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Select item 84810801.

A case of autosomal recessive hypercholesterolemia with a novel mutation in the LDLRAP1 gene

Parisa Nikasa, Bahareh Rabbani, Mohammad Saeid Hejazi, Ata Firouzi, Hossein Baharvand, Mehdi Totonchi, Nejat Mahdieh

Clin Pediatr Endocrinol. 2021; 30(4): 201–204. Published online 2021 Oct 1. doi: 10.1297/cpe.30.201

PMCID:: PMC8481080

Article PDF–1003K

Select item 79553252.

Patients With LDLR and PCSK9 Gene Variants Experienced Higher Incidence of Cardiovascular Outcomes in Heterozygous Familial Hypercholesterolemia

Takahito Doi, Mika Hori, Mariko Harada‐Shiba, Yu Kataoka, Daisuke Onozuka, Kunihiro Nishimura, Ryo Nishikawa, Kosuke Tsuda, Masatsune Ogura, Cheol Son, Yoshihiro Miyamoto, Teruo Noguchi, Hiroaki Shimokawa, Satoshi Yasuda

J Am Heart Assoc. 2021 Feb 16; 10(4): e018263. Published online 2021 Feb 3. doi: 10.1161/JAHA.120.018263

PMCID:: PMC7955325

Article PDF–1.4M

Select item 78892873.

Polygenic Contribution to Low-Density Lipoprotein Cholesterol Levels and Cardiovascular Risk in Monogenic Familial Hypercholesterolemia

Mark Trinder, Martine Paquette, Lubomira Cermakova, Matthew R. Ban, Robert A. Hegele, Alexis Baass, Liam R. Brunham

Circ Genom Precis Med. 2020 Oct; 13(5): 515–523. Published online 2020 Aug 13. doi: 10.1161/CIRCGEN.120.002919

PMCID:: PMC7889287

Article PDF–1.0M

Select item 78443334.

The Digenic Causality in Familial Hypercholesterolemia: Revising the Genotype–Phenotype Correlations of the Disease

Amina Kamar, Athar Khalil, Georges Nemer

Front Genet. 2020; 11: 572045. Published online 2021 Jan 15. doi: 10.3389/fgene.2020.572045

PMCID:: PMC7844333

Article PDF–1.0M

Select item 74972895.

The Human Gene Mutation Database (HGMD^®): optimizing its use in a clinical diagnostic or research setting

Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips, David N. Cooper

Hum Genet. 2020; 139(10): 1197–1207. Published online 2020 Jun 28. doi: 10.1007/s00439-020-02199-3

PMCID:: PMC7497289

Article PDF–2.5M

Select item 74036066.

2018 AHA/ACC/AACVPR/AAPA/ABC/ACPM/ADA/AGS/ APhA/ASPC/NLA/PCNA Guideline on the Management of Blood Cholesterol: Executive Summary: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines

Scott M. Grundy, Neil J. Stone, Alison L. Bailey, Craig Beam, Kim K. Birtcher, Roger S. Blumenthal, Lynne T. Braun, Sarah de Ferranti, Joseph Faiella-Tommasino, Daniel E. Forman, Ronald Goldberg, Paul A. Heidenreich, Mark A. Hlatky, Daniel W. Jones, Donald Lloyd-Jones, Nuria Lopez-Pajares, Chiadi E. Ndumele, Carl E. Orringer, Carmen A. Peralta, Joseph J. Saseen, Sidney C. Smith, Jr, Laurence Sperling, Salim S. Virani, Joseph Yeboah

Circulation. Author manuscript; available in PMC 2020 Aug 5.

Published in final edited form as: Circulation. 2019 Jun 18; 139(25): e1082–e1143. Published online 2018 Nov 10. doi: 10.1161/CIR.0000000000000625

Correction in:: Circulation. 2019 Jun 18; 139(25): e1182–e1186.

Correction in:: Circulation. 2023 Aug 15; 148(7): e5.

PMCID:: PMC7403606

Article PDF–3.8M

Select item 70428207.

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

Mark Trinder, Gordon A. Francis, Liam R. Brunham

JAMA Cardiol. 2020 Apr; 5(4): 390–399. Published online 2020 Feb 12. doi: 10.1001/jamacardio.2019.5954

Correction in:: JAMA Cardiol. 2020 Apr; 5(4): 488.

PMCID:: PMC7042820

Article

Select item 69510658.

Diagnosis and Treatment of Heterozygous Familial Hypercholesterolemia

Mary P. McGowan, Seyed Hamed Hosseini Dehkordi, Patrick M. Moriarty, P. Barton Duell

J Am Heart Assoc. 2019 Dec 17; 8(24): e013225. Published online 2019 Dec 16. doi: 10.1161/JAHA.119.013225

PMCID:: PMC6951065

Article PDF–519K

Select item 68363749.

