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Mutation detection

Mutation Analysis of 16 Mucolipidosis II and III Alpha/Beta Chinese Children Revealed Genotype-Phenotype Correlations

Shuang Liu, Weimin Zhang, Huiping Shi, Fengxia Yao, Min Wei, Zhengqing Qiu

published 23 Sep 2016

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Molecular Genetic Characterization of Individual Cancer Cells Isolated via Single-Cell Printing

Julian Riba, Nathalie Renz, Christoph Niemöller, Sabine Bleul, Dietmar Pfeifer, Juliane M. Stosch, Klaus H. Metzeler, Björn Hackanson, Michael Lübbert, Justus Duyster, Peter Koltay, Roland Zengerle, Rainer Claus, Stefan Zimmermann, Heiko Becker

published 22 Sep 2016

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Optimized Multiplex Detection of 7 KRAS Mutations by Taqman Allele-Specific qPCR

Andrea Orue, Manuel Rieber

published 15 Sep 2016

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Targeted Next-Generation Sequencing of Plasma DNA from Cancer Patients: Factors Influencing Consistency with Tumour DNA and Prospective Investigation of Its Utility for Diagnosis

Pamela J. Kaisaki, Anthony Cutts, Niko Popitsch, Carme Camps, Melissa M. Pentony, Gareth Wilson, Suzanne Page, Kulvinder Kaur, Dimitris Vavoulis, Shirley Henderson, Avinash Gupta, Mark R. Middleton, Ioannis Karydis, Denis C. Talbot, Anna Schuh, Jenny C. Taylor

published 14 Sep 2016

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Steroidogenic Acute Regulatory Protein Overexpression Correlates with Protein Kinase A Activation in Adrenocortical Adenoma

Weiwei Zhou, Luming Wu, Jing Xie, Tingwei Su, Lei Jiang, Yiran Jiang, Yanan Cao, Jianmin Liu, Guang Ning, Weiqing Wang

published 08 Sep 2016

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Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome

Samia Abdi, Amel Bahloul, Asma Behlouli, Jean-Pierre Hardelin, Mohamed Makrelouf, Kamel Boudjelida, Malek Louha, Ahmed Cheknene, Rachid Belouni, Yahia Rous, Zahida Merad, Djamel Selmane, Mokhtar Hasbelaoui, Crystel Bonnet, Akila Zenati, Christine Petit

published 01 Sep 2016

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Establishment of a Flexible Real-Time Polymerase Chain Reaction-Based Platform for Detecting Prevalent Deafness Mutations Associated with Variable Degree of Sensorineural Hearing Loss in Koreans

Kyu-Hee Han, Ah Reum Kim, Min Young Kim, Soyeon Ahn, Seung-Ha Oh, Ju Hun Song, Byung Yoon Choi

published 01 Sep 2016

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A Novel SCN5A Mutation Associated with Drug Induced Brugada Type ECG

Isik Turker, Takeru Makiyama, Matteo Vatta, Hideki Itoh, Takeshi Ueyama, Akihiko Shimizu, Tomohiko Ai, Minoru Horie

published 25 Aug 2016

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Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease

Xiaoxia Pan, Yan Ouyang, Zhaohui Wang, Hong Ren, Pingyan Shen, Weiming Wang, Yaowen Xu, Liyan Ni, Xialian Yu, Xiaonong Chen, Wen Zhang, Li Yang, Xiao Li, Jing Xu, Nan Chen

published 25 Aug 2016

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Analysis of Founder Mutations in Rare Tumors Associated With Hereditary Breast/Ovarian Cancer Reveals a Novel Association of BRCA2 Mutations with Ampulla of Vater Carcinomas

Pedro Pinto, Ana Peixoto, Catarina Santos, Patrícia Rocha, Carla Pinto, Manuela Pinheiro, Luís Leça, Ana Teresa Martins, Verónica Ferreira, Carla Bartosch, Manuel R. Teixeira

published 17 Aug 2016

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Precise Detection of IDH1/2 and BRAF Hotspot Mutations in Clinical Glioma Tissues by a Differential Calculus Analysis of High-Resolution Melting Data

Ryusuke Hatae, Nobuhiro Hata, Koji Yoshimoto, Daisuke Kuga, Yojiro Akagi, Hideki Murata, Satoshi O. Suzuki, Masahiro Mizoguchi, Koji Iihara

published 16 Aug 2016

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Whole-Genome Sequencing Analysis of Serially Isolated Multi-Drug and Extensively Drug Resistant Mycobacterium tuberculosis from Thai Patients

Kiatichai Faksri, Jun Hao Tan, Areeya Disratthakit, Eryu Xia, Therdsak Prammananan, Prapat Suriyaphol, Chiea Chuen Khor, Yik-Ying Teo, Rick Twee-Hee Ong, Angkana Chaiprasert

published 12 Aug 2016

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The Emergence of Quinolone Resistant Shigella sonnei, Pondicherry, India

Ankita Das, Mailan Natarajan, Jharna Mandal

published 05 Aug 2016

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