Frequency of mitochondrial m.1555A > G mutation in Syrian patients with non-syndromic hearing impairment

Autor: Aftab Ali Shah, Mutaz Amin, Mohamed A. Hassan, Hazem Kaheel, Yousuf Bakhit, Marlies Kniper, Andreas Breß

Publikováno v: BMC Ear, Nose and Throat Disorders, Vol 18, Iss 1, Pp 1-4 (2018)
BMC Ear, Nose, and Throat Disorders

Background Mitochondrial maternally inherited hearing impairment (HI) appears to be increasing in frequency. The incidence of mitochondrial defects causing HI is estimated to be between 6 and 33% of all hearing deficiencies. Mitochondrial m.1555A > G

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::739e040a9b446d891f876e4224c63ef0
http://link.springer.com/article/10.1186/s12901-018-0055-2

Frequency of c.35delG Mutation in GJB2 Gene (Connexin 26) in Syrian Patients with Nonsyndromic Hearing Impairment

Autor: Mutaz Amin, Hazem Kaheel, Yousuf Bakhit, Marlies Kniper, Aftab Ali Shah, Mohamed A. Hassan, Andreas Breß

Publikováno v: Genetics Research International, Vol 2017 (2017)

Background. Hearing impairments (HI) are the most common birth defect worldwide. Very large numbers of genes have been identified but the most profound is GJB2. The clinical interest regarding this gene is very pronounced due to its high carrier freq

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30543fd6d9b4f97b060a8e9e37a63eb0

Contents Vol. 29, 2012

Autor: Yonggang Lu, Michael Reppel, Suozhu Shi, Nikolaus Blin, Louis Ruiz, Patricia R. M. Rocco, Pei Wang, Ting Zhang, Yicun Chen, Yamila V. Carmona Viglianco, Andreas Breß, Fanqin Zeng, Jaime Mas-Oliva, Soraia G. Abreu, Guibo Sun, Mingli Jin, Debora G. Xisto, Silke Haerteis, Carina Lammers, María Antonia Cid, Shefalee K. Bhavsar, Jun Zhang, Wolf-Michael Weber, Xueguang Zhang, Ilsley Colton, Yijin Luo, Tomoyuki Nishizaki, Enrique Jaimovich, Adriana L. Silva, Silvia del Valle Alonso, George Osol, Carlos Facundo Temprana, Verena Jendrossek, Hoo Kyun Choi, Shaoheng He, Zhihua Liu, Mu Li, Maurizio Mandalà, Yanfang Han, Henning Reis, Katja Steinke, Jochen Müller-Ehmsen, Marcelo M. Morales, Nadine Bangel-Ruland, Yvonne Knieper, David Mears, Odile Sergent, Lumian Zhang, Ana Cecilia Anzulovich, Tomo Saric, Xiaoyu Yu, Dan Yang, Nora Riveros, Dennis Rottländer, Xiaoning Zeng, Hitomi Kamiya, Min Cao, Theresa