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Items: 1 to 50 of 92

1.

A genetic risk score predicts coronary artery disease in familial hypercholesterolaemia: enhancing the precision of risk assessment.

Ellis KL, Hooper AJ, Pang J, Chan DC, Burnett JR, Bell DA, Schultz CJ, Moses EK, Watts GF.

Clin Genet. 2019 Sep 30. doi: 10.1111/cge.13648. [Epub ahead of print]

PMID:
31571196
2.

Air retrieval for clot retrieval; time-metrics and outcomes of stroke patients from rural and remote regions air-transported for mechanical thrombectomy at a state stroke unit.

Crockett MT, Jha N, Hooper AJ, Chiu AHY, Singh TP, Phillips TJ, McAuliffe W.

J Clin Neurosci. 2019 Aug 19. pii: S0967-5868(19)31114-2. doi: 10.1016/j.jocn.2019.08.045. [Epub ahead of print]

PMID:
31439489
3.

Effect of Lipoprotein(a) on the Diagnosis of Familial Hypercholesterolemia: Does It Make a Difference in the Clinic?

Chan DC, Pang J, Hooper AJ, Bell DA, Burnett JR, Watts GF.

Clin Chem. 2019 Oct;65(10):1258-1266. doi: 10.1373/clinchem.2019.306738. Epub 2019 Jul 15.

PMID:
31307996
4.

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
5.

Non-HDL-cholesterol and apolipoprotein B compared with LDL-cholesterol in atherosclerotic cardiovascular disease risk assessment.

Carr SS, Hooper AJ, Sullivan DR, Burnett JR.

Pathology. 2019 Feb;51(2):148-154. doi: 10.1016/j.pathol.2018.11.006. Epub 2018 Dec 27. Review.

PMID:
30595507
6.

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
7.

PCSK9 - A Journey to Cardiovascular Outcomes.

Burnett JR, Hooper AJ.

N Engl J Med. 2018 Nov 29;379(22):2161-2162. doi: 10.1056/NEJMe1813758. No abstract available.

PMID:
30485782
8.

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.

9.

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
10.

Heterozygous familial hypercholesterolaemia in specialist centres in South Africa, Australia and Brazil: Importance of early detection and lifestyle advice.

Pang J, David Marais A, Blom DJ, Brice BC, Silva PR, Jannes CE, Pereira AC, Hooper AJ, Ray KK, Santos RD, Watts GF.

Atherosclerosis. 2018 Oct;277:470-476. doi: 10.1016/j.atherosclerosis.2018.06.822.

11.

Homozygous familial hypercholesterolaemia in Vietnam: Case series, genetics and cascade testing of families.

Truong TH, Kim NT, Nguyen MNT, Pang J, Hooper AJ, Watts GF, Do DL.

Atherosclerosis. 2018 Oct;277:392-398. doi: 10.1016/j.atherosclerosis.2018.06.013.

PMID:
30270076
12.

Using hyperpolarised NMR and DFT to rationalise the unexpected hydrogenation of quinazoline to 3,4-dihydroquinazoline.

Richards JE, Hooper AJJ, Bayfield OW, Cockett MCR, Dear GJ, Holmes AJ, John RO, Mewis RE, Pridmore N, Roberts AD, Whitwood AC, Duckett SB.

Chem Commun (Camb). 2018 Sep 11;54(73):10375-10378. doi: 10.1039/c8cc04826f.

13.

The Present and the Future of Genetic Testing in Familial Hypercholesterolemia: Opportunities and Caveats.

Hooper AJ, Burnett JR, Bell DA, Watts GF.

Curr Atheroscler Rep. 2018 May 19;20(6):31. doi: 10.1007/s11883-018-0731-0. Review.

PMID:
29779130
14.

Parent-child genetic testing for familial hypercholesterolaemia in an Australian context.

Pang J, Martin AC, Bates TR, Hooper AJ, Bell DA, Burnett JR, Norman R, Watts GF.

J Paediatr Child Health. 2018 Jul;54(7):741-747. doi: 10.1111/jpc.13898. Epub 2018 Apr 6.

PMID:
29626384
15.

A Comparative Analysis of Phenotypic Predictors of Mutations in Familial Hypercholesterolemia.

