Detalhe da pesquisa
1.
Genetic variants regulating immune cell levels in health and disease.
Cell
; 155(1): 242-56, 2013 Sep 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-24074872
2.
GWAS of genetic factors affecting white blood cell morphological parameters in Sardinians uncovers influence of chromosome 11 innate immunity gene cluster on eosinophil morphology.
Hum Mol Genet
; 32(5): 790-797, 2023 02 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36136759
3.
PRF1 mutation alters immune system activation, inflammation, and risk of autoimmunity.
Mult Scler
; 27(9): 1332-1340, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33566725
4.
Overexpression of the Cytokine BAFF and Autoimmunity Risk.
N Engl J Med
; 376(17): 1615-1626, 2017 04 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-28445677
5.
Mitogenome Diversity in Sardinians: A Genetic Window onto an Island's Past.
Mol Biol Evol
; 34(5): 1230-1239, 2017 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28177087
6.
Assessing Mitochondrial DNA Variation and Copy Number in Lymphocytes of ~2,000 Sardinians Using Tailored Sequencing Analysis Tools.
PLoS Genet
; 11(7): e1005306, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26172475
7.
Population genomic analysis of ancient and modern genomes yields new insights into the genetic ancestry of the Tyrolean Iceman and the genetic structure of Europe.
PLoS Genet
; 10(5): e1004353, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24809476
8.
Methods for association analysis and meta-analysis of rare variants in families.
Genet Epidemiol
; 39(4): 227-38, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25740221
9.
Genotype calling and haplotyping in parent-offspring trios.
Genome Res
; 23(1): 142-51, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23064751
10.
Meta-analysis of Genome-Wide Association Studies for Extraversion: Findings from the Genetics of Personality Consortium.
Behav Genet
; 46(2): 170-82, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26362575
11.
A Sardinian founder mutation in glycoprotein Ib platelet subunit beta (GP1BB) that impacts thrombocytopenia.
Br J Haematol
; 191(5): e124-e128, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33216977
12.
A likelihood-based framework for variant calling and de novo mutation detection in families.
PLoS Genet
; 8(10): e1002944, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23055937
13.
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
14.
The Women4Health cohort: a unique cohort to study women-specific mechanisms of cardio-metabolic regulation.
Eur Heart J Open
; 4(2): oeae012, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38532851
15.
Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels.
Hum Mol Genet
; 20(6): 1232-40, 2011 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21208937
16.
Correction: Assessing Mitochondrial DNA Variation and Copy Number in Lymphocytes of ~2,000 Sardinians Using Tailored Sequencing Analysis Tools.
PLoS Genet
; 11(9): e1005549, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26418551
17.
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
18.
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
19.
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
20.
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