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Publications

featured publications

  • Short anagen hair syndrome: Association with mono- and biallelic variants in WNT10A and a genetic overlap with male pattern hair loss.

    The British journal of dermatology

    Authors: Nicole Cesarato, Agnes Schwieger-Briel, Yasmina Gossmann, Sabrina K Henne, Kathrin Hillmann, Leonie H Frommherz, Maria Wehner, Xing Xiong, Holger Thiele, Vinzenz Oji, Donatella Milani, Iliana Tantcheva-Poor, Kathrin Giehl, Regina Fölster-Holst, Anne Teichler, Delphine Braeckmans, Peter H Hoeger, Gabriela Jones, Jorge Frank, Lisa Weibel, Ulrike Blume-Peytavi, Henning Hamm, Markus M Nöthen, Matthias Geyer, Stefanie Heilmann-Heimbach, F Buket Basmanav, Regina C Betz

  • Altered Notch signalling in Dowling-Degos disease: A transcriptomic insight into disease pathogenesis.

    The British journal of dermatology

    Authors: Sheetal Kumar, Jonas Hausen, Sugirthan Sivalingam, Aytaj Humbatova, Andreas Buness, Jorge Frank, Damian J Ralser, Regina C Betz

  • Founder variants in KRT5 and POGLUT1 are implicated in Dowling-Degos disease.

    The Journal of investigative dermatology

    Authors: Sheetal Kumar, Oleg Borisov, Carlo Maj, Damian J Ralser, Aytaj Humbatova, Sandra Hanneken, Astrid Schmieder, Janina Groß, Laura Maintz, Andre Heineke, Jana Knuever, Christina Fagerberg, Laurent Parmentier, Waltraud Anemüller, Vinzenz Oji, Iliana Tantcheva-Poór, Regina Fölster-Holst, Joerg Wenzel, Peter M Krawitz, Jorge Frank, Regina C Betz

  • [POGLUT1-Varianten bei Morbus Dowling-Degos - Assoziation mit spezifischen klinischen und histopathologischen Merkmalen?].

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

    Authors: Sheetal Kumar, Jörg Wenzel, Michael P Schön, Regina C Betz, Jorge Frank

  • 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