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.
In vivo activation of the human δ-globin gene: the therapeutic potential in ß-thalassemic mice.
Haematologica
; 99(1): 76-84, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23872310
3.
KLF1 gene mutations cause borderline HbA(2).
Blood
; 118(16): 4454-8, 2011 Oct 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-21821711
4.
Feasibility of RNA studies on illegitimate transcription for molecular characterization of splicing mutations in the ATP7B gene: a case report.
Mol Cell Probes
; 26(2): 63-5, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22019423
5.
Mutation analysis of the ATP7B gene in a new group of Wilson's disease patients: contribution to diagnosis.
Mol Cell Probes
; 26(4): 147-50, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22484412
6.
DAXX is a new AIRE-interacting protein.
J Biol Chem
; 285(17): 13012-21, 2010 Apr 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-20185822
7.
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
8.
Variations in the G6PC2/ABCB11 genomic region are associated with fasting glucose levels.
J Clin Invest
; 118(7): 2620-8, 2008 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-18521185
9.
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
10.
Different switching patterns of ß-thalassaemic mutations at the proximal and distal CACCC box of the human HBB (ß-globin) gene.
Br J Haematol
; 173(5): 794-7, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26251295
11.
Amelioration of Sardinian beta0 thalassemia by genetic modifiers.
Blood
; 114(18): 3935-7, 2009 Oct 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-19696200
12.
Compound heterozygosity for KLF1 mutations associated with remarkable increase of fetal hemoglobin and red cell protoporphyrin.
Haematologica
; 96(5): 767-70, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21273267
13.
DNA and RNA studies for molecular characterization of a gross deletion detected in homozygosity in the NH2-terminal region of the ATP7B gene in a Wilson disease patient.
Mol Cell Probes
; 25(5-6): 195-8, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21925265
14.
DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease.
Proc Natl Acad Sci U S A
; 105(33): 11869-74, 2008 Aug 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-18667698
15.
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
16.
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
17.
Characterization of a disease-associated mutation affecting a putative splicing regulatory element in intron 6b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
J Biol Chem
; 284(44): 30024-31, 2009 Oct 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-19759008
18.
Regulation of the human HBA genes by KLF4 in erythroid cell lines.
Br J Haematol
; 149(5): 748-58, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20331458
19.
20.
Development of TaqMan allelic specific discrimination assay for detection of the most common Sardinian Wilson's disease mutations. Implications for genetic screening.
Mol Cell Probes
; 24(4): 233-5, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20138984