Skip to main content

Publications

featured publications

  • A TMC8 splice variant causes epidermodysplasia verruciformis in a Pakistani family.

    Clinical and experimental dermatology

    Authors: Xing Xiong, Syed Ashraf Uddin, Sobia Munir, Nicole Cesarato, Holger Thiele, Noor Hassan, Surjeet Kumar, Fazal Ur Rehman, Muhammad Naeem, Abdul Wali, Sulman Basit, F Buket Basmanav, Muhammad Ayub, Regina C Betz

  • Mutational Spectrum of the Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis.

    Genes

    Authors: Alrun Hotz, Julia Kopp, Emmanuelle Bourrat, Vinzenz Oji, Kira Süßmuth, Katalin Komlosi, Bakar Bouadjar, Iliana Tantcheva-Poór, Maritta Hellström Pigg, Regina C Betz, Kathrin Giehl, Fiona Schedel, Lisa Weibel, Solveig Schulz, Dora V Stölzl, Gianluca Tadini, Emine Demiral, Karin Berggard, Andreas D Zimmer, Svenja Alter, Judith Fischer

  • Top publication

    Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals.

    JAMA dermatology

    Authors: F Buket Basmanav, Nicole Cesarato, Sheetal Kumar, Oleg Borisov, Pavlos Kokordelis, Damian J Ralser, Maria Wehner, Daisy Axt, Xing Xiong, Holger Thiele, Vadim Dolgin, Yasmina Gossmann, Nadine Fricker, Malin Katharina Dewenter, Karsten Weller, Mohnish Suri, Herbert Reichenbach, Vinzenz Oji, Marie-Claude Addor, Karla Ramirez, Helen Stewart, Natalie Garcia Bartels, Lisa Weibel, Nicola Wagner, Susannah George, Arzu Kilic, Iliana Tantcheva-Poor, Alison Stewart, Nicola Dikow, Bettina Blaumeiser, Márta Medvecz, Ulrike Blume-Peytavi, Paul Farrant, Ramon Grimalt, Sara Bertok, Lisa Bradley, Marina Eskin-Schwartz, Ohad Samuel Birk, Anette Bygum, Michel Simon, Peter Krawitz, Christine Fischer, Henning Hamm, Günter Fritz, Regina C Betz

  • Genetic lessons learned from pathogenic variants in KRT1.

    Journal of the European Academy of Dermatology and Venereology : JEADV

    Authors: Regina C Betz

  • Translational impact of omics studies in alopecia areata: recent advances and future perspectives.

    Expert review of clinical immunology

    Authors: F Buket Basmanav, Regina C Betz

  • [Uncombable hair].

    Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke

    Authors: Jakob Lillemoen Drivenes, Ramon Grimalt, Regina C Betz

  • Phänotypische Vielfalt bei Varianten im TP63-Gen.

    Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG

    Authors: Ariane Schmetz, Xing Xiong, Nicole Cesarato, Fitnat Buket Basmanav, Petra Gierthmuehlen, Jörg Schaper, Daniel Schlieper, Maria Wehner, Holger Thiele, Jorge Frank, Regina C Betz, Silke Redler

  • Phenotype diversity associated with TP63 mutations.

    Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG

    Authors: Ariane Schmetz, Xing Xiong, Nicole Cesarato, Fitnat Buket Basmanav, Petra Gierthmuehlen, Jörg Schaper, Daniel Schlieper, Maria Wehner, Holger Thiele, Jorge Frank, Regina C Betz, Silke Redler

  • A new de novo heterozygous missense mutation in the desmoplakin gene, causing Naxos and Carvajal disease, associating oligodontia and nail fragility.

    Clinical and experimental dermatology

    Authors: Sokounthie Ou, Nicole Cesarato, Pierre Mauran, Marie-Paule Gellé, Holger Thiele, Regina C Betz, Manuelle Viguier, Laurence Gusdorf

  • A girl with unruly locks: molecular genetics makes a diagnosis of uncombable hair syndrome.

    Lancet (London, England)

    Authors: Jakob Lillemoen Drivenes, Regina C Betz, Anette Bygum