Chan DC, Pang J, Hooper AJ, Bell DA, Bates TR, Burnett JR, Watts GF.

J Clin Endocrinol Metab. 2018 Apr 1;103(4):1704-1714. doi: 10.1210/jc.2017-02622.

PMID:
29408959
16.

The role of patient registries for rare genetic lipid disorders.

Ng DM, Hooper AJ, Bellgard MI, Burnett JR.

Curr Opin Lipidol. 2018 Apr;29(2):156-162. doi: 10.1097/MOL.0000000000000485. Review.

PMID:
29351106
17.

Lipoprotein Lipase Deficiency in an Infant With Chylomicronemia, Hepatomegaly, and Lipemia Retinalis.

Vidanapathirana DM, Rodrigo T, Waidyanatha S, Jasinge E, Hooper AJ, Burnett JR.

Glob Pediatr Health. 2017 Jun 28;4:2333794X17715839. doi: 10.1177/2333794X17715839. eCollection 2017. No abstract available.

18.

Familial Lipoprotein Lipase Deficiency.

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.
1999 Oct 12 [updated 2017 Jun 22].

19.

Clinical utility gene card for: Tangier disease.

Hooper AJ, McCormick SPA, Hegele RA, Burnett JR.

Eur J Hum Genet. 2017 Jun;25(7). doi: 10.1038/ejhg.2017.72. Epub 2017 May 24. No abstract available.

20.

Isolated brachydactyly type E and idiopathic pancreatitis in a patient presenting to a lipid disorders clinic.

Page MM, Hooper AJ, Glendenning P, Burnett JR.

BMJ Case Rep. 2017 Apr 6;2017. pii: bcr-2016-218825. doi: 10.1136/bcr-2016-218825.

21.

Clinical utility gene card for: Sitosterolaemia.

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

Eur J Hum Genet. 2017 Apr;25(4). doi: 10.1038/ejhg.2016.187. Epub 2016 Dec 28. No abstract available.

22.

Familial combined hyperlipidemia and hyperlipoprotein(a) as phenotypic mimics of familial hypercholesterolemia: Frequencies, associations and predictions.

Ellis KL, Pang J, Chan DC, Hooper AJ, Bell DA, Burnett JR, Watts GF.

J Clin Lipidol. 2016 Nov - Dec;10(6):1329-1337.e3. doi: 10.1016/j.jacl.2016.08.011. Epub 2016 Aug 26.

PMID:
27919349
23.

Interpretative comments specifically suggesting specialist referral increase the detection of familial hypercholesterolaemia.

Bender R, Edwards G, McMahon J, Hooper AJ, Watts GF, Burnett JR, Bell DA.

Pathology. 2016 Aug;48(5):463-6. doi: 10.1016/j.pathol.2016.04.003. Epub 2016 Jun 18.

PMID:
27328651
24.

Novel APOB missense variants, A224T and V925L, in a black South African woman with marked hypocholesterolemia.

Miller SA, Hooper AJ, Mantiri GA, Marais D, Tanyanyiwa DM, McKnight J, Burnett JR.

J Clin Lipidol. 2016 May-Jun;10(3):604-9. doi: 10.1016/j.jacl.2016.01.006. Epub 2016 Feb 16.

PMID:
27206948
25.

Progress in the care of common inherited atherogenic disorders of apolipoprotein B metabolism.

Ellis KL, Hooper AJ, Burnett JR, Watts GF.

Nat Rev Endocrinol. 2016 Aug;12(8):467-84. doi: 10.1038/nrendo.2016.69. Epub 2016 May 20. Review.

PMID:
27199287
26.

Lipoprotein metabolism in an apoB-80 familial hypobetalipoproteinemia heterozygote.

Hooper AJ, Robertson K, Champain D, Hua J, Song S, Parhofer KG, Barrett PHR, van Bockxmeer FM, Burnett JR.

Clin Biochem. 2016 Jun;49(9):720-722. doi: 10.1016/j.clinbiochem.2016.02.008. Epub 2016 Feb 23.

27.

Management of Familial Hypercholesterolemia in Hong Kong.

