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Mutation detection

Measuring Enzymatic HIV-1 Susceptibility to Two Reverse Transcriptase Inhibitors as a Rapid and Simple Approach to HIV-1 Drug-Resistance Testing

Dieter Hoffmann, Albert D. Garcia, P. Richard Harrigan, Ian C. D. Johnston, Tadashi Nakasone, J. Gerardo García-Lerma, Walid Heneine

published 20 Jul 2011

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Newborn Genetic Screening for Hearing Impairment: A Preliminary Study at a Tertiary Center

Chen-Chi Wu, Chia-Cheng Hung, Shin-Yu Lin, Wu-Shiun Hsieh, Po-Nien Tsao, Chien-Nan Lee, Yi-Ning Su, Chuan-Jen Hsu

published 19 Jul 2011

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Reappearance of Minority K103N HIV-1 Variants after Interruption of ART Initiated during Primary HIV-1 Infection

Karin J. Metzner, Christine Leemann, Francesca Di Giallonardo, Christina Grube, Alexandra U. Scherrer, Dominique Braun, Herbert Kuster, Rainer Weber, Huldrych F. Guenthard

published 06 Jul 2011

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Minor HIV-1 Variants with the K103N Resistance Mutation during Intermittent Efavirenz-Containing Antiretroviral Therapy and Virological Failure

Pierre Delobel, Adrien Saliou, Florence Nicot, Martine Dubois, Stéphanie Trancart, Philippe Tangre, Jean-Pierre Aboulker, Anne-Marie Taburet, Jean-Michel Molina, Patrice Massip, Bruno Marchou, Jacques Izopet, ANRS 106-Window Study Team

published 27 Jun 2011

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Rapid Detection of the H275Y Oseltamivir Resistance Mutation in Influenza A/H1N1 2009 by Single Base Pair RT-PCR and High-Resolution Melting

Steven Y. C. Tong, Farshid Dakh, Aeron C. Hurt, Yi-Mo Deng, Kevin Freeman, Peter K. Fagan, Ian G. Barr, Philip M. Giffard

published 24 Jun 2011

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Emergence and Persistence of Minor Drug-Resistant HIV-1 Variants in Ugandan Women after Nevirapine Single-Dose Prophylaxis

Andrea Hauser, Kizito Mugenyi, Rose Kabasinguzi, Claudia Kuecherer, Gundel Harms, Andrea Kunz

published 31 May 2011

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Characterization of Novel StAR (Steroidogenic Acute Regulatory Protein) Mutations Causing Non-Classic Lipoid Adrenal Hyperplasia

Christa E. Flück, Amit V. Pandey, Bernhard Dick, Núria Camats, Mónica Fernández-Cancio, María Clemente, Miquel Gussinyé, Antonio Carrascosa, Primus E. Mullis, Laura Audi

published 27 May 2011

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Added Value of Deep Sequencing Relative to Population Sequencing in Heavily Pre-Treated HIV-1-Infected Subjects

Francisco M. Codoñer, Christian Pou, Alexander Thielen, Federico García, Rafael Delgado, David Dalmau, Miguel Álvarez-Tejado, Lidia Ruiz, Bonaventura Clotet, Roger Paredes

published 13 May 2011

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Detection of Variants in 15 Genes in 87 Unrelated Chinese Patients with Leber Congenital Amaurosis

Lin Li, Xueshan Xiao, Shiqiang Li, Xiaoyun Jia, Panfeng Wang, Xiangming Guo, Xiaodong Jiao, Qingjiong Zhang, J. Fielding Hejtmancik

published 13 May 2011

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Benchmarking of Mutation Diagnostics in Clinical Lung Cancer Specimens

Silvia Querings, Janine Altmüller, Sascha Ansén, Thomas Zander, Danila Seidel, Franziska Gabler, Martin Peifer, Eva Markert, Kathryn Stemshorn, Bernd Timmermann, Beate Saal, Stefan Klose, Karen Ernestus, Matthias Scheffler, Walburga Engel-Riedel, Erich Stoelben, Elisabeth Brambilla, Jürgen Wolf, Peter Nürnberg, Roman K. Thomas

published 05 May 2011

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Multiplex Fluorescence Melting Curve Analysis for Mutation Detection with Dual-Labeled, Self-Quenched Probes

Qiuying Huang, Zanzan Liu, Yiqun Liao, Xiaoyun Chen, Yi Zhang, Qingge Li

published 28 Apr 2011

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Evolutionary Analyses of Entire Genomes Do Not Support the Association of mtDNA Mutations with Ras/MAPK Pathway Syndromes

Alberto Gómez-Carballa, María Cerezo, Emilia Balboa, Claudia Heredia, Lidia Castro-Feijóo, Itxaso Rica, Jesús Barreiro, Jesús Eirís, Paloma Cabanas, Isabel Martínez-Soto, Joaquín Fernández-Toral, Manuel Castro-Gago, Manuel Pombo, Ángel Carracedo, Francisco Barros, Antonio Salas

published 19 Apr 2011

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A Systematic Study of Gene Mutations in Urothelial Carcinoma; Inactivating Mutations in TSC2 and PIK3R1

Gottfrid Sjödahl, Martin Lauss, Sigurdur Gudjonsson, Fredrik Liedberg, Christer Halldén, Gunilla Chebil, Wiking Månsson, Mattias Höglund, David Lindgren

published 14 Apr 2011

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