178 related articles for article (PubMed ID: 24708769)
1. A genetic variant in the LDLR promoter is responsible for part of the LDL-cholesterol variability in primary hypercholesterolemia.
De Castro-Orós I; Pérez-López J; Mateo-Gallego R; Rebollar S; Ledesma M; León M; Cofán M; Casasnovas JA; Ros E; Rodríguez-Rey JC; Civeira F; Pocoví M
BMC Med Genomics; 2014 Apr; 7():17. PubMed ID: 24708769
[TBL] [Abstract][Full Text] [Related]
2. Spectrum of low-density lipoprotein receptor (LDLR) mutations in a cohort of Sri Lankan patients with familial hypercholesterolemia - a preliminary report.
Paththinige CS; Rajapakse JRDK; Constantine GR; Sem KP; Singaraja RR; Jayasekara RW; Dissanayake VHW
Lipids Health Dis; 2018 May; 17(1):100. PubMed ID: 29720182
[TBL] [Abstract][Full Text] [Related]
3. A Deep Intronic Variant in LDLR in Familial Hypercholesterolemia.
Reeskamp LF; Hartgers ML; Peter J; Dallinga-Thie GM; Zuurbier L; Defesche JC; Grefhorst A; Hovingh GK
Circ Genom Precis Med; 2018 Dec; 11(12):e002385. PubMed ID: 30562117
[TBL] [Abstract][Full Text] [Related]
4. Molecular genetics of familial hypercholesterolemia in Israel-revisited.
Durst R; Ibe UK; Shpitzen S; Schurr D; Eliav O; Futema M; Whittall R; Szalat A; Meiner V; Knobler H; Gavish D; Henkin Y; Ellis A; Rubinstein A; Harats D; Bitzur R; Hershkovitz B; Humphries SE; Leitersdorf E
Atherosclerosis; 2017 Feb; 257():55-63. PubMed ID: 28104544
[TBL] [Abstract][Full Text] [Related]
5. The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.
Sharifi M; Walus-Miarka M; Idzior-Waluś B; Malecki MT; Sanak M; Whittall R; Li KW; Futema M; Humphries SE
Metabolism; 2016 Mar; 65(3):48-53. PubMed ID: 26892515
[TBL] [Abstract][Full Text] [Related]
6. Lifelong reduction of LDL-cholesterol related to a common variant in the LDL-receptor gene decreases the risk of coronary artery disease--a Mendelian Randomisation study.
Linsel-Nitschke P; Götz A; Erdmann J; Braenne I; Braund P; Hengstenberg C; Stark K; Fischer M; Schreiber S; El Mokhtari NE; Schaefer A; Schrezenmeir J; Rubin D; Hinney A; Reinehr T; Roth C; Ortlepp J; Hanrath P; Hall AS; Mangino M; Lieb W; Lamina C; Heid IM; Doering A; Gieger C; Peters A; Meitinger T; Wichmann HE; König IR; Ziegler A; Kronenberg F; Samani NJ; Schunkert H; ;
PLoS One; 2008 Aug; 3(8):e2986. PubMed ID: 18714375
[TBL] [Abstract][Full Text] [Related]
7. Refinement of variant selection for the LDL cholesterol genetic risk score in the diagnosis of the polygenic form of clinical familial hypercholesterolemia and replication in samples from 6 countries.
Futema M; Shah S; Cooper JA; Li K; Whittall RA; Sharifi M; Goldberg O; Drogari E; Mollaki V; Wiegman A; Defesche J; D'Agostino MN; D'Angelo A; Rubba P; Fortunato G; Waluś-Miarka M; Hegele RA; Aderayo Bamimore M; Durst R; Leitersdorf E; Mulder MT; Roeters van Lennep JE; Sijbrands EJ; Whittaker JC; Talmud PJ; Humphries SE
Clin Chem; 2015 Jan; 61(1):231-8. PubMed ID: 25414277
[TBL] [Abstract][Full Text] [Related]
8. Identification of the Functional Variant(s) that Explain the Low-Density Lipoprotein Receptor (LDLR) GWAS SNP rs6511720 Association with Lower LDL-C and Risk of CHD.
Fairoozy RH; White J; Palmen J; Kalea AZ; Humphries SE
PLoS One; 2016; 11(12):e0167676. PubMed ID: 27973560
[TBL] [Abstract][Full Text] [Related]
9. Mutation spectrum and polygenic score in German patients with familial hypercholesterolemia.
Rieck L; Bardey F; Grenkowitz T; Bertram L; Helmuth J; Mischung C; Spranger J; Steinhagen-Thiessen E; Bobbert T; Kassner U; Demuth I
Clin Genet; 2020 Nov; 98(5):457-467. PubMed ID: 32770674
[TBL] [Abstract][Full Text] [Related]
10. Association of Monogenic vs Polygenic Hypercholesterolemia With Risk of Atherosclerotic Cardiovascular Disease.
Trinder M; Francis GA; Brunham LR
JAMA Cardiol; 2020 Apr; 5(4):390-399. PubMed ID: 32049305
[TBL] [Abstract][Full Text] [Related]
11. Family-specific aggregation of lipid GWAS variants confers the susceptibility to familial hypercholesterolemia in a large Austrian family.