Hu M, Hooper AJ, Bockxmeer FM, Watts GF, Chan JC, Tomlinson B.

J Atheroscler Thromb. 2016 May 2;23(5):520-31. doi: 10.5551/jat.34314. Epub 2016 Feb 12. Review.

28.

Anacetrapib for the treatment of dyslipidaemia: the last bastion of the cholesteryl ester transfer protein inhibitors?

Page MM, Hooper AJ, Burnett JR.

Expert Opin Pharmacother. 2016;17(2):275-81. doi: 10.1517/14656566.2016.1129402. Epub 2015 Dec 28. Review.

PMID:
26642232
29.

Elevated lipoprotein(a), hypertension and renal insufficiency as predictors of coronary artery disease in patients with genetically confirmed heterozygous familial hypercholesterolemia.

Chan DC, Pang J, Hooper AJ, Burnett JR, Bell DA, Bates TR, van Bockxmeer FM, Watts GF.

Int J Cardiol. 2015 Dec 15;201:633-8. doi: 10.1016/j.ijcard.2015.08.146. Epub 2015 Aug 21.

PMID:
26340131
30.

Lipoprotein Metabolism in APOB L343V Familial Hypobetalipoproteinemia.

Hooper AJ, Heeks L, Robertson K, Champain D, Hua J, Song S, Parhofer KG, Barrett PH, van Bockxmeer FM, Burnett JR.

J Clin Endocrinol Metab. 2015 Nov;100(11):E1484-90. doi: 10.1210/jc.2015-2731. Epub 2015 Aug 31.

31.

Vitamin E and oxidative stress in abetalipoproteinemia and familial hypobetalipoproteinemia.

Burnett JR, Hooper AJ.

Free Radic Biol Med. 2015 Nov;88(Pt A):59-62. doi: 10.1016/j.freeradbiomed.2015.05.044. Epub 2015 Jun 16. Review.

PMID:
26086616
32.

The potential role of an expert computer system to augment the opportunistic detection of individuals with familial hypercholesterolaemia from a community laboratory.

Bell DA, Edwards G, Hooper AJ, McMahon J, van Bockxmeer FM, Watts GF, Burnett JR.

Clin Chim Acta. 2015 Aug 25;448:18-21. doi: 10.1016/j.cca.2015.06.004. Epub 2015 Jun 15.

PMID:
26086446
33.

Utilisation of water soluble iridium catalysts for signal amplification by reversible exchange.

Fekete M, Gibard C, Dear GJ, Green GG, Hooper AJ, Roberts AD, Cisnetti F, Duckett SB.

Dalton Trans. 2015 May 7;44(17):7870-80. doi: 10.1039/c5dt00311c.

PMID:
25823378
34.

SPG11 mutation in a Turkish familial hypobetalipoproteinemia family with hereditary spastic paraplegia.

Hooper AJ, Akinci B, Davis MR, Burnett JR.

Clin Chim Acta. 2015 May 20;445:1. doi: 10.1016/j.cca.2015.03.001. Epub 2015 Mar 11. No abstract available.

PMID:
25769290
35.

Effectiveness of genetic cascade screening for familial hypercholesterolaemia using a centrally co-ordinated clinical service: an Australian experience.

Bell DA, Pang J, Burrows S, Bates TR, van Bockxmeer FM, Hooper AJ, O'Leary P, Burnett JR, Watts GF.

Atherosclerosis. 2015 Mar;239(1):93-100. doi: 10.1016/j.atherosclerosis.2014.12.036. Epub 2014 Dec 23.

PMID:
25585028
36.

Contemporary aspects of the biology and therapeutic regulation of the microsomal triglyceride transfer protein.

Hooper AJ, Burnett JR, Watts GF.

Circ Res. 2015 Jan 2;116(1):193-205. doi: 10.1161/CIRCRESAHA.116.304637. Review.

37.

Plasma cholesterol in adults with phenylketonuria.

Williams RA, Hooper AJ, Bell DA, Mamotte CD, Burnett JR.

Pathology. 2015 Feb;47(2):134-7. doi: 10.1097/PAT.0000000000000210.

PMID:
25551302
38.

Sorting the wheat from the chaff in familial hypercholesterolemia.

