The First Report of KRT5 Mutation Underlying Acantholytic Dowling-Degos Disease with Mottled Hypopigmentation in an Indian Family

por Verma, Shyam, Pasternack, Sandra M., Rütten, Arno, Ruzicka, Thomas, Betz, Regina C., Hanneken, Sandra
Publicado 2014

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

por Habib, Rabia, Ansar, Muhammad, Mattheisen, Manuel, Shahid, Muhammad, Ali, Ghazanfar, Ahmad, Wasim, Betz, Regina C.
Publicado 2015

Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature

por Begemann, Matthias, Spengler, Sabrina, Gogiel, Magdalena, Grasshoff, Ute, Bonin, Michael, Betz, Regina C, Dufke, Andreas, Spier, Isabel, Eggermann, Thomas
Publicado 2012

The FU gene and its possible protein isoforms

por Østerlund, Torben, Everman, David B, Betz, Regina C, Mosca, Monica, Nöthen, Markus M, Schwartz, Charles E, Zaphiropoulos, Peter G, Toftgård, Rune
Publicado 2004

Evidence for a functional interaction of WNT10A and EBF1 in male-pattern baldness

por Hochfeld, Lara M., Bertolini, Marta, Broadley, David, Botchkareva, Natalia V., Betz, Regina C., Schoch, Susanne, Nöthen, Markus M., Heilmann-Heimbach, Stefanie
Publicado 2021

The brain in myotonic dystrophy 1 and 2: evidence for a predominant white matter disease

por Minnerop, Martina, Weber, Bernd, Schoene-Bake, Jan-Christoph, Roeske, Sandra, Mirbach, Sandra, Anspach, Christian, Schneider-Gold, Christiane, Betz, Regina C., Helmstaedter, Christoph, Tittgemeyer, Marc, Klockgether, Thomas, Kornblum, Cornelia
Publicado 2011

Whole-exome sequencing in eccrine porocarcinoma indicates promising therapeutic strategies

por Denisova, Evgeniya, Westphal, Dana, Surowy, Harald M., Meier, Friedegund, Hutter, Barbara, Reifenberger, Julia, Rütten, Arno, Schulz, Alexander, Sergon, Mildred, Ziemer, Mirjana, Brors, Benedikt, Betz, Regina C., Redler, Silke
Publicado 2021

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

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

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

por UDDIN, Syed Ashraf, CESARATO, Nicole, HUMBATOVA, Aytaj, SCHMIDT, Axel, REHMAN, Fazal UR, NAEEM, Muhammad, WOLF, Sabrina, TAREEN, Abdul Samad, PANEZAI, Muhammad Anwar, THIELE, Holger, WALI, Abdul, FÖLSTER-HOLST, Regina, BASIT, Sulman, AYUB, Muhammad, BETZ, Regina C.
Publicado 2020

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

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

Mutational Spectrum of the ABCA12 Gene and Genotype–Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis

por Hotz, Alrun, Kopp, Julia, Bourrat, Emmanuelle, Oji, Vinzenz, Süßmuth, Kira, Komlosi, Katalin, Bouadjar, Bakar, Tantcheva-Poór, Iliana, Hellström Pigg, Maritta, Betz, Regina C., Giehl, Kathrin, Schedel, Fiona, Weibel, Lisa, Schulz, Solveig, Stölzl, Dora V., Tadini, Gianluca, Demiral, Emine, Berggard, Karin, Zimmer, Andreas D., Alter, Svenja, Fischer, Judith
Publicado 2023

Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients

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

Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci

por Betz, Regina C., Petukhova, Lynn, Ripke, Stephan, Huang, Hailiang, Menelaou, Androniki, Redler, Silke, Becker, Tim, Heilmann, Stefanie, Yamany, Tarek, Duvic, Madeliene, Hordinsky, Maria, Norris, David, Price, Vera H., Mackay-Wiggan, Julian, de Jong, Annemieke, DeStefano, Gina M., Moebus, Susanne, Böhm, Markus, Blume-Peytavi, Ulrike, Wolff, Hans, Lutz, Gerhard, Kruse, Roland, Bian, Li, Amos, Christopher I., Lee, Annette, Gregersen, Peter K., Blaumeiser, Bettina, Altshuler, David, Clynes, Raphael, de Bakker, Paul I. W., Nöthen, Markus M., Daly, Mark J., Christiano, Angela M.
Publicado 2015