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  • Proposing GLMN, encoding glomulin, as a novel gene for Dowling-Degos disease.

    The British journal of dermatology

    Authors: Sheetal Kumar, Regina C Betz, Jorge Frank

  • First East Asian case of uncombable hair syndrome.

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

    Authors: Ye Li, Xing Xiong, Nicole Cesarato, Maria Wehner, F Buket Basmanav, Regina C Betz

  • Genexpressionsprofile beim Porokarzinom deuten auf heterogene Tumorentwicklung hin und untermauern Porome als Vorläuferläsionen

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

    Authors: Svenja Holst, Anna K Weber, Friedegund Meier, Jörg Otte, Patrick Petzsch, Julia Reifenberger, Thorsten Wachtmeister, Dana Westphal, Mirjana Ziemer, Wasco Wruck, James Adjaye, Regina C Betz, Arno Rütten, Harald M Surowy, Silke Redler

  • Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

    Nature genetics

    Authors: Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Tzung-Chien Hsieh, Hartmut Engels, Sophia Peters, Alexej Knaus, Shahida Moosa, Luisa Averdunk, Felix Boschann, Henrike Lisa Sczakiel, Sarina Schwartzmann, Martin Atta Mensah, Jean Tori Pantel, Manuel Holtgrewe, Annemarie Bösch, Claudia Weiß, Natalie Weinhold, Aude-Annick Suter, Corinna Stoltenburg, Julia Neugebauer, Tillmann Kallinich, Angela M Kaindl, Susanne Holzhauer, Christoph Bührer, Philip Bufler, Uwe Kornak, Claus-Eric Ott, Markus Schülke, Hoa Huu Phuc Nguyen, Sabine Hoffjan, Corinna Grasemann, Tobias Rothoeft, Folke Brinkmann, Nora Matar, Sugirthan Sivalingam, Claudia Perne, Elisabeth Mangold, Martina Kreiss, Kirsten Cremer, Regina C Betz, Martin Mücke, Lorenz Grigull, Thomas Klockgether, Isabel Spier, André Heimbach, Tim Bender, Fabian Brand, Christiane Stieber, Alexandra Marzena Morawiec, Pantelis Karakostas, Valentin S Schäfer, Sarah Bernsen, Patrick Weydt, Sergio Castro-Gomez, Ahmad Aziz, Marcus Grobe-Einsler, Okka Kimmich, Xenia Kobeleva, Demet Önder, Hellen Lesmann, Sheetal Kumar, Pawel Tacik, Meghna Ahuja Basin, Pietro Incardona, Min Ae Lee-Kirsch, Reinhard Berner, Catharina Schuetz, Julia Körholz, Tanita Kretschmer, Nataliya Di Donato, Evelin Schröck, André Heinen, Ulrike Reuner, Amalia-Mihaela Hanßke, Frank J Kaiser, Eva Manka, Martin Munteanu, Alma Kuechler, Kiewert Cordula, Raphael Hirtz, Elena Schlapakow, Christian Schlein, Jasmin Lisfeld, Christian Kubisch, Theresia Herget, Maja Hempel, Christina Weiler-Normann, Kurt Ullrich, Christoph Schramm, Cornelia Rudolph, Franziska Rillig, Maximilian Groffmann, Ania Muntau, Alexandra Tibelius, Eva M C Schwaibold, Christian P Schaaf, Michal Zawada, Lilian Kaufmann, Katrin Hinderhofer, Pamela M Okun, Urania Kotzaeridou, Georg F Hoffmann, Daniela Choukair, Markus Bettendorf, Malte Spielmann, Annekatrin Ripke, Martje Pauly, Alexander Münchau, Katja Lohmann, Irina Hüning, Britta Hanker, Tobias Bäumer, Rebecca Herzog, Yorck Hellenbroich, Dominik S Westphal, Tim Strom, Reka Kovacs, Korbinian M Riedhammer, Katharina Mayerhanser, Elisabeth Graf, Melanie Brugger, Julia Hoefele, Konrad Oexle, Nazanin Mirza-Schreiber, Riccardo Berutti, Ulrich Schatz, Martin Krenn, Christine Makowski, Heike Weigand, Sebastian Schröder, Meino Rohlfs, Katharina Vill, Fabian Hauck, Ingo Borggraefe, Wolfgang Müller-Felber, Ingo Kurth, Miriam Elbracht, Cordula Knopp, Matthias Begemann, Florian Kraft, Johannes R Lemke, Julia Hentschel, Konrad Platzer, Vincent Strehlow, Rami Abou Jamra, Martin Kehrer, German Demidov, Stefanie Beck-Wödl, Holm Graessner, Marc Sturm, Lena Zeltner, Ludger J Schöls, Janine Magg, Andrea Bevot, Christiane Kehrer, Nadja Kaiser, Ernest Turro, Denise Horn, Annette Grüters-Kieslich, Christoph Klein, Stefan Mundlos, Markus Nöthen, Olaf Riess, Thomas Meitinger, Heiko Krude, Peter M Krawitz, Tobias Haack, Nadja Ehmke, Matias Wagner

