Universität zu Köln

Journal Article

Basmanav, F. Buket, Cesarato, Nicole, Kumar, Sheetal ORCID: 0000-0002-5240-079X, Borisov, Oleg, Kokordelis, Pavlos, Ralser, Damian J., Wehner, Maria, Axt, Daisy, Xiong, Xing ORCID: 0000-0001-5728-150X, Thiele, Holger, Dolgin, Vadim, Gossmann, Yasmina, Fricker, Nadine, Dewenter, Malin Katharina, Weller, Karsten, Suri, Mohnish ORCID: 0000-0001-9037-701X, Reichenbach, Herbert, Oji, Vinzenz, Addor, Marie-Claude, Ramirez, Karla, Stewart, Helen, Bartels, Natalie Garcia, Weibel, Lisa, Wagner, Nicola, George, Susannah, Kilic, Arzu, Tantcheva-Poor, Iliana, Stewart, Alison, Dikow, Nicola, Blaumeiser, Bettina ORCID: 0000-0001-9993-7319, Medvecz, Marta, Blume-Peytavi, Ulrike, Farrant, Paul, Grimalt, Ramon, Bertok, Sara, Bradley, Lisa, Eskin-Schwartz, Marina, Birk, Ohad Samuel, Bygum, Anette ORCID: 0000-0002-3004-0180, Simon, Michel ORCID: 0000-0003-3655-6329, Krawitz, Peter, Fischer, Christine, Hamm, Henning, Fritz, Gunter and Betz, Regina C. (2022). Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals. JAMA Dermatol., 158 (11). S. 1245 - 1254. CHICAGO: AMER MEDICAL ASSOC. ISSN 2168-6084

Basmanav, F. Buket U., Cau, Laura ORCID: 0000-0002-2480-536X, Tafazzoli, Aylar, Mechin, Marie-Claire, Wolf, Sabrina, Romano, Maria Teresa, Valentin, Frederic, Wiegmann, Henning, Huchenq, Anne, Kandil, Rima, Bartels, Natalie Garcia, Kilic, Arzu, George, Susannah, Ralser, Damian J., Bergner, Stefan, Ferguson, David J. P., Oprisoreanu, Ana-Maria ORCID: 0000-0002-9409-0830, Wehner, Maria, Thiele, Holger, Altmueller, Janine, Nuerenberg, Peter, Swan, Daniel ORCID: 0000-0001-8978-8129, Houniet, Darren, Buechner, Aline, Weibel, Lisa, Wagner, Nicola, Grimalt, Ramon, Bygum, Anette ORCID: 0000-0002-3004-0180, Serre, Guy, Blume-Peytavi, Ulrike, Sprecher, Eli, Schoch, Susanne, Oji, Vinzenz ORCID: 0000-0003-1380-4828, Hamm, Henning, Farrant, Paul, Simon, Michel ORCID: 0000-0003-3655-6329 and Betz, Regina C. (2016). Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome. Am. J. Hum. Genet., 99 (6). S. 1292 - 1305. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Blaydon, Diana C., Nitoiu, Daniela, Eckl, Katja-Martina, Cabral, Rita M., Bland, Philip, Hausser, Ingrid, van Heel, David A., Rajpopat, Shefali, Fischer, Judith ORCID: 0000-0002-8580-8118, Oji, Vinzenz ORCID: 0000-0003-1380-4828, Zvulunov, Alex, Traupe, Heiko, Hennies, Hans Christian and Kelsell, David P. (2011). Mutations in CSTA, Encoding Cystatin A, Underlie Exfoliative Ichthyosis and Reveal a Role for This Protease Inhibitor in Cell-Cell Adhesion. Am. J. Hum. Genet., 89 (4). S. 564 - 572. CAMBRIDGE: CELL PRESS. ISSN 0002-9297

Busch, Jutta, Frank, Valeska, Bachmann, Nadine, Otsuka, Atoshi, Oji, Vinzenz ORCID: 0000-0003-1380-4828, Metze, Dieter, Shah, Krati, Danda, Sumita, Watzer, Bernhard, Traupe, Heiko, Bolz, Hanno J., Kabashima, Kenji ORCID: 0000-0002-0773-0554 and Bergmann, Carsten (2012). Mutations in the Prostaglandin Transporter SLCO2A1 Cause Primary Hypertrophic Osteoarthropathy with Digital Clubbing. J. Invest. Dermatol., 132 (10). S. 2473 - 2477. NEW YORK: NATURE PUBLISHING GROUP. ISSN 0022-202X

Has, Cristina ORCID: 0000-0001-6066-507X, Hess, Moritz, Anemueller, Waltraud, Blume-Peytavi, Ulrike, Emmert, Steffen, Foelster-Holst, Regina, Frank, Jorge, Giehl, Kathrin, Guenther, Claudia, Hammersen, Johanna ORCID: 0000-0001-8821-5775, Hillmann, Kathrin, Hoeflein, Bettina, Hoeger, Peter H., Hotz, Alrun, Oji, Vinzenz, Schneider, Holm, Suessmuth, Kira, Tantcheva-Poor, Iliana, Thielking, Frederieke, Zirn, Birgit, Fischer, Judith and Reimer-Taschenbrecker, Antonia . Epidemiology of inherited epidermolysis bullosa in Germany. J. Eur. Acad. Dermatol. Venereol.. HOBOKEN: WILEY. ISSN 1468-3083

