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Direct sequencing

A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice

Rocio Sanchez-Alcudia, Maria Garcia-Hoyos, Miguel Angel Lopez-Martinez, Noelia Sanchez-Bolivar, Olga Zurita, Ascension Gimenez, Cristina Villaverde, Luciana Rodrigues-Jacy da Silva, Marta Corton, Raquel Perez-Carro, Simona Torriano, Vasiliki Kalatzis, Carlo Rivolta, Almudena Avila-Fernandez, Isabel Lorda, Maria J. Trujillo-Tiebas, Blanca Garcia-Sandoval, Maria Isabel Lopez-Molina, Fiona Blanco-Kelly, Rosa Riveiro-Alvarez, Carmen Ayuso

published 12 Apr 2016

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Novel Methodology for Rapid Detection of KRAS Mutation Using PNA-LNA Mediated Loop-Mediated Isothermal Amplification

Masahiro Itonaga, Ibu Matsuzaki, Kenji Warigaya, Takaaki Tamura, Yuki Shimizu, Masakazu Fujimoto, Fumiyoshi Kojima, Masao Ichinose, Shin-ichi Murata

published 21 Mar 2016

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Haplotypes of the D-Amino Acid Oxidase Gene Are Significantly Associated with Schizophrenia and Its Neurocognitive Deficits

Yu-Li Liu, Sheng-Chang Wang, Hai-Gwo Hwu, Cathy Shen-Jang Fann, Ueng-Cheng Yang, Wei-Chih Yang, Pei-Chun Hsu, Chien-Ching Chang, Chun-Chiang Wen, Jyy-Jih Tsai-Wu, Tzung-Jeng Hwang, Ming H. Hsieh, Chen-Chung Liu, Yi-Ling Chien, Chiu-Ping Fang, Stephen V. Faraone, Ming T. Tsuang, Wei J. Chen, Chih-Min Liu

published 17 Mar 2016

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Comparison of the Cobas 4800 HPV and HPV 9G DNA Chip Tests for Detection of High-Risk Human Papillomavirus in Cervical Specimens of Women with Consecutive Positive HPV Tests But Negative Pap Smears

Sun-Young Jun, Eun Su Park, Jiyoung Kim, Jun Kang, Jae Jun Lee, Yoonjin Bae, Sang-Il Kim, Lee-So Maeng

published 15 Oct 2015

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Molecular Profiling of a Rare Rosette-Forming Glioneuronal Tumor Arising in the Spinal Cord

Lucas Tadeu Bidinotto, Cristovam Scapulatempo-Neto, Alan Mackay, Gisele Caravina de Almeida, Bernd Walter Scheithauer, Gustavo Noriz Berardinelli, Raul Torrieri, Carlos Afonso Clara, Leonir Terezinha Feltrin, Marta Viana-Pereira, Marileila Varella-Garcia, Chris Jones, Rui Manuel Reis

published 15 Sep 2015

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Resistance-Associated NS5A Variants of Hepatitis C Virus Are Susceptible to Interferon-Based Therapy

Jun Itakura, Masayuki Kurosaki, Mayu Higuchi, Hitomi Takada, Natsuko Nakakuki, Yoshie Itakura, Nobuharu Tamaki, Yutaka Yasui, Shoko Suzuki, Kaoru Tsuchiya, Hiroyuki Nakanishi, Yuka Takahashi, Shinya Maekawa, Nobuyuki Enomoto, Namiki Izumi

published 14 Sep 2015

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Rapid, Sensitive, and Accurate Evaluation of Drug Resistant Mutant (NS5A-Y93H) Strain Frequency in Genotype 1b HCV by Invader Assay

Satoshi Yoshimi, Hidenori Ochi, Eisuke Murakami, Takuro Uchida, Hiromi Kan, Sakura Akamatsu, C. Nelson Hayes, Hiromi Abe, Daiki Miki, Nobuhiko Hiraga, Michio Imamura, Hiroshi Aikata, Kazuaki Chayama

published 17 Jun 2015

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The Frequency and Clinical Implication of ROS1 and RET Rearrangements in Resected Stage IIIA-N2 Non-Small Cell Lung Cancer Patients

Sha Fu, Ying Liang, Yong-Bin Lin, Fang Wang, Ma-Yan Huang, Zi-Chen Zhang, Jing Wang, Wen-Jian Cen, Jian-Yong Shao

published 23 Apr 2015

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An Integrative Analysis of PIK3CA Mutation, PTEN, and INPP4B Expression in Terms of Trastuzumab Efficacy in HER2-Positive Breast Cancer

Aiko Sueta, Yutaka Yamamoto, Mutsuko Yamamoto-Ibusuki, Mitsuhiro Hayashi, Takashi Takeshita, Satoko Yamamoto, Hirotaka Iwase

published 26 Dec 2014

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Nationwide Experience of Treatment with Protease Inhibitors in Chronic Hepatitis C Patients in Denmark: Identification of Viral Resistance Mutations

Christina Sølund, Henrik Krarup, Santseharay Ramirez, Peter Thielsen, Birgit T. Røge, Suzanne Lunding, Toke S. Barfod, Lone G. Madsen, Britta Tarp, Peer B. Christensen, Jan Gerstoft, Alex L. Laursen, Jens Bukh, Nina Weis, The DANHEP group

published 01 Dec 2014

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A Novel Simple Assay System to Quantify the Percent HCV-RNA Levels of NS5A Y93H Mutant Strains and Y93 Wild-Type Strains Relative to the Total HCV-RNA Levels to Determine the Indication for Antiviral Therapy with NS5A Inhibitors

Yoshihito Uchida, Jun-ichi Kouyama, Kayoko Naiki, Satoshi Mochida

published 14 Nov 2014

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Minority Drug-Resistant HIV-1 Variants in Treatment Naïve East-African and Caucasian Patients Detected by Allele-Specific Real-Time PCR

Halime Ekici, Wondwossen Amogne, Getachew Aderaye, Lars Lindquist, Anders Sönnerborg, Samir Abdurahman

published 21 Oct 2014

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Exome Sequencing Is an Efficient Tool for Variant Late-Infantile Neuronal Ceroid Lipofuscinosis Molecular Diagnosis

Liliana Catherine Patiño, Rajani Battu, Oscar Ortega-Recalde, Jeyabalan Nallathambi, Venkata Ramana Anandula, Umashankar Renukaradhya, Paul Laissue

published 15 Oct 2014

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