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Regina Betz
Regina Betz
Prof. für Dermatogenetik, Universität Bonn
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Cited by
Year
Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study
PC Haycock, S Burgess, A Nounu, J Zheng, GN Okoli, J Bowden, ...
JAMA oncology, 2017
4862017
G protein–coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth
SM Pasternack, I von Kügelgen, K Al Aboud, YA Lee, F Rüschendorf, ...
Nature genetics 40 (3), 329-334, 2008
4672008
Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease
RC Betz, L Planko, S Eigelshoven, S Hanneken, SM Pasternack, ...
The American Journal of Human Genetics 78 (3), 510-519, 2006
2982006
Genetic variation in the human androgen receptor gene is the major determinant of common early-onset androgenetic alopecia
AM Hillmer, S Hanneken, S Ritzmann, T Becker, J Freudenberg, ...
The American Journal of Human Genetics 77 (1), 140-148, 2005
2842005
Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci
RC Betz, L Petukhova, S Ripke, H Huang, A Menelaou, S Redler, ...
Nature communications 6, 2015
2702015
The brain in myotonic dystrophy 1 and 2: evidence for a predominant white matter disease
M Minnerop, B Weber, JC Schoene-Bake, S Roeske, S Mirbach, ...
Brain, awr299, 2011
2532011
Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis
R Adam, I Spier, B Zhao, M Kloth, J Marquez, I Hinrichsen, J Kirfel, ...
The American Journal of Human Genetics 99 (2), 337-351, 2016
2512016
Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease
RC Betz, BGH Schoser, D Kasper, K Ricker, A Ramírez, V Stein, ...
Nature genetics 28 (3), 218-219, 2001
2472001
Corrigendum: Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis
Y Wen, Y Liu, Y Xu, Y Zhao, R Hua, K Wang, M Sun, Y Li, S Yang, ...
Nature Genetics 41 (6), 762-762, 2009
215*2009
Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis (vol 41, pg 228, 2009)
Y Wen, Y Liu, Y Xu, Y Zhao, R Hua, K Wang, M Sun, Y Li, S Yang, ...
NATURE GENETICS 41 (6), 762-762, 2009
215*2009
Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin
E Levy-Nissenbaum, RC Betz, M Frydman, M Simon, H Lahat, T Bakhan, ...
Nature genetics 34 (2), 151-153, 2003
2152003
Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis
Y Wen, Y Liu, Y Xu, Y Zhao, R Hua, K Wang, M Sun, Y Li, S Yang, ...
Nature genetics 41 (2), 228-233, 2009
2132009
IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response
F Oeffner, G Fischer, R Happle, A König, RC Betz, D Bornholdt, U Neidel, ...
The American Journal of Human Genetics 84 (4), 459-467, 2009
1812009
Susceptibility variants for male-pattern baldness on chromosome 20p11
AM Hillmer, FF Brockschmidt, S Hanneken, S Eigelshoven, M Steffens, ...
Nature genetics 40 (11), 1279-1281, 2008
1812008
Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease
FB Basmanav, AM Oprisoreanu, SM Pasternack, H Thiele, G Fritz, ...
The American Journal of Human Genetics 94 (1), 135-143, 2014
1702014
Genetic alterations in cervical carcinomas: Frequent low‐level amplifications of oncogenes are associated with human papillomavirus infection
A Zhang, S MÅNer, R Betz, T Ångström, U Stendahl, F Bergman, ...
International journal of cancer 101 (5), 427-433, 2002
1672002
Familial aggregation of alopecia areata
B Blaumeiser, I van der Goot, R Fimmers, S Hanneken, S Ritzmann, ...
Journal of the American Academy of Dermatology 54 (4), 627-632, 2006
1532006
Follow-Up Study of the First Genome-Wide Association Scan in Alopecia Areata: IL13 and KIAA0350 as Susceptibility Loci Supported with Genome-Wide …
D Jagielska, S Redler, FF Brockschmidt, C Herold, SM Pasternack, ...
Journal of Investigative Dermatology 132 (9), 2192-2197, 2012
1362012
Loss-of-Function Mutations in the Filaggrin Gene and Alopecia Areata: Strong Risk Factor for a Severe Course of Disease in Patients Comorbid for Atopic Disease
RC Betz, J Pforr, A Flaquer, S Redler, S Hanneken, S Eigelshoven, ...
Journal of Investigative Dermatology 127 (11), 2539-2543, 2007
1342007
Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome
FBÜ Basmanav, L Cau, A Tafazzoli, MC Méchin, S Wolf, MT Romano, ...
The American Journal of Human Genetics 99 (6), 1292-1304, 2016
1302016
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