Dartsch, Xavier Tekpli, Lin Dou, Guiscard Seebohm, Ping Xie, Shuwen Liu, Heinrich Sticht, Yu Zheng, Ethel García-Latorre, Tanqi Lou, Kurt Pfannkuche, Zongfang Li, Ying He, María Antonia Martínez, Alicia Ortega, Dagoberto Delgado-Franco, Carlos A. Marra, Ximena Leighton, Daniel Schaal, Quan Hong, Haiwei Yang, Veronica A. Peotta, Ke Li, Carsten Zobel, Xu Zeng, Nathalie Strutz-Seebohm, Dominik Heider, Illani Atwater, Aldo Tirado-Cortes, Jessica Morgner, Guozhen Tan, Mathias C. Brandt, Jude S. Morton, Cui-Cui Li, Geraldine Leier, Xiaobo Sun, Guomin Ren, Tao Shen, Gang Hu, Eduardo Rojas, Miki Honda, Hannes Reuter, Claudine Irles, Stefan Brüschke, Yuansheng Xie, Gianna-Carina Gruen, Xiaoluan Liu, Jinhong Zheng, Jian Li, Charles L. Zimliki, Takeshi Kanno, Limei Zhang, Gonzalo Jorquera, Xiaofeng Le, Xiangmei Chen, Silvana S. Meyrelles, Dominique Lagadic-Gossmann, Jesús Vega-Moreno, Dong-Im Cho, R. Alvarez, Yong Man, Kurt Werner Schmid, Zohreh Hosseinzadeh, Suyun Ji, Ulrike Henrion, Sven Zumhagen, Zhidong Wang, Toni Schneider, Elisardo C. Vasquez, Kyeong-Man Kim, Akinobu Gotoh, Stephan Schwarzinger, Yang Lv, María Ángeles Trillo, Cui Li, Christoph Korbmacher, Magdalena Zak, ZunFu Ke, Ying Pan, Ae-Kyung Yi, Qing Guo, Simon Ockenpoehler, Birgit Stallmeyer, Kristian Schweimer, Marco Weiergraeber, Jørn A. Holme, Dario C. Ramirez, Katja Sobczak, Shu Wang, Rebecca M. Parodi-Rullán, Miguel Palacios-Sánchez, Yuanyuan Ji, Harvey B. Pollard, Meera Srivastava, Xun Liu, Julia Crosseti, Sabrina V. Martini, Hang Liu, Markus Pfister, Gabriel Peinkofer, Felix Brauer, Robert Rauh, Pablo Caviedes, Filomain Nguemo, Johnatas D. Silva, Jinzhi Wang, Shu Zhang, Marie-Thérèse Dimanche-Boitrel, Marlies Knipper, Laurence Huc, Rui Ding, Cheng Wang, José Casasnovas, Peter Ruth, Sandra T. Davidge, Jürgen Hescheler, Uta C. Hoppe, ZengChun Ye, Sandra E. Gomez-Mejiba, Nevenka Juretić, Alejandro Úbeda, Florian Lang, Paul Rösch, María Sofía Giménez, Can-Ming Li, So-Young Kim, Fengjun Wang, Mei Zheng, Xiuqing Huang, Niels Brandt, Mariela J. Coria, Li Zhang, Eric Schulze-Bahr, José Guzmán-Bárcenas, Giselle Barreto-Torres, Béatrice Dendelé, Manfred Watzele, Christoph Franz, Yumiko Fujita, Marcel Halbach, Joel Arias-Martínez, Daniel Kessler, Mirta Glassman, Sabzali Javadov, Takashi Nakano, Ying Tang