Hooper AJ, Watts GF.

Clin Chem. 2015 Jan;61(1):6-8. doi: 10.1373/clinchem.2014.234609. Epub 2014 Nov 12. No abstract available.

39.

Clinical utility gene card for: Familial hypobetalipoproteinaemia (APOB)--Update 2014.

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

Eur J Hum Genet. 2015 Jun;23(6). doi: 10.1038/ejhg.2014.225. Epub 2014 Oct 22. No abstract available.

40.

Clinical utility gene card for: Abetalipoproteinaemia--Update 2014.

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

Eur J Hum Genet. 2015 Jun;23(6). doi: 10.1038/ejhg.2014.224. Epub 2014 Oct 22. No abstract available.

41.

Quantification and genotyping of lipoprotein lipase in patients with diabetic lipaemia.

Radhakutty A, Shen J, Hooper AJ, Miller SA, Burnett JR, Mah PM, Burt MG, Doogue MP.

Diabet Med. 2014 Dec;31(12):1702-7. doi: 10.1111/dme.12565. Epub 2014 Sep 17.

PMID:
25131724
42.

Novel missense MTTP gene mutations causing abetalipoproteinemia.

Miller SA, Burnett JR, Leonis MA, McKnight CJ, van Bockxmeer FM, Hooper AJ.

Biochim Biophys Acta. 2014 Oct;1842(10):1548-54. doi: 10.1016/j.bbalip.2014.08.001. Epub 2014 Aug 6.

43.

Lipoprotein apheresis and new therapies for severe familial hypercholesterolemia in adults and children.

Page MM, Bell DA, Hooper AJ, Watts GF, Burnett JR.

Best Pract Res Clin Endocrinol Metab. 2014 Jun;28(3):387-403. doi: 10.1016/j.beem.2013.10.004. Epub 2013 Oct 26. Review.

PMID:
24840266
44.

Detecting familial hypercholesterolaemia in the community: impact of a telephone call from a chemical pathologist to the requesting general practitioner.

Bell DA, Hooper AJ, Edwards G, Southwell L, Pang J, van Bockxmeer FM, Watts GF, Burnett JR.

Atherosclerosis. 2014 Jun;234(2):469-72. doi: 10.1016/j.atherosclerosis.2014.04.002. Epub 2014 Apr 14.

PMID:
24814411
45.

Update on primary hypobetalipoproteinemia.

Hooper AJ, Burnett JR.

Curr Atheroscler Rep. 2014 Jul;16(7):423. doi: 10.1007/s11883-014-0423-3. Review.

46.

A novel missense SMPD1 gene mutation, T460P, and clinical findings in a patient with Niemann-Pick disease type B presenting to a lipid disorders clinic.

Grasko Y, Hooper AJ, Burnett JR, Watts GF.

Ann Clin Biochem. 2014 Sep;51(Pt 5):615-8. doi: 10.1177/0004563214527067. Epub 2014 Mar 18.

PMID:
24643943
47.

Elevated plasma PCSK9 level is equally detrimental for patients with nonfamilial hypercholesterolemia and heterozygous familial hypercholesterolemia, irrespective of low-density lipoprotein receptor defects.

Lambert G, Petrides F, Chatelais M, Blom DJ, Choque B, Tabet F, Wong G, Rye KA, Hooper AJ, Burnett JR, Barter PJ, Marais AD.

J Am Coll Cardiol. 2014 Jun 10;63(22):2365-73. doi: 10.1016/j.jacc.2014.02.538. Epub 2014 Mar 12.

48.

Clinical features and genetic analysis of three patients with severe hypertriglyceridaemia.

Hooper AJ, Kurtkoti J, Hamilton-Craig I, Burnett JR.

Ann Clin Biochem. 2014 Jul;51(Pt 4):485-9. doi: 10.1177/0004563214525767. Epub 2014 Mar 3.

PMID:
24591733
49.
50.

Running interference to lower cholesterol.

Burnett JR, Hooper AJ.

Lancet. 2014 Jan 4;383(9911):10-12. doi: 10.1016/S0140-6736(13)61910-8. Epub 2013 Oct 3. No abstract available.

PMID:
24094769

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