Detalhe da pesquisa
1.
Boosting GWAS using biological networks: A study on susceptibility to familial breast cancer.
PLoS Comput Biol
; 17(3): e1008819, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33735170
2.
Gene- and pathway-level analyses of iCOGS variants highlight novel signaling pathways underlying familial breast cancer susceptibility.
Int J Cancer
; 148(8): 1895-1909, 2021 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33368296
3.
WDR34, a candidate gene for non-syndromic rod-cone dystrophy.
Clin Genet
; 99(2): 298-302, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33124039
4.
Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing.
Int J Cancer
; 144(8): 1962-1974, 2019 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30303537
5.
Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome.
Hum Mol Genet
; 24(1): 230-42, 2015 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25168386
6.
Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.
BMC Cancer
; 17(1): 328, 2017 05 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28499365
7.
CRB1 mutations in inherited retinal dystrophies.
Hum Mutat
; 33(2): 306-15, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22065545
8.
A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family.
Mol Vis
; 17: 1598-606, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21738389
9.
Gene network and biological pathways associated with susceptibility to differentiated thyroid carcinoma.
Sci Rep
; 11(1): 8932, 2021 04 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-33903625
10.
EIF2AK4 mutations cause pulmonary veno-occlusive disease, a recessive form of pulmonary hypertension.
Nat Genet
; 46(1): 65-9, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24292273
11.
Positive selection of protective variants for type 2 diabetes from the Neolithic onward: a case study in Central Asia.
Eur J Hum Genet
; 21(10): 1146-51, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23340510
12.
HLA-DRB1*01 associated with cutaneous hypersensitivity induced by nevirapine and efavirenz.
AIDS
; 22(4): 540-1, 2008 Feb 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-18301070
13.
A European study of HLA-B in Stevens-Johnson syndrome and toxic epidermal necrolysis related to five high-risk drugs.
Pharmacogenet Genomics
; 18(2): 99-107, 2008 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18192896
14.
Linkage disequilibrium in human populations.
Proc Natl Acad Sci U S A
; 100(10): 6069-74, 2003 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-12721363