Universität zu Köln

Journal Article

Bergbreiter, Astrid, Jaeger, Teresa, Karle, Antje, Bitzinger, Diane, Ettl, Tobias, Spanier, Gerrit ORCID: 0000-0002-0226-7580, Jaegle, Herbert, Neu, Reiner, Soeder, Yorick, Evert, Matthias, Reichert, Torsten E., Berneburg, Mark, Brochhausen, Christoph, Schreml, Julia, Fliegauf, Manfred, Salzer, Ulrich, Redel, Andreas and Schreml, Stephan (2021). Recurrent necrotizing cellulitis, multi-organ autoimmune disease and humoral immunodeficiency due to a novel NFKB1 frameshift mutation. Eur. J. Med. Genet., 64 (3). AMSTERDAM: ELSEVIER. ISSN 1878-0849

Eisenberger, Tobias, Neuhaus, Christine, Khan, Arif O., Decker, Christian, Preising, Markus N., Friedburg, Christoph, Bieg, Anika, Gliem, Martin, Issa, Peter Charbel ORCID: 0000-0002-0351-6673, Holz, Frank G., Baig, Shahid M., Hellenbroich, Yorck, Galvez, Alberto, Platzer, Konrad ORCID: 0000-0001-6127-6308, Wollnik, Bernd, Laddach, Nadja, Ghaffari, Saeed Reza, Rafati, Maryam, Botzenhart, Elke, Tinschert, Sigrid, Boerger, Doris, Bohring, Axel, Schreml, Julia, Koertge-Jung, Stefani, Schell-Apacik, Chayim, Bakur, Khadijah ORCID: 0000-0002-0668-1762, Al-Aama, Jumana Y., Neuhann, Teresa, Herkenrath, Peter, Nuernberg, Gudrun, Nuernburg, Peter, Davis, John S., Gal, Andreas, Bergmann, Carsten, Lorenz, Birgit and Bolz, Hanno J. (2013). Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies. PLoS One, 8 (11). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Haverkampf, Sonja, Heider, Judith, Weiss, Katharina T., Berneburg, Mark, Karrer, Sigrid, Schreml, Stephan ORCID: 0000-0002-2820-1942, Haubner, Frank, Ettl, Tobias, Schreml, Julia, Hedtrich, Sarah, von Suesskind-Schwendi, Marietta and Dissemond, Joachim (2017). NHE1 expression at wound margins increases time-dependently during physiological healing. Exp. Dermatol., 26 (2). S. 124 - 127. HOBOKEN: WILEY-BLACKWELL. ISSN 1600-0625

Lindner, Angie, Marbach, Felix, Tschernitz, Sebastian, Ortner, Christine, Berneburg, Mark, Felthaus, Oliver, Prantl, Lukas, Kye, Min Jeong ORCID: 0000-0002-1323-7256, Rappl, Gunter, Altmueller, Janine, Thieles, Holger, Schreml, Stephan ORCID: 0000-0002-2820-1942 and Schreml, Julia (2019). Calcyphosine-like (CAPSL) is regulated in Multiple Symmetric Lipomatosis and is involved in Adipogenesis. Sci Rep, 9. LONDON: NATURE PUBLISHING GROUP. ISSN 2045-2322

Mutsaers, Chantal A., Wishart, Thomas M., Lamont, Douglas J., Riessland, Markus ORCID: 0000-0003-2592-5045, Schreml, Julia, Comley, Laura H., Murray, Lyndsay M., Parson, Simon H., Lochmueller, Hanns, Wirth, Brunhilde ORCID: 0000-0003-4051-5191, Talbot, Kevin ORCID: 0000-0001-5490-1697 and Gillingwater, Thomas H. (2011). Reversible molecular pathology of skeletal muscle in spinal muscular atrophy. Hum. Mol. Genet., 20 (22). S. 4334 - 4345. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083

Netzer, Christian, Velmans, Clara, Erger, Florian ORCID: 0000-0002-2768-1702 and Schreml, Julia (2021). Carrier testing for autosomal recessive disorders: a look at current practice in Germany. Med. Genet., 33 (1). S. 13 - 20. BERLIN: WALTER DE GRUYTER GMBH. ISSN 1863-5490

