Detalhe da pesquisa
1.
Dysfunctional nitric oxide signalling increases risk of myocardial infarction.
Nature
; 504(7480): 432-6, 2013 Dec 19.
Artigo
Inglês
| MEDLINE | ID: mdl-24213632
2.
Identification of a Functional PDE5A Variant at the Chromosome 4q27 Coronary Artery Disease Locus in an Extended Myocardial Infarction Family.
Circulation
; 144(8): 662-665, 2021 08 24.
Artigo
Inglês
| MEDLINE | ID: mdl-34424768
3.
Prediction of Causal Candidate Genes in Coronary Artery Disease Loci.
Arterioscler Thromb Vasc Biol
; 35(10): 2207-17, 2015 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-26293461
4.
Hidden mutations in Cornelia de Lange syndrome limitations of sanger sequencing in molecular diagnostics.
Hum Mutat
; 36(1): 26-9, 2015 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-25196272
5.
Hereditary angioedema cosegregating with a novel kininogen 1 gene mutation changing the N-terminal cleavage site of bradykinin.
Allergy
; 74(12): 2479-2481, 2019 12.
Artigo
Inglês
| MEDLINE | ID: mdl-31087670
6.
Whole-exome sequencing in an extended family with myocardial infarction unmasks familial hypercholesterolemia.
BMC Cardiovasc Disord
; 14: 108, 2014 Aug 26.
Artigo
Inglês
| MEDLINE | ID: mdl-25154303
7.
PLA2G6 mutations and Parkinsonism: Long-term follow-up of clinical features and neuropathology.
Mov Disord
; 31(12): 1927-1929, 2016 12.
Artigo
Inglês
| MEDLINE | ID: mdl-27709683
8.
Seemingly dominant inheritance of a recessive ANO10 mutation in romani families with cerebellar ataxia.
Mov Disord
; 31(12): 1929-1931, 2016 12.
Artigo
Inglês
| MEDLINE | ID: mdl-27787937
9.
Dynamic changes in immune gene co-expression networks predict development of type 1 diabetes.
Sci Rep
; 11(1): 22651, 2021 11 22.
Artigo
Inglês
| MEDLINE | ID: mdl-34811390
10.
Genomewide association analysis of coronary artery disease.
N Engl J Med
; 357(5): 443-53, 2007 Aug 02.
Artigo
Inglês
| MEDLINE | ID: mdl-17634449
11.
Old Mice Have Less Transcriptional Activation But Similar Periosteal Cell Proliferation Compared to Young-Adult Mice in Response to in vivo Mechanical Loading.
J Bone Miner Res
; 35(9): 1751-1764, 2020 09.
Artigo
Inglês
| MEDLINE | ID: mdl-32311160
12.
A familial congenital heart disease with a possible multigenic origin involving a mutation in BMPR1A.
Sci Rep
; 9(1): 2959, 2019 02 27.
Artigo
Inglês
| MEDLINE | ID: mdl-30814609
13.
Druggability of Coronary Artery Disease Risk Loci.
Circ Genom Precis Med
; 11(8): e001977, 2018 08.
Artigo
Inglês
| MEDLINE | ID: mdl-30354342
14.
Network analysis of coronary artery disease risk genes elucidates disease mechanisms and druggable targets.
Sci Rep
; 8(1): 3434, 2018 02 21.
Artigo
Inglês
| MEDLINE | ID: mdl-29467471
15.
Genomic correlates of glatiramer acetate adverse cardiovascular effects lead to a novel locus mediating coronary risk.
PLoS One
; 12(8): e0182999, 2017.
Artigo
Inglês
| MEDLINE | ID: mdl-28829817
16.
A genomic exploration identifies mechanisms that may explain adverse cardiovascular effects of COX-2 inhibitors.
Sci Rep
; 7(1): 10252, 2017 08 31.
Artigo
Inglês
| MEDLINE | ID: mdl-28860667
17.
Functional Characterization of Rare RAB12 Variants and Their Role in Musician's and Other Dystonias.
Genes (Basel)
; 8(10)2017 Oct 18.
Artigo
Inglês
| MEDLINE | ID: mdl-29057844
18.
Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction.
Eur J Hum Genet
; 24(2): 191-7, 2016 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-26036859
19.
Genome sequencing identifies a novel mutation in ATP1A3 in a family with dystonia in females only.
J Neurol
; 262(1): 187-93, 2015 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-25359261
20.
New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3).
Eur J Hum Genet
; 23(10): 1334-40, 2015 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-25604858