The molecular basis of familial hypercholesterolemia in The Netherlands
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J. Kastelein | J. Defesche | Joep C. Defesche | John J. Kastelein | Sigrid W. Fouchier | Marina A. Umans-Eckenhausen | S. Fouchier | M. Umans-Eckenhausen
[1] K Kontula,et al. Familial hypercholesterolemia in the Finnish north Karelia. A molecular, clinical, and genealogical study. , 1997, Arteriosclerosis, thrombosis, and vascular biology.
[2] S. Humphries,et al. Evidence for a third genetic locus causing familial hypercholesterolemia. A non-LDLR, non-APOB kindred. , 1999, Journal of lipid research.
[3] M. Manns,et al. Mutation analysis in 46 German families with familial hypercholesterolemia: identification of 8 new mutations. Mutations in brief no. 226. Online. , 1999 .
[4] L. V. Van Gaal,et al. Phenotypic expression and frequency of familial defective apolipoprotein B-100 in Belgian hypercholesterolemics. , 1994, Atherosclerosis.
[5] M. Nagano,et al. Identification of recurrent and novel mutations in the LDL receptor gene in Japanese familial hypercholesterolemia , 1999 .
[6] J. Després,et al. Identification of three mutations in the low‐density lipoprotein receptor gene causing familial hypercholesterolemia among French Canadians , 1998, Human mutation.
[7] J. Després,et al. 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. , 1999, Atherosclerosis.
[8] S. Humphries,et al. Analysis of low density lipoprotein receptor gene mutations and microsatellite haplotypes in Greek FH heterozygous children: six independent ancestors account for 60% of probands , 1998, Human Genetics.
[9] H. Hobbs,et al. The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein. , 1990, Annual review of genetics.
[10] S. Tonstad,et al. Molecular genetics of familial hypercholesterolaemia in Norway , 1997, Journal of internal medicine.
[11] P. Guldberg,et al. Clinically applicable mutation screening in familial hypercholesterolemia , 1996, Human mutation.
[12] M. Hayden,et al. 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. , 1998, Arteriosclerosis, thrombosis, and vascular biology.
[13] A. Marais,et al. Founder mutations in the LDL receptor gene contribute significantly to the familial hypercholesterolemia phenotype in the indigenous South African population of mixed ancestry , 1999, Clinical genetics.
[14] M. Hayden,et al. Detection of the Pro664‐Leu mutation in the low‐density lipoprotein receptor and its relation to lipoprotein(a) levels in patients with familial hypercholesterolemia of Dutch ancestry from The Netherlands and Canada , 1992, Clinical genetics.
[15] Abrahamson,et al. Mutations in the low‐density lipoprotein receptor gene in Swedish familial hypercholesterolaemia patients: clinical expression and treatment response , 1998, European journal of clinical investigation.
[16] H. Hobbs,et al. Deletion in the gene for the low-density-lipoprotein receptor in a majority of French Canadians with familial hypercholesterolemia. , 1987, The New England journal of medicine.
[17] P. Guldberg,et al. Evaluation of a clinically applicable mutation screening technique for genetic diagnosis of familial hypercholesterolemia and familial defective apolipoprotein B , 1998, Clinical genetics.
[18] R. Westendorp,et al. Additional risk factors influence excess mortality in heterozygous familial hypercholesterolaemia. , 2000, Atherosclerosis.
[19] M. Hayden,et al. Differences in the phenotype between children with familial defective apolipoprotein B-100 and familial hypercholesterolemia. , 1997, Arteriosclerosis, thrombosis, and vascular biology.
[20] C. Junien,et al. A third major locus for autosomal dominant hypercholesterolemia maps to 1p34.1-p32. , 1999, American journal of human genetics.
[21] S E Humphries,et al. Low-density lipoprotein receptor gene (LDLR) world-wide website in familial hypercholesterolaemia: update, new features and mutation analysis. , 2001, Atherosclerosis.
[22] I. Young,et al. Three novel mutations in the EGF precursor homology domain of the low‐density lipoprotein receptor gene in Northern Irish patients with familial hypercholesterolemia , 1995, Human mutation.
[23] P. Van Acker,et al. Low‐density lipoprotein receptor gene mutations in a Southeast Asian population with familial hypercholesterolemia , 2000, Clinical genetics.
[24] N. Gregersen,et al. An alanine29‐serine variant in exon 2 of the low density lipoprotein receptor gene: no association with hypercholesterolemia , 1994, Clinical genetics.
[25] E. Sijbrands,et al. Mutations in the low density lipoprotein receptor gene of familial hypercholesterolemic patients detected by denaturing gradient gel electrophoresis and direct sequencing. , 1995, Journal of lipid research.
[26] J. Deslypere,et al. High prevalence of a novel mutation in the exon 4 of the low‐density lipoprotein receptor gene causing familial hypercholesterolemia in Belgium , 1997, Clinical genetics.
[27] J. Viikari,et al. Molecular characterization of minor gene rearrangements in Finnish patients with heterozygous familial hypercholesterolemia: identification of two common missense mutations (Gly823-->Asp and Leu380-->His) and eight rare mutations of the LDL receptor gene. , 1995, American journal of human genetics.
[28] M. Ruiz-Galdón,et al. The genotype interactions of methylenetetrahydrofolate reductase and renin-angiotensin system genes are associated with myocardial infarction. , 1999, Atherosclerosis.
[29] D. Rubinsztein,et al. Two novel point mutations causing receptor-negative familial hypercholesterolemia in a South African Indian homozygote. , 1996, Atherosclerosis.
