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Mutation detection

Frequency of D222G and Q223R Hemagglutinin Mutants of Pandemic (H1N1) 2009 Influenza Virus in Japan between 2009 and 2010

Mayo Yasugi, Shota Nakamura, Tomo Daidoji, Norihito Kawashita, Ririn Ramadhany, Cheng-Song Yang, Teruo Yasunaga, Tetsuya Iida, Toshihiro Horii, Kazuyoshi Ikuta, Kazuo Takahashi, Takaaki Nakaya

published 17 Feb 2012

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Virologic Failures on Initial Boosted-PI Regimen Infrequently Possess Low-Level Variants with Major PI Resistance Mutations by Ultra-Deep Sequencing

Max Lataillade, Jennifer Chiarella, Rong Yang, Michelle DeGrosky, Jonathan Uy, Daniel Seekins, Birgitte Simen, Elizabeth St. John, Elizabeth Moreno, Michael Kozal

published 15 Feb 2012

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Statistical Guidance for Experimental Design and Data Analysis of Mutation Detection in Rare Monogenic Mendelian Diseases by Exome Sequencing

Degui Zhi, Rui Chen

published 10 Feb 2012

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Rare Variants in APP, PSEN1 and PSEN2 Increase Risk for AD in Late-Onset Alzheimer's Disease Families

Carlos Cruchaga, Sumitra Chakraverty, Kevin Mayo, Francesco L. M. Vallania, Robi D. Mitra, Kelley Faber, Jennifer Williamson, Tom Bird, Ramon Diaz-Arrastia, Tatiana M. Foroud, Bradley F. Boeve, Neill R. Graff-Radford, Pamela St. Jean, Michael Lawson, Margaret G. Ehm, Richard Mayeux, Alison M. Goate, for the NIA-LOAD/NCRAD Family Study Consortium

published 01 Feb 2012

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Intra- and Inter-Tumor Heterogeneity of BRAFV600EMutations in Primary and Metastatic Melanoma

Molly Yancovitz, Adam Litterman, Joanne Yoon, Elise Ng, Richard L. Shapiro, Russell S. Berman, Anna C. Pavlick, Farbod Darvishian, Paul Christos, Madhu Mazumdar, Iman Osman, David Polsky

published 03 Jan 2012

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Pre-Existing Isoniazid Resistance, but Not the Genotype of Mycobacterium Tuberculosis Drives Rifampicin Resistance Codon Preference in Vitro

Indra Bergval, Brian Kwok, Anja Schuitema, Kristin Kremer, Dick van Soolingen, Paul Klatser, Richard Anthony

published 03 Jan 2012

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Extremely High Tp53 Mutation Load in Esophageal Squamous Cell Carcinoma in Golestan Province, Iran

Behnoush Abedi-Ardekani, Farin Kamangar, Masoud Sotoudeh, Stephanie Villar, Farhad Islami, Karim Aghcheli, Dariush Nasrollahzadeh, Noushin Taghavi, Sanford M. Dawsey, Christian C. Abnet, Stephen M. Hewitt, Saman Fahimi, Farrokh Saidi, Paul Brennan, Paolo Boffetta, Reza Malekzadeh, Pierre Hainaut

published 27 Dec 2011

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Dynamics of Resistance Development to Imatinib under Increasing Selection Pressure: A Combination of Mathematical Models and In Vitro Data

Benjamin Werner, David Lutz, Tim H. Brümmendorf, Arne Traulsen, Stefan Balabanov

published 22 Dec 2011

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KRAS Mutations Testing in Colorectal Carcinoma Patients in Italy: From Guidelines to External Quality Assessment

Nicola Normanno, Carmine Pinto, Francesca Castiglione, Alberto Bardelli, Marcello Gambacorta, Gerardo Botti, Oscar Nappi, Salvatore Siena, Fortunato Ciardiello, GianLuigi Taddei, Antonio Marchetti

published 21 Dec 2011

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The Mutational Spectrum in a Cohort of Charcot-Marie-Tooth Disease Type 2 among the Han Chinese in Taiwan

Kon-Ping Lin, Bing-Wen Soong, Chih-Chao Yang, Li-Wen Huang, Ming-Hong Chang, I-Hui Lee, Antony Antonellis, Yi-Chung Lee

published 19 Dec 2011

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Prevalence and Impact of Minority Variant Drug Resistance Mutations in Primary HIV-1 Infection

Joanne D. Stekler, Giovanina M. Ellis, Jacquelyn Carlsson, Braiden Eilers, Sarah Holte, Janine Maenza, Claire E. Stevens, Ann C. Collier, Lisa M. Frenkel

published 16 Dec 2011

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EZH2 Codon 641 Mutations are Common in BCL2-Rearranged Germinal Center B Cell Lymphomas

Russell J. H. Ryan, Mai Nitta, Darrell Borger, Lawrence R. Zukerberg, Judith A. Ferry, Nancy Lee Harris, A. John Iafrate, Bradley E. Bernstein, Aliyah R. Sohani, Long Phi Le

published 14 Dec 2011

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Is High Resolution Melting Analysis (HRMA) Accurate for Detection of Human Disease-Associated Mutations? A Meta Analysis

Bing-Sheng Li, Xin-Ying Wang, Feng-Li Ma, Bo Jiang, Xiao-Xiao Song, An-Gao Xu

published 14 Dec 2011

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