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Mutation detection

High Accuracy Mutation Detection in Leukemia on a Selected Panel of Cancer Genes

Zeynep Kalender Atak, Kim De Keersmaecker, Valentina Gianfelici, Ellen Geerdens, Roel Vandepoel, Daphnie Pauwels, Michaël Porcu, Idoya Lahortiga, Vanessa Brys, Willy G. Dirks, Hilmar Quentmeier, Jacqueline Cloos, Harry Cuppens, Anne Uyttebroeck, Peter Vandenberghe, Jan Cools, Stein Aerts

published 04 Jun 2012

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Clinical and Functional Characterization of a Patient Carrying a Compound Heterozygous Pericentrin Mutation and a Heterozygous IGF1 Receptor Mutation

Eva Müller, Desiree Dunstheimer, Jürgen Klammt, Daniela Friebe, Wieland Kiess, Jürgen Kratzsch, Tassilo Kruis, Sandy Laue, Roland Pfäffle, Tillmann Wallborn, Peter H. Heidemann

published 31 May 2012

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BRCA2 Mutations and Triple-Negative Breast Cancer

Peter Meyer, Katharina Landgraf, Bernhard Högel, Wolfgang Eiermann, Beyhan Ataseven

published 30 May 2012

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Improved Somatic Mutagenesis in Zebrafish Using Transcription Activator-Like Effector Nucleases (TALENs)

Finola E. Moore, Deepak Reyon, Jeffry D. Sander, Sarah A. Martinez, Jessica S. Blackburn, Cyd Khayter, Cherie L. Ramirez, J. Keith Joung, David M. Langenau

published 24 May 2012

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A Novel Mutation in LEPRE1 That Eliminates Only the KDEL ER- Retrieval Sequence Causes Non-Lethal Osteogenesis Imperfecta

Masaki Takagi, Tomohiro Ishii, Aileen M. Barnes, MaryAnn Weis, Naoko Amano, Mamoru Tanaka, Ryuji Fukuzawa, Gen Nishimura, David R. Eyre, Joan C. Marini, Tomonobu Hasegawa

published 15 May 2012

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KRAS, BRAF and PIK3CA Mutations and the Loss of PTEN Expression in Chinese Patients with Colorectal Cancer

Chen Mao, Junhua Zhou, Zuyao Yang, Yafang Huang, Xinyin Wu, Hong Shen, Jinling Tang, Qing Chen

published 07 May 2012

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Myocardial Structural Alteration and Systolic Dysfunction in Preclinical Hypertrophic Cardiomyopathy Mutation Carriers

Kai Hang Yiu, Douwe E. Atsma, Victoria Delgado, Arnold C. T. Ng, Tomasz G. Witkowski, See Hooi Ewe, Dominique Auger, Eduard R. Holman, Anneke M. van Mil, Martijn H. Breuning, Hung Fat Tse, Jeroen J. Bax, Martin J. Schalij, Nina Ajmone Marsan

published 04 May 2012

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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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