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Single nucleotide polymorphisms

A Mutation in Mouse Pak1ip1 Causes Orofacial Clefting while Human PAK1IP1 Maps to 6p24 Translocation Breaking Points Associated with Orofacial Clefting

Adam P. Ross, M. Adela Mansilla, Youngshik Choe, Simon Helminski, Richard Sturm, Roy L. Maute, Scott R. May, Kamil K. Hozyasz, Piotr Wójcicki, Adrianna Mostowska, Beth Davidson, Iannis E. Adamopoulos, Samuel J. Pleasure, Jeffrey C. Murray, Konstantinos S. Zarbalis

published 25 Jul 2013

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Prediction of Disease Causing Non-Synonymous SNPs by the Artificial Neural Network Predictor NetDiseaseSNP

Morten Bo Johansen, Jose M. G. Izarzugaza, Søren Brunak, Thomas Nordahl Petersen, Ramneek Gupta

published 25 Jul 2013

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Development of Molecular Resources for an Intertidal Clam, Sinonovacula constricta, Using 454 Transcriptome Sequencing

Donghong Niu, Lie Wang, Fanyue Sun, Zhanjiang Liu, Jiale Li

published 25 Jul 2013

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A Replication Study for Association of ITPKC and CASP3 Two-Locus Analysis in IVIG Unresponsiveness and Coronary Artery Lesion in Kawasaki Disease

Ho-Chang Kuo, Yu-Wen Hsu, Chung-Min Wu, Shawn Hsiang-Yin Chen, Kuo-Sheng Hung, Wei-Pin Chang, Kuender D. Yang, Kai-Sheng Hsieh, Wei-Chiao Chen, Yoshihiro Onouchi, Wei-Chiao Chang

published 24 Jul 2013

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An Integrated Tool to Study MHC Region: Accurate SNV Detection and HLA Genes Typing in Human MHC Region Using Targeted High-Throughput Sequencing

Hongzhi Cao, Jinghua Wu, Yu Wang, Hui Jiang, Tao Zhang, Xiao Liu, Yinyin Xu, Dequan Liang, Peng Gao, Yepeng Sun, Benjamin Gifford, Mark D’Ascenzo, Xiaomin Liu, Laurent C. A. M. Tellier, Fang Yang, Xin Tong, Dan Chen, Jing Zheng, Weiyang Li, Todd Richmond, Xun Xu, Jun Wang, Yingrui Li

published 24 Jul 2013

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Variable Myopathic Presentation in a Single Family with Novel Skeletal RYR1 Mutation

Ruben Attali, Sharon Aharoni, Susan Treves, Ori Rokach, Michal Becker Cohen, Yakov Fellig, Rachel Straussberg, Talya Dor, Muhannad Daana, Stella Mitrani-Rosenbaum, Yoram Nevo

published 24 Jul 2013

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Influence of Genetic Variation on Plasma Protein Levels in Older Adults Using a Multi-Analyte Panel

Sungeun Kim, Shanker Swaminathan, Mark Inlow, Shannon L. Risacher, Kwangsik Nho, Li Shen, Tatiana M. Foroud, Ronald C. Petersen, Paul S. Aisen, Holly Soares, Jon B. Toledo, Leslie M. Shaw, John Q. Trojanowski, Michael W. Weiner, Brenna C. McDonald, Martin R. Farlow, Bernardino Ghetti, Andrew J. Saykin, for the Alzheimer’s Disease Neuroimaging Initiative (ADNI)

published 23 Jul 2013

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Associations between a Polymorphism in the Pleiotropic GCKR and Age-Related Phenotypes: The HALCyon Programme

Tamuno Alfred, Yoav Ben-Shlomo, Rachel Cooper, Rebecca Hardy, Ian J. Deary, Jane Elliott, Sarah E. Harris, Mika Kivimaki, Meena Kumari, Chris Power, John M. Starr, Diana Kuh, Ian N. M. Day, the HALCyon study team

published 23 Jul 2013

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Polymorphisms in DNA-Repair Genes in a Cohort of Prostate Cancer Patients from Different Areas in Spain: Heterogeneity between Populations as a Confounding Factor in Association Studies

Luis Alberto Henríquez-Hernández, Almudena Valenciano, Palmira Foro-Arnalot, María Jesús Álvarez-Cubero, José Manuel Cozar, José Francisco Suárez-Novo, Manel Castells-Esteve, Adriana Ayala-Gil, Pablo Fernández-Gonzalo, Montse Ferrer, Ferrán Guedea, Gemma Sancho-Pardo, Jordi Craven-Bartle, María José Ortiz-Gordillo, Patricia Cabrera-Roldán, Estefanía Herrera-Ramos, Pedro C. Lara

published 23 Jul 2013

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Genetic Variants in Hormone-Related Genes and Risk of Breast Cancer

Tess Clendenen, Anne Zeleniuch-Jacquotte, Isaac Wirgin, Karen L. Koenig, Yelena Afanasyeva, Eva Lundin, Alan A. Arslan, Tomas Axelsson, Asta Försti, Göran Hallmans, Kari Hemminki, Per Lenner, Nirmal Roy, Roy E. Shore, Yu Chen

published 23 Jul 2013

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FGFR1OP tagSNP but Not CCR6 Polymorphisms Are Associated with Vogt-Koyanagi-Harada Syndrome in Chinese Han

Xianglong Yi, Liping Du, Shengping Hou, Fuzhen Li, Yuanyuan Chen, Aize Kijlstra, Peizeng Yang

published 23 Jul 2013

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Genome-Wide Association Mapping for Identification of Quantitative Trait Loci for Rectal Temperature during Heat Stress in Holstein Cattle

Serdal Dikmen, John B. Cole, Daniel J. Null, Peter J. Hansen

published 23 Jul 2013

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Identification of Genome-Wide Copy Number Variations among Diverse Pig Breeds Using SNP Genotyping Arrays

Jiying Wang, Haifei Wang, Jicai Jiang, Huimin Kang, Xiaotian Feng, Qin Zhang, Jian-Feng Liu

published 23 Jul 2013

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