidt, Barbara and Niederacher, Dieter and Weber-Lassalle, Konstantin and Schmidt, Gunnar and Hauke, Jan and Quante, Anne S. and Weber-Lassalle, Nana and Horvath, Judit and Pohl-Rescigno, Esther and Arnold, Norbert and Rump, Andreas and Gehrig, Andrea and Hentschel, Julia and Faust, Ulrike and Dutrannoy, Veronique and Meindl, Alfons and Kuzyakova, Maria and Wang-Gohrke, Shan and Weber, Bernhard H. F. and Sutter, Christian and Volk, Alexander E. and Giannakopoulou, Olga and Lee, Andrew and Engel, Christoph and Schmidt, Marjanka K. and Antoniou, Antonis C. and Schmutzler, Rita K. and Kuchenbaecker, Karoline and Hahnen, Eric (2021) Performance of Breast Cancer Polygenic Risk Scores in 760 Female CHEK2 Germline Mutation Carriers. JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE, 113 (7): djaa203. pp. 893-899. ISSN 0027-8874, 1460-2105

Brock, Stefanie and Vanderhasselt, Tim and Vermaning, Sietske and Keymolen, Kathelijn and Regal, Luc and Romaniello, Romina and Wieczorek, Dagmar and Storm, Tim Matthias and Schaeferhoff, Karin and Hehr, Ute and Kuechler, Alma and Kraegeloh-Mann, Ingeborg and Haack, Tobias B. and Kasteleijn, Esmee and Schot, Rachel and Mancini, Grazia Maria Simonetta and Webster, Richard and Mohammad, Shekeeb and Leventer, Richard J. and Mirzaa, Ghayda and Dobyns, William B. and Bahi-Buisson, Nadia and Meuwissen, Marije and Jansen, Anna C. and Stouffs, Katrien (2021) Defining the phenotypical spectrum associated with variants in TUBB2A. JOURNAL OF MEDICAL GENETICS, 58 (1). pp. 33-40. ISSN 0022-2593, 1468-6244

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Huchzermeyer, Cord and Fars, Julien and Stoehr, Heidi and Kremers, Jan (2021) New techniques for quantification of color vision in disorders of cone function Cambridge color test and photoreceptor-specific temporal contrast sensitivity in patients with heterozygousRP1L1andRPGRmutations. OPHTHALMOLOGE, 118. pp. 144-153. ISSN 0941-293X, 1433-0423

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Khuller, Katharina and Yigit, Goekhan and Grijalva, Carolina Martinez and Altmueller, Janine and Thiele, Holger and Nurnberg, Peter and Elcioglu, Nursel H. and Yeter, Burcu and Hehr, Ute and Stein, Anja and Della Marina, Adela and Koeninger, Angela and Depienne, Christel and Kaiser, Frank J. and Wollnik, Bernd and Kuechler, Alma (2021) MFSD2A-associated primary microcephaly-Expanding the clinical and mutational spectrum of this ultra-rare disease. EUROPEAN JOURNAL OF MEDICAL GENETICS, 64 (10): 104310. ISSN 1769-7212, 1878-0849

Kiel, Christina and Nebauer, Christoph A. and Strunz, Tobias and Stelzl, Simon and Weber, Bernhard H. F. (2021) Epistatic interactions of genetic loci associated with age-related macular degeneration. SCIENTIFIC REPORTS, 11 (1): 13114. ISSN 2045-2322

Kiel, Christina and Strunz, Tobias and Hasler, Daniele and Meister, Gunter and Grassmann, Felix and Weber, Bernhard (2021) Allele-specific influence of seed polymorphism rs2168518 in hsa-miR-4513 on expression of neovascularization-associated genes. In: ARVO Annual Meeting 2021, Virtual meeting.

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Lubnow, Matthias and Schmidt, Barbara and Fleck, Martin and Salzberger, Bernd and Mueller, Thomas and Peschel, Georg and Schneckenpointner, Roland and Lange, Tobias and Hitzenbichler, Florian and Kieninger, Martin and Lunz, Dirk and Graf, Bernhard and Brochhausen, Christoph and Weber, Florian and Lueke, Florian and Peterhoff, David and Schuster, Philipp and Hiergeist, Andreas and Offner, Robert and Hehr, Ute and Wallner, Stefan and Hanses, Frank and Schmid, Stephan and Weigand, Kilian and Geismann, Florian and Poeck, Hendrik and Pukrop, Tobias and Evert, Matthias and Gessner, Andre and Burkhardt, Ralph and Herr, Wolfgang and Maier, Lars S. and Heudobler, Daniel (2021) Secondary hemophagocytic lymphohistiocytosis and severe liver injury induced by hepatic SARS-CoV-2 infection unmasking Wilson's disease: Balancing immunosuppression. INTERNATIONAL JOURNAL OF INFECTIOUS DISEASES, 103. pp. 624-627. ISSN 1201-9712, 1878-3511

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Ploessl, Karolina and Milenkovic, Andrea and Weber, Bernhard H. F. (2021) Challenges and opportunities for modeling monogenic and complex disorders of the human retina via induced pluripotent stem cell technology. MEDIZINISCHE GENETIK, 33 (3). pp. 221-227. ISSN 0936-5931, 1863-5490

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Schmid, Verena and Bruckmann, Astrid and Weber, Bernhard H. F. and Friedrich, Ulrike (2021) Effect of retinoschisin on compartmentalization on novel interaction partners of the retinal Na/K-ATPase-retinoschisin complex. In: ARVO Annual Meeting 2021, Virtual meeting.

Strunz, Tobias and Kellner, Martin and Kiel, Christina and Weber, Bernhard H. F. (2021) Assigning Co-Regulated Human Genes and Regulatory Gene Clusters. CELLS, 10 (9): 2395. ISSN , 2073-4409

Strunz, Tobias and Kiel, Christina and Nebauer, Christoph A. and Stelzl, Simon and Weber, Bernhard H. F. (2021) Gene expression in liver is influenced by coordinated activities at genetic loci associated with age-related macular degeneration. In: ARVO Annual Meeting 2021, Virtual meeting.

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Todorow, Vanessa and Hintze, Stefan and Kerr, Alastair R. W. and Hehr, Andreas and Schoser, Benedikt and Meinke, Peter (2021) Transcriptome Analysis in a Primary Human Muscle Cell Differentiation Model for Myotonic Dystrophy Type 1. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 22 (16): 8607. ISSN , 1422-0067