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Two different fibrinogen gene mutations associated with bleeding in the same family (A αGly13Glu and γGly16Ser) and their impact on fibrin clot properties: fibrinogen Krakow II and Krakow III. Pietrys, Danuta; Balwierz, Walentyna; Iwaniec, Teresa; Vorjohann, Silja; ... Undas, Anetta 2011
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The relevance of HLA sequencing in population genetics studies Sanchez-Mazas, Alicia; Meyer, Diogo 2014
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The IFNL3/4 ΔG variant increases susceptibility to cytomegalovirus retinitis among HIV-infected patients Bibert, Stéphanie; Wojtowicz, Agnieszka; Taffe, Patrick; Manuel, Oriol; ... Bochud, Pierre-Yves 2014
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Synchronized age-related gene expression changes across multiple tissues in human and the link to complex diseases Yang, Jialiang; Huang, Tao; Petralia, Francesca; Long, Quan; ... Mobbs, Charles V 2015
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SNPs and other features as they predispose to complex disease: genome-wide predictive analysis of a quantitative phenotype for hypertension Won, Joong-Ho; Ehret, Georg Benedikt; Chakravarti, Aravinda; Olshen, Richard A 2011
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Serum iron levels and the risk of Parkinson disease: a Mendelian randomization study Pichler, Irene; Del Greco M, Fabiola; Gögele, Martin; Lill, Christina M; ... Pramstaller, Peter 2013
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Replication of association between a SCN1A splice variant and febrile seizures Le Gal, François; Trachsler-Salzmann, Annick; Crespel, Arielle; Malafosse, Alain 2011
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Rare nonsynonymous variants in SORT1 are associated with increased risk for frontotemporal dementia BELNEU Consortium, EU EOD Consortium 2018
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Polymorphism in multidrug resistance-associated protein gene 3 is associated with outcomes in childhood acute lymphoblastic leukemia Ansari Djaberi, Marc Georges; Sauty, G; Labuda, M; Gagné, V; ... Krajinovic, M 2012
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Pharmacogenetics of antidepressant response: A polygenic approach Major Depressive DisorderWorking Group of the Psychiatric Genomic Consortium1 2017
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Inferior vena cava agenesis: Association with bilateral lower-limb deep vein thrombosis in young males Guanella, Raphaël; Glauser, Frédéric; Bounameaux, Henri; Mazzolai, Lucia 2009
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Impact of CD14 Polymorphisms on Anti-Apolipoprotein A-1 IgG-Related Coronary Artery Disease Prediction in the General Population Antiochos, Panagiotis; Marques-Vidal, Pedro; Virzi, Julien; Pagano, Sabrina; ... Vuilleumier, Nicolas 2017
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GSTP1 hypermethylation is associated with reduced protein expression, aggressive disease and prognosis in neuroblastoma Gumy-Pause, Fabienne; Pardo, Bruno; Khoshbeen-Boudal, Mary; Ansari, Marc; ... Ozsahin, Ayse Hulya 2012
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Genome-wide and candidate gene approaches of clopidogrel efficacy using pharmacodynamic and clinical end points-Rationale and design of the International Clopidogrel Pharmacogenomics Consortium (ICPC) International Clopidogrel Pharmacogenomics Consortium 2018
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EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations Eggens, Veerle Rc; Barth, Peter G; Niermeijer, Jikke-Mien F; Berg, Jonathan N; ... Baas, Frank 2014
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Excess maternal transmission of variants in the THADA gene to offspring with type 2 diabetes Prasad, Rashmi B; Lessmark, Anna; Almgren, Peter; Kovacs, Györgyi; ... Groop, Leif 2016
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European collaborative study of early-onset bipolar disorder: Evidence for genetic heterogeneity on 2q14 according to age at onset Mathieu, Flavie; Dizier, Marie-Helene; Etain, Bruno; Jamain, Stephane; ... Bellivier, Frank 2010
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Epigenome-wide scans identify differentially methylated regions for age and age-related phenotypes in a healthy ageing population Bell, Jordana T; Tsai, Pei-Chien; Yang, Tsun-Po; Pidsley, Ruth; ... Deloukas, Panos 2012
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Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion Klopocki, Eva; Lohan, Silke; Doelken, Sandra C; Stricker, Sigmar; ... Mundlos, Stefan 2012
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Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies Masnada, Silvia; Hedrich, Ulrike B S; Gardella, Elena; Korff, Christian; ... Rubboli, Guido 2017
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Clinical and genetic correlates of suicidal ideation during antidepressant treatment in a depressed outpatient sample Perroud, Nader Ali; Bondolfi, Guido; Uher, Rudolf; Gex-Fabry, Marianne; ... Kosel, Markus Mathaus 2011
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Cis and trans effects of human genomic variants on gene expression Bryois, Julien; Buil Demur, Alfonso Alberto; Evans, David M; Kemp, John P; ... Dermitzakis, Emmanouil 2014
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BRD2 and TAP-1 genes and juvenile myoclonic epilepsy Layouni, Samia; Buresi, Catherine; Thomas, Pierre; Malafosse, Alain; Dogui, Mohamed 2010
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Association of STR polymorphisms in CMA1 and IL-4 with asthma and atopy: the SAPALDIA cohort Hersberger, Martin; Thun, Gian-Andri; Imboden, Medea; Brandstatter, Anita; ... Probst-Hensch, Nicole 2010
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Association of AKT1 gene variants and protein expression in both schizophrenia and bipolar disorder Karege, Félicien; Perroud, Nader Ali; Schurhoff, F.; Meary, A.; ... Malafosse, Alain 2010
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Association of a common vitamin D-binding protein polymorphism with inflammatory bowel disease Eloranta, Jyrki J; Wenger, Christa; Mwinyi, Jessica; Hiller, Christian; ... Kullak-Ublick, Gerd A 2011
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Analysis of case-control association studies with known risk variants Zaitlen, Noah; Pasaniuc, Bogdan; Patterson, Nick; Pollack, Samuela; ... Price, Alkes L 2012
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Allelic mapping bias in RNA-sequencing is not a major confounder in eQTL studies Panousis, Nikolaos; Gutierrez Arcelus, Maria; Dermitzakis, Emmanouil; Lappalainen, Tuuli Emilia 2014
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ADME pharmacogenetics: investigation of the pharmacokinetics of the antiretroviral agent lopinavir coformulated with ritonavir Lubomirov, Rubin; di Iulio, J.; Fayet, A.; Colombo, Sara; ... Telenti, A. 2010
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A predictive clinical-genetic model of tissue plasminogen activator response in acute ischemic stroke del Río-Espínola, Alberto; Fernández-Cadenas, Israel; Giralt, Dolors; Quiroga, Adoracion; ... Montaner, Joan 2012
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A novel frameshift mutation in FGA (c.1846 del A) leading to congenital afibrinogenemia in a consanguineous Syrian family Levrat, Emmanuel; Aboukhamis, Imad; De Moerloose, Philippe; Farho, Jaafar; ... Neerman Arbez, Marguerite 2011
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A map of human genome variation from population-scale sequencing 1000 Genomes Project Consortium 2010