Suppr
超能文献

Genetic Testing in Familial Hypercholesterolemia: Strengthening the Tools, Reinforcing Efforts, and Diagnosis.

作者信息

Abifadel Marianne S, Rabès Jean-Pierre H, Boileau Catherine R

机构信息

Laboratory for Vascular Translational Science, INSERM U1148, Centre Hospitalo-Universitaire Xavier Bichat, Université de Paris, Paris, France.

Laboratory of Biochemistry and Molecular Therapeutics, Faculty of Pharmacy, Pôle Technologie-Santé, Saint Joseph University of Beirut, Beirut, Lebanon.

出版信息

JACC Basic Transl Sci. 2021 Nov 22;6(11):831-833. doi: 10.1016/j.jacbts.2021.10.004. eCollection 2021 Nov.

DOI:10.1016/j.jacbts.2021.10.004

PMID:34869946

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8617568/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c6e1/8617568/0c97bd966b06/fx1.jpg

相似文献

Genetic Testing in Familial Hypercholesterolemia: Strengthening the Tools, Reinforcing Efforts, and Diagnosis.

JACC Basic Transl Sci. 2021 Nov 22;6(11):831-833. doi: 10.1016/j.jacbts.2021.10.004. eCollection 2021 Nov.

MLb-LDLr: A Machine Learning Model for Predicting the Pathogenicity of Missense Variants.

JACC Basic Transl Sci. 2021 Nov 22;6(11):815-827. doi: 10.1016/j.jacbts.2021.08.009. eCollection 2021 Nov.

Genetic Identification of Homozygous Familial Hypercholesterolemia by Long-Read Sequencing Among Patients With Clinically Diagnosed Heterozygous Familial Hypercholesterolemia.

Circ Genom Precis Med. 2023 Apr;16(2):e003887. doi: 10.1161/CIRCGEN.122.003887. Epub 2023 Mar 24.

Novel LDLR Variant in Familial Hypercholesterolemia: NGS-Based Identification, In Silico Characterization, and Pharmacogenetic Insights.

Life (Basel). 2023 Jul 11;13(7):1542. doi: 10.3390/life13071542.

Evidence for a third genetic locus causing familial hypercholesterolemia. A non-LDLR, non-APOB kindred.

J Lipid Res. 1999 Jun;40(6):1113-22.

DIAgnosis and Management Of familial hypercholesterolemia in a Nationwide Design (DIAMOND-FH): Prevalence in Switzerland, clinical characteristics and the diagnostic value of clinical scores.

Atherosclerosis. 2018 Oct;277:282-288. doi: 10.1016/j.atherosclerosis.2018.08.009.

Identification of a novel large duplication (exon2_6dup): copy number variation in the LDLR gene in a large family with familial hypercholesterolemia by whole-genome sequencing.

J Clin Lipidol. 2022 Mar-Apr;16(2):167-172. doi: 10.1016/j.jacl.2022.01.007. Epub 2022 Jan 21.

Familial hypercholesterolemia: experience from France.

Curr Opin Lipidol. 2018 Apr;29(2):65-71. doi: 10.1097/MOL.0000000000000496.

Improvement of Definite Diagnosis of Familial Hypercholesterolemia Using an Expanding Genetic Analysis.

JACC Asia. 2021 Apr 21;1(1):82-89. doi: 10.1016/j.jacasi.2021.04.001. eCollection 2021 Jun.

Validation of LDLr Activity as a Tool to Improve Genetic Diagnosis of Familial Hypercholesterolemia: A Retrospective on Functional Characterization of LDLr Variants.

Int J Mol Sci. 2018 Jun 5;19(6):1676. doi: 10.3390/ijms19061676.

引用本文的文献

Effect of causative genetic variants on atherosclerotic cardiovascular disease in heterozygous familial hypercholesterolemia patients.

Front Cardiovasc Med. 2023 Jul 19;10:1182554. doi: 10.3389/fcvm.2023.1182554. eCollection 2023.

Genetic and molecular architecture of familial hypercholesterolemia.

J Intern Med. 2023 Feb;293(2):144-165. doi: 10.1111/joim.13577. Epub 2022 Oct 17.

Etiologic Puzzle of Coronary Artery Disease: How Important Is Genetic Component?

Life (Basel). 2022 Jun 9;12(6):865. doi: 10.3390/life12060865.

本文引用的文献

MLb-LDLr: A Machine Learning Model for Predicting the Pathogenicity of Missense Variants.

JACC Basic Transl Sci. 2021 Nov 22;6(11):815-827. doi: 10.1016/j.jacbts.2021.08.009. eCollection 2021 Nov.

Genetic testing in dyslipidemia: A scientific statement from the National Lipid Association.

J Clin Lipidol. 2020 Jul-Aug;14(4):398-413. doi: 10.1016/j.jacl.2020.04.011. Epub 2020 May 7.

The role of genetic testing in dyslipidaemia.

Pathology. 2019 Feb;51(2):184-192. doi: 10.1016/j.pathol.2018.10.014. Epub 2018 Dec 14.

ClinVar database of global familial hypercholesterolemia-associated DNA variants.

Hum Mutat. 2018 Nov;39(11):1631-1640. doi: 10.1002/humu.23634.

Clinical Genetic Testing for Familial Hypercholesterolemia: JACC Scientific Expert Panel.

J Am Coll Cardiol. 2018 Aug 7;72(6):662-680. doi: 10.1016/j.jacc.2018.05.044.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验

Suppr超能文献

Genetic Testing in Familial Hypercholesterolemia: Strengthening the Tools, Reinforcing Efforts, and Diagnosis.

作者信息

机构信息

出版信息

相似文献

引用本文的文献

本文引用的文献

文献AI研究员

用中文搜PubMed

文档翻译