Literature DB >> 32479201

What Is Familial Hypercholesterolemia, and Why Does It Matter?

Amit V Khera1,2,3, Robert A Hegele4.   

Abstract

Entities:  

Keywords:  Editorials; atherosclerosis; cholesterol, LDL; hypercholesterolemia

Year:  2020        PMID： 32479201      PMCID： PMC7299543          DOI： 10.1161/CIRCULATIONAHA.120.046961

Source DB:  PubMed          Journal:  Circulation        ISSN： 0009-7322            Impact factor:   29.690


× No keyword cloud information.
  15 in total

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

Authors:  Marianne Benn; Gerald F Watts; Anne Tybjærg-Hansen; Børge G Nordestgaard
Journal:  Eur Heart J       Date:  2016-02-22       Impact factor: 29.983

2.  Genetic identification of familial hypercholesterolemia within a single U.S. health care system.

Authors:  Noura S Abul-Husn; Kandamurugu Manickam; Laney K Jones; Eric A Wright; Dustin N Hartzel; Claudia Gonzaga-Jauregui; Colm O'Dushlaine; Joseph B Leader; H Lester Kirchner; D'Andra M Lindbuchler; Marci L Barr; Monica A Giovanni; Marylyn D Ritchie; John D Overton; Jeffrey G Reid; Raghu P R Metpally; Amr H Wardeh; Ingrid B Borecki; George D Yancopoulos; Aris Baras; Alan R Shuldiner; Omri Gottesman; David H Ledbetter; David J Carey; Frederick E Dewey; Michael F Murray
Journal:  Science       Date:  2016-12-23       Impact factor: 47.728

3.  Prevalence of Familial Hypercholesterolemia Among the General Population and Patients With Atherosclerotic Cardiovascular Disease: A Systematic Review and Meta-Analysis.

Authors:  Pengwei Hu; Kanika I Dharmayat; Kausik K Ray; Antonio J Vallejo-Vaz; Christophe A T Stevens; Mansour T A Sharabiani; Rebecca S Jones; Gerald F Watts; Jacques Genest
Journal:  Circulation       Date:  2020-05-29       Impact factor: 29.690

4.  Diagnosing familial hypercholesterolaemia: the relevance of genetic testing.

Authors:  Emily S van Aalst-Cohen; Angelique C M Jansen; Michael W T Tanck; Joep C Defesche; Mieke D Trip; Peter J Lansberg; Anton F H Stalenhoef; John J P Kastelein
Journal:  Eur Heart J       Date:  2006-07-06       Impact factor: 29.983

Review 5.  The complex molecular genetics of familial hypercholesterolaemia.

Authors:  Amanda J Berberich; Robert A Hegele
Journal:  Nat Rev Cardiol       Date:  2019-01       Impact factor: 32.419

6.  Polygenic Versus Monogenic Causes of Hypercholesterolemia Ascertained Clinically.

Authors:  Jian Wang; Jacqueline S Dron; Matthew R Ban; John F Robinson; Adam D McIntyre; Maher Alazzam; Pei Jun Zhao; Allison A Dilliott; Henian Cao; Murray W Huff; David Rhainds; Cécile Low-Kam; Marie-Pierre Dubé; Guillaume Lettre; Jean-Claude Tardif; Robert A Hegele
Journal:  Arterioscler Thromb Vasc Biol       Date:  2016-10-20       Impact factor: 8.311

Review 7.  The LDL receptor.

Authors:  Joseph L Goldstein; Michael S Brown
Journal:  Arterioscler Thromb Vasc Biol       Date:  2009-04       Impact factor: 8.311

8.  Cholesterol-Lowering Agents.

Authors:  Robert S Rosenson; Robert A Hegele; Wolfgang Koenig
Journal:  Circ Res       Date:  2019-02       Impact factor: 17.367

9.  Risk of fatal coronary heart disease in familial hypercholesterolaemia. Scientific Steering Committee on behalf of the Simon Broome Register Group.

Authors: 
Journal:  BMJ       Date:  1991-10-12

10.  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
View more
  8 in total

1.  Population-Based Penetrance of Deleterious Clinical Variants.

Authors:  Iain S Forrest; Kumardeep Chaudhary; Ha My T Vy; Ben O Petrazzini; Shantanu Bafna; Daniel M Jordan; Ghislain Rocheleau; Ruth J F Loos; Girish N Nadkarni; Judy H Cho; Ron Do
Journal:  JAMA       Date:  2022-01-25       Impact factor: 157.335

Review 2.  Familial Hypercholesterolemia and Elevated Lipoprotein(a): Cascade Testing and Other Implications for Contextual Models of Care.

Authors:  Wann Jia Loh; Dick C Chan; Pedro Mata; Gerald F Watts
Journal:  Front Genet       Date:  2022-04-27       Impact factor: 4.772

3.  DNA sequencing in familial hypercholesterolaemia: the next generation.

Authors:  Julieta Lazarte; Robert A Hegele
Journal:  Eur J Prev Cardiol       Date:  2021-07-23       Impact factor: 7.804

Review 4.  Bempedoic Acid for Heterozygous Familial Hypercholesterolemia: From Bench to Bedside.

Authors:  Anandita Agarwala; Renato Quispe; Anne C Goldberg; Erin D Michos
Journal:  Drug Des Devel Ther       Date:  2021-05-10       Impact factor: 4.162

5.  Racial Disparities in Modifiable Risk Factors and Statin Usage in Black Patients With Familial Hypercholesterolemia.

Authors:  Anandita Agarwala; Nathan Bekele; Elena Deych; Michael W Rich; Aliza Hussain; Laney K Jones; Amy C Sturm; Karen Aspry; Elizabeth Nowak; Zahid Ahmad; Christie M Ballantyne; Anne C Goldberg
Journal:  J Am Heart Assoc       Date:  2021-08-25       Impact factor: 5.501

Review 6.  Mipomersen in Familial Hypercholesterolemia: An Update on Health-Related Quality of Life and Patient-Reported Outcomes.

Authors:  Diego Chambergo-Michilot; Anish Alur; Saneel Kulkarni; Anandita Agarwala
Journal:  Vasc Health Risk Manag       Date:  2022-02-21

7.  Implementation of a biochemical, clinical, and genetic screening programme for familial hypercholesterolemia in 26 centres in Spain: The ARIAN study.

Authors:  Teresa Arrobas Velilla; Ángel Brea; Pedro Valdivielso
Journal:  Front Genet       Date:  2022-08-29       Impact factor: 4.772

8.  Improving Familial Hypercholesterolemia Diagnosis Using an EMR-based Hybrid Diagnostic Model.

Authors:  Wael E Eid; Emma Hatfield Sapp; Abby Wendt; Amity Lumpp; Carl Miller
Journal:  J Clin Endocrinol Metab       Date:  2022-03-24       Impact factor: 5.958
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.