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Filtri: Autore è Gasparini, Paolo and First Letter Of Title is P [Clear All Filters]
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The p.Cys169Tyr variant of connexin 26 is not a polymorphism. Hum Mol Genet 2015;24(9):2641-8.
. Phenotypic and genetic characterization of a family carrying two Xq21.1-21.3 interstitial deletions associated with syndromic hearing loss. Mol Cytogenet 2015;8:18.
. Polymorphisms in sweet taste genes (TAS1R2 and GLUT2), sweet liking, and dental caries prevalence in an adult Italian population. Genes Nutr 2015;10(5):485.
. Population genetic differentiation of height and body mass index across Europe. Nat Genet 2015;47(11):1357-62.
. PSIP1/LEDGF: a new gene likely involved in sensorineural progressive hearing loss. Sci Rep 2015;5:18568.
. Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. Nature 2014;514(7520):92-7.
. . Phospholipase C-β3 is a key modulator of IL-8 expression in cystic fibrosis bronchial epithelial cells. J Immunol 2011;186(8):4946-58.
. A polymorphism in the 5' UTR of the DEFB1 gene is associated with the lung phenotype in F508del homozygous Italian cystic fibrosis patients. Clin Chem Lab Med 2011;49(1):49-54.
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