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Items: 1 to 20 of 163

1.

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.

2.

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.

3.

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.

4.

Motor Phenotype in Neurodegenerative Disorders: Gait and Balance Platform Study Design Protocol for the Ontario Neurodegenerative Research Initiative (ONDRI).

Montero-Odasso M, Pieruccini-Faria F, Bartha R, Black SE, Finger E, Freedman M, Greenberg B, Grimes DA, Hegele RA, Hudson C, Kleinstiver PW, Lang AE, Masellis M, McLaughlin PM, Munoz DP, Strother S, Swartz RH, Symons S, Tartaglia MC, Zinman L, Strong MJ; ONDRI Investigators, McIlroy W.

J Alzheimers Dis. 2017;59(2):707-721. doi: 10.3233/JAD-170149.

5.

Genetics of Triglycerides and the Risk of Atherosclerosis.

Dron JS, Hegele RA.

Curr Atheroscler Rep. 2017 Jul;19(7):31. doi: 10.1007/s11883-017-0667-9. Review.

6.

Atypical Presentation and Treatment Response in a Child with Familial Hypercholesterolemia Having a Novel LDLR Mutation.

Varma S, McIntyre AD, Hegele RA.

JIMD Rep. 2017;35:67-70. doi: 10.1007/8904_2016_29. Epub 2016 Dec 9.

7.

Multidimensional regulation of lipoprotein lipase: impact on biochemical and cardiovascular phenotypes.

Hegele RA.

J Lipid Res. 2016 Sep;57(9):1601-7. doi: 10.1194/jlr.C070946. Epub 2016 Jul 13. No abstract available.

8.

Targeted exonic sequencing of GWAS loci in the high extremes of the plasma lipids distribution.

Patel AP, Peloso GM, Pirruccello JP, Johansen CT, Dubé JB, Larach DB, Ban MR, Dallinge-Thie GM, Gupta N, Boehnke M, Abecasis GR, Kastelein JJ, Hovingh GK, Hegele RA, Rader DJ, Kathiresan S.

Atherosclerosis. 2016 Jul;250:63-8. doi: 10.1016/j.atherosclerosis.2016.04.011. Epub 2016 Apr 23.

9.

A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome.

Oud MM, Bonnard C, Mans DA, Altunoglu U, Tohari S, Ng AYJ, Eskin A, Lee H, Rupar CA, de Wagenaar NP, Wu KM, Lahiry P, Pazour GJ, Nelson SF, Hegele RA, Roepman R, Kayserili H, Venkatesh B, Siu VM, Reversade B, Arts HH.

Cilia. 2016 Apr 11;5:8. doi: 10.1186/s13630-016-0029-1. eCollection 2016.

10.

Statin Safety in Chinese: A Population-Based Study of Older Adults.

Li DQ, Kim RB, McArthur E, Fleet JL, Hegele RA, Shah BR, Weir MA, Molnar AO, Dixon S, Tu JV, Anand S, Garg AX.

PLoS One. 2016 Mar 8;11(3):e0150990. doi: 10.1371/journal.pone.0150990. eCollection 2016.

11.

Genetics of Lipid and Lipoprotein Disorders and Traits.

Dron JS, Hegele RA.

Curr Genet Med Rep. 2016;4(3):130-141. doi: 10.1007/s40142-016-0097-y. Epub 2016 Jun 7. Review.

12.

Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8.

Boycott KM, Beaulieu CL, Kernohan KD, Gebril OH, Mhanni A, Chudley AE, Redl D, Qin W, Hampson S, Küry S, Tetreault M, Puffenberger EG, Scott JN, Bezieau S, Reis A, Uebe S, Schumacher J, Hegele RA, McLeod DR, Gálvez-Peralta M, Majewski J, Ramaekers VT; Care4Rare Canada Consortium, Nebert DW, Innes AM, Parboosingh JS, Abou Jamra R.

Am J Hum Genet. 2015 Dec 3;97(6):886-93. doi: 10.1016/j.ajhg.2015.11.002.

13.

Nonstatin Low-Density Lipoprotein-Lowering Therapy and Cardiovascular Risk Reduction-Statement From ATVB Council.

Hegele RA, Gidding SS, Ginsberg HN, McPherson R, Raal FJ, Rader DJ, Robinson JG, Welty FK.

Arterioscler Thromb Vasc Biol. 2015 Nov;35(11):2269-80. doi: 10.1161/ATVBAHA.115.306442. Epub 2015 Sep 16. Review.

14.

Microsomal Triglyceride Transfer Protein Transfers and Determines Plasma Concentrations of Ceramide and Sphingomyelin but Not Glycosylceramide.

Iqbal J, Walsh MT, Hammad SM, Cuchel M, Tarugi P, Hegele RA, Davidson NO, Rader DJ, Klein RL, Hussain MM.

J Biol Chem. 2015 Oct 23;290(43):25863-75. doi: 10.1074/jbc.M115.659110. Epub 2015 Sep 8.

15.

Severe Hypertriglyceridemia due to a novel p.Q240H mutation in the Lipoprotein Lipase gene.

