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Items: 1 to 50 of 741

1.

Can one overcome "unhealthy genes"?

Lazarte J, Hegele RA.

NPJ Genom Med. 2019 Oct 2;4:24. doi: 10.1038/s41525-019-0099-2. eCollection 2019. No abstract available.

PMID:
31602315
2.

Rare dyslipidaemias, from phenotype to genotype to management: a European Atherosclerosis Society task force consensus statement.

Hegele RA, Borén J, Ginsberg HN, Arca M, Averna M, Binder CJ, Calabresi L, Chapman MJ, Cuchel M, von Eckardstein A, Frikke-Schmidt R, Gaudet D, Hovingh GK, Kronenberg F, Lütjohann D, Parhofer KG, Raal FJ, Ray KK, Remaley AT, Stock JK, Stroes ES, Tokgözoğlu L, Catapano AL.

Lancet Diabetes Endocrinol. 2019 Sep 30. pii: S2213-8587(19)30264-5. doi: 10.1016/S2213-8587(19)30264-5. [Epub ahead of print] Review.

PMID:
31582260
3.

Ischemic Event Reduction and Triglycerides.

Dron JS, Hegele RA.

J Am Coll Cardiol. 2019 Oct 8;74(14):1848-1849. doi: 10.1016/j.jacc.2019.04.071. No abstract available.

PMID:
31582149
4.

Genetic and epigenetic study of an Alzheimer's disease family with monozygotic triplets.

Zhang M, Dilliott AA, Khallaf R, Robinson JF, Hegele RA, Comishen M, Sato C, Tosto G, Reitz C, Mayeux R, George-Hyslop PS, Freedman M, Rogaeva E.

Brain. 2019 Oct 3. pii: awz289. doi: 10.1093/brain/awz289. [Epub ahead of print]

PMID:
31580390
5.

Severe Combined Dyslipidemia With a Complex Genetic Basis.

Le R, Abbas M, McIntyre AD, Hegele RA.

J Investig Med High Impact Case Rep. 2019 Jan-Dec;7:2324709619877050. doi: 10.1177/2324709619877050.

6.

Research digest: observing risks and benefits of diet and supplements.

Hegele RA.

Lancet Diabetes Endocrinol. 2019 Oct;7(10):752. doi: 10.1016/S2213-8587(19)30290-6. Epub 2019 Sep 3. No abstract available.

PMID:
31535617
7.

Dyslipidemia Management in Adults With Diabetes.

Lazarte J, Hegele RA.

Can J Diabetes. 2019 Jul 12. pii: S1499-2671(19)30373-9. doi: 10.1016/j.jcjd.2019.07.003. [Epub ahead of print] Review.

PMID:
31521544
8.

Partial LPL deletions: rare copy-number variants contributing towards the polygenic form of severe hypertriglyceridemia.

Dron JS, Wang J, McIntyre AD, Cao H, Robinson JF, Duell B, Manjoo P, Feng J, Movsesyan I, Malloy MJ, Pullinger CR, Kane J, Hegele RA.

J Lipid Res. 2019 Sep 13. pii: jlr.P119000335. doi: 10.1194/jlr.P119000335. [Epub ahead of print]

9.

Practical definitions of severe versus familial hypercholesterolaemia and hypertriglyceridaemia for adult clinical practice.

Garg A, Garg V, Hegele RA, Lewis GF.

Lancet Diabetes Endocrinol. 2019 Aug 21. pii: S2213-8587(19)30156-1. doi: 10.1016/S2213-8587(19)30156-1. [Epub ahead of print] Review.

PMID:
31445954
10.

Targeted sequencing reveals expanded genetic diversity of human transfer RNAs.

Berg MD, Giguere DJ, Dron JS, Lant JT, Genereaux J, Liao C, Wang J, Robinson JF, Gloor GB, Hegele RA, O'Donoghue P, Brandl CJ.

RNA Biol. 2019 Nov;16(11):1574-1585. doi: 10.1080/15476286.2019.1646079. Epub 2019 Aug 13.