Publikováno v: Cellular Physiology and Biochemistry. 29:I-VI

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f748284b88f98a6f8d9f6e4ac7883529
https://doi.org/10.1159/000170420

Contents Vol. 26, 2010

Autor: Ioana Alesutan, Manuela Baur, Umberto De Marchi, Bing Wang, Jialin Zhang, José Antonio Porras, Maria Svelto, Ming-Zhi Zhang, Annekatrin Leder, Daniel Del Castillo, Yunlong Bai, Carmen Aguilar, Esther Grinfeld, Vanessa Checchetto, Fuxiao Guo, Yoshinori Marunaka, Dominique Eladari, Baofeng Yang, Dong-xin Liu, Xuezhong Chen, Bayram Edemir, Carlo Terruzzi, Shihong Lu, Xichuang Chen, Annette Schneider, Andrew J. McAinch, Ragaa H. M. Salama, Claudia Ulbrich, Saleh Alwasel, Zhimin Du, Liang Wang, Mohamed A. Mohamed, Burkhard Flick, Jianhua Feng, Dieter C. Gruenert, Jinhong Zheng, Ganggang Shi, Wenfeng Cai, Jim Swildens, Mercé Hernández, Mei Zhao, Giusy Sala, Jianming Ye, Hermann Pavenstaedt, Baoxin Li, Ming-Yue Dong, Michael Hollmann, Hossam Ebaid, Yong Zhang, Teresa Auguet, Jürgen A. Hampl, Xue-dong Li, Marcus Olbrich, Ute Schäfer, Domenica Lasorsa, Yong Guo, Hongli Shan, Jinlong Zhao, Dorothea Alexander, Shaoguang Yang, Marija Mihailova, Heba M. Saad Eldien, Svenja Pachernegg, Fenfei Gao, Donato Pastore, Zhongchao Han, Iihua Sun, Jacob Bak Holm, Siegmar Reinert, Yunuen Quintero, Lixia Yu, Akiyuki Taruno, Robert Rauh, Jian-sheng Wang, Elke Muth-Köhne, Qiong Luo, Mostafa R. Mohamed, Stefan Stürup, Kun Tian, Caterina Morabito, Guo-Lian Ding, Giorgio Fanò, Markus Pfister, Guo-qing Hou, Zhongyan Li, Xizheng Zhang, Sunil M. Kurian, Kayte A. Jenkin, Qian Ren, Martin J. Schalij, Mario Soccio, Ute Neugebauer, Manuela Zanetti, Mario Zoratti, Dachuan Lei, Soban Umar, Fabian Schäfer, He-Feng Huang, Jessica Pietsch, Yanqiong Zhou, Lu Liu, Khadega Hassan, Ildikò Szabò, Simone Guarnieri, Laura K. Schenk, Xi-Jing Chen, Dong-yang Huang, Chun Guo, Qiuxia Lin, Enrico Teardo, Bin Chen, Yicun Chen, Michael Karus, Franco Lucchina, Viatcheslav Nesterov, Fengxia Ma, Nikolaus Blin, Andreas Faissner, Yanmei Zhang, Shanta J. Persaud, Andreas Bress, Marta Nowik, Bert Bosche, Mentor Sopjani, Beate Illek, Li Zhang, Shi-xin Du, Peter Riess, Annalisa Mira, Kristine Bentz, Hanne Sørup Tastesen, Qing-Jiang Chen, Michael Föller, Zhenwei Pan, Zhibo Han, Yanjie Lu, Ximena Terra, Paola Bianciardi, Peter M. Jones, Caihong Shi, Lei Zhang, Marc Maegele, M. A. Jayasri, Fàtima Sabench, Silke Patz, Hans-Jörg Bühring, Giorgio M. Giacometti, Marianna Mokrushina, Maria A. Mariggiò, Xiaohong Dong, Lisa Mastrofrancesco, Christoph Korbmacher, Gamal Badr, Deanne H. Hryciw, Antoine A.F. de Vries, Shefalee K. Bhavsar, Markus M. Rinschen, Guo Cai Huang, Jürgen Hescheler, Xuelian Li, T. Lazar Mathew, Florian Lang, Jens Klokkers, Giovanna Valenti, Björn Friedrich, Jürgen Hoffmann, Hua Liao, Nicole B. Kampik, Ruixin Li, Eberhard Schlatter, Zhao-yong Liu, Yan Zhang, Nguyen Thi Xuan, Le-Xin Wang, Markus Wehland, Jacob Møller, Daniel R. Salomon, Hanan Waly, Altaf Al-Romaiyan, Charlotte Møller, Anna Maria Luna, Kristian Arild Poulsen, Bo Chang, Else K. Hoffmann, Marek Molcanyi, Jinzhi Wang, Daniela Grimm, Michele Samaja, Ibrahim M. Alhazza, Stephanie A. Amiel, Alexei Diakov, Elide Formentin, Cristóbal Richart, Mohamed S. Bakr, Wenfeng Chu, Marianna Ranieri, Horst Fischer, Anna Caretti, Arnoud van der Laarse, Ian Henry Lambert, Hanem S. Abdel-Tawab, Douwe E. Atsma, Yuan Hong, Diwakar Bobbala, Carsten A. Wagner

Publikováno v: Cellular Physiology and Biochemistry. 26:I-VI

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0fcabdb10da42a80769c9281ed8f9eea
https://doi.org/10.1159/000323975

Rare variants in BMP2 and BMP4 found in otosclerosis patients reduce smad signaling

Autor: Megan Ealy, Richard J.H. Smith, Guy Van Camp, Markus Pfister, Andreas Bress, Nicole C. Meyer, Isabelle Schrauwen, Johnny Cruz Corchado

Publikováno v: Otology and neurotology

Hypothesis Genetic variation in BMP2 and BMP4 found in otosclerosis patients result in altered Smad signaling. Background Otosclerosis is a common form of adult-onset conductive hearing loss resulting from abnormal bone remodeling of the bony labyrin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff945929328801ffeb118e8b91b4b7b2
https://hdl.handle.net/10067/1158540151162165141