Detalhe da pesquisa
1.
Estimation of metabolic syndrome heritability in three large populations including full pedigree and genomic information.
Hum Genet
; 138(7): 739-748, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-31154530
2.
Six Novel Loci Associated with Circulating VEGF Levels Identified by a Meta-analysis of Genome-Wide Association Studies.
PLoS Genet
; 12(2): e1005874, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26910538
3.
Genetic Variants Associated with Circulating Parathyroid Hormone.
J Am Soc Nephrol
; 28(5): 1553-1565, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-27927781
4.
Genome-wide association analysis on normal hearing function identifies PCDH20 and SLC28A3 as candidates for hearing function and loss.
Hum Mol Genet
; 24(19): 5655-64, 2015 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26188009
5.
Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error.
Hum Mol Genet
; 22(13): 2754-64, 2013 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23474815
6.
Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.
Hum Genet
; 134(2): 131-46, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25367360
7.
Application of a new method for GWAS in a related case/control sample with known pedigree structure: identification of new loci for nephrolithiasis.
PLoS Genet
; 7(1): e1001281, 2011 Jan 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-21283782
8.
Hearing function and thresholds: a genome-wide association study in European isolated populations identifies new loci and pathways.
J Med Genet
; 48(6): 369-74, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21493956
9.
Epidemiology of osteoporosis in an isolated Sardinian population by using quantitative ultrasound.
Am J Epidemiol
; 174(4): 432-9, 2011 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21709133
10.
Analysis of 12,517 inhabitants of a Sardinian geographic isolate reveals that predispositions to thrombocytopenia and thrombocytosis are inherited traits.
Haematologica
; 96(1): 96-101, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20823129
11.
A strategy analysis for genetic association studies with known inbreeding.
BMC Genet
; 12: 63, 2011 Jul 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-21767363
12.
History, geography and population structure influence the distribution and heritability of blood and anthropometric quantitative traits in nine Sardinian genetic isolates.
Genet Res (Camb)
; 92(3): 199-208, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20667164
13.
Microsatellites and SNPs linkage analysis in a Sardinian genetic isolate confirms several essential hypertension loci previously identified in different populations.
BMC Med Genet
; 10: 81, 2009 Aug 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-19715579
14.
Patterns of linkage disequilibrium between SNPs in a Sardinian population isolate and the selection of markers for association studies.
Hum Hered
; 65(1): 9-22, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-17652959
15.
Whole-genome sequencing reveals new insights into age-related hearing loss: cumulative effects, pleiotropy and the role of selection.
Eur J Hum Genet
; 26(8): 1167-1179, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29725052
16.
Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error.
Nat Commun
; 7: 11008, 2016 Mar 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-27020472
17.
Browsing isolated population data.
BMC Bioinformatics
; 6 Suppl 4: S17, 2005 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-16351743
18.
Dissecting metabolic syndrome components: data from an epidemiologic survey in a genetic isolate.
Springerplus
; 4: 324, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26180744
19.
Emergence of Talanin protein associated with human uric acid nephrolithiasis in the Hominidae lineage.
Gene
; 339: 131-8, 2004 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-15363853
20.
Phylogeny and patterns of diversity of goat mtDNA haplogroup A revealed by resequencing complete mitogenomes.
PLoS One
; 9(4): e95969, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24763315