PMID:
31407949
11.

Apolipoprotein B and PNPLA3 Double Heterozygosity in a Father-Son Pair With Advanced Nonalcoholic Fatty Liver Disease.

Jansson-Knodell CL, Gawrieh S, McIntyre AD, Liang T, Hegele RA, Chalasani N.

Hepatology. 2019 Jul 25. doi: 10.1002/hep.30874. [Epub ahead of print] No abstract available.

PMID:
31343751
12.

Research digest: seeking new lipid drug targets.

Hegele RA.

Lancet Diabetes Endocrinol. 2019 Aug;7(8):594. doi: 10.1016/S2213-8587(19)30225-6. No abstract available.

PMID:
31324303
13.

Bioinformatic detection of copy number variation in HNF4A causing maturity onset diabetes of the young.

Berberich AJ, Mokashi A, McIntyre AD, Robinson JF, Cao H, Wang J, Hegele RA.

Clin Genet. 2019 Oct;96(4):376-377. doi: 10.1111/cge.13599. Epub 2019 Jul 15. No abstract available.

PMID:
31309534
14.

Ankyrin-B dysfunction predisposes to arrhythmogenic cardiomyopathy and is amenable to therapy.

Roberts JD, Murphy NP, Hamilton RM, Lubbers ER, James CA, Kline CF, Gollob MH, Krahn AD, Sturm AC, Musa H, El-Refaey M, Koenig S, Aneq MÅ, Hoorntje ET, Graw SL, Davies RW, Rafiq MA, Koopmann TT, Aafaqi S, Fatah M, Chiasson DA, Taylor MR, Simmons SL, Han M, van Opbergen CJ, Wold LE, Sinagra G, Mittal K, Tichnell C, Murray B, Codima A, Nazer B, Nguyen DT, Marcus FI, Sobriera N, Lodder EM, van den Berg MP, Spears DA, Robinson JF, Ursell PC, Green AK, Skanes AC, Tang AS, Gardner MJ, Hegele RA, van Veen TA, Wilde AA, Healey JS, Janssen PM, Mestroni L, van Tintelen JP, Calkins H, Judge DP, Hund TJ, Scheinman MM, Mohler PJ.

J Clin Invest. 2019 Jul 2;129(8):3171-3184. doi: 10.1172/JCI125538. eCollection 2019 Jul 2.

15.

Genetic Variation in the Ontario Neurodegenerative Disease Research Initiative.

Dilliott AA, Evans EC, Farhan SMK, Ghani M, Sato C, Zhang M, McIntyre AD, Cao H, Racacho L, Robinson JF, Strong MJ, Masellis M, Bulman DE, Rogaeva E, Black SE, Finger E, Frank A, Freedman M, Hassan A, Lang A, Shoesmith CL, Swartz RH, Tang-Wai D, Tartaglia MC, Turnbull J, Zinman L; ONDRI Investigators, Hegele RA.

Can J Neurol Sci. 2019 Sep;46(5):491-498. doi: 10.1017/cjn.2019.228. Epub 2019 Aug 15.

PMID:
31217043
16.

Targeted next generation sequencing as a tool for precision medicine.

Gulilat M, Lamb T, Teft WA, Wang J, Dron JS, Robinson JF, Tirona RG, Hegele RA, Kim RB, Schwarz UI.

BMC Med Genomics. 2019 Jun 3;12(1):81. doi: 10.1186/s12920-019-0527-2.

17.

Low LDL cholesterol-Friend or foe?

Hartz J, Hegele RA, Wilson DP.

J Clin Lipidol. 2019 May - Jun;13(3):367-373. doi: 10.1016/j.jacl.2019.05.006. Epub 2019 May 16. No abstract available.

PMID:
31130490
18.

The utility of multivariate outlier detection techniques for data quality evaluation in large studies: an application within the ONDRI project.

Sunderland KM, Beaton D, Fraser J, Kwan D, McLaughlin PM, Montero-Odasso M, Peltsch AJ, Pieruccini-Faria F, Sahlas DJ, Swartz RH; ONDRI Investigators, Strother SC, Binns MA.

