Genetic lessons learned from pathogenic variants in KRT1 von Betz, Regina C.

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Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease von Basmanav, F. Buket, Oprisoreanu, Ana-Maria, Pasternack, Sandra M., Thiele, Holger, Fritz, Günter, Wenzel, Jörg, Größer, Leopold, Wehner, Maria, Wolf, Sabrina, Fagerberg, Christina, Bygum, Anette, Altmüller, Janine, Rütten, Arno, Parmentier, Laurent, El Shabrawi-Caelen, Laila, Hafner, Christian, Nürnberg, Peter, Kruse, Roland, Schoch, Susanne, Hanneken, Sandra, Betz, Regina C.

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Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis von Adam, Ronja, Spier, Isabel, Zhao, Bixiao, Kloth, Michael, Marquez, Jonathan, Hinrichsen, Inga, Kirfel, Jutta, Tafazzoli, Aylar, Horpaopan, Sukanya, Uhlhaas, Siegfried, Stienen, Dietlinde, Friedrichs, Nicolaus, Altmüller, Janine, Laner, Andreas, Holzapfel, Stefanie, Peters, Sophia, Kayser, Katrin, Thiele, Holger, Holinski-Feder, Elke, Marra, Giancarlo, Kristiansen, Glen, Nöthen, Markus M., Büttner, Reinhard, Möslein, Gabriela, Betz, Regina C., Brieger, Angela, Lifton, Richard P., Aretz, Stefan

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Evidence for a functional interaction of WNT10A and EBF1 in male-pattern baldness von Hochfeld, Lara M., Bertolini, Marta, Broadley, David, Botchkareva, Natalia V., Betz, Regina C., Schoch, Susanne, Nothen, Markus M., Heilmann-Heimbach, Stefanie

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Corporate Emissions-Trading Behaviour During the First Decade of the EU ETS von Abrell, Jan, Cludius, Johanna, Lehmann, Sascha, Schleich, Joachim, Betz, Regina

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Ausgewählte Genodermatosen – Stand der Dinge und Zukunftsaussichten von Frank, Jorge, Has, Cristina, Betz, Regina C.

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Selected genodermatoses – Status quo and future prospects von Frank, Jorge, Has, Cristina, Betz, Regina C.

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Genetics and other factors in the aetiology of female pattern hair loss von Redler, Silke, Messenger, Andrew G., Betz, Regina C.

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

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A girl with unruly locks: molecular genetics makes a diagnosis of uncombable hair syndrome von Drivenes, Jakob Lillemoen, Betz, Regina C, Bygum, Anette

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The Alopecia Areata Consensus of Experts (ACE) study: Results of an international expert opinion on treatments for alopecia areata von Meah, Nekma, Wall, Dmitri, York, Katherine, Bhoyrul, Bevin, Bokhari, Laita, Sigall, Daniel Asz, Bergfeld, Wilma F., Betz, Regina C., Blume-Peytavi, Ulrike, Callender, Valerie, Chitreddy, Vijaya, Combalia, Andrea, Cotsarelis, George, Craiglow, Brittany, Donovan, Jeff, Eisman, Samantha, Farrant, Paul, Green, Jack, Grimalt, Ramon, Harries, Matthew, Hordinsky, Maria, Irvine, Alan D., Itami, Satoshi, Jolliffe, Victoria, King, Brett, Lee, Won-Soo, McMichael, Amy, Messenger, Andrew, Mirmirani, Paradi, Olsen, Elise, Orlow, Seth J., Piraccini, Bianca Maria, Rakowska, Adriana, Reygagne, Pascal, Roberts, Janet L., Rudnicka, Lidia, Shapiro, Jerry, Sharma, Pooja, Tosti, Antonella, Vogt, Annika, Wade, Martin, Yip, Leona, Zlotogorski, Abraham, Sinclair, Rodney

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Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex von Romano, Maria-Teresa, Tafazzoli, Aylar, Mattern, Maximilian, Sivalingam, Sugirthan, Wolf, Sabrina, Rupp, Alexander, Thiele, Holger, Altmüller, Janine, Nürnberg, Peter, Ellwanger, Jürgen, Gambon, Reto, Baumer, Alessandra, Kohlschmidt, Nicolai, Metze, Dieter, Holdenrieder, Stefan, Paus, Ralf, Lütjohann, Dieter, Frank, Jorge, Geyer, Matthias, Bertolini, Marta, Kokordelis, Pavlos, Betz, Regina C.

