Skip to main content

Publications

Featured publications

  • Dermatological diseases from a genetic perspective.

    Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V

    Authors: Regina C Betz, Ulrike Hüffmeier

  • Recent advances in the genetics of alopecia areata.

    Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V

    Authors: F Buket Basmanav, Regina C Betz

  • Identification of a novel sporadic U2HR pathogenic variant in a patient with Marie Unna hereditary hypotrichosis.

    Pediatric dermatology

    Authors: Tatjana Braun, Maria Wehner, Anne Teichler, Regina C Betz, Peter H Hoeger

  • Ausgewählte Genodermatosen - Stand der Dinge und Zukunftsaussichten.

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

    Authors: Jorge Frank, Cristina Has, Regina C Betz

  • Identification of a Novel Variant in a Danish Family with Hereditary Leukonychia.

    Skinmed

    Authors: Sofie Lieberoth, Sheetal Kumar, Klaus Brusgaard, Lillian B Ousager, Regina C Betz, Anette Bygum

  • Selected genodermatoses - Status quo and future prospects.

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

    Authors: Jorge Frank, Cristina Has, Regina C Betz

  • 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

  • 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