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Mutation detection

Identity by Descent Mapping of Founder Mutations in Cancer Using High-Resolution Tumor SNP Data

Eric Letouzé, Aliou Sow, Fabien Petel, Roberto Rosati, Bonald C. Figueiredo, Nelly Burnichon, Anne-Paule Gimenez-Roqueplo, Enzo Lalli, Aurélien de Reyniès

published 02 May 2012

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Allele Specific Locked Nucleic Acid Quantitative PCR (ASLNAqPCR): An Accurate and Cost-Effective Assay to Diagnose and Quantify KRAS and BRAF Mutation

Luca Morandi, Dario de Biase, Michela Visani, Valentina Cesari, Giovanna De Maglio, Stefano Pizzolitto, Annalisa Pession, Giovanni Tallini

published 30 Apr 2012

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Amyloid-Beta (Aβ) D7H Mutation Increases Oligomeric Aβ42 and Alters Properties of Aβ-Zinc/Copper Assemblies

Wei-Ting Chen, Chen-Jee Hong, Ya-Tzu Lin, Wen-Han Chang, He-Ting Huang, Jhih-Ying Liao, Yu-Jen Chang, Yi-Fang Hsieh, Chih-Ya Cheng, Hsiu-Chih Liu, Yun-Ru Chen, Irene H. Cheng

published 30 Apr 2012

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Genetic Background Analysis of Protein C Deficiency Demonstrates a Recurrent Mutation Associated with Venous Thrombosis in Chinese Population

Liang Tang, Tao Guo, Rui Yang, Heng Mei, Huafang Wang, Xuan Lu, Jianming Yu, Qingyun Wang, Yu Hu

published 24 Apr 2012

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Analysis of Tp53 Codon 72 Polymorphisms, Tp53 Mutations, and HPV Infection in Cutaneous Squamous Cell Carcinomas

Keith R. Loeb, Maryam M. Asgari, Stephen E. Hawes, Qinghua Feng, Joshua E. Stern, Mingjun Jiang, Zsolt B. Argenyi, Ethel-Michele de Villiers, Nancy B. Kiviat

published 24 Apr 2012

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Transmission and Selection of Macrolide Resistant Mycoplasma genitalium Infections Detected by Rapid High Resolution Melt Analysis

Jimmy Twin, Jorgen S. Jensen, Catriona S. Bradshaw, Suzanne M. Garland, Christopher K. Fairley, Lim Yi Min, Sepehr N. Tabrizi

published 20 Apr 2012

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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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