  • A nonsense variant in KRT31 is associated with autosomal-dominant monilethrix.

    The British journal of dermatology

    Authors: Xing Xiong, Nicole Cesarato, Yasmina Gossmann, Maria Wehner, Sheetal Kumar, Holger Thiele, Stephanie Demuth, Vinzenz Oji, Matthias Geyer, Henning Hamm, F Buket Basmanav, Regina C Betz

  • Novel pathogenic variants in HR underlie atrichia with papular lesions in a cohort of 10 families.

    The Journal of dermatology

    Authors: Kifayat Ullah, Sohail Ahmed, Nicole Cesarato, Xing Xiong, Maria Taj, Naushaba Manan, Maria Wehner, Muhammad Javed Khan, Hammal Khan, Sabba Mehmood, Muhammad Sharif Hasni, Dariusz Michna, Rehmana Waris, Henning Hamm, Regina C Betz, Wasim Ahmad, Imran Ullah

  • Gene expression profiling in porocarcinoma indicates heterogeneous tumor development and substantiates poromas as precursor lesions.

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

    Authors: Svenja Holst, Anna K Weber, Friedegund Meier, Jörg Otte, Patrick Petzsch, Julia Reifenberger, Thorsten Wachtmeister, Dana Westphal, Mirjana Ziemer, Wasco Wruck, James Adjaye, Regina C Betz, Arno Rütten, Harald M Surowy, Silke Redler

  • Uncombable hair syndrome: Burdensome or captivating?

    Clinical and experimental dermatology

    Authors: Ariane Heyers, F Buket Basmanav, Regina C Betz

  • The Alopecia Areata Severity and Morbidity Index (ASAMI) Study: Results From a Global Expert Consensus Exercise on Determinants of Alopecia Areata Severity.

    JAMA dermatology

    Authors: Anthony Moussa, Michaela Bennett, Dmitri Wall, Nekma Meah, Katherine York, Laita Bokhari, Leila Asfour, Huw Rees, Leonardo Spagnol Abraham, Daniel Asz-Sigall, Fitnat Buket Basmanav, Wilma Bergfeld, Regina C Betz, Bevin Bhoyrul, Ulrike Blume-Peytavi, Valerie Callender, Vijaya Chitreddy, Andrea Combalia, George Cotsarelis, Brittany Craiglow, Rachita Dhurat, Jeff Donovan, Andrei Doroshkevich, Samantha Eisman, Paul Farrant, Juan Ferrando, Aida Gadzhigoroeva, Jack Green, Ramon Grimalt, Matthew Harries, Maria Hordinsky, Alan Irvine, Victoria Jolliffe, Spartak Kaiumov, Brett King, Joyce Lee, Won-Soo Lee, Jane Li, Nino Lortkipanidze, Amy McMichael, Natasha Atanaskova Mesinkovska, Andrew Messenger, Paradi Mirmirani, Elise Olsen, Seth J Orlow, Yuliya Ovcharenko, Bianca Maria Piraccini, Rodrigo Pirmez, Adriana Rakowska, Pascal Reygagne, Lidia Rudnicka, David Saceda Corralo, Maryanne Senna, Jerry Shapiro, Pooja Sharma, Tatiana Siliuk, Michela Starace, Poonkiat Suchonwanit, Anita Takwale, Antonella Tosti, Sergio Vañó-Galván, Willem I Visser, Annika Vogt, Martin Wade, Leona Yip, Cheng Zhou, Rodney Sinclair

  • [Not Available].

    Ugeskrift for laeger

    Authors: Jacob Lollemoen Drivenes, Ileana Vasilescu, Regina C Betz, Anette Bygum