BMC Med Res Methodol. 2019 May 15;19(1):102. doi: 10.1186/s12874-019-0737-5.

19.

Conservative management in hypertriglyceridemia-associated pancreatitis.

Berberich AJ, Ziada A, Zou GY, Hegele RA.

J Intern Med. 2019 May 11. doi: 10.1111/joim.12925. [Epub ahead of print]

PMID:
31077464
20.

Atypical familial dysbetalipoproteinemia associated with high polygenic cholesterol and triglyceride scores treated with ezetimibe and evolocumab.

Morise AP, Hegele RA.

J Clin Lipidol. 2019 May - Jun;13(3):411-414. doi: 10.1016/j.jacl.2019.02.006. Epub 2019 Mar 6.

PMID:
30930000
21.

Copy Number Variation in GCK in Patients With Maturity-Onset Diabetes of the Young.

Berberich AJ, Huot C, Cao H, McIntyre AD, Robinson JF, Wang J, Hegele RA.

J Clin Endocrinol Metab. 2019 Aug 1;104(8):3428-3436. doi: 10.1210/jc.2018-02574.

PMID:
30912798
22.

A Single-dose, Comparative Bioavailability Study of a Formulation containing OM3 as Phospholipid and Free Fatty Acid to an Ethyl Ester Formulation in the Fasting and Fed States.

Lapointe JF, Harvey L, Aziz S, Jordan H, Hegele RA, Lemieux P.

Clin Ther. 2019 Mar;41(3):426-444. doi: 10.1016/j.clinthera.2019.01.017. Epub 2019 Feb 22.

23.

Ambroxol as a novel disease-modifying treatment for Parkinson's disease dementia: protocol for a single-centre, randomized, double-blind, placebo-controlled trial.

Silveira CRA, MacKinley J, Coleman K, Li Z, Finger E, Bartha R, Morrow SA, Wells J, Borrie M, Tirona RG, Rupar CA, Zou G, Hegele RA, Mahuran D, MacDonald P, Jenkins ME, Jog M, Pasternak SH.

BMC Neurol. 2019 Feb 9;19(1):20. doi: 10.1186/s12883-019-1252-3.

24.

Lipid-Lowering Agents.

Hegele RA, Tsimikas S.

Circ Res. 2019 Feb;124(3):386-404. doi: 10.1161/CIRCRESAHA.118.313171.

PMID:
30702996
25.

Cholesterol-Lowering Agents.

Rosenson RS, Hegele RA, Koenig W.

Circ Res. 2019 Feb;124(3):364-385. doi: 10.1161/CIRCRESAHA.118.313238.

PMID:
30702994
26.

The evolution of genetic-based risk scores for lipids and cardiovascular disease.

Dron JS, Hegele RA.

Curr Opin Lipidol. 2019 Apr;30(2):71-81. doi: 10.1097/MOL.0000000000000576.

PMID:
30676533
27.

Editorial: designing targeted sequencing panels for dyslipidemia.

Hegele RA.

Curr Opin Lipidol. 2019 Apr;30(2):53-55. doi: 10.1097/MOL.0000000000000579. No abstract available.

PMID:
30664017
28.

Progress in finding pathogenic DNA copy number variations in dyslipidemia.

Iacocca MA, Dron JS, Hegele RA.

Curr Opin Lipidol. 2019 Apr;30(2):63-70. doi: 10.1097/MOL.0000000000000581.

PMID:
30664016
29.

Chylomicronemia: Differences between familial chylomicronemia syndrome and multifactorial chylomicronemia.

Paquette M, Bernard S, Hegele RA, Baass A.

Atherosclerosis. 2019 Apr;283:137-142. doi: 10.1016/j.atherosclerosis.2018.12.019. Epub 2018 Dec 28.

PMID:
30655019
30.

Cannabis effects on lipoproteins.

Lazarte J, Hegele RA.

Curr Opin Lipidol. 2019 Apr;30(2):140-146. doi: 10.1097/MOL.0000000000000575.

