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Items: 1 to 20 of 762

1.

Familial hypercholesterolaemia.

Defesche JC, Gidding SS, Harada-Shiba M, Hegele RA, Santos RD, Wierzbicki AS.

Nat Rev Dis Primers. 2017 Dec 7;3:17093. doi: 10.1038/nrdp.2017.93. Review.

PMID:
29219151
2.

Food Effect on Rosuvastatin Disposition and Low-Density Lipoprotein Cholesterol.

McLean CC, Teft WA, Morse BL, Gryn SE, Hegele RA, Kim RB.

Clin Pharmacol Ther. 2017 Dec 8. doi: 10.1002/cpt.973. [Epub ahead of print]

PMID:
29218707
3.

The association between hypercholesterolemia and sitosterolemia, and report of a sitosterolemia kindred.

Brinton EA, Hopkins PN, Hegele RA, Geller AS, Polisecki EY, Diffenderfer MR, Schaefer EJ.

J Clin Lipidol. 2017 Oct 27. pii: S1933-2874(17)30473-7. doi: 10.1016/j.jacl.2017.10.013. [Epub ahead of print]

PMID:
29169939
4.

Predicting the atopic march: Results from the Canadian Healthy Infant Longitudinal Development Study.

Tran MM, Lefebvre DL, Dharma C, Dai D, Lou WYW, Subbarao P, Becker AB, Mandhane PJ, Turvey SE, Sears MR; Canadian Healthy Infant Longitudinal Development Study investigators.

J Allergy Clin Immunol. 2017 Nov 1. pii: S0091-6749(17)31480-X. doi: 10.1016/j.jaci.2017.08.024. [Epub ahead of print]

PMID:
29153857
5.

Modes of Infant Feeding and the Risk of Childhood Asthma: A Prospective Birth Cohort Study.

Klopp A, Vehling L, Becker AB, Subbarao P, Mandhane PJ, Turvey SE, Lefebvre DL, Sears MR; CHILD Study Investigators, Azad MB.

J Pediatr. 2017 Nov;190:192-199.e2. doi: 10.1016/j.jpeds.2017.07.012.

PMID:
29144244
6.

OPTN p.Met468Arg and ATXN2 intermediate length polyQ extension in families with C9orf72 mediated amyotrophic lateral sclerosis and frontotemporal dementia.

Farhan SMK, Gendron TF, Petrucelli L, Hegele RA, Strong MJ.

Am J Med Genet B Neuropsychiatr Genet. 2018 Jan;177(1):75-85. doi: 10.1002/ajmg.b.32606. Epub 2017 Oct 28.

PMID:
29080331
7.

Imputation of Baseline LDL Cholesterol Concentration in Patients with Familial Hypercholesterolemia on Statins or Ezetimibe.

Ruel I, Aljenedil S, Sadri I, de Varennes É, Hegele RA, Couture P, Bergeron J, Wanneh E, Baass A, Dufour R, Gaudet D, Brisson D, Brunham LR, Francis GA, Cermakova L, Brophy JM, Ryomoto A, Mancini GBJ, Genest J.

Clin Chem. 2017 Oct 16. pii: clinchem.2017.279422. doi: 10.1373/clinchem.2017.279422. [Epub ahead of print]

PMID:
29038147
8.

Cesarean Section, Formula Feeding, and Infant Antibiotic Exposure: Separate and Combined Impacts on Gut Microbial Changes in Later Infancy.

Yasmin F, Tun HM, Konya TB, Guttman DS, Chari RS, Field CJ, Becker AB, Mandhane PJ, Turvey SE, Subbarao P, Sears MR; CHILD Study Investigators, Scott JA, Dinu I, Kozyrskyj AL.

Front Pediatr. 2017 Sep 26;5:200. doi: 10.3389/fped.2017.00200. eCollection 2017.

9.

Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy.

Farhan SMK, Nixon KCJ, Everest M, Edwards TN, Long S, Segal D, Knip MJ, Arts HH, Chakrabarti R, Wang J, Robinson JF, Lee D, Mirsattari SM, Rupar CA, Siu VM; FORGE Canada Consortium, Poulter MO, Hegele RA, Kramer JM.

Hum Mol Genet. 2017 Nov 1;26(21):4278-4289. doi: 10.1093/hmg/ddx316.

PMID:
28973161
10.

ARHGEF28 p.Lys280Metfs40Ter in an amyotrophic lateral sclerosis family with a C9orf72 expansion.

Farhan SMK, Gendron TF, Petrucelli L, Hegele RA, Strong MJ.

