Detalhe da pesquisa
1.
Loss-of-Function CREB3L3 Variants in Patients With Severe Hypertriglyceridemia.
Arterioscler Thromb Vasc Biol
; 40(8): 1935-1941, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32580631
2.
Enrichment of loss-of-function and copy number variants in ventricular cardiomyopathy genes in 'lone' atrial fibrillation.
Europace
; 23(6): 844-850, 2021 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33682005
3.
Partial LPL deletions: rare copy-number variants contributing towards severe hypertriglyceridemia.
J Lipid Res
; 60(11): 1953-1958, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31519763
4.
Genetic Variation in the Ontario Neurodegenerative Disease Research Initiative.
Can J Neurol Sci
; 46(5): 491-498, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31217043
5.
Complex genetic architecture in severe hypobetalipoproteinemia.
Lipids Health Dis
; 17(1): 48, 2018 Mar 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-29540175
6.
Use of next-generation sequencing to detect LDLR gene copy number variation in familial hypercholesterolemia.
J Lipid Res
; 58(11): 2202-2209, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28874442
7.
Polygenic determinants in extremes of high-density lipoprotein cholesterol.
J Lipid Res
; 58(11): 2162-2170, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28870971
8.
The apolipoprotein C-III (Gln38Lys) variant associated with human hypertriglyceridemia is a gain-of-function mutation.
J Lipid Res
; 58(11): 2188-2196, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28887372
9.
Defective KIM-1 phagocytosis does not predispose to acute graft dysfunction after kidney transplantation in humans.
Kidney Int
; 102(2): 435-439, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35636639
10.
Polygenic Versus Monogenic Causes of Hypercholesterolemia Ascertained Clinically.
Arterioscler Thromb Vasc Biol
; 36(12): 2439-2445, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27765764
11.
Apolipoprotein B and PNPLA3 Double Heterozygosity in a Father-Son Pair With Advanced Nonalcoholic Fatty Liver Disease.
Hepatology
; 71(1): 383-385, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31343751
12.
G-protein estrogen receptor as a regulator of low-density lipoprotein cholesterol metabolism: cellular and population genetic studies.
Arterioscler Thromb Vasc Biol
; 35(1): 213-21, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25395619
13.
Targeted next-generation sequencing in monogenic dyslipidemias.
Curr Opin Lipidol
; 26(2): 103-13, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25692347
14.
Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase 1.
Am J Hum Genet
; 90(1): 49-60, 2012 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-22226083
15.
Congenital sucrase-isomaltase deficiency: identification of a common Inuit founder mutation.
CMAJ
; 187(2): 102-107, 2015 Feb 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-25452324
16.
LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias.
J Lipid Res
; 55(4): 765-72, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24503134
17.
Bioinformatic detection of copy number variation in HNF4A causing maturity onset diabetes of the young.
Clin Genet
; 96(4): 376-377, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31309534
18.
A common hypofunctional genetic variant of GPER is associated with increased blood pressure in women.
Br J Clin Pharmacol
; 78(6): 1441-52, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25039431
19.
A novel MC4R mutation associated with childhood-onset obesity: A case report.
Paediatr Child Health
; 19(10): 515-8, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25587224
20.
Lipoprotein(a) in Familial Hypercholesterolemia.
CJC Open
; 6(1): 40-46, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38313344