Hotz, Alrun ORCID: 0000-0003-2560-3951, Kopp, Julia, Bourrat, Emmanuelle, Oji, Vinzenz, Komlosi, Katalin, Giehl, Kathrin, Bouadjar, Bakar, Bygum, Anette ORCID: 0000-0002-3004-0180, Tantcheva-Poor, Iliana, Hellstrom Pigg, Maritta, Has, Cristina ORCID: 0000-0001-6066-507X, Yang, Zhou, Irvine, Alan D., Betz, Regina C., Zambruno, Giovanna, Tadini, Gianluca, Suessmuth, Kira, Gruber, Robert, Schmuth, Matthias, Mazereeuw-Hautier, Juliette, Jonca, Natalie, Guez, Sophie, Brena, Michela, Hernandez-Martin, Angela, van den Akker, Peter ORCID: 0000-0002-3734-753X, Bolling, Maria C., Hannula-Jouppi, Katariina, Zimmer, Andreas D., Alter, Svenja, Vahlquist, Anders and Fischer, Judith ORCID: 0000-0002-8580-8118 (2021). Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients. Genes, 12 (1). BASEL: MDPI. ISSN 2073-4425

Jansen, Patrick A. M., van den Bogaard, Ellen H. ORCID: 0000-0003-4846-0287, Kersten, Ferry F. J., Oostendorp, Corien ORCID: 0000-0003-3992-4262, van Vlijmen-Willems, Ivonne M. J. J., Oji, Vinzenz ORCID: 0000-0003-1380-4828, Traupe, Heiko, Hennies, Hans C., Schalkwijk, Joost ORCID: 0000-0002-1308-1319 and Zeeuwen, Patrick L. J. M. (2012). Cystatin M/E knockdown by lentiviral delivery of shRNA impairs epidermal morphogenesis of human skin equivalents. Exp. Dermatol., 21 (11). S. 889 - 892. HOBOKEN: WILEY-BLACKWELL. ISSN 0906-6705

Kim, Mi-Ran, Oji, Vinzenz, Valentin, Frederic, Traupe, Heiko, Nofer, Jerzy-Roch, Hausser, Ingrid, Hennies, Hans Christian, Eckl, Katja, Wudy, Stefan A., Sanchez-Guijo, Alberto, Kerschke, Laura, Fischer, Judith and Suessmuth, Kira (2021). Vitamin D Status in Distinct Types of Ichthyosis: Importance of Genetic Type and Severity of Scaling. Acta Derm.-Venereol., 101. UPPSALA: ACTA DERMATO-VENEREOLOGICA. ISSN 1651-2057

Oji, Vinzenz, Preil, Marie-Luise, Kleinow, Barbara, Wehr, Geske, Fischer, Judith ORCID: 0000-0002-8580-8118, Hennies, Hans Christian, Hausser, Ingrid, Breitkreutz, Dirk, Aufenvenne, Karin, Stieler, Karola, Tantcheva-Poor, Illiana, Weidinger, Stefan, Emmert, Steffen, Hamm, Henning, Perusquia-Ortiz, Ana Maria, Zaraeva, Irina, Diem, Anja, Giehl, Kathrin, Foelster-Holst, Regina, Kiekbusch, Kirstin, Hoeger, Peter, Ott, Hagen and Traupe, Heiko (2017). S1 guidelines for the diagnosis and treatment of ichthyoses - update. J. Dtsch. Dermatol. Ges., 15 (10). S. 1053 - 1066. HOBOKEN: WILEY. ISSN 1610-0387

Oji, Vinzenz ORCID: 0000-0003-1380-4828, Tadini, Gianluca, Akiyama, Masashi, Bardon, Claudine Blanchet, Bodemer, Christine, Bourrat, Emmanuelle, Coudiere, Philippe, DiGiovanna, John J., Elias, Peter, Fischer, Judith ORCID: 0000-0002-8580-8118, Fleckman, Philip, Gina, Michal, Harper, John, Hashimoto, Takashi, Hausser, Ingrid, Hennies, Hans Christian, Hohl, Daniel, Hovnanian, Alain ORCID: 0000-0003-3412-7512, Ishida-Yamamoto, Akemi, Jacyk, Witold K., Leachman, Sancy, Leigh, Irene, Mazereeuw-Hautier, Juliette, Milstone, Leonard, Morice-Picard, Fanny, Paller, Amy S., Richard, Gabriele, Schmuth, Matthias ORCID: 0000-0002-4064-1334, Shimizu, Hiroshi, Sprecher, Eli, Van Steensel, Maurice, Taieb, Alain, Toro, Jorge R., Vabres, Pierre ORCID: 0000-0001-8693-3183, Vahlquist, Anders, Williams, Mary and Traupe, Heiko (2010). Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Soreze 2009. J. Am. Acad. Dermatol., 63 (4). S. 607 - 642. NEW YORK: MOSBY-ELSEVIER. ISSN 0190-9622

Tantcheva-Poor, Iliana, Oji, Vinzenz ORCID: 0000-0003-1380-4828 and Has, Cristina ORCID: 0000-0001-6066-507X (2016). A multistep approach to the diagnosis of rare genodermatoses. J. Dtsch. Dermatol. Ges., 14 (10). S. 969 - 986. HOBOKEN: WILEY-BLACKWELL. ISSN 1610-0387