Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis
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
Published in American journal of human genetics (04.08.2016)
Published in American journal of human genetics (04.08.2016)
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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, 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.
Published in American journal of human genetics (02.01.2014)
Published in American journal of human genetics (02.01.2014)
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The brain in myotonic dystrophy 1 and 2: evidence for a predominant white matter disease
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
Published in Brain (London, England : 1878) (01.12.2011)
Published in Brain (London, England : 1878) (01.12.2011)
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Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
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.
Published in American journal of human genetics (01.11.2018)
Published in American journal of human genetics (01.11.2018)
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Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
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
Published in American journal of human genetics (02.07.2020)
Published in American journal of human genetics (02.07.2020)
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Whole-exome sequencing in eccrine porocarcinoma indicates promising therapeutic strategies
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
Published in Cancer gene therapy (01.06.2022)
Published in Cancer gene therapy (01.06.2022)
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Lysophosphatidic acid receptor LPAR6 supports the tumorigenicity of hepatocellular carcinoma
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
Published in Cancer research (Chicago, Ill.) (01.02.2015)
Published in Cancer research (Chicago, Ill.) (01.02.2015)
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Evidence for a functional interaction of WNT10A and EBF1 in male-pattern baldness
Hochfeld, Lara M, Bertolini, Marta, Broadley, David, Botchkareva, Natalia V, Betz, Regina C, Schoch, Susanne, Nöthen, Markus M, Heilmann-Heimbach, Stefanie
Published in PloS one (10.09.2021)
Published in PloS one (10.09.2021)
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Tracking the brain in myotonic dystrophies: A 5-year longitudinal follow-up study
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
Published in PloS one (07.03.2019)
Published in PloS one (07.03.2019)
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G protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth
Pasternack, Sandra M, Molderings, Gerhard J, Voss, Katrin, Betz, Regina C, Nöthen, Markus M, Aboud, Khalid Al, Lee, Young-Ae, Hillmer, Axel M, Ramirez, Alfredo, Rüschendorf, Franz, Nürnberg, Peter, Franz, Thomas, von Kügelgen, Ivar
Published in Nature genetics (01.03.2008)
Published in Nature genetics (01.03.2008)
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Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature
Begemann, Matthias, Spengler, Sabrina, Gogiel, Magdalena, Grasshoff, Ute, Bonin, Michael, Betz, Regina C, Dufke, Andreas, Spier, Isabel, Eggermann, Thomas
Published in Journal of Medical Genetics (01.09.2012)
Published in Journal of Medical Genetics (01.09.2012)
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Book Review
Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia
ZHIMIAOLIN, QUANCHEN, RUO XIAO, XUANZHU LIU, LANLAN DAI, XUEJUN ZHU, RUOYU LI, BETZ, Regina C, XUE ZHANG, YONG YANG, LEISHI, MINGYANG LEE, GIEHL, Kathrin A, ZHANLI TANG, HUIJUNWANG, JIEZHANG, JINGHUA YIN, LINGSHEN WU
Published in American journal of human genetics (02.11.2012)
Published in American journal of human genetics (02.11.2012)
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UV-sensitive syndrome: Whole exome sequencing identified a nonsense mutation in the gene UVSSA in two consanguineous pedigrees from Pakistan
Ijaz, Ambreen, Wolf, Sabrina, Mandukhail, Safur Rehman, Basit, Sulman, Betz, Regina C, Wali, Abdul
Published in Journal of dermatological science (01.09.2019)
Published in Journal of dermatological science (01.09.2019)
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Androgenetic Alopecia: Identification of Four Genetic Risk Loci and Evidence for the Contribution of WNT Signaling to Its Etiology
Heilmann, Stefanie, Kiefer, Amy K., Fricker, Nadine, Drichel, Dmitriy, Hillmer, Axel M., Herold, Christine, Tung, Joyce Y., Eriksson, Nicholas, Redler, Silke, Betz, Regina C., Li, Rui, Kárason, Ari, Nyholt, Dale R., Song, Kijoung, Vermeulen, Sita H., Kanoni, Stavroula, Dedoussis, George, Martin, Nicholas G., Kiemeney, Lambertus A., Mooser, Vincent, Stefansson, Kari, Brent Richards, J., Becker, Tim, Brockschmidt, Felix F., Hinds, David A., Nöthen, Markus M.
Published in Journal of investigative dermatology (01.06.2013)
Published in Journal of investigative dermatology (01.06.2013)
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A woman with hyperpigmented macules and papules
Schnabel, Viktor, Hermasch, Matthias A., Wolf, Sabrina, Schön, Michael P., Betz, Regina C., Frank, Jorge
Published in Journal der Deutschen Dermatologischen Gesellschaft (01.11.2021)
Published in Journal der Deutschen Dermatologischen Gesellschaft (01.11.2021)
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Uncombable hair improved by biotin
Drivenes, Jakob L., Grimalt, Ramon, Betz, Regina C., Bygum, Anette
Published in JEADV clinical practice (01.06.2023)
Published in JEADV clinical practice (01.06.2023)
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Nonsense Mutations in AAGAB Cause Punctate Palmoplantar Keratoderma Type Buschke-Fischer-Brauer
GIEHL, Kathrin A, ECKSTEIN, Gertrud N, BRAUN-FALCO, Markus, BETZ, Regina C, STROM, Tim M, PASTERNACK, Sandra M, PRAETZEL-WUNDER, Silke, RUZICKA, Thomas, LICHTNER, Peter, SEIDL, Kerstin, ROGERS, Mike, GRAF, Elisabeth, LANGBEIN, Lutz
Published in American journal of human genetics (05.10.2012)
Published in American journal of human genetics (05.10.2012)
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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, Schäfer, Niklas, Fryer, Alan, van Steensel, Maurice, Sweeney, Elizabeth, Just, Miquel, Grimm, Clemens, Kruse, Roland, Ferrándiz, Carlos, Nöthen, Markus M., Fischer, Utz, Betz, Regina C.
Published in American journal of human genetics (10.01.2013)
Published in American journal of human genetics (10.01.2013)
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Congenital Anonychia and Uncombable Hair Syndrome: Coinheritance of Homozygous Mutations in RSPO4 and PADI3
Hsu, Chao-Kai, Romano, Maria Teresa, Nanda, Arti, Rashidghamat, Ellie, Lee, John Y.W., Huang, Hsin-Yu, Songsantiphap, Chankiat, Lee, Julia Yu-Yun, Al-Ajmi, Hejab, Betz, Regina C., Simpson, Michael A., McGrath, John A., Tziotzios, Christos
Published in Journal of investigative dermatology (01.05.2017)
Published in Journal of investigative dermatology (01.05.2017)
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Genome-Wide MicroRNA Analysis Implicates miR-30b/d in the Etiology of Alopecia Areata
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, Garcia Bartels, Natalie, Lutz, Gerhard, Wolff, Hans, Blume-Peytavi, Ulrike, Soreq, Hermona, Christiano, Angela M., Botchkareva, Natalia V., Nöthen, Markus M., Betz, Regina C.
Published in Journal of investigative dermatology (01.03.2018)
Published in Journal of investigative dermatology (01.03.2018)
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