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6. Relationship between apolipoprotein(a) phenotype, lipoprotein(a) concentration in plasma, and low density lipoprotein receptor function in a large kindred with familial hypercholesterolemia due to the pro664----leu mutation in the LDL receptor gene. Soutar AK; McCarthy SN; Seed M; Knight BL J Clin Invest; 1991 Aug; 88(2):483-92. PubMed ID: 1830890 [TBL] [Abstract][Full Text] [Related]
7. Phenotypic heterogeneity associated with defective apolipoprotein B-100 and occurrence of the familial hypercholesterolemia phenotype in the absence of an LDL-receptor defect within a Canadian kindred. Davignon J; Dufour R; Roy M; Bétard C; Ma Y; Ouellette S; Boulet L; Lussier-Cacan S Eur J Epidemiol; 1992 May; 8 Suppl 1():10-7. PubMed ID: 1505645 [TBL] [Abstract][Full Text] [Related]
8. Genetics and kinetics of familial hypercholesterolemia, with the special focus on FH-(Marburg) p.W556R. Soufi M; Kurt B; Schweer H; Sattler AM; Klaus G; Zschocke J; Schaefer JR Atheroscler Suppl; 2009 Dec; 10(5):5-11. PubMed ID: 20129366 [TBL] [Abstract][Full Text] [Related]
9. Interaction between the LDL-receptor gene bearing a novel mutation and a variant in the apolipoprotein A-II promoter: molecular study in a 1135-member familial hypercholesterolemia kindred. Takada D; Emi M; Ezura Y; Nobe Y; Kawamura K; Iino Y; Katayama Y; Xin Y; Wu LL; Larringa-Shum S; Stephenson SH; Hunt SC; Hopkins PN J Hum Genet; 2002; 47(12):656-64. PubMed ID: 12522687 [TBL] [Abstract][Full Text] [Related]
10. Serum low density lipoprotein cholesterol level and cholesterol absorption efficiency are influenced by apolipoprotein B and E polymorphism and by the FH-Helsinki mutation of the low density lipoprotein receptor gene in familial hypercholesterolemia. Gylling H; Aalto-Setälä K; Kontula K; Miettinen TA Arterioscler Thromb; 1991; 11(5):1368-75. PubMed ID: 1911722 [TBL] [Abstract][Full Text] [Related]
11. A Chinese homozygote of familial hypercholesterolemia: identification of a novel C263R mutation in the LDL receptor gene. Wang D; Wu B; Li Y; Heng W; Zhong H; Mu Y; Wang J J Hum Genet; 2001; 46(3):152-4. PubMed ID: 11310584 [TBL] [Abstract][Full Text] [Related]
12. A double mutant [N543H+2393del9] allele in the LDL receptor gene in familial hypercholesterolemia: effect on plasma cholesterol levels and cardiovascular disease. Castillo S; Reyes G; Tejedor D; Mozas P; Suarez Y; Lasuncion MA; Cenarro A; Civeira F; Alonso R; Mata P; Pocovi M; Hum Mutat; 2002 Dec; 20(6):477. PubMed ID: 12442279 [TBL] [Abstract][Full Text] [Related]
13. 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]
14. Contribution of receptor negative versus receptor defective mutations in the LDL-receptor gene to angiographically assessed coronary artery disease among young (25-49 years) versus middle-aged (50-64 years) men. Gaudet D; Vohl MC; Couture P; Moorjani S; Tremblay G; Perron P; Gagné C; Després JP Atherosclerosis; 1999 Mar; 143(1):153-61. PubMed ID: 10208490 [TBL] [Abstract][Full Text] [Related]
15. [Genotype-phenotype analysis of a homozygous familial hypercholesterolemia pedigree]. Wang DY; Zhang YM; Che FY; Chu JP; Zhang LY; Li H; Liu BL; Yao ZY; Zhao YW Zhonghua Er Ke Za Zhi; 2020 Feb; 58(2):101-106. PubMed ID: 32102145 [No Abstract] [Full Text] [Related]
16. Familial hypercholesterolemia: molecular, biochemical, and clinical characterization of a French-Canadian pediatric population. Assouline L; Levy E; Feoli-Fonseca JC; Godbout C; Lambert M Pediatrics; 1995 Aug; 96(2 Pt 1):239-46. PubMed ID: 7630677 [TBL] [Abstract][Full Text] [Related]
17. Differences in the phenotype between children with familial defective apolipoprotein B-100 and familial hypercholesterolemia. Pimstone SN; Defesche JC; Clee SM; Bakker HD; Hayden MR; Kastelein JJ Arterioscler Thromb Vasc Biol; 1997 May; 17(5):826-33. PubMed ID: 9157944 [TBL] [Abstract][Full Text] [Related]
18. Phenotypic variation in heterozygous familial hypercholesterolemia: a comparison of Chinese patients with the same or similar mutations in the LDL receptor gene in China or Canada. Pimstone SN; Sun XM; du Souich C; Frohlich JJ; Hayden MR; Soutar AK Arterioscler Thromb Vasc Biol; 1998 Feb; 18(2):309-15. PubMed ID: 9484998 [TBL] [Abstract][Full Text] [Related]
19. Influence of apolipoprotein E genotypes on plasma lipid and lipoprotein concentrations: results from a segregation analysis in pedigrees with molecularly defined familial hypercholesterolemia. Friedlander Y; Leitersdorf E Genet Epidemiol; 1996; 13(2):159-77. PubMed ID: 8722744 [TBL] [Abstract][Full Text] [Related]
20. Lp(a) levels and atherosclerotic vascular disease in a sample of patients with familial hypercholesterolemia sharing the same gene defect. Carmena R; Lussier-Cacan S; Roy M; Minnich A; Lingenhel A; Kronenberg F; Davignon J Arterioscler Thromb Vasc Biol; 1996 Jan; 16(1):129-36. PubMed ID: 8548413 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]