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A Novel Homozygous Loss-of-Function Variant in GPR156 Delineates Non-syndromic Hearing Loss
Biochemical GeneticsNon-syndromic hearing loss (NSHL) is a genetically heterogeneous disorder accounting for almost 70% of the total congenital hearing loss. The implementation of rapid advanced sequencing methods has significantly contributed to the correct molecular diagnosis for several rare genetic disorders, including NHSL.M Muaaz, Aslam, Safdar, Abbas, Shoaib, Nawaz, Gohar, Zaman, Ishtiaq, Ahmed, Misbahuddin, Rafeeq, Ziaullah M, Sain, Alaa Hamed, Habib, Muhammad, Umair, Khadim, Shah +9 moreopenaire +2 more sourcesGenetic analysis of patients with low-frequency non-syndromic hearing loss
Molecular Genetics and GenomicsLow-frequency non-syndromic hearing loss (LFNSHL) is a rare auditory disorder affecting frequencies ≤ 2000 Hz. To elucidate its genetic basis, we conducted whole-exome sequencing on nine Chinese families (31 affected individuals) with LFNSHL. Four heterozygous pathogenic variants, including two novel variants, were identified in common LFNSHL-related ...Sha Yu, Weitao Li, Xinhao Lin, Liheng Chen, Wenxia Chen, Luo Guo, Yilai Shu +6 moreopenaire +2 more sourcesGenetic Non-Syndromic Hearing Loss in Turkey
2011 Hearing loss is the most common congenital disorder. A moderate to profound hearing loss is encountered in 1 to 4 per 1,000 live births, and there is a genetic etiology in 60%. Two hundred and sixty Turkish children with genetic non-syndromic profound hearing loss and 67 healthy controls were screened. The pattern of inheritance was DFNB in 87.5%, DFNA openaire +1 more sourceNon-syndromal Hearing Loss
2009 Stephan J. Froehlich, Carlo A. Lackerbauer, Guenter Rudolph, Jan Rémi, Soheyl Noachtar, Werner J. Heppt, Annette Cryer, Hans-Peter Zenner, Hans Helmut Niller, Fritz Schwarzmann, Hans Wolf, Thomas Frieling, Alexander K. C. Leung, Carina Wallgren-Pettersson, Hans H. Goebel, François Jouret, Olivier Devuyst, Massimo Attanasio, Friedhelm Hildebrandt, Vivekanand Jha, Kirpal S. Chugh, Anthony M. Marinaki, H. Anne Simmonds, Xiaoyan Zhou, Edward D. Frohlich, Vladimir Tesar, Hannu Jalanko, Vinzenz Oji, Heiko Traupe, Adrian Danek, Corrado Angelini, Dieter Kaufmann, Dieter Kaufmann, Michael Weller, Johannes Kornhuber, Angela Vincent, John Newsom-Davis, Sara Mole, Ruth Williams, Jonathan Baets, C. Oliver Hanemann, Peter Jonghe, Ian Holt, Thomas Klopstock, Massimo Zeviani, Klaus Ley, Emily Smith, Masaaki Shiohara, Alexander K. C. Leung, William Lane M. Robson, Eirini I. Brokalaki, Stephan Grabbe, Carmen Loquai, Donatus Nohr, Donatus Nohr, Jürgen Gallinat, Edward H. Schuchman, Robert J. Desnick, Christina Zeitz, Shuki Mizutani, Jordan S. Orange, Jeffrey P. Weiss, Jerry G. Blaivas, William Lane M. Robson, Alexander K. C. Leung, Lucia K. Ma, Patrick T. S. Ma, Alexander K. C. Leung, Peter E. H. Schwarz, Jiang Li, Derek LeRoith, Shigeo Kure, Keiya Tada, Jochen Utikal, Alexei Gratchev, Sergij Goerdt, Marco Senzolo, Elena Piovesana, Lajos Okolicsanyi, Andrew K. Burroughs, Erik A. Sistermans, Jutta Engel, M. Dominik Fischer, Wolfgang Berger, Maria Grazia Tozzi, Vanna Micheli, Alexander K. C. Leung, William Lane M. Robson +87 moreopenaire +1 more sourceHearing Loss, Non-syndromal
