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Single nucleotide polymorphisms

P2RX7: Expression Responds to Sleep Deprivation and Associates with Rapid Cycling in Bipolar Disorder Type 1

Lena Backlund, Catharina Lavebratt, Louise Frisén, Pernilla Nikamo, Dzana Hukic Sudic, Lil Träskman-Bendz, Mikael Landén, Gunnar Edman, Marquis P. Vawter, Urban Ösby, Martin Schalling

published 28 Aug 2012

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Genome-Wide Association Study of d-Amphetamine Response in Healthy Volunteers Identifies Putative Associations, Including Cadherin 13 (CDH13)

Amy B. Hart, Barbara E. Engelhardt, Margaret C. Wardle, Greta Sokoloff, Matthew Stephens, Harriet de Wit, Abraham A. Palmer

published 28 Aug 2012

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Inherited MST1 Deficiency Underlies Susceptibility to EV-HPV Infections

Amandine Crequer, Capucine Picard, Etienne Patin, Aurelia D’Amico, Avinash Abhyankar, Martine Munzer, Marianne Debré, Shen-Ying Zhang, Geneviève de Saint-Basile, Alain Fischer, Laurent Abel, Gérard Orth, Jean-Laurent Casanova, Emmanuelle Jouanguy

published 27 Aug 2012

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Genome-Wide Association Study of African and European Americans Implicates Multiple Shared and Ethnic Specific Loci in Sarcoidosis Susceptibility

Indra Adrianto, Chee Paul Lin, Jessica J. Hale, Albert M. Levin, Indrani Datta, Ryan Parker, Adam Adler, Jennifer A. Kelly, Kenneth M. Kaufman, Christopher J. Lessard, Kathy L. Moser, Robert P. Kimberly, John B. Harley, Michael C. Iannuzzi, Benjamin A. Rybicki, Courtney G. Montgomery

published 27 Aug 2012

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TFAP2B Influences the Effect of Dietary Fat on Weight Loss under Energy Restriction

Tanja Stocks, Lars Ängquist, Karina Banasik, Marie N. Harder, Moira A. Taylor, Jörg Hager, Peter Arner, Jean-Michel Oppert, J. Alfredo Martinez, Jan Polak, Francis Rousseau, Dominique Langin, Stephan Rössner, Claus Holst, Ian A. MacDonald, Yoichiro Kamatani, Andreas F. H. Pfeiffer, Marie Kunesova, Wim H. M. Saris, Torben Hansen, Oluf Pedersen, Arne Astrup, Thorkild I. A. Sørensen

published 27 Aug 2012

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Segregation of LIPG, CETP, and GALNT2 Mutations in Caucasian Families with Extremely High HDL Cholesterol

Ian Tietjen, G. Kees Hovingh, Roshni R. Singaraja, Chris Radomski, Amina Barhdadi, Jason McEwen, Elden Chan, Maryanne Mattice, Annick Legendre, Patrick L. Franchini, Marie-Pierre Dubé, John J. P. Kastelein, Michael R. Hayden

published 27 Aug 2012

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FunSAV: Predicting the Functional Effect of Single Amino Acid Variants Using a Two-Stage Random Forest Model

Mingjun Wang, Xing-Ming Zhao, Kazuhiro Takemoto, Haisong Xu, Yuan Li, Tatsuya Akutsu, Jiangning Song

published 24 Aug 2012

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Variations of CHI3L1, Levels of the Encoded Glycoprotein YKL-40 and Prediction of Fatal and Non-fatal Ischemic Stroke

Camilla Noelle Rathcke, Stine Brinkloev Thomsen, Allan Linneberg, Henrik Vestergaard

published 24 Aug 2012

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Combined Species Identification, Genotyping, and Drug Resistance Detection of Mycobacterium tuberculosis Cultures by MLPA on a Bead-Based Array

Indra Bergval, Sarah Sengstake, Nadia Brankova, Viktoria Levterova, Edgar Abadía, Nino Tadumaze, Nino Bablishvili, Maka Akhalaia, Kiki Tuin, Anja Schuitema, Stefan Panaiotov, Elizabeta Bachiyska, Todor Kantardjiev, Rina de Zwaan, Anita Schürch, Dick van Soolingen, Anja van ‘t Hoog, Frank Cobelens, Rusudan Aspindzelashvili, Christophe Sola, Paul Klatser, Richard Anthony

published 20 Aug 2012

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ATXN2 and Its Neighbouring Gene SH2B3 Are Associated with Increased ALS Risk in the Turkish Population

Suna Lahut, Özgür Ömür, Özgün Uyan, Zeynep Sena Ağım, Aslihan Özoğuz, Yeşim Parman, Feza Deymeer, Piraye Oflazer, Filiz Koç, Hilmi Özçelik, Georg Auburger, A. Nazlı Başak

published 20 Aug 2012

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Analysis of MDM2 and MDM4 Single Nucleotide Polymorphisms, mRNA Splicing and Protein Expression in Retinoblastoma

Justina McEvoy, Anatoly Ulyanov, Rachel Brennan, Gang Wu, Stanley Pounds, Jinghui Zhang, Michael A. Dyer

published 20 Aug 2012

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Sex-Specific Regulation of Mitochondrial DNA Levels: Genome-Wide Linkage Analysis to Identify Quantitative Trait Loci

Sonia López, Alfonso Buil, Juan Carlos Souto, Jordi Casademont, John Blangero, Angel Martinez-Perez, Jordi Fontcuberta, Mark Lathrop, Laura Almasy, Jose Manuel Soria

published 20 Aug 2012

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Genetic and Environmental Factors Influencing the Placental Growth Factor (PGF) Variation in Two Populations

Rossella Sorice, Daniela Ruggiero, Teresa Nutile, Mario Aversano, Lotte Husemoen, Allan Linneberg, Catherine Bourgain, Anne-Louise Leutenegger, Marina Ciullo

published 20 Aug 2012

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