Soto AG, McIntyre A, Agrawal S, Bialo SR, Hegele RA, Boney CM.

Lipids Health Dis. 2015 Sep 4;14:102. doi: 10.1186/s12944-015-0107-1.

16.

Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies.

Loucks CM, Parboosingh JS, Shaheen R, Bernier FP, McLeod DR, Seidahmed MZ, Puffenberger EG, Ober C, Hegele RA, Boycott KM, Alkuraya FS, Innes AM.

Hum Mutat. 2015 Oct;36(10):1015-9. doi: 10.1002/humu.22843. Epub 2015 Aug 17.

17.

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.

Wheway G, Schmidts M, Mans DA, Szymanska K, Nguyen TT, Racher H, Phelps IG, Toedt G, Kennedy J, Wunderlich KA, Sorusch N, Abdelhamed ZA, Natarajan S, Herridge W, van Reeuwijk J, Horn N, Boldt K, Parry DA, Letteboer SJF, Roosing S, Adams M, Bell SM, Bond J, Higgins J, Morrison EE, Tomlinson DC, Slaats GG, van Dam TJP, Huang L, Kessler K, Giessl A, Logan CV, Boyle EA, Shendure J, Anazi S, Aldahmesh M, Al Hazzaa S, Hegele RA, Ober C, Frosk P, Mhanni AA, Chodirker BN, Chudley AE, Lamont R, Bernier FP, Beaulieu CL, Gordon P, Pon RT, Donahue C, Barkovich AJ, Wolf L, Toomes C, Thiel CT, Boycott KM, McKibbin M, Inglehearn CF; UK10K Consortium; University of Washington Center for Mendelian Genomics, Stewart F, Omran H, Huynen MA, Sergouniotis PI, Alkuraya FS, Parboosingh JS, Innes AM, Willoughby CE, Giles RH, Webster AR, Ueffing M, Blacque O, Gleeson JG, Wolfrum U, Beales PL, Gibson T, Doherty D, Mitchison HM, Roepman R, Johnson CA.

Nat Cell Biol. 2015 Aug;17(8):1074-1087. doi: 10.1038/ncb3201. Epub 2015 Jul 13.

18.

Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment.

Wiegman A, Gidding SS, Watts GF, Chapman MJ, Ginsberg HN, Cuchel M, Ose L, Averna M, Boileau C, Borén J, Bruckert E, Catapano AL, Defesche JC, Descamps OS, Hegele RA, Hovingh GK, Humphries SE, Kovanen PT, Kuivenhoven JA, Masana L, Nordestgaard BG, Pajukanta P, Parhofer KG, Raal FJ, Ray KK, Santos RD, Stalenhoef AF, Steinhagen-Thiessen E, Stroes ES, Taskinen MR, Tybjærg-Hansen A, Wiklund O; European Atherosclerosis Society Consensus Panel.

Eur Heart J. 2015 Sep 21;36(36):2425-37. doi: 10.1093/eurheartj/ehv157. Epub 2015 May 25. Review.

19.

The lipid-lowering effects of lomitapide are unaffected by adjunctive apheresis in patients with homozygous familial hypercholesterolaemia - a post-hoc analysis of a Phase 3, single-arm, open-label trial.

Stefanutti C, Blom DJ, Averna MR, Meagher EA, Theron Hd, Marais AD, Hegele RA, Sirtori CR, Shah PK, Gaudet D, Vigna GB, Sachais BS, Di Giacomo S, du Plessis AM, Bloedon LT, Balser J, Rader DJ, Cuchel M; Phase 3 HoFH Lomitapide Study Investigators.

Atherosclerosis. 2015 Jun;240(2):408-14. doi: 10.1016/j.atherosclerosis.2015.03.014. Epub 2015 Mar 14.

20.

Contribution of common non-synonymous variants in PCSK1 to body mass index variation and risk of obesity: a systematic review and meta-analysis with evidence from up to 331 175 individuals.

Nead KT, Li A, Wehner MR, Neupane B, Gustafsson S, Butterworth A, Engert JC, Davis AD, Hegele RA, Miller R, den Hoed M, Khaw KT, Kilpeläinen TO, Wareham N, Edwards TL, Hallmans G, Varga TV, Kardia SL, Smith JA, Zhao W, Faul JD, Weir D, Mi J, Xi B, Quinteros SC, Cooper C, Sayer AA, Jameson K, Grøntved A, Fornage M, Sidney S, Hanis CL, Highland HM, Häring HU, Heni M, Lasky-Su J, Weiss ST, Gerhard GS, Still C, Melka MM, Pausova Z, Paus T, Grant SF, Hakonarson H, Price RA, Wang K, Scherag A, Hebebrand J, Hinney A; BioBank Japan, AGEN-BMI, GIANT Consortium, Franks PW, Frayling TM, McCarthy MI, Hirschhorn JN, Loos RJ, Ingelsson E, Gerstein HC, Yusuf S, Beyene J, Anand SS, Meyre D.

Hum Mol Genet. 2015 Jun 15;24(12):3582-94. doi: 10.1093/hmg/ddv097. Epub 2015 Mar 17. Review.

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