Neurol Genet. 2017 Sep 22;3(5):e190. doi: 10.1212/NXG.0000000000000190. eCollection 2017 Oct. No abstract available.

11.

Recent Advances in the Genetics of Atherothrombotic Disease and Its Determinants.

Dron JS, Ho R, Hegele RA.

Arterioscler Thromb Vasc Biol. 2017 Oct;37(10):e158-e166. doi: 10.1161/ATVBAHA.117.309934. Review. No abstract available.

PMID:
28954809
12.

CETP Inhibitors - A New Inning?

Hegele RA.

N Engl J Med. 2017 Sep 28;377(13):1284-1285. doi: 10.1056/NEJMe1711407. No abstract available.

PMID:
28953440
13.

Targeting Host Cell Surface Nucleolin for RSV Therapy: Challenges and Opportunities.

Mastrangelo P, Norris MJ, Duan W, Barrett EG, Moraes TJ, Hegele RG.

Vaccines (Basel). 2017 Sep 19;5(3). pii: E27. doi: 10.3390/vaccines5030027.

14.

The apolipoprotein C-III (Gln38Lys) variant associated with human hypertriglyceridemia is a gain-of-function mutation.

Sundaram M, Curtis KR, Amir Alipour M, LeBlond ND, Margison KD, Yaworski RA, Parks RJ, McIntyre AD, Hegele RA, Fullerton MD, Yao Z.

J Lipid Res. 2017 Nov;58(11):2188-2196. doi: 10.1194/jlr.M077313. Epub 2017 Sep 8.

PMID:
28887372
15.

Use of next-generation sequencing to detect LDLR gene copy number variation in familial hypercholesterolemia.

Iacocca MA, Wang J, Dron JS, Robinson JF, McIntyre AD, Cao H, Hegele RA.

J Lipid Res. 2017 Nov;58(11):2202-2209. doi: 10.1194/jlr.D079301. Epub 2017 Sep 5.

16.

Polygenic determinants in extremes of high-density lipoprotein cholesterol.

Dron JS, Wang J, Low-Kam C, Khetarpal SA, Robinson JF, McIntyre AD, Ban MR, Cao H, Rhainds D, Dubé MP, Rader DJ, Lettre G, Tardif JC, Hegele RA.

J Lipid Res. 2017 Nov;58(11):2162-2170. doi: 10.1194/jlr.M079822. Epub 2017 Sep 4.

17.

Clinical Validation of Copy Number Variant Detection from Targeted Next-Generation Sequencing Panels.

Kerkhof J, Schenkel LC, Reilly J, McRobbie S, Aref-Eshghi E, Stuart A, Rupar CA, Adams P, Hegele RA, Lin H, Rodenhiser D, Knoll J, Ainsworth PJ, Sadikovic B.

J Mol Diagn. 2017 Nov;19(6):905-920. doi: 10.1016/j.jmoldx.2017.07.004. Epub 2017 Aug 15.

PMID:
28818680
18.

HDL and atherosclerotic cardiovascular disease: genetic insights into complex biology.

Rosenson RS, Brewer HB Jr, Barter PJ, Björkegren JLM, Chapman MJ, Gaudet D, Kim DS, Niesor E, Rye KA, Sacks FM, Tardif JC, Hegele RA.

Nat Rev Cardiol. 2018 Jan;15(1):9-19. doi: 10.1038/nrcardio.2017.115. Epub 2017 Aug 10. Review.

PMID:
28795686
19.

Tools for Enhancement and Quality Improvement of Peer Assessment and Clinical Care in Endocrinology and Metabolism.

Khan A, Kenshole A, Ezzat S, Goguen J, Gomez-Hernandez K, Hegele RA, Houlden R, Joy T, Keely E, Killinger D, Lacroix A, Laredo S, Prebtani APH, Shrayyef MZ, Tran C, Van Uum S, Reardon R, Papageorgiou A, Tays W, Edmonds M.

J Clin Densitom. 2017 Jul 21. pii: S1094-6950(17)30073-2. doi: 10.1016/j.jocd.2017.05.011. [Epub ahead of print] Review.

PMID:
28739080
20.

Polygenic Risk for Hypertriglyceridemia Can Mimic a Major Monogenic Mutation.

Stahel P, Xiao C, Hegele RA, Lewis GF.

Ann Intern Med. 2017 Sep 5;167(5):360-361. doi: 10.7326/L17-0182. Epub 2017 Jul 25. No abstract available.

PMID:
28738411

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