PMID:
30649023
31.

Cholesterol Lowering and Prevention of Stroke.

Hackam DG, Hegele RA.

Stroke. 2019 Feb;50(2):537-541. doi: 10.1161/STROKEAHA.118.023167. No abstract available.

PMID:
30602355
32.

Update on the diagnosis, treatment and management of rare genetic lipid disorders.

Ng DM, Burnett JR, Bell DA, Hegele RA, Hooper AJ.

Pathology. 2019 Feb;51(2):193-201. doi: 10.1016/j.pathol.2018.11.005. Epub 2018 Dec 28. Review.

PMID:
30598327
33.

Lipids and cardiovascular disease.

Burnett JR, Hooper AJ, Hegele RA.

Pathology. 2019 Feb;51(2):129-130. doi: 10.1016/j.pathol.2018.12.001. Epub 2018 Dec 27. No abstract available.

PMID:
30595506
34.

Whole-exome sequencing identifies a novel IHH insertion in an Ontario family with brachydactyly type A1.

Ho R, McIntyre AD, Kennedy BA, Hegele RA.

SAGE Open Med Case Rep. 2018 Dec 10;6:2050313X18818711. doi: 10.1177/2050313X18818711. eCollection 2018.

35.

The role of genetic testing in dyslipidaemia.

Berberich AJ, Hegele RA.

Pathology. 2019 Feb;51(2):184-192. doi: 10.1016/j.pathol.2018.10.014. Epub 2018 Dec 14. Review.

36.

Canadian Cardiovascular Society Position Statement on Familial Hypercholesterolemia: Update 2018.

Brunham LR, Ruel I, Aljenedil S, Rivière JB, Baass A, Tu JV, Mancini GBJ, Raggi P, Gupta M, Couture P, Pearson GJ, Bergeron J, Francis GA, McCrindle BW, Morrison K, St-Pierre J, Henderson M, Hegele RA, Genest J, Goguen J, Gaudet D, Paré G, Romney J, Ransom T, Bernard S, Katz P, Joy TR, Bewick D, Brophy J.

Can J Cardiol. 2018 Dec;34(12):1553-1563. doi: 10.1016/j.cjca.2018.09.005.

PMID:
30527143
37.

GPIHBP1 autoantibody syndrome during interferon β1a treatment.

Eguchi J, Miyashita K, Fukamachi I, Nakajima K, Murakami M, Kawahara Y, Yamashita T, Ohta Y, Abe K, Nakatsuka A, Mino M, Takase S, Okazaki H, Hegele RA, Ploug M, Hu X, Wada J, Young SG, Beigneux AP.

J Clin Lipidol. 2019 Jan - Feb;13(1):62-69. doi: 10.1016/j.jacl.2018.10.004. Epub 2018 Oct 24.

38.

Severe hypertriglyceridemia is primarily polygenic.

Dron JS, Wang J, Cao H, McIntyre AD, Iacocca MA, Menard JR, Movsesyan I, Malloy MJ, Pullinger CR, Kane JP, Hegele RA.

J Clin Lipidol. 2019 Jan - Feb;13(1):80-88. doi: 10.1016/j.jacl.2018.10.006. Epub 2018 Oct 24.

39.

Variants at the APOE /C1/C2/C4 Locus Modulate Cholesterol Efflux Capacity Independently of High-Density Lipoprotein Cholesterol.

Low-Kam C, Rhainds D, Lo KS, Barhdadi A, Boulé M, Alem S, Pedneault-Gagnon V, Rhéaume E, Dubé MP, Busseuil D, Hegele RA, Lettre G, Tardif JC.

J Am Heart Assoc. 2018 Aug 21;7(16):e009545. doi: 10.1161/JAHA.118.009545.

40.

A Young Male with Parafibromin-Deficient Parathyroid Carcinoma Due to a Rare Germline HRPT2/CDC73 Mutation.

Kapur A, Singh N, Mete O, Hegele RA, Fantus IG.