[30] D. Russell,et al. The human LDL receptor: A cysteine-rich protein with multiple Alu sequences in its mRNA , 1984, Cell.
[31] C. Boileau,et al. Mutation analysis in a small cohort of New Zealand patients originating from the United Kingdom demonstrates genetic heterogeneity in familial hypercholesterolemia. , 2000, Molecular and cellular probes.
[32] R. Safadi,et al. Molecular genetics of familial hypercholesterolemia in Israel , 1996, Human Genetics.
[33] B. Tomlinson,et al. Mutations in the low-density lipoprotein receptor gene in Chinese familial hypercholesterolemia patients. , 1998, Arteriosclerosis, thrombosis, and vascular biology.
[34] L. Havekes,et al. A novel mutation M‐21V in exon 1 of the low density lipoprotein receptor gene causing familial hypercholesterolemia , 1997, Clinical genetics.
[35] O. Faergeman,et al. Spectrum of LDL receptor gene mutations in Denmark: implications for molecular diagnostic strategy in heterozygous familial hypercholesterolemia. , 1999, Atherosclerosis.
[36] M. Arca,et al. Low density lipoprotein receptor mutations in a selected population of individuals with moderate hypercholesterolemia. , 1998, Atherosclerosis.
[37] M. Kotze,et al. The identification of two low-density lipoprotein receptor gene mutations in South African familial hypercholesterolaemia. , 1989, South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde.
[38] D. Guernsey,et al. A novel mutation in Exon 4 of the low density lipoprotein receptor gene resulting in heterozygous familial hypercholesterolemia associated with decreased ligand binding. , 1998, Atherosclerosis.
[39] T. Foulon,et al. Identification of a mutation, N543H, in exon 11 of the low‐density lipoprotein receptor gene in a French family with familial hypercholesterolemia , 1995, Human mutation.
[40] E. Sijbrands,et al. Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands , 2001, The Lancet.
[41] M. Trip,et al. Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in the Netherlands , 2000, Clinical genetics.
[42] F. Raal,et al. CpG hotspot mutations at the LDL receptor locus are a frequent cause of familial hypercholesterolemia among South African Indians , 1997, Clinical Genetics.
[43] B. Guy-grand,et al. Evidence for a cholesteryl ester donor activity of LDL particles during alimentary lipemia in normolipidemic subjects. , 1999, Atherosclerosis.
[44] M. Hayden,et al. Familial defective apolipoprotein B-100 is clinically indistinguishable from familial hypercholesterolemia. , 1993, Archives of internal medicine.
[45] R. Müllenbach,et al. An efficient salt-chloroform extraction of DNA from blood and tissues. , 1989, Trends in genetics : TIG.
[46] L. Havekes,et al. Mutational and genetic origin of LDL receptor gene mutations detected in both Belgian and Dutch familial hypercholesterolemics , 1997, Human Genetics.
[47] M. Manns,et al. Mutation analysis in 46 German families with familial hypercholesterolemia: Identification of 8 new mutations , 1999, Human mutation.
[48] J W Jukema,et al. The role of a common variant of the cholesteryl ester transfer protein gene in the progression of coronary atherosclerosis. The Regression Growth Evaluation Statin Study Group. , 1998, The New England journal of medicine.
[49] J J Kastelein,et al. Mortality over two centuries in large pedigree with familial hypercholesterolaemia: family tree mortality study. , 2001, BMJ : British Medical Journal.
[50] I. Young,et al. Mutation screening and genotype:phenotype correlation in familial hypercholesterolaemia. , 1999, Atherosclerosis.
[51] K. Kontula,et al. Familial Hypercholes terolemia , 1996 .
[52] M. Skolnick,et al. Genetic localization to chromosome 1p32 of the third locus for familial hypercholesterolemia in a Utah kindred. , 2000, Arteriosclerosis, thrombosis, and vascular biology.
[53] H. Hobbs,et al. Molecular genetics of the LDL receptor gene in familial hypercholesterolemia , 1992, Human mutation.
[54] V. Gudnason,et al. Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia , 1997, Human mutation.
[55] I. Rabbone,et al. Clinical Expression of Familial Hypercholesterolemia in Clusters of Mutations of the LDL Receptor Gene That Cause a Receptor-Defective or Receptor-Negative Phenotype , 2000, Arteriosclerosis, thrombosis, and vascular biology.
[56] W. März,et al. 1.P.257 Mutations in the genes encoding the low-density lipoprotein receptor and apolipoprotein B in Southwest Germany , 1997 .
[57] J. Boer,et al. Lipid profiles reflecting high and low risk for coronary heart disease: contribution of apolipoprotein E polymorphism and lifestyle. , 1998, Atherosclerosis.
[58] R. Frants,et al. Rearrangements in the LDL receptor gene in Dutch familial hypercholesterolemic patients and the presence of a common 4 kb deletion. , 1990, Atherosclerosis.
[59] J. Lubiński,et al. LDL-R and Apo-B-100 gene mutations in Polish familial hypercholesterolemias , 1998, Human Genetics.
[60] M. Nagano,et al. Identification of recurrent and novel mutations in the LDL receptor gene in Japanese familial hypercholesterolemia. Mutation in brief no. 248. Online. , 1999, Human mutation.
[61] J. Boer,et al. Two common mutations (D9N, N291S) in lipoprotein lipase: a cumulative analysis of their influence on plasma lipids and lipoproteins in men and women , 1999, Clinical genetics.
[62] A. Soutar,et al. Expression of an LDL receptor allele with two different mutations (E256K and I402T) , 2000, Molecular pathology : MP.