Universität zu Köln

Journal Article

Basmanav, F. Buket, Fritz, Guenter ORCID: 0000-0002-4571-8812, Lestringant, Gilles G., Pachat, Divya, Hoffjan, Sabine, Fischer, Johannes ORCID: 0000-0002-2079-1845, Wehner, Maria, Wolf, Sabrina, Thiele, Holger, Altmueller, Janine, Pulimood, Susanne A., Ruetten, Arno, Kruse, Roland, Hanneken, Sandra, Frank, Jorge, Danda, Sumita, Bygum, Anette ORCID: 0000-0002-3004-0180 and Betz, Regina C. (2015). Pathogenicity of POFUT1 in Dowling-Degos Disease: Additional Mutations and Clinical Overlap with Reticulate Acropigmentation of Kitamura. J. Invest. Dermatol., 135 (2). S. 615 - 619. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1523-1747

Gollasch, Benjamin, Basmanav, Fitnat Buket, Nanda, Arti ORCID: 0000-0002-1223-3181, Fritz, Guenter ORCID: 0000-0002-4571-8812, Mahmoudi, Hassnaa, Thiele, Holger, Wehner, Maria, Wolf, Sabrina, Altmueller, Janine, Nuernberg, Peter, Frank, Jorge and Betz, Regina C. (2015). Identification of a novel mutation in RIPK4 in a kindred with phenotypic features of Bartsocas-Papas and CHAND syndromes. Am. J. Med. Genet. A, 167 (11). S. 2555 - 2563. HOBOKEN: WILEY. ISSN 1552-4833

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

Lang, Berenice M., Balermpas, Panagiotis ORCID: 0000-0001-5261-6446, Bauer, Andrea, Blum, Andreas, Broelsch, G. Felix, Dirschka, Thomas, Follmann, Markus ORCID: 0000-0003-3790-5578, Frank, Jorge, Frerich, Bernhard, Fritz, Klaus, Hauschild, Axel, Heindl, Ludwig M., Howaldt, Hans-Peter, Ihrler, Stephan, Kakkassery, Vinodh, Klumpp, Bernhard, Krause-Bergmann, Albrecht, Loeser, Christoph, Meissner, Markus, Sachse, Michael M., Schlaak, Max, Schoen, Michael P., Tischendorf, Lutz, Tronnier, Michael, Vordermark, Dirk, Welzel, Julia ORCID: 0000-0002-6099-7418, Weichenthal, Michael, Wiegand, Susanne, Kaufmann, Roland and Grabbe, Stephan (2019). S2k Guidelines for Cutaneous Basal Cell Carcinoma - Part 1: Epidemiology, Genetics and Diagnosis. J. Dtsch. Dermatol. Ges., 17 (1). S. 94 - 105. HOBOKEN: WILEY. ISSN 1610-0387

Lang, Berenice M., Balermpas, Panagiotis ORCID: 0000-0001-5261-6446, Bauer, Andrea, Blum, Andreas, Broelsch, G. Felix, Dirschka, Thomas, Follmann, Markus ORCID: 0000-0003-3790-5578, Frank, Jorge, Frerich, Bernhard, Fritz, Klaus, Hauschild, Axel, Heindl, Ludwig M., Howaldt, Hans-Peter, Ihrler, Stephan, Kakkassery, Vinodh, Klumpp, Bernhard, Krause-Bergmann, Albrecht, Loeser, Christoph, Meissner, Markus, Sachse, Michael M., Schlaak, Max, Schoen, Michael P., Tischendorf, Lutz, Tronnier, Michael, Vordermark, Dirk, Welzel, Julia ORCID: 0000-0002-6099-7418, Weichenthal, Michael, Wiegand, Susanne, Kaufmann, Roland and Grabbe, Stephan (2019). S2k Guidelines for Cutaneous Basal Cell Carcinoma - Part 2: Treatment, Prevention and Follow-up. J. Dtsch. Dermatol. Ges., 17 (2). S. 214 - 232. HOBOKEN: WILEY. ISSN 1610-0387

Ralser, Damian J., Basmanav, F. Buket Ue., Tafazzoli, Aylar, Wititsuwannakul, Jade, Delker, Sarah, Danda, Sumita, Thiele, Holger, Wolf, Sabrina, Busch, Michelle, Pulimood, Susanne A., Altmueller, Janine, Nuernberg, Peter, Lacombe, Didier ORCID: 0000-0002-8956-2207, Hillen, Uwe, Wenzel, Joerg, Frank, Jorge, Odermatt, Benjamin and Betz, Regina C. (2017). Mutations in gamma-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa. J. Clin. Invest., 127 (4). S. 1485 - 1491. ANN ARBOR: AMER SOC CLINICAL INVESTIGATION INC. ISSN 1558-8238

Romano, Maria-Teresa, Tafazzoli, Aylar, Mattern, Maximilian, Sivalingam, Sugirthan, Wolf, Sabrina, Rupp, Alexander ORCID: 0000-0002-2131-4581, Thiele, Holger, Altmueller, Janine, Nuernberg, Peter, Ellwanger, Juergen, Gambon, Reto, Baumer, Alessandra, Kohlschmidt, Nicolai, Metze, Dieter, Holdenrieder, Stefan, Paus, Ralf, Luetjohann, Dieter, Frank, Jorge, Geyer, Matthias ORCID: 0000-0002-7718-5002, Bertolini, Marta ORCID: 0000-0002-5927-6998, Kokordelis, Pavlos and Betz, Regina C. (2018). Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex. Am. J. Hum. Genet., 103 (5). S. 777 - 786. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Schmetz, Ariane ORCID: 0000-0001-8220-7854, Xiong, Xing ORCID: 0000-0001-5728-150X, Cesarato, Nicole, Basmanav, Fitnat Buket, Gierthmuehlen, Petra, Schaper, Joerg, Schlieper, Daniel, Wehner, Maria, Thiele, Holger, Frank, Jorge, Betz, Regina C. and Redler, Silke (2022). Phenotype diversity associated with TP63 mutations. J. Dtsch. Dermatol. Ges., 20 (6). S. 872 - 876. HOBOKEN: WILEY. ISSN 1610-0387