Endocr Pathol. 2018 Dec;29(4):374-379. doi: 10.1007/s12022-018-9552-5.

PMID:
30361844
41.

Abetalipoproteinemia.

Burnett JR, Hooper AJ, Hegele RA.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2018 Oct 25.

42.

Recent Highlights of ATVB.

Dron JS, Lazarte J, Hegele RA.

Arterioscler Thromb Vasc Biol. 2018 Nov;38(11):e185-e197. doi: 10.1161/ATVBAHA.118.311581. Review. No abstract available.

PMID:
30354244
43.

Reporting Sex and Sex Differences in Preclinical Studies.

Lu HS, Schmidt AM, Hegele RA, Mackman N, Rader DJ, Weber C, Daugherty A.

Arterioscler Thromb Vasc Biol. 2018 Oct;38(10):e171-e184. doi: 10.1161/ATVBAHA.118.311717. No abstract available.

44.

Extreme hypertriglyceridemia: Genetic diversity, pancreatitis, pregnancy, and prevalence.

Chyzhyk V, Kozmic S, Brown AS, Hudgins LC, Starc TJ, Davila AD, Blevins TC, Diffenderfer MR, He L, Geller AS, Rush C, Hegele RA, Schaefer EJ.

J Clin Lipidol. 2019 Jan - Feb;13(1):89-99. doi: 10.1016/j.jacl.2018.09.007. Epub 2018 Sep 18.

PMID:
30352774
45.

Genetic and secondary causes of severe HDL deficiency and cardiovascular disease.

Geller AS, Polisecki EY, Diffenderfer MR, Asztalos BF, Karathanasis SK, Hegele RA, Schaefer EJ.

J Lipid Res. 2018 Dec;59(12):2421-2435. doi: 10.1194/jlr.M088203. Epub 2018 Oct 17.

PMID:
30333156
46.

ClinVar database of global familial hypercholesterolemia-associated DNA variants.

Iacocca MA, Chora JR, Carrié A, Freiberger T, Leigh SE, Defesche JC, Kurtz CL, DiStefano MT, Santos RD, Humphries SE, Mata P, Jannes CE, Hooper AJ, Wilemon KA, Benlian P, O'Connor R, Garcia J, Wand H, Tichy L, Sijbrands EJ, Hegele RA, Bourbon M, Knowles JW; ClinGen FH Variant Curation Expert Panel.

Hum Mutat. 2018 Nov;39(11):1631-1640. doi: 10.1002/humu.23634.

PMID:
30311388
47.

Multiple Symmetric Lipomatosis (Madelung Disease) in a Large Canadian Family With the Mitochondrial MTTK c.8344A>G Variant.

Perera U, Kennedy BA, Hegele RA.

J Investig Med High Impact Case Rep. 2018 Sep 29;6:2324709618802867. doi: 10.1177/2324709618802867. eCollection 2018 Jan-Dec.

48.

Complex effects of laminopathy mutations on nuclear structure and function.

Ho R, Hegele RA.

Clin Genet. 2019 Feb;95(2):199-209. doi: 10.1111/cge.13455. Epub 2018 Oct 23. Review.

PMID:
30280378
49.

Familial hypercholesterolemia in Canada: Initial results from the FH Canada national registry.

Brunham LR, Ruel I, Khoury E, Hegele RA, Couture P, Bergeron J, Baass A, Dufour R, Francis GA, Cermakova L, Mancini GBJ, Brophy JM, Brisson D, Gaudet D, Genest J.

Atherosclerosis. 2018 Oct;277:419-424. doi: 10.1016/j.atherosclerosis.2018.05.040.

PMID:
30270080
50.

Unusual genetic variants associated with hypercholesterolemia in Argentina.

Corral P, Geller AS, Polisecki EY, Lopez GI, Bañares VG, Cacciagiu L, Berg G, Hegele RA, Schaefer EJ, Schreier LE.

Atherosclerosis. 2018 Oct;277:256-261. doi: 10.1016/j.atherosclerosis.2018.06.009.

PMID:
30270055

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