Statins for children with familial hypercholesterolemia

Alpo Vuorio, Jaana Kuoppala, Petri T Kovanen, Steve E Humphries, Serena Tonstad, Albert Wiegman, Euridiki Drogari, Uma Ramaswami, Cochrane Cystic Fibrosis and Genetic Disorders Group

Cochrane Database Syst Rev. 2019; 2019(11): CD006401. Published online 2019 Nov 7. doi: 10.1002/14651858.CD006401.pub5

PMCID:: PMC6836374

Article PDF–562K

Select item 616643110.

Cascade Screening for Familial Hypercholesterolemia and the Use of Genetic Testing

Joshua W. Knowles, Daniel J. Rader, Muin J. Khoury

JAMA. Author manuscript; available in PMC 2018 Oct 1.

Published in final edited form as: JAMA. 2017 Jul 25; 318(4): 381–382. doi: 10.1001/jama.2017.8543

PMCID:: PMC6166431

Article PDF–389K

Select item 540576911.

Diagnostic Yield of Sequencing Familial Hypercholesterolemia Genes in Severe Hypercholesterolemia

Amit V. Khera, Hong-Hee Won, Gina M. Peloso, Kim S. Lawson, Traci M. Bartz, Xuan Deng, Elisabeth M. van Leeuwen, Pradeep Natarajan, Connor A. Emdin, Alexander G. Bick, Alanna C. Morrison, Jennifer A. Brody, Namrata Gupta, Akihiro Nomura, Thorsten Kessler, Stefano Duga, Joshua C. Bis, Cornelia M. van Duijn, L. Adrienne Cupples, Bruce Psaty, Daniel J. Rader, John Danesh, Heribert Schunkert, Ruth McPherson, Martin Farrall, Hugh Watkins, Eric Lander, James G. Wilson, Adolfo Correa, Eric Boerwinkle, Piera Angelica Merlini, Diego Ardissino, Danish Saleheen, Stacey Gabriel, Sekar Kathiresan

J Am Coll Cardiol. Author manuscript; available in PMC 2017 Jun 7.

Published in final edited form as: J Am Coll Cardiol. 2016 Jun 7; 67(22): 2578–2589. Published online 2016 Apr 3. doi: 10.1016/j.jacc.2016.03.520

PMCID:: PMC5405769

Article PDF–582K

Select item 485722312.

Retrospective analysis of cohort database: Phenotypic variability in a large dataset of patients confirmed to have homozygous familial hypercholesterolemia

Frederick J. Raal, Barbara Sjouke, G. Kees Hovingh, Barton F. Isaac

Data Brief. 2016 Jun; 7: 1458–1462. Published online 2016 Apr 11. doi: 10.1016/j.dib.2016.04.004

PMCID:: PMC4857223

Article PDF–371K

Select item 473192513.

Timing, rates and spectra of human germline mutation

Raheleh Rahbari, Arthur Wuster, Sarah J. Lindsay, Robert J. Hardwick, Ludmil B. Alexandrov, Saeed Al Turki, Anna Dominiczak, Andrew Morris, David Porteous, Blair Smith, Michael R. Stratton, UK10K Consortium, Matthew E. Hurles

Nat Genet. Author manuscript; available in PMC 2016 Jun 14.

Published in final edited form as: Nat Genet. 2016 Feb; 48(2): 126–133. Published online 2015 Dec 14. doi: 10.1038/ng.3469

PMCID:: PMC4731925

Article PDF–1.6M

Select item 457614314.

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

Albert Wiegman, Samuel S. Gidding, Gerald F. Watts, M. John Chapman, Henry N. Ginsberg, Marina Cuchel, Leiv Ose, Maurizio Averna, Catherine Boileau, Jan Borén, Eric Bruckert, Alberico L. Catapano, Joep C. Defesche, Olivier S. Descamps, Robert A. Hegele, G. Kees Hovingh, Steve E. Humphries, Petri T. Kovanen, Jan Albert Kuivenhoven, Luis Masana, Børge G. Nordestgaard, Päivi Pajukanta, Klaus G. Parhofer, Frederick J. Raal, Kausik K. Ray, Raul D. Santos, Anton F.H. Stalenhoef, Elisabeth Steinhagen- Thiessen, Erik S. Stroes, Marja-Riitta Taskinen, Anne Tybjærg-Hansen, Olov Wiklund

Eur Heart J. 2015 Sep 21; 36(36): 2425–2437. Published online 2015 May 25. doi: 10.1093/eurheartj/ehv157

PMCID:: PMC4576143

Article PDF–904K

Select item 453658215.

