Diagnostics

  • Prenatal clinical manifestations in individuals with COL4A1/2 variants
    Toshiyuki Itai, Satoko Miyatake, Masataka Taguri, Fumihito Nozaki, Masayasu Ohta, Hitoshi Osaka, Masafumi Morimoto, Tomoko Tandou, Fumikatsu Nohara, Yuichi Takami, Fumitaka Yoshioka, Shoko Shimokawa, Jiu Okuno-Yuguchi, Mitsuo Motobayashi, Yuko Takei, Tetsuhiro Fukuyama, Satoko Kumada, Yohane Miyata, Chikako Ogawa, Yuki Maki, Noriko Togashi, Teruyuki Ishikura, Makoto Kinoshita, Yusuke Mitani, Yonehiro Kanemura, Tsuyoshi Omi, Naoki Ando, Ayako Hattori, Shinji Saitoh, Yukihiro Kitai, Satori Hirai, Hiroshi Arai, Fumihiko Ishida, Hidetoshi Taniguchi, Yasuji Kitabatake, Keiichi Ozono, Shin Nabatame, Robert Smigiel, Mitsuhiro Kato, Koichi Tanda, Yoshihiko Saito, Akihiko Ishiyama, Yushi Noguchi, Mazumi Miura, Takaaki Nakano, Keiko Hirano, Ryoko Honda, Ichiro Kuki, Jun-ichi Takanashi, Akihito Takeuchi, Tatsuya Fukasawa, Chizuru Seiwa, Atsuko Harada, Yusuke Yachi, Hiroyuki Higashiyama, Hiroshi Terashima, Tadayuki Kumagai, Satoshi Hada, Yoshiichi Abe, Etsuko Miyagi, Yuri Uchiyama, Atsushi Fujita, Eri Imagawa, Yoshiteru Azuma, Kohei Hamanaka, Eriko Koshimizu, Satomi Mitsuhashi, Takeshi Mizuguchi, Atsushi Takata, Noriko Miyake, Yoshinori Tsurusaki, Hiroshi Doi, Mitsuko Nakashima, Hirotomo Saitsu, Naomichi Matsumoto
  • Retinal nerve fibre layer thickness associates with phenylketonuria control and cognition
    Jan Krzysztof Nowak, Łukasz Kałużny, Wojciech Suda, Anna Bukowska-Posadzy, Alex Adams, Ireneusz Grulkowski, Jarosław Kocięcki, Jarosław Walkowiak
  • Improved molecular detection of mosaicism in Beckwith-Wiedemann Syndrome
    Samuel W Baker, Kelly A Duffy, Jennifer Richards-Yutz, Matthew A Deardorff, Jennifer M Kalish, Arupa Ganguly
  • Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS)
    Sen Zhao, Yuanqiang Zhang, Weisheng Chen, Weiyu Li, Shengru Wang, Lianlei Wang, Yanxue Zhao, Mao Lin, Yongyu Ye, Jiachen Lin, Yu Zheng, Jiaqi Liu, Hengqiang Zhao, Zihui Yan, Yongxin Yang, Yingzhao Huang, Guanfeng Lin, Zefu Chen, Zhen Zhang, Sen Liu, Lichao Jin, Zhaoyang Wang, Jingdan Chen, Yuchen Niu, Xiaoxin Li, Yong Wu, Yipeng Wang, Renqian Du, Na Gao, Hong Zhao, Ying Yang, Ying Liu, Ye Tian, Wenli Li, Yu Zhao, Jia Liu, Bin Yu, Na Zhang, Keyi Yu, Xu Yang, Shugang Li, Yuan Xu, Jianhua Hu, Zhe Liu, Jianxiong Shen, Shuyang Zhang, Jianzhong Su, Anas M Khanshour, Yared H Kidane, Brandon Ramo, Jonathan J Rios, Pengfei Liu, V. Reid Sutton, Jennifer E Posey, Zhihong Wu, Guixing Qiu, Carol A Wise, Feng Zhang, James R Lupski, Jianguo Zhang, Nan Wu
  • Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients
    Michael Volodarsky, Jennifer Kerkhof, Alan Stuart, Michael Levy, Lauren I Brady, Mark Tarnopolsky, Hanxin Lin, Peter Ainsworth, Bekim Sadikovic
  • Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia
    Claudia Rodríguez-López, Luis M. García-Cárdaba, Alberto Blázquez, Pablo Serrano-Lorenzo, Gerardo Gutiérrez-Gutiérrez, Beatriz San Millán-Tejado, Nuria Muelas, Aurelio Hernández-Laín, Juan J. Vílchez, Eduardo Gutiérrez-Rivas, Joaquín Arenas, Miguel A. Martín, Cristina Domínguez-González
  • Diagnostic exome sequencing in non-acquired focal epilepsies highlights a major role of GATOR1 complex genes
    Martin Krenn, Matias Wagner, Christoph Hotzy, Elisabeth Graf, Sandrina Weber, Theresa Brunet, Bettina Lorenz-Depiereux, Gregor Kasprian, Susanne Aull-Watschinger, Ekaterina Pataraia, Elisabeth Stogmann, Alexander Zimprich, Tim M Strom, Thomas Meitinger, Fritz Zimprich
  • Redefinition of familial intestinal gastric cancer: clinical and genetic perspectives
    Joana Carvalho, Patricia Oliveira, Janine Senz, Celina São José, Samantha Hansford, Sara Pinto Teles, Marta Ferreira, Giovanni Corso, Hugo Pinheiro, Diana Lemos, Valeria Pascale, Franco Roviello, David Huntsman, Carla Oliveira
  • Genetic diagnosis of subfertility: the impact of meiosis and maternal effects
    Alexander Gheldof, Deborah J G Mackay, Ying Cheong, Willem Verpoest
  • Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying MME mutations
    Vincenzo Lupo, Marina Frasquet, Ana Sánchez-Monteagudo, Ana Lara Pelayo-Negro, Tania García-Sobrino, María José Sedano, Julio Pardo, Mercedes Misiego, Jorge García-García, María Jesús Sobrido, María Dolores Martínez-Rubio, María José Chumillas, Juan Jesús Vílchez, Juan Francisco Vázquez-Costa, Carmen Espinós, Teresa Sevilla

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