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.
Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy.
Eur Heart J
; 42(32): 3063-3073, 2021 08 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34263907
4.
Genetic testing for familial hypercholesterolemia-past, present, and future.
J Lipid Res
; 62: 100139, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34666015
5.
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
6.
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
7.
Polygenic Hypercholesterolemia and Cardiovascular Disease Risk.
Curr Cardiol Rep
; 21(6): 43, 2019 04 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-31011892
8.
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
9.
Genetic Architecture of Familial Hypercholesterolaemia.
Curr Cardiol Rep
; 19(5): 44, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28405938
10.
Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis.
Hum Mutat
; 37(4): 364-70, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26703369
11.
Improving the cost-effectiveness equation of cascade testing for familial hypercholesterolaemia.
Curr Opin Lipidol
; 26(3): 162-8, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25887683
12.
Child-Parent Familial Hypercholesterolemia Screening in Primary Care.
N Engl J Med
; 376(5): 499, 2017 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28146662
13.
Refinement of variant selection for the LDL cholesterol genetic risk score in the diagnosis of the polygenic form of clinical familial hypercholesterolemia and replication in samples from 6 countries.
Clin Chem
; 61(1): 231-8, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25414277
14.
Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations.
J Med Genet
; 51(8): 537-44, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24987033
15.
The genetic architecture of the familial hyperlipidaemia syndromes: rare mutations and common variants in multiple genes.
Curr Opin Lipidol
; 25(4): 274-81, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24977977
16.
Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study.
Lancet
; 381(9874): 1293-301, 2013 Apr 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-23433573
17.
Mutation detection in Croatian patients with familial hypercholesterolemia.
Ann Hum Genet
; 77(1): 22-30, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23130880
18.
Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia.
J Med Genet
; 49(10): 644-9, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23054246
19.
Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data.
medRxiv
; 2023 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38196618
20.
LDL-C Concentrations and the 12-SNP LDL-C Score for Polygenic Hypercholesterolaemia in Self-Reported South Asian, Black and Caribbean Participants of the UK Biobank.
Front Genet
; 13: 845498, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35432461