Detalhe da pesquisa
1.
A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation.
PLoS Genet
; 8(1): e1002480, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22291609
2.
Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome.
Hum Mutat
; 35(4): 424-33, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24488861
3.
Fine mapping of five loci associated with low-density lipoprotein cholesterol detects variants that double the explained heritability.
PLoS Genet
; 7(7): e1002198, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21829380
4.
Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations.
Am J Hum Genet
; 84(4): 477-82, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19303062
5.
Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia.
Hum Mol Genet
; 18(14): 2711-8, 2009 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19419973
6.
Phosphodiesterase 8B gene variants are associated with serum TSH levels and thyroid function.
Am J Hum Genet
; 82(6): 1270-80, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18514160
7.
Amelioration of Sardinian beta0 thalassemia by genetic modifiers.
Blood
; 114(18): 3935-7, 2009 Oct 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-19696200
8.
Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia.
Proc Natl Acad Sci U S A
; 105(5): 1620-5, 2008 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-18245381
9.
The central arterial burden of the metabolic syndrome is similar in men and women: the SardiNIA Study.
Eur Heart J
; 31(5): 602-13, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19942601
10.
Genome-wide association scan shows genetic variants in the FTO gene are associated with obesity-related traits.
PLoS Genet
; 3(7): e115, 2007 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-17658951
11.
The GLUT9 gene is associated with serum uric acid levels in Sardinia and Chianti cohorts.
PLoS Genet
; 3(11): e194, 2007 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17997608
12.
Heritability of cardiovascular and personality traits in 6,148 Sardinians.
PLoS Genet
; 2(8): e132, 2006 Aug 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-16934002
13.
Common variants at ten loci modulate the QT interval duration in the QTSCD Study.
Nat Genet
; 41(4): 407-14, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19305409
14.
Common variants in the GDF5-UQCC region are associated with variation in human height.
Nat Genet
; 40(2): 198-203, 2008 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18193045
15.
Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1.
Am J Hum Genet
; 80(5): 971-81, 2007 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-17436252