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Mutation detection

Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome

Alejandro García Castaño, Gustavo Pérez de Nanclares, Leire Madariaga, Mireia Aguirre, Álvaro Madrid, Sara Chocrón, Inmaculada Nadal, Mercedes Navarro, Elena Lucas, Julia Fijo, Mar Espino, Zilac Espitaletta, Víctor García Nieto, David Barajas de Frutos, Reyner Loza, Guillem Pintos, Luis Castaño, RenalTube Group , Gema Ariceta

published 13 Mar 2017

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Screening of deafness-causing DNA variants that are common in patients of European ancestry using a microarray-based approach

Denise Yan, Guangxin Xiang, Xingping Chai, Jie Qing, Haiqiong Shang, Bing Zou, Rahul Mittal, Jun Shen, Richard J. H. Smith, Yao-Shan Fan, Susan H. Blanton, Mustafa Tekin, Cynthia Morton, Wanli Xing, Jing Cheng, Xue Zhong Liu

published 08 Mar 2017

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Postnatal and non-invasive prenatal detection of β-thalassemia mutations based on Taqman genotyping assays

Giulia Breveglieri, Anna Travan, Elisabetta D’Aversa, Lucia Carmela Cosenza, Patrizia Pellegatti, Giovanni Guerra, Roberto Gambari, Monica Borgatti

published 24 Feb 2017

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Revertant mosaicism for family mutations is not observed in BRCA1/2 phenocopies

Jacopo Azzollini, Chiara Pesenti, Luca Ferrari, Laura Fontana, Mariarosaria Calvello, Bernard Peissel, Giorgio Portera, Silvia Tabano, Maria Luisa Carcangiu, Paola Riva, Monica Miozzo, Siranoush Manoukian

published 15 Feb 2017

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Prognostic significance of SETBP1 mutations in myelodysplastic syndromes, chronic myelomonocytic leukemia, and chronic neutrophilic leukemia: A meta-analysis

Li-Hong Shou, Dan Cao, Xiao-Hui Dong, Qiu Fang, Ying Wu, Yan Zhang, Ju-Ping Fei, Bao-Lian Xu

published 03 Feb 2017

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Highly sensitive detection of a HER2 12-base pair duplicated insertion mutation in lung cancer using the Eprobe-PCR method

Yoshiaki Takase, Kengo Usui, Kimihiro Shimizu, Yasumasa Kimura, Tatsuo Ichihara, Takahiro Ohkawa, Jun Atsumi, Yasuaki Enokida, Seshiru Nakazawa, Kai Obayashi, Yoichi Ohtaki, Toshiteru Nagashima, Yasumasa Mitani, Izumi Takeyoshi

published 02 Feb 2017

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No Evidence for Pathogenic Role of UBQLN2 Mutations in Sporadic Amyotrophic Lateral Sclerosis in the Mainland Chinese Population

Xiao Huang, Shen Shen, Dongsheng Fan

published 26 Jan 2017

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Digital PCR Improves Mutation Analysis in Pancreas Fine Needle Aspiration Biopsy Specimens

Shonan Sho, Colin M. Court, Stephen Kim, David R. Braxton, Shuang Hou, V. Raman Muthusamy, Rabindra R. Watson, Alireza Sedarat, Hsian-Rong Tseng, James S. Tomlinson

published 26 Jan 2017

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Superior Multiplexing Capacity of PlexPrimers Enables Sensitive and Specific Detection of SNPs and Clustered Mutations in qPCR

Lit Yeen Tan, Samantha Michelle Walker, Tina Lonergan, Nicole Elizabeth Lima, Alison Velyian Todd, Elisa Mokany

published 23 Jan 2017

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Characterization of the Drug Resistance Profiles of Patients Infected with CRF07_BC Using Phenotypic Assay and Ultra-Deep Pyrosequencing

Szu-Wei Huang, Wei-You Li, Wen-Hung Wang, Yu-Ting Lin, Chih-Hung Chou, Marcelo Chen, Hsien-Da Huang, Yen-Hsu Chen, Po-Liang Lu, Sheng-Fan Wang, Shinichi Oka, Yi-Ming Arthur Chen

published 20 Jan 2017

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Changes in Molecular Characteristics of Mycoplasma pneumoniae in Clinical Specimens from Children in Beijing between 2003 and 2015

Hongmei Sun, Guanhua Xue, Chao Yan, Shaoli Li, Hanqing Zhao, Yanling Feng, Liqiong Wang

published 20 Jan 2017

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Epidemiological and Molecular Characterization of a Mexican Population Isolate with High Prevalence of Limb-Girdle Muscular Dystrophy Type 2A Due to a Novel Calpain-3 Mutation

Carlos A. Pantoja-Melendez, Antonio Miranda-Duarte, Bladimir Roque-Ramirez, Juan C. Zenteno

published 19 Jan 2017

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Genetic and Clinical Analyses of DOA and LHON in 304 Chinese Patients with Suspected Childhood-Onset Hereditary Optic Neuropathy

Yadi Li, Jie Li, Xiaoyun Jia, Xueshan Xiao, Shiqiang Li, Xiangming Guo

published 12 Jan 2017

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