Mutations in TPRN Cause a Progressive Form of Autosomal-Recessive Nonsyndromic Hearing Loss

par Li, Yun, Pohl, Esther, Boulouiz, Redouane, Schraders, Margit, Nürnberg, Gudrun, Charif, Majida, Admiraal, Ronald J.C., von Ameln, Simon, Baessmann, Ingelore, Kandil, Mostafa, Veltman, Joris A., Nürnberg, Peter, Kubisch, Christian, Barakat, Abdelhamid, Kremer, Hannie, Wollnik, Bernd
Publié 2010

Functional characterization of the GUCY1A3 coronary artery disease risk locus

par Kessler, Thorsten, Wobst, Jana, Wolf, Bernhard, Eckhold, Juliane, Vilne, Baiba, Hollstein, Ronja, von Ameln, Simon, Dang, Tan An, Sager, Hendrik B., Rumpf, Philipp Moritz, Aherrahrou, Redouane, Kastrati, Adnan, Björkegren, Johan L.M., Erdmann, Jeanette, Lusis, Aldons J., Civelek, Mete, Kaiser, Frank J., Schunkert, Heribert
Publié dans Circulation (2017)

Craniosynostosis and Multiple Skeletal Anomalies in Humans and Zebrafish Result from a Defect in the Localized Degradation of Retinoic Acid

par Laue, Kathrin, Pogoda, Hans-Martin, Daniel, Philip B., van Haeringen, Arie, Alanay, Yasemin, von Ameln, Simon, Rachwalski, Martin, Morgan, Tim, Gray, Mary J., Breuning, Martijn H., Sawyer, Gregory M., Sutherland-Smith, Andrew J., Nikkels, Peter G., Kubisch, Christian, Bloch, Wilhelm, Wollnik, Bernd, Hammerschmidt, Matthias, Robertson, Stephen P.
Publié 2011

A genomic exploration identifies mechanisms that may explain adverse cardiovascular effects of COX-2 inhibitors

par Brænne, Ingrid, Willenborg, Christina, Tragante, Vinicius, Kessler, Thorsten, Zeng, Lingyao, Reiz, Benedikt, Kleinecke, Mariana, von Ameln, Simon, Willer, Cristen J., Laakso, Markku, Wild, Philipp S., Zeller, Tanja, Wallentin, Lars, Franks, Paul W., Salomaa, Veikko, Dehghan, Abbas, Meitinger, Thomas, Samani, Nilesh J., Asselbergs, Folkert W., Erdmann, Jeanette, Schunkert, Heribert
Publié dans Sci Rep (2017)

A Mutation in PNPT1, Encoding Mitochondrial-RNA-Import Protein PNPase, Causes Hereditary Hearing Loss

par von Ameln, Simon, Wang, Geng, Boulouiz, Redouane, Rutherford, Mark A., Smith, Geoffrey M., Li, Yun, Pogoda, Hans-Martin, Nürnberg, Gudrun, Stiller, Barbara, Volk, Alexander E., Borck, Guntram, Hong, Jason S., Goodyear, Richard J., Abidi, Omar, Nürnberg, Peter, Hofmann, Kay, Richardson, Guy P., Hammerschmidt, Matthias, Moser, Tobias, Wollnik, Bernd, Koehler, Carla M., Teitell, Michael A., Barakat, Abdelhamid, Kubisch, Christian
Publié 2012

Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features

par Lessel, Davor, Vaz, Bruno, Halder, Swagata, Lockhart, Paul J, Marinovic-Terzic, Ivana, Lopez-Mosqueda, Jaime, Philipp, Melanie, Sim, Joe C H, Smith, Katherine R, Oehler, Judith, Cabrera, Elisa, Freire, Raimundo, Pope, Kate, Nahid, Amsha, Norris, Fiona, Leventer, Richard J, Delatycki, Martin B, Barbi, Gotthold, von Ameln, Simon, Högel, Josef, Degoricija, Marina, Fertig, Regina, Burkhalter, Martin D, Hofmann, Kay, Thiele, Holger, Altmüller, Janine, Nürnberg, Gudrun, Nürnberg, Peter, Bahlo, Melanie, Martin, George M, Aalfs, Cora M, Oshima, Junko, Terzic, Janos, Amor, David J, Dikic, Ivan, Ramadan, Kristijan, Kubisch, Christian
Publié dans Nat Genet (2014)

Loss-of-Function Mutations of ILDR1 Cause Autosomal-Recessive Hearing Impairment DFNB42

par Borck, Guntram, Rehman, Atteeq Ur, Lee, Kwanghyuk, Pogoda, Hans-Martin, Kakar, Naseebullah, von Ameln, Simon, Grillet, Nicolas, Hildebrand, Michael S., Ahmed, Zubair M., Nürnberg, Gudrun, Ansar, Muhammad, Basit, Sulman, Javed, Qamar, Morell, Robert J., Nasreen, Nabilah, Shearer, A. Eliot, Ahmad, Adeel, Kahrizi, Kimia, Shaikh, Rehan S., Ali, Rana A., Khan, Shaheen N., Goebel, Ingrid, Meyer, Nicole C., Kimberling, William J., Webster, Jennifer A., Stephan, Dietrich A., Schiller, Martin R., Bahlo, Melanie, Najmabadi, Hossein, Gillespie, Peter G., Nürnberg, Peter, Wollnik, Bernd, Riazuddin, Saima, Smith, Richard J.H., Ahmad, Wasim, Müller, Ulrich, Hammerschmidt, Matthias, Friedman, Thomas B., Riazuddin, Sheikh, Leal, Suzanne M., Ahmad, Jamil, Kubisch, Christian
Publié 2011