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2. Spectrum of mutations in index patients with familial hypercholesterolemia in Singapore: Single center study. Pek SLT; Dissanayake S; Fong JCW; Lin MX; Chan EZL; Tang JI; Lee CW; Ong HY; Sum CF; Lim SC; Tavintharan S Atherosclerosis; 2018 Feb; 269():106-116. PubMed ID: 29353225 [TBL] [Abstract][Full Text] [Related]
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6. 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]
7. Identification of a novel LDLR disease-causing variant using capture-based next-generation sequencing screening of familial hypercholesterolemia patients in Taiwan. Hsiung YC; Lin PC; Chen CS; Tung YC; Yang WS; Chen PL; Su TC Atherosclerosis; 2018 Oct; 277():440-447. PubMed ID: 30270083 [TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. Homozygous Familial Hypercholesterolemia in Spain: Prevalence and Phenotype-Genotype Relationship. Sánchez-Hernández RM; Civeira F; Stef M; Perez-Calahorra S; Almagro F; Plana N; Novoa FJ; Sáenz-Aranzubía P; Mosquera D; Soler C; Fuentes FJ; Brito-Casillas Y; Real JT; Blanco-Vaca F; Ascaso JF; Pocovi M Circ Cardiovasc Genet; 2016 Dec; 9(6):504-510. PubMed ID: 27784735 [TBL] [Abstract][Full Text] [Related]
11. Causative mutations and premature cardiovascular disease in patients with heterozygous familial hypercholesterolaemia. Rubba P; Gentile M; Marotta G; Iannuzzi A; Sodano M; De Simone B; Jossa F; Iannuzzo G; Giacobbe C; Di Taranto MD; Fortunato G Eur J Prev Cardiol; 2017 Jul; 24(10):1051-1059. PubMed ID: 28353356 [TBL] [Abstract][Full Text] [Related]
12. Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study. Pirillo A; Garlaschelli K; Arca M; Averna M; Bertolini S; Calandra S; Tarugi P; Catapano AL; Atheroscler Suppl; 2017 Oct; 29():17-24. PubMed ID: 28965616 [TBL] [Abstract][Full Text] [Related]
13. 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]
14. Cascade Screening for Familial Hypercholesterolemia in South Africa: The Wits FIND-FH Program. Raal FJ; Bahassi EM; Stevens B; Turner TA; Stein EA Arterioscler Thromb Vasc Biol; 2020 Nov; 40(11):2747-2755. PubMed ID: 32878475 [TBL] [Abstract][Full Text] [Related]
15. Evaluation of polygenic cause in Korean patients with familial hypercholesterolemia - A study supported by Korean Society of Lipidology and Atherosclerosis. Kwon M; Han SM; Kim DI; Rhee MY; Lee BK; Ahn YK; Cho BR; Woo J; Hur SH; Jeong JO; Jang Y; Lee SH; Lee JH Atherosclerosis; 2015 Sep; 242(1):8-12. PubMed ID: 26160041 [TBL] [Abstract][Full Text] [Related]
16. 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]
17. Effect of mutations in LDLR and PCSK9 genes on phenotypic variability in Tunisian familial hypercholesterolemia patients. Slimani A; Jelassi A; Jguirim I; Najah M; Rebhi L; Omezzine A; Maatouk F; Hamda KB; Kacem M; Rabès JP; Abifadel M; Boileau C; Rouis M; Slimane MN; Varret M Atherosclerosis; 2012 May; 222(1):158-66. PubMed ID: 22417841 [TBL] [Abstract][Full Text] [Related]
18. Genetic Architecture of Familial Hypercholesterolaemia. Sharifi M; Futema M; Nair D; Humphries SE Curr Cardiol Rep; 2017 May; 19(5):44. PubMed ID: 28405938 [TBL] [Abstract][Full Text] [Related]
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20. Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia. Khera AV; Won HH; Peloso GM; Lawson KS; Bartz TM; Deng X; van Leeuwen EM; Natarajan P; Emdin CA; Bick AG; Morrison AC; Brody JA; Gupta N; Nomura A; Kessler T; Duga S; Bis JC; van Duijn CM; Cupples LA; Psaty B; Rader DJ; Danesh J; Schunkert H; McPherson R; Farrall M; Watkins H; Lander E; Wilson JG; Correa A; Boerwinkle E; Merlini PA; Ardissino D; Saleheen D; Gabriel S; Kathiresan S J Am Coll Cardiol; 2016 Jun; 67(22):2578-89. PubMed ID: 27050191 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]