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The most severe forms of motoneuron disease manifest in utero are characterized by marked atrophy of spinal cord motoneurons and fetal immobility. Her…
Authors: Heidi O Nousiainen, Marjo Kestilä, Niklas Pakkasjärvi, Heli Honkala, Satu Kuure, Jonna Tallila, Katri Vuopala, Jaakko Ignatius, Riitta Herva, Leena Peltonen
Source: Nature genetics. 2008 Feb
View Free Full TextWe examined the association of common variants at the NPPA-NPPB locus with circulating concentrations of the natriuretic peptides, which have blood pr…
Authors: Christopher Newton-Cheh, Martin G Larson, Ramachandran S Vasan, Daniel Levy, Kenneth D Bloch, Aarti Surti, Candace Guiducci, Sekar Kathiresan, Emelia J Benjamin, Joachim Struck,…
Source: Nature genetics. 2009 Mar
View Free Full TextWe carried out a genome-wide association study of hemoglobin levels in 16,001 individuals of European and Indian Asian ancestry. The most closely asso…
Authors: John C Chambers, Weihua Zhang, Yun Li, Joban Sehmi, Mark N Wass, Delilah Zabaneh, Clive Hoggart, Henry Bayele, Mark I McCarthy, Leena Peltonen,…
Source: Nature genetics. 2009 Nov
View Full TextMeckel syndrome (MKS) is a severe fetal developmental disorder reported in most populations. The clinical hallmarks are occipital meningoencephalocele…
Authors: Mira Kyttälä, Jonna Tallila, Riitta Salonen, Outi Kopra, Nicolai Kohlschmidt, Paulina Paavola-Sakki, Leena Peltonen, Marjo Kestilä
Source: Nature genetics. 2006 Feb
View Full TextTo identify susceptibility loci for ankylosing spondylitis, we undertook a genome-wide association study in 2,053 unrelated ankylosing spondylitis cas…
Authors: Australo-Anglo-American Spondyloarthritis Consortium (TASC), John D Reveille, Anne-Marie Sims, Patrick Danoy, David M Evans, Paul Leo, Jennifer J Pointon, Rui Jin, Xiaodong Zhou, Linda A Bradbury,…
Source: Nature genetics. 2010 Feb
View Full TextGenome-wide association studies (GWAS) of longitudinal birth cohorts enable joint investigation of environmental and genetic influences on complex tra…
Authors: Chiara Sabatti, Susan K Service, Anna-Liisa Hartikainen, Anneli Pouta, Samuli Ripatti, Jae Brodsky, Chris G Jones, Noah A Zaitlen, Teppo Varilo, Marika Kaakinen,…
Source: Nature genetics. 2009 Jan
View Free Full TextMeckel syndrome (MKS) is a lethal malformation disorder characterized classically by encephalocele, polycystic kidneys, and polydactyly. MKS is also o…
Authors: Jonna Tallila, Eveliina Jakkula, Leena Peltonen, Riitta Salonen, Marjo Kestilä
Source: American journal of human genetics. 2008 Jun
View Free Full TextBlood concentrations of lipoproteins and lipids are heritable risk factors for cardiovascular disease. Using genome-wide association data from three s…
Authors: Sekar Kathiresan, Olle Melander, Candace Guiducci, Aarti Surti, Noël P Burtt, Mark J Rieder, Gregory M Cooper, Charlotta Roos, Benjamin F Voight, Aki S Havulinna,…
Source: Nature genetics. 2008 Feb
View Free Full TextAutoimmune polyendocrinopathy syndrome type 1 is a recessive Mendelian disorder resulting from mutations in a novel gene, AIRE, and is characterized b…
Authors: Adrian Liston, Sylvie Lesage, Judith Wilson, Leena Peltonen, Christopher C Goodnow
Source: Nature immunology. 2003 Apr
View Full TextHeight is a classic polygenic trait, reflecting the combined influence of multiple as-yet-undiscovered genetic factors. We carried out a meta-analysis…
Authors: Guillaume Lettre, Anne U Jackson, Christian Gieger, Fredrick R Schumacher, Sonja I Berndt, Serena Sanna, Susana Eyheramendy, Benjamin F Voight, Johannah L Butler, Candace Guiducci,…
Source: Nature genetics. 2008 May
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