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Mutation detection

Simultaneous Detection of Both Single Nucleotide Variations and Copy Number Alterations by Next-Generation Sequencing in Gorlin Syndrome

Kei-ichi Morita, Takuya Naruto, Kousuke Tanimoto, Chisato Yasukawa, Yu Oikawa, Kiyoshi Masuda, Issei Imoto, Johji Inazawa, Ken Omura, Hiroyuki Harada

published 06 Nov 2015

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Analysis of PIK3CA Mutations and Activation Pathways in Triple Negative Breast Cancer

Paolo Cossu-Rocca, Sandra Orrù, Maria Rosaria Muroni, Francesca Sanges, Giovanni Sotgiu, Sara Ena, Giovanna Pira, Luciano Murgia, Alessandra Manca, Maria Gabriela Uras, Maria Giuseppina Sarobba, Silvana Urru, Maria Rosaria De Miglio

published 05 Nov 2015

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Hereditary Angioedema Due to C1 Inhibitor Deficiency in Serbia: Two Novel Mutations and Evidence of Genotype-Phenotype Association

Slađana Andrejević, Peter Korošec, Mira Šilar, Mitja Košnik, Radovan Mijanović, Branka Bonači-Nikolić, Matija Rijavec

published 04 Nov 2015

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Concurrent Mutations in ATM and Genes Associated with Common γ Chain Signaling in Peripheral T Cell Lymphoma

Haley M. Simpson, Rashid Z. Khan, Chang Song, Deva Sharma, Kavitha Sadashivaiah, Aki Furusawa, Xinyue Liu, Sushma Nagaraj, Naomi Sengamalay, Lisa Sadzewicz, Luke J. Tallon, Qing C. Chen, Ferenc Livak, Aaron P. Rapoport, Amy Kimball, Arnob Banerjee

published 04 Nov 2015

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Calreticulin Mutations in Myeloproliferative Neoplasms: Comparison of Three Diagnostic Methods

Ji-Hye Park, Margaux Sevin, Selim Ramla, Aurélie Truffot, Tiffany Verrier, Dominique Bouchot, Martine Courtois, Mathilde Bas, Sonia Benali, François Bailly, Bernardine Favre, Julien Guy, Laurent Martin, Marc Maynadié, Serge Carillo, François Girodon

published 26 Oct 2015

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Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing

Liping Yang, Hui Cui, Xiaobei Yin, Hongliang Dou, Lin Zhao, Ningning Chen, Jinlu Zhang, Huirong Zhang, Genlin Li, Zhizhong Ma

published 23 Oct 2015

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Comparison of 454 Ultra-Deep Sequencing and Allele-Specific Real-Time PCR with Regard to the Detection of Emerging Drug-Resistant Minor HIV-1 Variants after Antiretroviral Prophylaxis for Vertical Transmission

Andrea Hauser, Claudia Kuecherer, Andrea Kunz, Piotr Wojtek Dabrowski, Aleksandar Radonić, Andreas Nitsche, Stefanie Theuring, Norbert Bannert, Julius Sewangi, Paulina Mbezi, Festo Dugange, Gundel Harms, Karolin Meixenberger

published 15 Oct 2015

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Significance of PIK3CA Mutations in Patients with Early Breast Cancer Treated with Adjuvant Chemotherapy: A Hellenic Cooperative Oncology Group (HeCOG) Study

George Papaxoinis, Vassiliki Kotoula, Zoi Alexopoulou, Konstantine T. Kalogeras, Flora Zagouri, Eleni Timotheadou, Helen Gogas, George Pentheroudakis, Christos Christodoulou, Angelos Koutras, Dimitrios Bafaloukos, Gerasimos Aravantinos, Pavlos Papakostas, Elpida Charalambous, Kyriaki Papadopoulou, Ioannis Varthalitis, Ioannis Efstratiou, Thomas Zaramboukas, Helen Patsea, Chrisoula D. Scopa, Maria Skondra, Paris Kosmidis, Dimitrios Pectasides, George Fountzilas

published 09 Oct 2015

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Targeted Next-Generation Sequencing Revealed Novel Mutations in Chinese Ataxia Telangiectasia Patients: A Precision Medicine Perspective

Zhao Chen, Wei Ye, Zhe Long, Dongxue Ding, Huirong Peng, Xuan Hou, Rong Qiu, Kun Xia, Beisha Tang, Hong Jiang

published 06 Oct 2015

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Antimicrobial Resistance and Molecular Investigation of H₂S-Negative Salmonella enterica subsp. enterica serovar Choleraesuis Isolates in China

Jing Xie, Shengjie Yi, Jiangong Zhu, Peng Li, Beibei Liang, Hao Li, Xiaoxia Yang, Ligui Wang, Rongzhang Hao, Leili Jia, Zhihao Wu, Shaofu Qiu, Hongbin Song

published 02 Oct 2015

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Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese

Lee-Moay Lim, Xuan Zhao, Mei-Chyn Chao, Jer-Ming Chang, Wei-Chiao Chang, Hung-Ying Kao, Daw-Yang Hwang, Hung-Chun Chen

published 30 Sep 2015

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Efficient Genotyping of KRAS Mutant Non-Small Cell Lung Cancer Using a Multiplexed Droplet Digital PCR Approach

Alexandra Pender, Isaac Garcia-Murillas, Sareena Rana, Rosalind J. Cutts, Gavin Kelly, Kerry Fenwick, Iwanka Kozarewa, David Gonzalez de Castro, Jaishree Bhosle, Mary O’Brien, Nicholas C. Turner, Sanjay Popat, Julian Downward

published 28 Sep 2015

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Frequencies, Laboratory Features, and Granulocyte Activation in Chinese Patients with CALR-Mutated Myeloproliferative Neoplasms

Haixiu Guo, Xiuhua Chen, Ruiyuan Tian, Jianmei Chang, Jianlan Li, Yanhong Tan, Zhifang Xu, Fanggang Ren, Junxia Zhao, Jie Pan, Na Zhang, Xiaojuan Wang, Jianxia He, Wanfang Yang, Hongwei Wang

published 16 Sep 2015

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