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Mutation detection

Variables that influence BRAF mutation probability: A next-generation sequencing, non-interventional investigation of BRAFV600 mutation status in melanoma

Maria Rita Gaiser, Alexander Skorokhod, Diana Gransheier, Benjamin Weide, Winfried Koch, Birgit Schif, Alexander Enk, Claus Garbe, Jürgen Bauer

published 27 Nov 2017

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Simultaneous introgression of three POLLED mutations into a synthetic breed of Chinese cattle

Shi-Yi Chen, Linhai Liu, Maozhong Fu, Gong-Wei Zhang, Jun Yi, Song-Jia Lai, Wei Wang

published 20 Oct 2017

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Upward trends of acquired drug resistances in Ethiopian HIV-1C isolates: A decade longitudinal study

Andargachew Mulu, Melanie Maier, Uwe Gerd Liebert

published 19 Oct 2017

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High prevalence of HIV-1 transmitted drug-resistance mutations from proviral DNA massively parallel sequencing data of therapy-naïve chronically infected Brazilian blood donors

Rodrigo Pessôa, Sabri S. Sanabani

published 27 Sep 2017

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Germline and somatic mutations in cortical malformations: Molecular defects in Argentinean patients with neuronal migration disorders

Dolores González-Morón, Sebastián Vishnopolska, Damián Consalvo, Nancy Medina, Marcelo Marti, Marta Córdoba, Cecilia Vazquez-Dusefante, Santiago Claverie, Sergio Alejandro Rodríguez-Quiroga, Patricia Vega, Walter Silva, Silvia Kochen, Marcelo Andrés Kauffman

published 27 Sep 2017

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Identification of a novel frameshift mutation in the ILDR1 gene in a UAE family, mutations review and phenotype genotype correlation

Abdelaziz Tlili, Abdullah Fahd Al Mutery, Mona Mahfood, Walaa Kamal Eddine Ahmad Mohamed, Khalid Bajou

published 25 Sep 2017

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Assessment of common somatic mutations of EGFR, KRAS, BRAF, NRAS in pulmonary non-small cell carcinoma using iPLEX^® HS, a new highly sensitive assay for the MassARRAY^® System

Bobbie C. Sutton, Ryan T. Birse, Kevin Maggert, Tammy Ray, Jessica Hobbs, Amobi Ezenekwe, Jason Kazmierczak, Michael Mosko, Joan Kish, Andrew Bullock, Zonggao Shi, M. Sharon Stack, Darryl Irwin

published 19 Sep 2017

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Multi-layered mutation in hedgehog-related genes in Gorlin syndrome may affect the phenotype

Shoko Onodera, Akiko Saito, Daigo Hasegawa, Nana Morita, Katsuhito Watanabe, Takeshi Nomura, Takahiko Shibahara, Shinsuke Ohba, Akira Yamaguchi, Toshifumi Azuma

published 15 Sep 2017

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Identification of a novel GJA3 mutation in a large Chinese family with congenital cataract using targeted exome sequencing

Yihua Yao, Xuedong Zheng, Xianglian Ge, Yanghui Xiu, Liu Zhang, Weifang Fang, Junzhao Zhao, Feng Gu, Yihua Zhu

published 06 Sep 2017

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Clinical utility of circulating cell-free DNA in advanced colorectal cancer

Allan A. Lima Pereira, Maria Pia Morelli, Michael Overman, Bryan Kee, David Fogelman, Eduardo Vilar, Imad Shureiqi, Kanwal Raghav, Cathy Eng, Shanequa Manuel, Shadarra Crosby, Robert A. Wolff, Kimberly Banks, Richard Lanman, AmirAli Talasaz, Scott Kopetz, Van Morris

published 29 Aug 2017

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Processing of OPA1 with a novel N-terminal mutation in patients with autosomal dominant optic atrophy: Escape from nonsense-mediated decay

Aneta Ścieżyńska, Ewelina Ruszkowska, Kamil Szulborski, Katarzyna Rydz, Joanna Wierzbowska, Joanna Kosińska, Marek Rękas, Rafał Płoski, Jacek Paweł Szaflik, Monika Ołdak

published 25 Aug 2017

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Clinical validation of a highly sensitive assay to detect EGFR mutations in plasma cell-free DNA from patients with advanced lung adenocarcinoma

Yuping Li, Hanyan Xu, Shanshan Su, Junru Ye, Junjie Chen, Xuru Jin, Quan Lin, Dongqing Zhang, Caier Ye, Chengshui Chen

published 22 Aug 2017

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Crystal digital droplet PCR for detection and quantification of circulating EGFR sensitizing and resistance mutations in advanced non-small cell lung cancer

Cécile Jovelet, Jordan Madic, Jordi Remon, Aurélie Honoré, Romain Girard, Etienne Rouleau, Barbara André, Benjamin Besse, Magali Droniou, Ludovic Lacroix

published 22 Aug 2017

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