Expert Panel on Integrated Guidelines for Cardiovascular Health and Risk Reduction in Children and Adolescents: Summary Report

EXPERT PANEL ON INTEGRATED GUIDELINES FOR CARDIOVASCULAR HEALTH AND RISK REDUCTION IN CHILDREN AND ADOLESCENTS

Pediatrics. 2011 Dec; 128(Suppl 5): S213–S256. doi: 10.1542/peds.2009-2107C

PMCID:: PMC4536582

Article PDF–1.0M

Select item 413970616.

Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society

Marina Cuchel, Eric Bruckert, Henry N. Ginsberg, Frederick J. Raal, Raul D. Santos, Robert A. Hegele, Jan Albert Kuivenhoven, Børge G. Nordestgaard, Olivier S. Descamps, Elisabeth Steinhagen-Thiessen, Anne Tybjærg-Hansen, Gerald F. Watts, Maurizio Averna, Catherine Boileau, Jan Borén, Alberico L. Catapano, Joep C. Defesche, G. Kees Hovingh, Steve E. Humphries, Petri T. Kovanen, Luis Masana, Päivi Pajukanta, Klaus G. Parhofer, Kausik K. Ray, Anton F. H. Stalenhoef, Erik Stroes, Marja-Riitta Taskinen, Albert Wiegman, Olov Wiklund, M. John Chapman, Marina Cuchel, Eric Bruckert, M. John Chapman, Olivier S. Descamps, Henry N. Ginsberg, Robert A. Hegele, Jan Albert Kuivenhoven, Børge G. Nordestgaard, Frederick J. Raal, Raul D. Santos, Elisabeth Steinhagen-Thiessen, Anne Tybjærg-Hansen, Gerald F. Watts, M. John Chapman, Henry N. Ginsberg, Maurizio Averna, Catherine Boileau, Jan Borén, Alberico L. Catapano, Joep C. Defesche, G. Kees Hovingh, Steve E. Humphries, Petri T. Kovanen, Luis Masana, Päivi Pajukanta, Klaus G. Parhofer, Kausik K. Ray, Anton F. H. Stalenhoef, Erik Stroes, Marja-Riitta Taskinen, Albert Wiegman, Olov Wiklund

Eur Heart J. 2014 Aug 21; 35(32): 2146–2157. doi: 10.1093/eurheartj/ehu274

PMCID:: PMC4139706

Article PDF–1.2M

Select item 384415217.

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

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, for the European Atherosclerosis Society Consensus Panel

Eur Heart J. 2013 Dec 1; 34(45): 3478–3490. Published online 2013 Aug 15. doi: 10.1093/eurheartj/eht273

Correction in:: Eur Heart J. 2020 Dec 14; 41(47): 4517.

PMCID:: PMC3844152

Article PDF–1.3M

Select item 370581718.

Cardiovascular Profile of Xanthelasma Palpebrarum

Anupam Dey, Ramesh Aggarwal, Shridhar Dwivedi

Biomed Res Int. 2013; 2013: 932863. Published online 2013 Jun 20. doi: 10.1155/2013/932863

PMCID:: PMC3705817

Article PDF–442K

Select item 358704219.

Familial Defective Apolipoprotein B-100 and Increased Low-Density Lipoprotein Cholesterol and Coronary Artery Calcification in the Old Order Amish

Haiqing Shen, Coleen M. Damcott, Evadnie Rampersaud, Toni I. Pollin, Richard B. Horenstein, Patrick F. McArdle, Patricia A. Peyser, Lawrence F. Bielak, Wendy S. Post, Yen-Pei C. Chang, Kathleen A. Ryan, Michael Miller, John A. Rumberger, Patrick F. Sheedy, II, John Shelton, Jeffrey R. O’Connell, Alan R. Shuldiner, Braxton D. Mitchell

Arch Intern Med. Author manuscript; available in PMC 2013 Mar 4.

Published in final edited form as: Arch Intern Med. 2010 Nov 8; 170(20): 1850–1855. doi: 10.1001/archinternmed.2010.384

PMCID:: PMC3587042

Article PDF–913K

Select item 328412520.

Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk

Sebastiano Calandra, Patrizia Tarugi, Helen E. Speedy, Andrew F. Dean, Stefano Bertolini, Carol C. Shoulders

J Lipid Res. 2011 Nov; 52(11): 1885–1926. doi: 10.1194/jlr.R017855

PMCID:: PMC3284125

Article PDF–1.4M

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