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Genome-wide CNV analysis in 221 unrelated patients and targeted high-throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposis Horpaopan, Sukanya; Spier, Isabel; Zink, Alexander M.; Altmueller, Janine; Holzapfel, Stefanie; Laner, Andreas; Vogt, Stefanie; Uhlhaas, Siegfried; Heilmann, Stefanie; Stienen, Dietlinde; Pasternack, Sandra M.; Keppler, Kathleen; Adam, Ronja; Kayser, Katrin; Moebus, Susanne; Draaken, Markus; Degenhardt, Franziska; Engels, Hartmut; Hofmann, Andrea; Noethen, Markus M.; Steinke, Verena; Perez-Bouza, Alberto; Herms, Stefan; Holinski-Feder, Elke; Froehlich, Holger; Thiele, Holger; Hoffmann, Per; Aretz, Stefan 分享 收藏
Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease Basmanav, F. Buket; Oprisoreanu, Ana-Maria; Pasternack, Sandra M.; Thiele, Holger; Fritz, Guenter; Wenzel, Joerg; Groesser, Leopold; Wehner, Maria; Wolf, Sabrina; Fagerberg, Christina; Bygum, Anette; Altmueller, Janine; Ruetten, Arno; Parmentier, Laurent; El Shabrawi-Caelen, Laila; Hafner, Christian; Nuernberg, Peter; Kruse, Roland; Schoch, Susanne; Hanneken, Sandra; Betz, Regina C. 分享 收藏
Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex Pasternack, Sandra M.; Refke, Melanie; Paknia, Elham; Hennies, Hans Christian; Franz, Thomas; Schaefer, Niklas; Fryer, Alan; van Steensel, Maurice; Sweeney, Elizabeth; Just, Miquel; Grimm, Clemens; Kruse, Roland; Ferrandiz, Carlos; Noethen, Markus M.; Fischer, Utz; Betz, Regina C. 分享 收藏
Nonsense Mutations in AAGAB Cause Punctate Palmoplantar Keratoderma Type Buschke-Fischer-Brauer Giehl, Kathrin A.; Eckstein, Gertrud N.; Pasternack, Sandra M.; Praetzel-Wunder, Silke; Ruzicka, Thomas; Lichtner, Peter; Seidl, Kerstin; Rogers, Mike; Graf, Elisabeth; Langbein, Lutz; Braun-Falco, Markus; Betz, Regina C.; Strom, Tim M. 分享 收藏
Follow-Up Study of the First Genome-Wide Association Scan in Alopecia Areata: IL13 and KIAA0350 as Susceptibility Loci Supported with Genome-Wide Significance Jagielska, Dagny; Redler, Silke; Brockschmidt, Felix F.; Herold, Christine; Pasternack, Sandra M.; Bartels, Natalie Garcia; Hanneken, Sandra; Eigelshoven, Sibylle; Refke, Melanie; Barth, Sandra; Giehl, Kathrin A.; Kruse, Roland; Lutz, Gerhard; Wolff, Hans; Blaumeiser, Bettina; Boehm, Markus; Blume-Peytavi, Ulrike; Becker, Tim; Noethen, Markus M.; Betz, Regina C. 分享 收藏
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FZD6 encoding the Wnt receptor frizzled 6 is mutated in autosomal-recessive nail dysplasia Naz, G.; Pasternack, S. M.; Perrin, C.; Mattheisen, M.; Refke, M.; Khan, S.; Gul, A.; Simons, M.; Ahmad, W.; Betz, R. C. 分享 收藏
Functional analysis of splice site mutations in the human hairless (HR) gene using a minigene assay Refke, M.; Pasternack, S. M.; Fiebig, B.; Wenzel, S.; Ishorst, N.; Ludwig, M.; Noethen, M. M.; Seyger, M. M.; Hamel, B. C.; Betz, R. C. 分享 收藏
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Systematic mutation screening of KRT5 supports the hypothesis that Galli-Galli disease is a variant of Dowling-Degos disease Hanneken, S.; Ruetten, A.; Pasternack, S. M.; Eigelshoven, S.; El Shabrawi-Caelen, L.; Wenzel, J.; Braun-Falco, M.; Ruzicka, T.; Noethen, M. M.; Kruse, R.; Betz, R. C. 分享 收藏
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G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth G蛋白偶联受体P2Y5及其配体LPA参与维持人类毛发生长 Pasternack, Sandra M.; von Kuegelgen, Ivar; Al Aboud, Khalid; Lee, Young-Ae; Rueschendorf, Franz; Voss, Katrin; Hillmer, Axel M.; Molderings, Gerhard J.; Franz, Thomas; Ramirez, Alfredo; Nuernberg, Peter; Noethen, Markus M.; Betz, Regina C. 分享 收藏
Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease Betz, RC; Planko, L; Eigelshoven, S; Hanneken, S; Pasternack, SM; Büssow, H; Van den Bogaert, K; Wenzel, J; Braun-Falco, M; Rütten, A; Rogers, MA; Ruzicka, T; Nöthen, MM; Magin, TM; Kruse, R 分享 收藏
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