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.
Relative impact of indels versus SNPs on complex disease.
Genet Epidemiol
; 43(1): 112-117, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30565766
5.
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
6.
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
7.
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
8.
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
9.
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
10.
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
11.
Region-specific changes in gene expression are associated with cognitive deficits in the alpha-synuclein-induced model of Parkinson's disease: A transcriptomic profiling study.
Exp Neurol
; 372: 114651, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38092188
12.
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
13.
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
14.
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
15.
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
16.
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
17.
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
18.
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
19.
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
20.
Genomic history of the Sardinian population.
Nat Genet
; 50(10): 1426-1434, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30224645