152 related articles for article (PubMed ID: 30270084)
1. Further evidence of novel APOB mutations as a cause of familial hypercholesterolaemia.
Alves AC; Benito-Vicente A; Medeiros AM; Reeves K; Martin C; Bourbon M
Atherosclerosis; 2018 Oct; 277():448-456. PubMed ID: 30270084
[TBL] [Abstract][Full Text] [Related]
2. Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia.
Alves AC; Etxebarria A; Soutar AK; Martin C; Bourbon M
Hum Mol Genet; 2014 Apr; 23(7):1817-28. PubMed ID: 24234650
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. The genetic spectrum of familial hypercholesterolemia in the central south region of China.
Xiang R; Fan LL; Lin MJ; Li JJ; Shi XY; Jin JY; Liu YX; Chen YQ; Xia K; Zhao SP
Atherosclerosis; 2017 Mar; 258():84-88. PubMed ID: 28235710
[TBL] [Abstract][Full Text] [Related]
6. The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations.
Tichý L; Freiberger T; Zapletalová P; Soška V; Ravčuková B; Fajkusová L
Atherosclerosis; 2012 Aug; 223(2):401-8. PubMed ID: 22698793
[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. The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark.
Jensen HK
Dan Med Bull; 2002 Nov; 49(4):318-45. PubMed ID: 12553167
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Mutational analysis and genotype-phenotype relation in familial hypercholesterolemia: The SAFEHEART registry.
Bourbon M; Alves AC; Alonso R; Mata N; Aguiar P; Padró T; Mata P
Atherosclerosis; 2017 Jul; 262():8-13. PubMed ID: 28475941
[TBL] [Abstract][Full Text] [Related]
11. Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with increased LDL-C levels in a latvian population.
Radovica-Spalvina I; Latkovskis G; Silamikelis I; Fridmanis D; Elbere I; Ventins K; Ozola G; Erglis A; Klovins J
BMC Med Genet; 2015 Sep; 16():86. PubMed ID: 26415676
[TBL] [Abstract][Full Text] [Related]
12. Relationship of Familial Hypercholesterolemia and High Low-Density Lipoprotein Cholesterol to Ischemic Stroke: Copenhagen General Population Study.
Beheshti S; Madsen CM; Varbo A; Benn M; Nordestgaard BG
Circulation; 2018 Aug; 138(6):578-589. PubMed ID: 29593013
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Lipid and lipoprotein parameters for detection of familial hypercholesterolemia in childhood. The DECOPIN Project.
Plana N; Rodríguez-Borjabad C; Ibarretxe D; Ferré R; Feliu A; Caselles A; Masana L;
Clin Investig Arterioscler; 2018; 30(4):170-178. PubMed ID: 29602595
[TBL] [Abstract][Full Text] [Related]
15. Use of the denaturing gradient gel electrophoresis (DGGE) method for mutational screening of patients with familial hypercholesterolaemia (FH) and Familial defective apolipoprotein B100 (FDB).
Azian M; Hapizah MN; Khalid BA; Khalid Y; Rosli A; Jamal R
Malays J Pathol; 2006 Jun; 28(1):7-15. PubMed ID: 17694954
[TBL] [Abstract][Full Text] [Related]
16. Genetic analysis of familial hypercholesterolaemia in Western Australia.
Hooper AJ; Nguyen LT; Burnett JR; Bates TR; Bell DA; Redgrave TG; Watts GF; van Bockxmeer FM
Atherosclerosis; 2012 Oct; 224(2):430-4. PubMed ID: 22883975
[TBL] [Abstract][Full Text] [Related]
17. Genetic diagnosis of familial hypercholesterolaemia using a rapid biochip array assay for 40 common LDLR, APOB and PCSK9 mutations.
Martin R; Latten M; Hart P; Murray H; Bailie DA; Crockard M; Lamont J; Fitzgerald P; Graham CA
Atherosclerosis; 2016 Nov; 254():8-13. PubMed ID: 27680772
[TBL] [Abstract][Full Text] [Related]
18. Structural analysis of APOB variants, p.(Arg3527Gln), p.(Arg1164Thr) and p.(Gln4494del), causing Familial Hypercholesterolaemia provides novel insights into variant pathogenicity.
Fernández-Higuero JA; Etxebarria A; Benito-Vicente A; Alves AC; Arrondo JL; Ostolaza H; Bourbon M; Martin C
Sci Rep; 2015 Dec; 5():18184. PubMed ID: 26643808
[TBL] [Abstract][Full Text] [Related]
19. Clinical experience of scoring criteria for Familial Hypercholesterolaemia (FH) genetic testing in Wales.
Haralambos K; Whatley SD; Edwards R; Gingell R; Townsend D; Ashfield-Watt P; Lansberg P; Datta DB; McDowell IF
Atherosclerosis; 2015 May; 240(1):190-6. PubMed ID: 25797312
[TBL] [Abstract][Full Text] [Related]
20. Effects of familial hypercholesterolemia-associated genes on the phenotype of premature myocardial infarction.
Lee C; Cui Y; Song J; Li S; Zhang F; Wu M; Li L; Hu D; Chen H
Lipids Health Dis; 2019 Apr; 18(1):95. PubMed ID: 30971288
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
