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5. Clinical characterization and mutation spectrum of German patients with familial hypercholesterolemia. Grenkowitz T; Kassner U; Wühle-Demuth M; Salewsky B; Rosada A; Zemojtel T; Hopfenmüller W; Isermann B; Borucki K; Heigl F; Laufs U; Wagner S; Kleber ME; Binner P; März W; Steinhagen-Thiessen E; Demuth I Atherosclerosis; 2016 Oct; 253():88-93. PubMed ID: 27596133 [TBL] [Abstract][Full Text] [Related]
6. 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]
7. DIAgnosis and Management Of familial hypercholesterolemia in a Nationwide Design (DIAMOND-FH): Prevalence in Switzerland, clinical characteristics and the diagnostic value of clinical scores. Miserez AR; Martin FJ; Spirk D Atherosclerosis; 2018 Oct; 277():282-288. PubMed ID: 30270060 [TBL] [Abstract][Full Text] [Related]
8. The familial hypercholesterolaemia phenotype: Monogenic familial hypercholesterolaemia, polygenic hypercholesterolaemia and other causes. Mariano C; Alves AC; Medeiros AM; Chora JR; Antunes M; Futema M; Humphries SE; Bourbon M Clin Genet; 2020 Mar; 97(3):457-466. PubMed ID: 31893465 [TBL] [Abstract][Full Text] [Related]
9. 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]
10. Unraveling the genetic background of individuals with a clinical familial hypercholesterolemia phenotype. Medeiros AM; Alves AC; Miranda B; Chora JR; Bourbon M; J Lipid Res; 2024 Feb; 65(2):100490. PubMed ID: 38122934 [TBL] [Abstract][Full Text] [Related]
11. 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]
12. Analysis of Children and Adolescents with Familial Hypercholesterolemia. Minicocci I; Pozzessere S; Prisco C; Montali A; di Costanzo A; Martino E; Martino F; Arca M J Pediatr; 2017 Apr; 183():100-107.e3. PubMed ID: 28161202 [TBL] [Abstract][Full Text] [Related]
13. Influence of LDL receptor gene mutations and the R3500Q mutation of the apoB gene on lipoprotein phenotype of familial hypercholesterolemic patients from a South European population. Real JT; Chaves FJ; Ejarque I; García-García AB; Valldecabres C; Ascaso JF; Armengod ME; Carmena R Eur J Hum Genet; 2003 Dec; 11(12):959-65. PubMed ID: 14508510 [TBL] [Abstract][Full Text] [Related]
14. Identification of New Genetic Determinants in Pediatric Patients with Familial Hypercholesterolemia Using a Custom NGS Panel. Rutkowska L; Sałacińska K; Salachna D; Matusik P; Pinkier I; Kępczyński Ł; Piotrowicz M; Starostecka E; Lewiński A; Gach A Genes (Basel); 2022 Jun; 13(6):. PubMed ID: 35741760 [TBL] [Abstract][Full Text] [Related]
15. Effects of Genetic Variants Associated with Familial Hypercholesterolemia on Low-Density Lipoprotein-Cholesterol Levels and Cardiovascular Outcomes in the Million Veteran Program. Sun YV; Damrauer SM; Hui Q; Assimes TL; Ho YL; Natarajan P; Klarin D; Huang J; Lynch J; DuVall SL; Pyarajan S; Honerlaw JP; Gaziano JM; Cho K; Rader DJ; O'Donnell CJ; Tsao PS; Wilson PWF Circ Genom Precis Med; 2018 Dec; 11(12):. PubMed ID: 31106297 [TBL] [Abstract][Full Text] [Related]
17. Mutational heterogeneity in low-density lipoprotein receptor gene related to familial hypercholesterolemia in Morocco. Chater R; Aït Chihab K; Rabès JP; Varret M; Chabraoui L; El Jahiri Y; Adlouni A; Boileau C; Kettani A; El Messal M Clin Chim Acta; 2006 Nov; 373(1-2):62-9. PubMed ID: 16806138 [TBL] [Abstract][Full Text] [Related]
18. Proprotein convertase subtilisin/kexin 9 V4I variant with LDLR mutations modifies the phenotype of familial hypercholesterolemia. Ohta N; Hori M; Takahashi A; Ogura M; Makino H; Tamanaha T; Fujiyama H; Miyamoto Y; Harada-Shiba M J Clin Lipidol; 2016; 10(3):547-555.e5. PubMed ID: 27206942 [TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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] [Next] [New Search]