Detalhe da pesquisa
1.
Posttranscriptional Regulation of the Human LDL Receptor by the U2-Spliceosome.
Circ Res
; 130(1): 80-95, 2022 01 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34809444
2.
Prevalence of FH-Causing Variants and Impact on LDL-C Concentration in European, South Asian, and African Ancestry Groups of the UK Biobank-Brief Report.
Arterioscler Thromb Vasc Biol
; 43(9): 1737-1742, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37409534
3.
Should Familial Hypercholesterolaemia Be Included in the UK Newborn Whole Genome Sequencing Programme?
Curr Atheroscler Rep
; 25(12): 1083-1091, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-38060059
4.
The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification.
Genet Med
; 24(2): 293-306, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906454
5.
PCSK6 Is a Key Protease in the Control of Smooth Muscle Cell Function in Vascular Remodeling.
Circ Res
; 126(5): 571-585, 2020 02 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-31893970
6.
Genetic testing for familial hypercholesterolemia-past, present, and future.
J Lipid Res
; 62: 100139, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34666015
7.
Alcohol consumption in relation to carotid subclinical atherosclerosis and its progression: results from a European longitudinal multicentre study.
Eur J Nutr
; 60(1): 123-134, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-32206896
8.
The UK10K project identifies rare variants in health and disease.
Nature
; 526(7571): 82-90, 2015 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26367797
9.
Non-HDL or LDL cholesterol in heterozygous familial hypercholesterolaemia: findings of the Simon Broome Register.
Curr Opin Lipidol
; 31(4): 167-175, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32618729
10.
Analysis of the genetic variants associated with circulating levels of sgp130. Results from the IMPROVE study.
Genes Immun
; 21(2): 100-108, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31932740
11.
The familial hypercholesterolaemia phenotype: Monogenic familial hypercholesterolaemia, polygenic hypercholesterolaemia and other causes.
Clin Genet
; 97(3): 457-466, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31893465
12.
Management of familial hypercholesterolaemia in childhood.
Curr Opin Pediatr
; 32(5): 633-640, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32833799
13.
Mapping of 79 loci for 83 plasma protein biomarkers in cardiovascular disease.
PLoS Genet
; 13(4): e1006706, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28369058
14.
Effect of Coronary Artery Disease risk SNPs on serum cytokine levels and cytokine imbalance in Premature Coronary Artery Disease.
Cytokine
; 122: 154060, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28705542
15.
Statins for children with familial hypercholesterolemia.
Cochrane Database Syst Rev
; 2019(11)2019 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31696945
16.
Polygenic Hypercholesterolemia and Cardiovascular Disease Risk.
Curr Cardiol Rep
; 21(6): 43, 2019 04 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-31011892
17.
ClinVar database of global familial hypercholesterolemia-associated DNA variants.
Hum Mutat
; 39(11): 1631-1640, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30311388
18.
Increased Levels of Circulating Fatty Acids Are Associated with Protective Effects against Future Cardiovascular Events in Nondiabetics.
J Proteome Res
; 17(2): 870-878, 2018 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29235871
19.
Causal Associations of Adiposity and Body Fat Distribution With Coronary Heart Disease, Stroke Subtypes, and Type 2 Diabetes Mellitus: A Mendelian Randomization Analysis.
Circulation
; 135(24): 2373-2388, 2017 Jun 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-28500271
20.
The UCL low-density lipoprotein receptor gene variant database: pathogenicity update.
J Med Genet
; 54(4): 217-223, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27821657