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Mutation detection

Routine Multiplex Mutational Profiling of Melanomas Enables Enrollment in Genotype-Driven Therapeutic Trials

Christine M. Lovly, Kimberly Brown Dahlman, Laurel E. Fohn, Zengliu Su, Dora Dias-Santagata, Donna J. Hicks, Donald Hucks, Elizabeth Berry, Charles Terry, MarKeesa Duke, Yingjun Su, Tammy Sobolik-Delmaire, Ann Richmond, Mark C. Kelley, Cindy L. Vnencak-Jones, A. John Iafrate, Jeffrey Sosman, William Pao

published 20 Apr 2012

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Mitochondrial Diabetes in Children: Seek and You Will Find It

Cristina Mazzaccara, Dario Iafusco, Rosario Liguori, Maddalena Ferrigno, Alfonso Galderisi, Domenico Vitale, Francesca Simonelli, Paolo Landolfo, Francesco Prisco, Mariorosario Masullo, Lucia Sacchetti

published 19 Apr 2012

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Dynamics of Hepatitis B Virus Quasispecies in Association with Nucleos(t)ide Analogue Treatment Determined by Ultra-Deep Sequencing

Norihiro Nishijima, Hiroyuki Marusawa, Yoshihide Ueda, Ken Takahashi, Akihiro Nasu, Yukio Osaki, Tadayuki Kou, Shujiro Yazumi, Takeshi Fujiwara, Soken Tsuchiya, Kazuharu Shimizu, Shinji Uemoto, Tsutomu Chiba

published 16 Apr 2012

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B-RAF Mutant Alleles Associated with Langerhans Cell Histiocytosis, a Granulomatous Pediatric Disease

Takeshi Satoh, Alexander Smith, Aurelien Sarde, Hui-chun Lu, Sophie Mian, Celine Trouillet, Ghulam Mufti, Jean-Francois Emile, Franca Fraternali, Jean Donadieu, Frederic Geissmann

published 10 Apr 2012

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HIV-1 Phenotypic Reverse Transcriptase Inhibitor Drug Resistance Test Interpretation Is Not Dependent on the Subtype of the Virus Backbone

Michelle Bronze, Kim Steegen, Carole L. Wallis, Hans De Wolf, Maria A. Papathanasopoulos, Margriet Van Houtte, Wendy S. Stevens, Tobias Rinke de Wit, Lieven J. Stuyver, on behalf of the ART-A Consortium

published 09 Apr 2012

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Identification and Functional Characterisation of Novel Glucokinase Mutations Causing Maturity-Onset Diabetes of the Young in Slovakia

Lucia Valentínová, Nicola L. Beer, Juraj Staník, Nicholas D. Tribble, Martijn van de Bunt, Miroslava Hučková, Amy Barrett, Iwar Klimeš, Daniela Gašperíková, Anna L. Gloyn

published 06 Apr 2012

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Mutations, Clinical Findings and Survival Estimates in South American Patients with X-Linked Adrenoleukodystrophy

Fernanda dos Santos Pereira, Ursula Matte, Clarissa Troller Habekost, Raphael Machado de Castilhos, Antonette Souto El Husny, Charles Marques Lourenço, Angela M. Vianna-Morgante, Liane Giuliani, Marcial Francis Galera, Rachel Honjo, Chong Ae Kim, Juan Politei, Carmen Regla Vargas, Laura Bannach Jardim

published 29 Mar 2012

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Evaluation of Genetic Mutations Associated with Mycobacterium tuberculosis Resistance to Amikacin, Kanamycin and Capreomycin: A Systematic Review

Sophia B. Georghiou, Marisa Magana, Richard S. Garfein, Donald G. Catanzaro, Antonino Catanzaro, Timothy C. Rodwell

published 29 Mar 2012

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Sequence Variations of Latent Membrane Protein 2A in Epstein-Barr Virus-Associated Gastric Carcinomas from Guangzhou, Southern China

Jing Han, Jian-ning Chen, Zhi-gang Zhang, Hai-gang Li, Yun-gang Ding, Hong Du, Chun-kui Shao

published 28 Mar 2012

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Mutations in Radial Spoke Head Genes and Ultrastructural Cilia Defects in East-European Cohort of Primary Ciliary Dyskinesia Patients

Ewa Ziętkiewicz, Zuzanna Bukowy-Bieryłło, Katarzyna Voelkel, Barbara Klimek, Hanna Dmeńska, Andrzej Pogorzelski, Anna Sulikowska-Rowińska, Ewa Rutkiewicz, Michał Witt

published 20 Mar 2012

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Virologic Failure of Protease Inhibitor-Based Second-Line Antiretroviral Therapy without Resistance in a Large HIV Treatment Program in South Africa

Julie H. Levison, Catherine Orrell, Sébastien Gallien, Daniel R. Kuritzkes, Naishin Fu, Elena Losina, Kenneth A. Freedberg, Robin Wood

published 13 Mar 2012

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Detection of PIGO-Deficient Cells Using Proaerolysin: A Valuable Tool to Investigate Mechanisms of Mutagenesis in the DT40 Cell System

Jun Nakamura, Husamettin Gul, Xu Tian, Scott J. Bultman, James A. Swenberg

published 12 Mar 2012

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A Highly Sensitive Quantitative Real-Time PCR Assay for Determination of Mutant JAK2 Exon 12 Allele Burden

Lasse Kjær, Maj Westman, Caroline Hasselbalch Riley, Estrid Høgdall, Ole Weis Bjerrum, Hans Hasselbalch

published 05 Mar 2012

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