Literature DB >> 27161618

Improving the yield of genetic testing in familial hypercholesterolaemia.

Ezim Ajufo, Marina Cuchel.   

Abstract

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Year:  2017        PMID： 27161618      PMCID： PMC5837421          DOI： 10.1093/eurheartj/ehw166

Source DB:  PubMed          Journal:  Eur Heart J        ISSN： 0195-668X            Impact factor:   35.855


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  15 in total

1.  Cost-effectiveness analysis of alternative screening and treatment strategies for heterozygous familial hypercholesterolemia in the United States.

Authors:  Christina X Chen; Joel W Hay
Journal:  Int J Cardiol       Date:  2014-12-24       Impact factor: 4.164

Review 2.  A systematic review of economic evaluations of the detection and treatment of familial hypercholesterolemia.

Authors:  Zanfina Ademi; Gerald F Watts; Amanda Juniper; Danny Liew
Journal:  Int J Cardiol       Date:  2013-03-13       Impact factor: 4.164

3.  Clinical experience of scoring criteria for Familial Hypercholesterolaemia (FH) genetic testing in Wales.

Authors:  K Haralambos; S D Whatley; R Edwards; R Gingell; D Townsend; P Ashfield-Watt; P Lansberg; D B N Datta; I F W McDowell
Journal:  Atherosclerosis       Date:  2015-03-06       Impact factor: 5.162

Review 4.  Genetic causes of monogenic heterozygous familial hypercholesterolemia: a HuGE prevalence review.

Authors:  Melissa A Austin; Carolyn M Hutter; Ron L Zimmern; Steve E Humphries
Journal:  Am J Epidemiol       Date:  2004-09-01       Impact factor: 4.897

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

Authors:  Rosemary E J Clarke; Soundrie T Padayachee; Rebecca Preston; Zofia McMahon; Mitchell Gordon; Colin Graham; Martin A Crook; Anthony S Wierzbicki
Journal:  Heart       Date:  2012-12-04       Impact factor: 5.994

Review 6.  Differences in characteristics and risk of cardiovascular disease in familial hypercholesterolemia patients with and without tendon xanthomas: a systematic review and meta-analysis.

Authors:  Daniëlla M Oosterveer; Jorie Versmissen; Mojgan Yazdanpanah; Taye H Hamza; Eric J G Sijbrands
Journal:  Atherosclerosis       Date:  2009-04-17       Impact factor: 5.162

7.  Comparison of genetic versus clinical diagnosis in familial hypercholesterolemia.

Authors:  Fernando Civeira; Emilio Ros; Estibaliz Jarauta; Nuria Plana; Daniel Zambon; Jose Puzo; Juan P Martinez de Esteban; Juan Ferrando; Sergio Zabala; Fatima Almagro; Jose A Gimeno; Luis Masana; Miguel Pocovi
Journal:  Am J Cardiol       Date:  2008-08-27       Impact factor: 2.778

8.  Clinical features of familial hypercholesterolemia in Korea: Predictors of pathogenic mutations and coronary artery disease - A study supported by the Korean Society of Lipidology and Atherosclerosis.

Authors:  Dong Geum Shin; Soo Min Han; Doo Il Kim; Moo-Yong Rhee; Byoung-Kwon Lee; Young Keun Ahn; Byung Ryul Cho; Jeong-Taek Woo; Seung-Ho Hur; Jin-Ok Jeong; Yangsoo Jang; Ji Hyun Lee; Sang-Hak Lee
Journal:  Atherosclerosis       Date:  2015-09-05       Impact factor: 5.162

9.  Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society.

Authors:  Børge G Nordestgaard; M John Chapman; Steve E Humphries; Henry N Ginsberg; Luis Masana; Olivier S Descamps; Olov Wiklund; Robert A Hegele; Frederick J Raal; Joep C Defesche; Albert Wiegman; Raul D Santos; Gerald F Watts; Klaus G Parhofer; G Kees Hovingh; Petri T Kovanen; Catherine Boileau; Maurizio Averna; Jan Borén; Eric Bruckert; Alberico L Catapano; Jan Albert Kuivenhoven; Päivi Pajukanta; Kausik Ray; Anton F H Stalenhoef; Erik Stroes; Marja-Riitta Taskinen; Anne Tybjærg-Hansen
Journal:  Eur Heart J       Date:  2013-08-15       Impact factor: 29.983

10.  Efficacy of statins in familial hypercholesterolaemia: a long term cohort study.

Authors:  Jorie Versmissen; Daniëlla M Oosterveer; Mojgan Yazdanpanah; Joep C Defesche; Dick C G Basart; Anho H Liem; Jan Heeringa; Jacqueline C Witteman; Peter J Lansberg; John J P Kastelein; Eric J G Sijbrands
Journal:  BMJ       Date:  2008-11-11
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  2 in total

1.  Machine learning modelling of blood lipid biomarkers in familial hypercholesterolaemia versus polygenic/environmental dyslipidaemia.

Authors:  Marta Correia; Eva Kagenaar; Daniël Bernardus van Schalkwijk; Mafalda Bourbon; Margarida Gama-Carvalho
Journal:  Sci Rep       Date:  2021-02-15       Impact factor: 4.379

2.  Association of Monogenic vs Polygenic Hypercholesterolemia With Risk of Atherosclerotic Cardiovascular Disease.

Authors:  Mark Trinder; Gordon A Francis; Liam R Brunham
Journal:  JAMA Cardiol       Date:  2020-04-01       Impact factor: 14.676
  2 in total

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