Detalhe da pesquisa
1.
A comprehensive overview of the cystic fibrosis on the island of São Miguel (Azores, Portugal).
BMC Pediatr
; 20(1): 2, 2020 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31900120
2.
A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report.
BMC Dermatol
; 18(1): 1, 2018 01 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-29352809
3.
Genetic variants involved in oxidative stress, base excision repair, DNA methylation, and folate metabolism pathways influence myeloid neoplasias susceptibility and prognosis.
Mol Carcinog
; 56(1): 130-148, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26950655
4.
Genealogical and molecular analysis of a family-based cohort of congenital heart disease patients from the São Miguel Island (Azores, Portugal).
Ann Hum Biol
; 43(6): 547-553, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26568276
5.
Genetic variation in key genes associated with statin therapy in the Azores Islands (Portugal) healthy population.
Ann Hum Biol
; 42(3): 283-9, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25224634
6.
Screening of copy number variants in the 22q11.2 region of congenital heart disease patients from the São Miguel Island, Azores, revealed the second patient with a triplication.
BMC Genet
; 15: 115, 2014 Nov 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25376777
7.
Thrombotic genetic risk factors and warfarin pharmacogenetic variants in São Miguel's healthy population (Azores).
Thromb J
; 7: 9, 2009 Jun 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-19538716
8.
Linkage disequilibrium and diversity for three genomic regions in Azoreans and mainland Portuguese.
Genet Mol Biol
; 32(2): 220-6, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21637671
9.
Evaluation of linkage disequilibrium on the Xq13.3 region: comparison between the Azores islands and mainland Portugal.
Am J Hum Biol
; 20(3): 364-6, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18257075
10.
Diagnosis of Human Leptospirosis in a Clinical Setting: Real-Time PCR High Resolution Melting Analysis for Detection of Leptospira at the Onset of Disease.
Sci Rep
; 8(1): 9213, 2018 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29907838
11.
Molecular diagnosis of infectious diseases in São Miguel Island (Azores, Portugal): A hospital-based descriptive study.
J Infect Dev Ctries
; 10(9): 956-967, 2016 Sep 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-27694728
12.
Carriers of the Complex Allele HFE c.[187C>G;340+4T>C] Have Increased Risk of Iron Overload in São Miguel Island Population (Azores, Portugal).
PLoS One
; 10(10): e0140228, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26501199
13.
Human leptospirosis: seroreactivity and genetic susceptibility in the population of São Miguel Island (Azores, Portugal).
PLoS One
; 9(9): e108534, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25255143
14.
Genetic risk assessment for cardiovascular disease in Azoreans (Portugal): a general population-based study.
Gene
; 532(1): 132-9, 2013 Dec 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-24042129
15.
HLA Class I and II profiles in São Miguel Island (Azores): genetic diversity and linkage disequilibrium.
BMC Res Notes
; 3: 134, 2010 May 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-20462405
16.
UGT1A1, UGT1A6 and UGT1A7 genetic analysis: repercussion for irinotecan pharmacogenetics in the São Miguel Island Population (Azores, Portugal).
Mol Diagn Ther
; 13(4): 261-8, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19712005
17.
Azores Islands: genetic origin, gene flow and diversity pattern.
Ann Hum Biol
; 35(1): 65-74, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18274926
18.
Genetic signature of the São Miguel Island population (Azores) assessed by 21 microsatellite loci.
Am J Hum Biol
; 20(1): 118-20, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-17990326
19.
Assessment of Azorean ancestry by Alu insertion polymorphisms.
Am J Hum Biol
; 18(2): 223-6, 2006.
Artigo
em Inglês
| MEDLINE | ID: mdl-16493635
20.
Surnames in the Azores: analysis of the isonymy structure.
Hum Biol
; 77(1): 37-44, 2005 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-16114815