Nikkola E; Ko A; Alvarez M; Cantor RM; Garske K; Kim E; Gee S; Rodriguez A; Muxel R; Matikainen N; Söderlund S; Motazacker MM; Borén J; Lamina C; Kronenberg F; Schneider WJ; Palotie A; Laakso M; Taskinen MR; Pajukanta P
Atherosclerosis; 2017 Sep; 264():58-66. PubMed ID: 28772107
[TBL] [Abstract][Full Text] [Related]
12. Functional analysis of four LDLR 5'UTR and promoter variants in patients with familial hypercholesterolaemia.
Khamis A; Palmen J; Lench N; Taylor A; Badmus E; Leigh S; Humphries SE
Eur J Hum Genet; 2015 Jun; 23(6):790-5. PubMed ID: 25248394
[TBL] [Abstract][Full Text] [Related]
13. Impact of 12-SNP and 6-SNP Polygenic Scores on Predisposition to High LDL-Cholesterol Levels in Patients with Familial Hypercholesterolemia.
Cardiero G; Ferrandino M; Calcaterra IL; Iannuzzo G; Di Minno MND; Buganza R; Guardamagna O; Auricchio R; Di Taranto MD; Fortunato G
Genes (Basel); 2024 Apr; 15(4):. PubMed ID: 38674396
[TBL] [Abstract][Full Text] [Related]
14. LDLR promoter variant and exon 14 mutation on the same chromosome are associated with an unusually severe FH phenotype and treatment resistance.
Snozek CL; Lagerstedt SA; Khoo TK; Rubenfire M; Isley WL; Train LJ; Baudhuin LM
Eur J Hum Genet; 2009 Jan; 17(1):85-90. PubMed ID: 18648394
[TBL] [Abstract][Full Text] [Related]
15. The impact of gene variants on the thickness and softness of the Achilles tendon in familial hypercholesterolemia.
Michikura M; Hori M; Ogura M; Hosoda K; Harada-Shiba M
Atherosclerosis; 2022 Oct; 358():41-46. PubMed ID: 36087353
[TBL] [Abstract][Full Text] [Related]
16. Genetic Variants of LDLR and PCSK9 Associated with Variations in Response to Antihypercholesterolemic Effects of Armolipid Plus with Berberine.
De Castro-Orós I; Solà R; Valls RM; Brea A; Mozas P; Puzo J; Pocoví M
PLoS One; 2016; 11(3):e0150785. PubMed ID: 27015087
[TBL] [Abstract][Full Text] [Related]
17. The benign c.344G > A: p.(Arg115His) variant in the LDLR gene interpreted from a pedigree-based genetic analysis of familial hypercholesterolemia.
Hori M; Takahashi A; Son C; Ogura M; Harada-Shiba M
Lipids Health Dis; 2020 Apr; 19(1):62. PubMed ID: 32252761
[TBL] [Abstract][Full Text] [Related]
18. Single Nucleotide Variants Associated With Polygenic Hypercholesterolemia in Families Diagnosed Clinically With Familial Hypercholesterolemia.
Lamiquiz-Moneo I; Pérez-Ruiz MR; Jarauta E; Tejedor MT; Bea AM; Mateo-Gallego R; Pérez-Calahorra S; Baila-Rueda L; Marco-Benedí V; de Castro-Orós I; Cenarro A; Civeira F
Rev Esp Cardiol (Engl Ed); 2018 May; 71(5):351-356. PubMed ID: 28919240
[TBL] [Abstract][Full Text] [Related]
19. ABCG5 and ABCG8 genetic variants in familial hypercholesterolemia.
Reeskamp LF; Volta A; Zuurbier L; Defesche JC; Hovingh GK; Grefhorst A
J Clin Lipidol; 2020; 14(2):207-217.e7. PubMed ID: 32088153
[TBL] [Abstract][Full Text] [Related]
20. Heterozygous familial hypercholesterolemia in children: low-density lipoprotein receptor mutational analysis and variation in the expression of plasma lipoprotein-lipid concentrations.
Torres AL; Moorjani S; Vohl MC; Gagné C; Lamarche B; Brun LD; Lupien PJ; Després JP
Atherosclerosis; 1996 Sep; 126(1):163-71. PubMed ID: 8879444
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
