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Autore [ Titolo] Tipo Anno Filtri: Autore è d'Adamo, Pio [Clear All Filters]
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. Nat Genet 2010;42(12):1077-85.
. Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome. Nat Genet 2011;43(12):1256-61.
. Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor. Am J Hum Genet 2010;86(4):639-49.
. Phospholipase C-β3 is a key modulator of IL-8 expression in cystic fibrosis bronchial epithelial cells. J Immunol 2011;186(8):4946-58.
. Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies. Nat Genet 2011;43(3):259-63.
. Modulation of genetic associations with serum urate levels by body-mass-index in humans. PLoS One 2015;10(3):e0119752.
. Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. Nat Genet 2012;44(3):260-8.
. Juvenile stroke in combined syndrome of hereditary hemorrhagic telangiectasia and juvenile polyposis. Neurol Sci 2014;35(8):1315-8.
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Genomic profiling by whole-genome single nucleotide polymorphism arrays in Wilms tumor and association with relapse. Genes Chromosomes Cancer 2012;51(7):644-53.
. Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. Nat Genet 2013;45(2):145-54.
. Genetic landscape of populations along the Silk Road: admixture and migration patterns. BMC Genet 2014;15:131.
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