Export 9 results:
Autore [ Titolo] Tipo Anno Filtri: Autore è d'Adamo, Adamo Pio [Clear All Filters]
.
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.
. Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. Nature 2014;514(7520):92-7.
. A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss. Gene 2014;534(2):236-9.
. A novel CRYBB2 missense mutation causing congenital autosomal dominant cataract in an Italian family. Ophthalmic Genet 2013;34(1-2):115-7.
. Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. Nat Genet 2011;43(10):1005-11.
. Does the 1.5 Mb microduplication in chromosome band Xp22.31 have a pathogenetic role? New contribution and a review of the literature. Am J Med Genet A 2012;158A(2):461-4.
. DNA mismatch repair gene MSH6 implicated in determining age at natural menopause. Hum Mol Genet 2014;23(9):2490-7.
. 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function. Sci Rep 2017;7:45040.
.