Detalhe da pesquisa
1.
Unit Sales Trends of Hip Arthroplasty Procedures Performed in Ontario in 2020.
J Arthroplasty
; 37(7S): S413-S415.e1, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35277309
2.
Evidence of synergism among three genetic variants in a patient with LMNA-related lipodystrophy and amyotrophic lateral sclerosis leading to a remarkable nuclear phenotype.
Mol Cell Biochem
; 476(7): 2633-2650, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-33661429
3.
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
4.
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
5.
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
6.
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
7.
Pseudotumors and High-Grade Aseptic Lymphocyte-Dominated Vasculitis-Associated Lesions Around Total Knee Replacements Identified at Aseptic Revision Surgery: Findings of a Large-Scale Histologic Review.
J Arthroplasty
; 34(10): 2434-2438, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31178384
8.
Complex genetic architecture in severe hypobetalipoproteinemia.
Lipids Health Dis
; 17(1): 48, 2018 Mar 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-29540175
9.
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
10.
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
11.
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
12.
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
13.
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
14.
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
15.
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
16.
Targeted next-generation sequencing in monogenic dyslipidemias.
Curr Opin Lipidol
; 26(2): 103-13, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25692347
17.
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
18.
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
19.
Severe Hypertriglyceridemia due to a novel p.Q240H mutation in the Lipoprotein Lipase gene.
Lipids Health Dis
; 14: 102, 2015 Sep 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26337181
20.
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