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Anzahl der Publikationen: 9
Zeitschriftenartikel
Hotz, Alrun; Kopp, Julia; Bourrat, Emmanuelle; Oji, Vinzenz; Komlosi, Katalin; Giehl, Kathrin; Bouadjar, Bakar; Bygum, Anette; Tantcheva-Poor, Iliana; Hellstrom Pigg, Maritta; Has, Cristina; Yang, Zhou; Irvine, Alan D.; Betz, Regina C.; Zambruno, Giovanna; Tadini, Gianluca; Suessmuth, Kira; Gruber, Robert; Schmuth, Matthias; Mazereeuw-Hautier, Juliette; Jonca, Natalie; Guez, Sophie; Brena, Michela; Hernandez-Martin, Angela; Akker, Peter van den; Bolling, Maria C.; Hannula-Jouppi, Katariina; Zimmer, Andreas D.; Alter, Svenja; Vahlquist, Anders und Fischer, Judith
(2021):
Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients.
In: Genes, Bd. 12, Nr. 1, 80
Wang, Huijun; Humbatova, Aytaj; Liu, Yuanxiang; Qin, Wen; Lee, Mingyang; Cesarato, Nicole; Kortuem, Fanny; Kumar, Sheetal; Romano, Maria Teresa; Dai, Shangzhi; Mo, Ran; Sivalingam, Sugirthan; Motameny, Susanne; Wu, Yuan; Wang, Xiaopeng; Niu, Xinwu; Geng, Songmei; Bornholdt, Dorothea; Kroisel, Peter M.; Tadini, Gianluca; Walter, Scott D.; Hauck, Fabian; Girisha, Katta M.; Calza, Anne-Marie; Bottani, Armand; Altmueller, Janine; Buness, Andreas; Yang, Shuxia; Sun, Xiujuan; Ma, Lin; Kutsche, Kerstin; Grzeschik, Karl-Heinz; Betz, Regina C. und Lin, Zhimiao
(2020):
Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome.
In: American Journal of Human Genetics, Bd. 107, Nr. 1: S. 34-45
Tafazzoli, Aylar; Forstner, Andreas J.; Broadley, David; Hofmann, Andrea; Redler, Silke; Petukhova, Lynn; Giehl, Kathrin A.; Kruse, Roland; Blaumeiser, Bettina; Böhm, Markus; Bertolini, Marta; Rossi, Alfredo; Bartels, Natalie Garcia; Lutz, Gerhard; Wolff, Hans; Blume-Peytavi, Ulrike; Soreq, Hermona; Christiano, Angela M.; Botchkareva, Natalia V.; Nöthen, Markus M. und Betz, Regina C.
(2018):
Genome-Wide MicroRNA Analysis Implicates miR-30b/d in the Etiology of Alopecia Areata.
In: Journal of Investigative Dermatology, Bd. 138, Nr. 3: S. 549-556
Redler, Silke; Basmanav, F. Buket Ue.; Blaumeiser, Bettina; Bartels, Natalie Garcia; Lutz, Gerhard; Tafazzoli, Aylar; Kruse, Roland; Wolff, Hans; Böhm, Markus; Blume-Peytavi, Ulrike; Becker, Tim; Nöthen, Markus M. und Betz, Regina C.
(2017):
Parent-of-origin Effect in Alopecia Areata: A Large-scale Pedigree Study.
In: Acta Dermato-Venereologica, Bd. 97, Nr. 7: S. 862-863
Fischer, Johannes; Degenhardt, Franziska; Hofmann, Andrea; Redler, Silke; Basmanav, F. Buket; Heilmann-Heimbach, Stefanie; Hanneken, Sandra; Giehl, Kathrin A.; Wolff, Hans; Möbus, Susanne; Kruse, Roland; Lutz, Gerhard; Blaumeiser, Bettina; Böhm, Markus; Bartels, Natalie Garcia; Blume-Peytavi, Ulrike; Petukhova, Lynn; Christiano, Angela M.; Nöthen, Markus M. und Betz, Regina C.
(2017):
Genomewide analysis of copy number variants in alopecia areata in a Central European cohort reveals association with MCHR2.
In: Experimental Dermatology, Bd. 26, Nr. 6: S. 536-541
Giehl, Kathrin A.; Herzinger, Thomas; Wolff, Hans; Sardy, Miklós; Braunmühl, Tanja von; Dekeule-Neer, Valerie; Sznajer, Yves; Tennstedt, Dominique; Boes, Pascaline; Rapprich, Stefan; Wagner, Nicola; Betz, Regina C.; Braun-Falco, Markus; Strom, Tim; Ruzicka, Thomas und Eckstein, Gertrud N.
(2016):
Eight Novel Mutations Confirm the Role of AAGAB in Punctate Palmoplantar Keratoderma Type 1 (Buschke-Fischer-Brauer) and Show Broad Phenotypic Variability.
In: Acta Dermato-Venereologica, Bd. 96, Nr. 4: S. 468-472
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Adam, Ronja; Spier, Isabel; Zhao, Bixiao; Kloth, Michael; Marquez, Jonathan; Hinrichsen, Inga; Kirfel, Jutta; Tafazzoli, Aylar; Horpaopan, Sukanya; Uhlhaas, Siegfried; Stienen, Dietlinde; Friedrichs, Nicolaus; Altmueller, Janine; Laner, Andreas; Holzapfel, Stefanie; Peters, Sophia; Kayser, Katrin; Thiele, Holger; Holinski-Feder, Elke; Marra, Giancarlo; Kristiansen, Glen; Nöthen, Markus M.; Buettner, Reinhard; Möslein, Gabriela; Betz, Regina C.; Brieger, Angela; Lifton, Richard P. und Aretz, Stefan
(2016):
Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.
In: American Journal of Human Genetics, Bd. 99, Nr. 2: S. 337-351
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; Jong, Annemieke de; 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; Bakker, Paul I. W. de; Noethen, Markus M.; Daly, Mark J. und Christiano, Angela M.
(2015):
Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci.
In: Nature Communications, Bd. 6, 5966
[PDF, 1MB]
Verma, Shyam; Pasternack, Sandra M.; Ruetten, Arno; Ruzicka, Thomas; Betz, Regina C. und Hanneken, Sandra
(2014):
The First Report of KRT5 Mutation Underlying Acantholytic Dowling-Degos Disease with Mottled Hypopigmentation in an Indian Family.
In: Indian Journal of Dermatology, Bd. 59, Nr. 5: S. 476-480