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Items: 1 to 20 of 147

1.

Opportunistic screening for familial hypercholesterolaemia via a community laboratory.

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

Ann Clin Biochem. 2012 Nov;49(Pt 6):534-7. doi: 10.1258/acb.2012.012002. Epub 2012 Sep 21.

PMID:
23002132
2.

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
3.

Screening for familial hypercholesterolaemia.

Bender R, Bell DA, Hooper AJ, Edwards G, van Bockxmeer FM, Watts GF, Burnett JR.

Pathology. 2012 Feb;44(2):122-8. doi: 10.1097/PAT.0b013e32834efa07. Review.

PMID:
22228254
4.

Progress in the care of familial hypercholesterolaemia: 2016.

Bell DA, Watts GF.

Med J Aust. 2016 Sep 5;205(5):232-6. Review.

PMID:
27581271
5.

The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark.

Jensen HK.

Dan Med Bull. 2002 Nov;49(4):318-45. Review.

PMID:
12553167
6.

Estimation of the prevalence of familial hypercholesterolaemia in a rural Afrikaner community by direct screening for three Afrikaner founder low density lipoprotein receptor gene mutations.

Steyn K, Goldberg YP, Kotze MJ, Steyn M, Swanepoel AS, Fourie JM, Coetzee GA, Van der Westhuyzen DR.

Hum Genet. 1996 Oct;98(4):479-84.

PMID:
8792826
7.

Diagnosis of families with familial hypercholesterolaemia and/or Apo B-100 defect by means of DNA analysis of LDL-receptor gene mutations.

Widhalm K, Dirisamer A, Lindemayr A, Kostner G.

J Inherit Metab Dis. 2007 Apr;30(2):239-47. Epub 2007 Mar 8.

PMID:
17347910
8.

Mutations causative of familial hypercholesterolaemia: screening of 98 098 individuals from the Copenhagen General Population Study estimated a prevalence of 1 in 217.

Benn M, Watts GF, Tybjærg-Hansen A, Nordestgaard BG.

Eur Heart J. 2016 May 1;37(17):1384-94. doi: 10.1093/eurheartj/ehw028. Epub 2016 Feb 22.

PMID:
26908947
9.

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
10.

Identifying patients with familial hypercholesterolaemia in primary care: an informatics-based approach in one primary care centre.

Gray J, Jaiyeola A, Whiting M, Modell M, Wierzbicki AS.

Heart. 2008 Jun;94(6):754-8. Epub 2007 Jun 17.

PMID:
17575326
11.

[Familial hypercholesterolemia: epidemiology, genetics, diagnosis, and screening].

Sinan ÜY, Sansoy V.

Turk Kardiyol Dern Ars. 2014 Oct;42 Suppl 2:1-9. Review. Turkish.

PMID:
25693358
12.
13.

Diagnosis of heterozygous familial hypercholesterolaemia in children.

Nicholls DP, Cather M, Byrne C, Graham CA, Young IS.

Int J Clin Pract. 2008 Jul;62(7):990-4. doi: 10.1111/j.1742-1241.2008.01793.x. Epub 2008 May 19.

PMID:
18492057
14.

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.

PMID:
26009596
15.

Effectiveness of alternative strategies to define index case phenotypes to aid genetic diagnosis of familial hypercholesterolaemia.

Clarke RE, Padayachee ST, Preston R, McMahon Z, Gordon M, Graham C, Crook MA, Wierzbicki AS.

Heart. 2013 Feb;99(3):175-80. doi: 10.1136/heartjnl-2012-302917. Epub 2012 Dec 4.

PMID:
23213176
16.

Impact of interpretative commenting on lipid profiles in people at high risk of familial hypercholesterolaemia.

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

Clin Chim Acta. 2013 Jun 25;422:21-5. doi: 10.1016/j.cca.2013.03.027. Epub 2013 Apr 6.

PMID:
23566930
17.

Are patients with familial hypercholesterolaemia well managed in lipid clinics? An audit of eleven clinics from the Department of Health Familial Hypercholesterolaemia Cascade Testing project.

Hadfield SG, Horara S, Starr BJ, Yazdgerdi S, Bhatnagar D, Cramb R, Egan S, Everdell R, Ferns G, Jones A, Marenah CB, Marples J, Prinsloo P, Sneyd A, Stewart MF, Sandle L, Wang T, Watson MS, Humphries SE.

Ann Clin Biochem. 2008 Mar;45(Pt 2):199-205. doi: 10.1258/acb.2007.007078.

PMID:
18325186
18.

Prevalence and management of familial hypercholesterolaemia in patients with acute coronary syndromes.

Nanchen D, Gencer B, Auer R, Räber L, Stefanini GG, Klingenberg R, Schmied CM, Cornuz J, Muller O, Vogt P, Jüni P, Matter CM, Windecker S, Lüscher TF, Mach F, Rodondi N.

Eur Heart J. 2015 Sep 21;36(36):2438-45. doi: 10.1093/eurheartj/ehv289. Epub 2015 Jul 4.

PMID:
26142466
19.

Comparison of genetic versus clinical diagnosis in familial hypercholesterolemia.

Civeira F, Ros E, Jarauta E, Plana N, Zambon D, Puzo J, Martinez de Esteban JP, Ferrando J, Zabala S, Almagro F, Gimeno JA, Masana L, Pocovi M.

Am J Cardiol. 2008 Nov 1;102(9):1187-93, 1193.e1. doi: 10.1016/j.amjcard.2008.06.056. Epub 2008 Aug 27.

PMID:
18940289
20.

A new electronic screening tool for identifying risk of familial hypercholesterolaemia in general practice.

Troeung L, Arnold-Reed D, Chan She Ping-Delfos W, Watts GF, Pang J, Lugonja M, Bulsara M, Mortley D, James M, Brett T.

Heart. 2016 Jun 1;102(11):855-61. doi: 10.1136/heartjnl-2015-308824. Epub 2016 Feb 10.

PMID:
26864669

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