Prantl, Lukas, Schreml, Julia, Gehmert, Sebastian ORCID: 0000-0002-4794-0660, Klein, Silvan, Bai, Xiaowen, Zeitler, Katharina, Schreml, Stephan ORCID: 0000-0002-2820-1942, Alt, Eckhard, Gehmert, Sanga and Felthaus, Oliver (2016). Transcription Profile in Sporadic Multiple Symmetric Lipomatosis Reveals Differential Expression at the Level of Adipose Tissue-Derived Stem Cells. Plast. Reconstr. Surg., 137 (4). S. 1181 - 1191. PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS. ISSN 1529-4242

Sander, Dorothea, Schroeder, Josef, Schoenbuchner, Ines, Schreml, Julia, Karrer, Sigrid, Berneburg, Mark and Schreml, Stephan ORCID: 0000-0002-2820-1942 (2016). Erythrodermia Congenitalis Ichthyosiformis Bullosa of Brocq. Case Rep. Dermatol., 8 (1). S. 19 - 22. BASEL: KARGER. ISSN 1662-6567

Schiltz, Daniel ORCID: 0000-0003-1096-9336, Anker, Alexandra, Ortner, Christine, Tschernitz, Sebastian, Koller, Michael, Klein, Silvan, Felthaus, Oliver, Schreml, Julia, Schreml, Stephan ORCID: 0000-0002-2820-1942 and Prantl, Lukas (2018). Multiple Symmetric Lipomatosis: New Classification System Based on the Largest German Patient Cohort. PRS-GLOB. OPEN, 6 (4). PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS. ISSN 2169-7574

Schiltz, Daniel ORCID: 0000-0003-1096-9336, Mueller, Karolina, Ortner, Christine, Tschernitz, Sebastian, Anker, Alexandra, Felthaus, Oliver, Schreml, Julia, Koller, Michael, Prantl, Lukas ORCID: 0000-0003-2454-2499 and Schreml, Stephan ORCID: 0000-0002-2820-1942 (2021). Multiple Symmetric Lipomatosis: A Cross-Sectional Study to Investigate Clinical Features and Patients' Quality of Life. Symmetry-Basel, 13 (10). BASEL: MDPI. ISSN 2073-8994

Schiltz, Daniel ORCID: 0000-0003-1096-9336, Tschernitz, Sebastian, Ortner, Christine, Anker, Alexandra, Klein, Silvan, Felthaus, Oliver, Biermann, Niklas, Schreml, Julia, Prantl, Lukas and Schreml, Stephan (2020). Adipose Tissue in Multiple Symmetric Lipomatosis Shows Features of Brown/Beige Fat. Aesthet. Plast. Surg., 44 (3). S. 855 - 862. NEW YORK: SPRINGER. ISSN 1432-5241

Schreml, Julia, Durmaz, Burak, Cogulu, Ozgur, Keupp, Katharina, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Pohl, Esther, Milz, Esther, Coker, Mahmut, Ucar, Sema Kalkan ORCID: 0000-0001-9574-7841, Nuernberg, Gudrun, Nuernberg, Peter, Kuhn, Joachim and Ozkinay, Ferda (2014). The missing link: an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation. Hum. Genet., 133 (1). S. 29 - 40. NEW YORK: SPRINGER. ISSN 1432-1203

Schreml, Julia and Gouni-Berthold, Ioanna (2017). Apolipoprotein(a) Antisense Oligonucleotides: A New Treatment Option for Lowering Elevated Lipoprotein(a)? Curr. Pharm. Design, 23 (10). S. 1562 - 1571. SHARJAH: BENTHAM SCIENCE PUBL LTD. ISSN 1873-4286

Schreml, Julia and Gouni-Berthold, Ioanna (2018). Role of Anti-PCSK9 Antibodies in the Treatment of Patients with Statin Intolerance. Curr. Med. Chem., 25 (13). S. 1538 - 1549. SHARJAH: BENTHAM SCIENCE PUBL LTD. ISSN 1875-533X

Weiss, Katharina T., Fante, Matthias, Koehl, Gudrun, Schreml, Julia, Haubner, Frank, Kreutz, Marina, Haverkampf, Sonja, Berneburg, Mark and Schreml, Stephan ORCID: 0000-0002-2820-1942 (2017). Proton-sensing G protein-coupled receptors as regulators of cell proliferation and migration during tumor growth and wound healing. Exp. Dermatol., 26 (2). S. 127 - 133. HOBOKEN: WILEY. ISSN 1600-0625