The first report of krt5 mutation underlying acantholytic dowling-degos disease with mottled hypopigmentation in an Indian family

by Shyam Verma, Sandra M Pasternack, Arno Rutten, Thomas Ruzicka, Regina C Betz, Sandra Hanneken
Published 2014-01-01

A Novel Locus for Ectodermal Dysplasia of Hair, Nail and Skin Pigmentation Anomalies Maps to Chromosome 18p11.32-p11.31.

by Rabia Habib, Muhammad Ansar, Manuel Mattheisen, Muhammad Shahid, Ghazanfar Ali, Wasim Ahmad, Regina C Betz
Published 2015-01-01

Autosomal-dominant hypotrichosis with woolly hair: Novel gene locus on chromosome 4q35.1-q35.2.

by Annika E Schlaweck, Rachid Tazi-Ahnini, F Buket Ü Basmanav, Javed Mohungoo, Sandra M Pasternack-Ziach, Manuel Mattheisen, Ana-Maria Oprisoreanu, Aytaj Humbatova, Sabrina Wolf, Andrew Messenger, Regina C Betz
Published 2019-01-01

Parent-of-origin Effect in Alopecia Areata: A Large-scale Pedigree Study

by Silke Redler, F. Buket Basmanav, Bettina Blaumeiser, Natalie Garcia Bartels, Gerhard Lutz, Aylar Tafazzoli, Roland Kruse, Hans Wolff, Markus Böhm, Ulrike Blume-Peytavi, Tim Becker, Markus M. Nöthen, Regina C. Betz
Published 2017-05-01

Apparent Missense Variant in COL7A1 Causes a Severe Form of Recessive Dystrophic Epidermolysis Bullosa via Effects on Splicing

by Syed Ashraf Uddin, Nicole Cesarato, Aytaj Humbatova, Axel Schmidt, Fazal urRehman, Muhammad Naeem, Abdul Samad Tareen, Sabrina Wolf, Muhammad Anwar Panezai, Holger Thiele, Abdul Wali, Regina Fölster-Holst, Sulman Basit, Muhammad Ayub, Regina C. Betz
Published 2020-09-01

Tracking the brain in myotonic dystrophies: A 5-year longitudinal follow-up study.

by Carla Gliem, Martina Minnerop, Sandra Roeske, Hanna Gärtner, Jan-Christoph Schoene-Bake, Sandra Adler, Juri-Alexander Witt, Felix Hoffstaedter, Christiane Schneider-Gold, Regina C Betz, Christoph Helmstaedter, Marc Tittgemeyer, Katrin Amunts, Thomas Klockgether, Bernd Weber, Cornelia Kornblum
Published 2019-01-01

Meta-Analysis of Mutations in <i>ALOX12B</i> or <i>ALOXE3</i> Identified in a Large Cohort of 224 Patients

by Alrun Hotz, Julia Kopp, Emmanuelle Bourrat, Vinzenz Oji, Katalin Komlosi, Kathrin Giehl, Bakar Bouadjar, Anette Bygum, Iliana Tantcheva-Poor, Maritta Hellström Pigg, Cristina Has, Zhou Yang, Alan D. Irvine, Regina C. Betz, Giovanna Zambruno, Gianluca Tadini, Kira Süßmuth, Robert Gruber, Matthias Schmuth, Juliette Mazereeuw-Hautier, Natalie Jonca, Sophie Guez, Michela Brena, Angela Hernandez-Martin, Peter van den Akker, Maria C. Bolling, Katariina Hannula-Jouppi, Andreas D. Zimmer, Svenja Alter, Anders Vahlquist, Judith Fischer
Published 2021-01-01