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, 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

Basmanav, F. Buket, Oprisoreanu, Ana-Maria ORCID: 0000-0002-9409-0830, Pasternack, Sandra M., Thiele, Holger, Fritz, Guenter ORCID: 0000-0002-4571-8812, Wenzel, Joerg, Groesser, Leopold, Wehner, Maria, Wolf, Sabrina, Fagerberg, Christina, Bygum, Anette ORCID: 0000-0002-3004-0180, Altmueller, Janine, Ruetten, Arno, Parmentier, Laurent, El Shabrawi-Caelen, Laila, Hafner, Christian, Nuernberg, Peter, Kruse, Roland, Schoch, Susanne, Hanneken, Sandra and Betz, Regina C. (2014). Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease. Am. J. Hum. Genet., 94 (1). S. 135 - 144. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

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

Cesarato, Nicole, Wehner, Maria, Ghughunishvili, Mariam, Schmidt, Axel, Axt, Daisy, Thiele, Holger, Lentze, Michael J., Has, Cristina ORCID: 0000-0001-6066-507X, Geyer, Matthias ORCID: 0000-0002-7718-5002, Basmanav, Fitnat Buket and Betz, Regina C. (2021). Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes. Am. J. Med. Genet. A, 185 (12). S. 3900 - 3905. HOBOKEN: WILEY. ISSN 1552-4833

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

Guenschmann, Christian, Chiticariu, Elena, Garg, Bhavuk, Hiz, Merve Meliha, Mostmans, Yora, Wehner, Maria and Scharfenberger, Lukas (2014). Transgenic Mouse Technology in Skin Biology: Inducible Gene Knockout in Mice. J. Invest. Dermatol., 134 (7). NEW YORK: NATURE PUBLISHING GROUP. ISSN 1523-1747

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