2009 Dieter Metze, Vanessa F. Cury, Ricardo S. Gomez, Luiz Marco, Dror Robinson, Eitan Melamed, Alexander K. C. Leung, Jae-Hwan Nam, Yoichi Matsubara, Keiya Tada, Seda Sancak, Ralf Paschke, Susan Kupka, Stefan K. Plontke, Hans-Peter Zenner, Susan Kupka, Gohar Azhar, Jeanne Y. Wei, Y. James Kang, Katsuhiko Yoshizawa, Abraham Nyska, Graeme Jones, Kathy Triantafilou, Philipp M. Lepper, Alexander K. C. Leung, Johannes G. Bode, Johannes G. Bode, Clifford E. Kashtan, Klaus Schümann, Günter Weiss, Christine Skerka, Christoph Licht, Peter F. Zipfel, Hugo ten Cate, Hugo ten Cate, Hugo ten Cate, Mark Oette, Dieter Häussinger, Isabelle L. Ruel, Patrick Couture, Benoît Lamarche, Sören V. Siegmund, Stephan L. Haas, Manfred V. Singer, Tobias Heintges, Ralf Kubitz, Dieter Häussinger, Andreas Erhardt, Andreas Erhardt, Frank Lammert, Johann Lorenzen, Hubert E. Blum, Darius Moradpour, Ralf Kubitz, Georg Merker, Dieter Häussinger, Matthias Wettstein, Matthias Wettstein, Mónica Guevara, Pere Ginès, Hugo Ten Cate, Alexander K. C. Leung, Ulrich Heininger, Markus Pfister, Hans-Peter Zenner, Marcus Schmitt, Arend F. L. Schinkel, Don Poldermans, Jeroen J. Bax, Heimo Mairbäurl, Peter Bärtsch, Ralf Kubitz, Georg H. Merker, Dieter Häussinger, Percy Chiu, Richard S. Legro, William L. Nyhan, Sandeep S. Dave, Jürgen Kohlhase, Arne W. J. H. Dielis, Hugo ten Cate, S. Harvey Mudd, Christian Simon, Oliver Schildgen, Suncanica Ljubin Sternak, Gordana Mlinaric-Galinovic, Eggert Stockfleth, Ingo Nindl, Inga Zerr, Mathias Bähr, Nicole Stankus, Katrin S. Lindenberg, G. Bernhard Landwehrmeyer, Jonas Denecke, Alexander K. C. Leung, Shoichi Katsuragi, Bodo Grimbacher, Cristina Woellner, Steven Holland, Christian A. Koch, Christian A. Koch, Michael T. Geraghty, Peter L. M. Jansen, Robert P. Whitehead, Edward M. Brown, Mei Bai, T. John Martin, Joaquin Escribano, Victor M. Garca Nieto, Patrick TS Ma, Lucia K Ma, Alexander K. C Leung, Angelika F. Hahn, Mallikarjuna Nallegowda, Upinderpal Singh, Mangajji R. Umapathi, Rakesh Kumar, Hugo ten Cate, Hugo ten Cate, Raffaele Badolato, Benjamin Glaser, Ruth Schreiber, Daniel Landau, Keiya Tada, Yoichi Matsubara, Goo Taeg Oh, Carla Kallen, Joel Michels Topf, Patrick Murray, S. Harvey Mudd, Jaime Tejedor, Mallikarjuna Nallegowda, Upinderpal Singh, Rakesh Kumar, Manish Kumar Varshney, Mallikarjuna Nallegowda, Upinderpal Singh, Rakesh Kumar, Kanya Suphapeetiporn, Vorasuk Shotelersuk, Bernd Hoppe, Albrecht Hesse, Geoffrey N. Hendy, David E. C. Cole, Charles R. Nolan, Haruo Shintaku, Hiroshi Ichinose, Henry J. Mankin, Christian A. Koch, Gabriel I. Uwaifo, Bettina C. Reulecke, Jonas Denecke, Werner Heppt, Annette Cryer, Rade Tomic, Jesse Roman, Jan Rémi, Soheyl Noachtar, Miki Nagase, Toshiro Fujita, Angel Cogolludo, Jason X.-J. Yuan, Lewis J. Rubin, Manning R. Davis, T. Balakrishna Poduval, Saurabh Chatterjee, Hulya Iliksu Gozu, Markus Eszlinger, Rifat Bircan, Ralf Paschke, Hulya Iliksu Gozu, Julia Lüblinghoff, Rifat Bircan, Ralf Paschke, Hulya Iliksu Gozu, Julia Lüblighoff, Rifat Bircan, Roland Pfäffle, Ralf Paschke, Shui-Ping Zhao, Hui-Jun Ye, Jens Mogensen, Rejin Kebudi, Sezer Saglam, Michael A. Becker, John R. Asplin, Keiya Tada, Yoichi Matsubara, Robert W. Gotshall, Christian A. Koch, Hubert Scharnagl, Winfried März, John A. Sayer, Simon H. Pearce, James J. Paparello, Philip J. Klemmer, Abhijit V. Kshirsagar, Patrick T. S. Ma, Lucia K. Ma, Alexander K. C. Leung +199 moreopenaire +1 more source