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GestaltMatcher facilitates rare disease matching using facial phenotype descriptors von Hsieh, Tzung-Chien, Bar-Haim, Aviram, Moosa, Shahida, Ehmke, Nadja, Gripp, Karen W., Pantel, Jean Tori, Danyel, Magdalena, Mensah, Martin Atta, Horn, Denise, Rosnev, Stanislav, Fleischer, Nicole, Bonini, Guilherme, Hustinx, Alexander, Schmid, Alexander, Knaus, Alexej, Javanmardi, Behnam, Klinkhammer, Hannah, Lesmann, Hellen, Sivalingam, Sugirthan, Kamphans, Tom, Meiswinkel, Wolfgang, Ebstein, Frédéric, Krüger, Elke, Küry, Sébastien, Bézieau, Stéphane, Schmidt, Axel, Peters, Sophia, Engels, Hartmut, Mangold, Elisabeth, Kreiß, Martina, Cremer, Kirsten, Perne, Claudia, Betz, Regina C., Bender, Tim, Grundmann-Hauser, Kathrin, Haack, Tobias B., Wagner, Matias, Brunet, Theresa, Bentzen, Heidi Beate, Averdunk, Luisa, Coetzer, Kimberly Christine, Lyon, Gholson J., Spielmann, Malte, Schaaf, Christian P., Mundlos, Stefan, Nöthen, Markus M., Krawitz, Peter M.

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Variant PADI3 in Central Centrifugal Cicatricial Alopecia von Malki, Liron, Sarig, Ofer, Romano, Maria-Teresa, Méchin, Marie-Claire, Peled, Alon, Pavlovsky, Mor, Warshauer, Emily, Samuelov, Liat, Uwakwe, Laura, Briskin, Valeria, Mohamad, Janan, Gat, Andrea, Isakov, Ofer, Rabinowitz, Tom, Shomron, Noam, Adir, Noam, Simon, Michel, McMichael, Amy, Dlova, Ncoza C, Betz, Regina C, Sprecher, Eli

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Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome von Wang, Huijun, Humbatova, Aytaj, Liu, Yuanxiang, Qin, Wen, Lee, Mingyang, Cesarato, Nicole, Kortüm, 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, Altmüller, Janine, Buness, Andreas, Yang, Shuxia, Sun, Xiujuan, Ma, Lin, Kutsche, Kerstin, Grzeschik, Karl-Heinz, Betz, Regina C., Lin, Zhimiao

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Whole-exome sequencing in eccrine porocarcinoma indicates promising therapeutic strategies von 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

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Dermatological diseases from a genetic perspective von Betz, Regina C., Hüffmeier, Ulrike

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First East Asian case of uncombable hair syndrome von Li, Ye, Xiong, Xing, Cesarato, Nicole, Wehner, Maria, Basmanav, F. Buket, Betz, Regina C.

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Lysophosphatidic acid receptor LPAR6 supports the tumorigenicity of hepatocellular carcinoma von Mazzocca, Antonio, Dituri, Francesco, De Santis, Flavia, Filannino, Addolorata, Lopane, Chiara, Betz, Regina C, Li, Ying-Yi, Mukaida, Naofumi, Winter, Peter, Tortorella, Cosimo, Giannelli, Gianluigi, Sabbà, Carlo

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Transfer patterns in Phase I of the EU Emissions Trading System: a first reality check based on cluster analysis von Betz, Regina A., Schmidt, Tobias S.

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