These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
123 related articles for article (PubMed ID: 12910492)
21. R3531C mutation in the apolipoprotein B gene is not sufficient to cause hypercholesterolemia. Rabès JP; Varret M; Devillers M; Aegerter P; Villéger L; Krempf M; Junien C; Boileau C Arterioscler Thromb Vasc Biol; 2000 Oct; 20(10):E76-82. PubMed ID: 11031227 [TBL] [Abstract][Full Text] [Related]
22. Genetic diagnosis of familial hypercholesterolemia in a South European outbreed population: influence of low-density lipoprotein (LDL) receptor gene mutations on treatment response to simvastatin in total, LDL, and high-density lipoprotein cholesterol. Chaves FJ; Real JT; García-García AB; Civera M; Armengod ME; Ascaso JF; Carmena R J Clin Endocrinol Metab; 2001 Oct; 86(10):4926-32. PubMed ID: 11600564 [TBL] [Abstract][Full Text] [Related]
23. Lipid phenotype and heritage pattern in families with genetic hypercholesterolemia not related to LDLR, APOB, PCSK9, or APOE. Jarauta E; Pérez-Ruiz MR; Pérez-Calahorra S; Mateo-Gallego R; Cenarro A; Cofán M; Ros E; Civeira F; Tejedor MT J Clin Lipidol; 2016; 10(6):1397-1405.e2. PubMed ID: 27919357 [TBL] [Abstract][Full Text] [Related]
25. Intrafamilial variability in the clinical expression of familial hypercholesterolemia: importance of risk factor determination for genetic counselling. Kotze MJ; Davis HJ; Bissbort S; Langenhoven E; Brusnicky J; Oosthuizen CJ Clin Genet; 1993 Jun; 43(6):295-9. PubMed ID: 8370148 [TBL] [Abstract][Full Text] [Related]
26. 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]
27. 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]
29. Impact of LDLR and PCSK9 pathogenic variants in Japanese heterozygous familial hypercholesterolemia patients. Hori M; Ohta N; Takahashi A; Masuda H; Isoda R; Yamamoto S; Son C; Ogura M; Hosoda K; Miyamoto Y; Harada-Shiba M Atherosclerosis; 2019 Oct; 289():101-108. PubMed ID: 31491741 [TBL] [Abstract][Full Text] [Related]
30. Comparison of the effect of two low-density lipoprotein receptor class mutations on coronary heart disease among French-Canadian patients heterozygous for familial hypercholesterolaemia. Vohl MC; Gaudet D; Moorjani S; Tremblay G; Perron P; Gagné C; Lesiège D; Bergeron J; Lupien PJ; Després JP Eur J Clin Invest; 1997 May; 27(5):366-73. PubMed ID: 9179542 [TBL] [Abstract][Full Text] [Related]
31. Rare intracranial cholesterol deposition and a homozygous mutation of LDLR in a familial hypercholesterolemia patient. Li H; Zhang Y; Wei X; Peng Y; Yang P; Tan H; Chen C; Pan Q; Liang D; Wu L Gene; 2015 Sep; 569(2):313-7. PubMed ID: 25936346 [TBL] [Abstract][Full Text] [Related]
32. Variable and Severe Phenotypic Expression of the "Lebanese Allele" in Two Sisters with Familial Hypercholesterolemia. Chahine J; Kreykes S; Van't Hof JR; Duprez D; Nijjar P Vasc Health Risk Manag; 2021; 17():415-419. PubMed ID: 34321884 [TBL] [Abstract][Full Text] [Related]
33. Association of an exon 3 mutation (Trp66-->Gly) of the LDL receptor with variable expression of familial hypercholesterolemia in a French Canadian family. Levy E; Minnich A; Cacan SL; Thibault L; Giroux LM; Davignon J; Lambert M Biochem Mol Med; 1997 Feb; 60(1):59-69. PubMed ID: 9066982 [TBL] [Abstract][Full Text] [Related]
34. Mutations in the gene for lipoprotein lipase. A cause for low HDL cholesterol levels in individuals heterozygous for familial hypercholesterolemia. Pimstone SN; Gagné SE; Gagné C; Lupien PJ; Gaudet D; Williams RR; Kotze M; Reymer PW; Defesche JC; Kastelein JJ Arterioscler Thromb Vasc Biol; 1995 Oct; 15(10):1704-12. PubMed ID: 7583547 [TBL] [Abstract][Full Text] [Related]
35. A novel LDLR mutation, H190Y, in a Utah kindred with familial hypercholesterolemia. Hopkins PN; Wu LL; Stephenson SH; Xin Y; Katsumata H; Nobe Y; Nakajima T; Hirayama T; Emi M; Williams RR J Hum Genet; 1999; 44(6):364-7. PubMed ID: 10570905 [TBL] [Abstract][Full Text] [Related]
36. [Identification of a novel mutation at the point of low density lipoprotein receptor gene from a subject with familial hypercholesterolemia]. Liu YR; Tao QM; Chen JZ; Tao M; Guo XG; Shang YP; Zhu JH; Zhang FR; Zheng LR; Wang XX Sheng Li Xue Bao; 2004 Oct; 56(5):566-72. PubMed ID: 15497035 [TBL] [Abstract][Full Text] [Related]
37. A functional polymorphism in the promoter region of the microsomal triglyceride transfer protein (MTP -493G/T) influences lipoprotein phenotype in familial hypercholesterolemia. Björn Lundahl ; Leren TP; Ose L; Hamsten A; Karpe F Arterioscler Thromb Vasc Biol; 2000 Jul; 20(7):1784-8. PubMed ID: 10894817 [TBL] [Abstract][Full Text] [Related]
38. 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]
39. Type III dyslipoproteinemia in patients heterozygous for familial hypercholesterolemia and apolipoprotein E2. Evidence for a gene-gene interaction. Hopkins PN; Wu LL; Schumacher MC; Emi M; Hegele RM; Hunt SC; Lalouel JM; Williams RR Arterioscler Thromb; 1991; 11(5):1137-46. PubMed ID: 1680391 [TBL] [Abstract][Full Text] [Related]
40. Evidence for a cholesterol-lowering gene in a French-Canadian kindred with familial hypercholesterolemia. Sass C; Giroux LM; Ma Y; Roy M; Lavigne J; Lussier-Cacan S; Davignon J; Minnich A Hum Genet; 1995 Jul; 96(1):21-6. PubMed ID: 7607649 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]