메뉴 건너뛰기




Volumn 43, Issue 6, 2006, Pages 441-456

Diagnosis and screening for familial hypercholesterolaemia: Finding the patients, finding the genes

Author keywords

[No Author keywords available]

Indexed keywords

CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR;

EID: 33751319679     PISSN: 00045632     EISSN: 00045632     Source Type: Journal    
DOI: 10.1258/000456306778904641     Document Type: Review
Times cited : (27)

References (187)
  • 1
    • 0001522821 scopus 로고
    • Uber die Wirkung des Tierischen Eiweisses auf die Aorta und die paerenchymatosen Organe der Kaninchen
    • Ignatowski A. Uber die Wirkung des Tierischen Eiweisses auf die Aorta und die paerenchymatosen Organe der Kaninchen. Virchows Arch Pathol Anat 1909; 198: 248-70
    • (1909) Virchows Arch Pathol Anat , vol.198 , pp. 248-270
    • Ignatowski, A.1
  • 2
    • 0017142589 scopus 로고
    • The development of Svedberg's ultracentrifuge
    • Pedersen KO. The development of Svedberg's ultracentrifuge. Biophys Chem 1976; 5: 3-18
    • (1976) Biophys Chem , vol.5 , pp. 3-18
    • Pedersen, K.O.1
  • 3
    • 0001727062 scopus 로고
    • The serum lipoprotein transport system in health, metabolic disorders, atherosclerosis and coronary artery disease
    • Gofman JW, De Lalla O, Glazier F, et al. The serum lipoprotein transport system in health, metabolic disorders, atherosclerosis and coronary artery disease. Plasma 1954; 2: 413-84
    • (1954) Plasma , vol.2 , pp. 413-484
    • Gofman, J.W.1    De Lalla, O.2    Glazier, F.3
  • 4
    • 0006003583 scopus 로고
    • A contribution to the study of the etiology of xanthoma
    • Burns FS. A contribution to the study of the etiology of xanthoma. Arch Derm Syph 1920; 2: 415-29
    • (1920) Arch Derm Syph , vol.2 , pp. 415-429
    • Burns, F.S.1
  • 5
    • 0001584433 scopus 로고
    • Angina pectoris in hereditary xanthomatosis
    • Muller C. Angina pectoris in hereditary xanthomatosis. Arch Intern Med 1939; 64: 675-700
    • (1939) Arch Intern Med , vol.64 , pp. 675-700
    • Muller, C.1
  • 6
    • 0001705068 scopus 로고
    • The different clinical groups of xanthomatous diseases: A clinical physiological study of 22 cases
    • Thannhauser SJ, Magendanta H. The different clinical groups of xanthomatous diseases: a clinical physiological study of 22 cases. Ann Intern Med 1938; 11: 1662-746
    • (1938) Ann Intern Med , vol.11 , pp. 1662-1746
    • Thannhauser, S.J.1    Magendanta, H.2
  • 7
    • 0015890890 scopus 로고
    • Familial hypercholesterolemia: Identification of a defect in the regulation of 3-hydroxy-3-methylglutaryl coenzyme A reductase activity associated with overproduction of cholesterol
    • Goldstein JL, Brown MS. Familial hypercholesterolemia: identification of a defect in the regulation of 3-hydroxy-3-methylglutaryl coenzyme A reductase activity associated with overproduction of cholesterol. Proc Natl Acad Sci USA 1973; 70: 2804-8
    • (1973) Proc Natl Acad Sci USA , vol.70 , pp. 2804-2808
    • Goldstein, J.L.1    Brown, M.S.2
  • 8
    • 0017239547 scopus 로고
    • Receptor-mediated control of cholesterol metabolism
    • Brown MS, Goldstein JL. Receptor-mediated control of cholesterol metabolism. Science 1976; 191: 150-4
    • (1976) Science , vol.191 , pp. 150-154
    • Brown, M.S.1    Goldstein, J.L.2
  • 9
    • 0018590304 scopus 로고
    • The LDL receptor locus and the genetics of familial hypercholesterolemia
    • Goldstein JL, Brown MS. The LDL receptor locus and the genetics of familial hypercholesterolemia. Annu Rev Genet 1979; 13: 259-89
    • (1979) Annu Rev Genet , vol.13 , pp. 259-289
    • Goldstein, J.L.1    Brown, M.S.2
  • 11
    • 0028961832 scopus 로고
    • Familial ligand-defective apolipoprotein B. Identification of a new mutation that decreases LDL receptor binding affinity
    • Pullinger CR, Hennessy LK, Chatterton JE, et al. Familial ligand-defective apolipoprotein B. Identification of a new mutation that decreases LDL receptor binding affinity. J Clin Invest 1995; 95: 1225-34
    • (1995) J Clin Invest , vol.95 , pp. 1225-1234
    • Pullinger, C.R.1    Hennessy, L.K.2    Chatterton, J.E.3
  • 12
    • 0037603589 scopus 로고    scopus 로고
    • Mutations in PCSK9 cause autosomal dominant hypercholesterolemia
    • Abifadel M, Varret M, Rabes JP, et al. Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. Nat Genet 2003; 34: 154-6
    • (2003) Nat Genet , vol.34 , pp. 154-156
    • Abifadel, M.1    Varret, M.2    Rabes, J.P.3
  • 13
    • 0035095514 scopus 로고    scopus 로고
    • Use of homozygosity mapping to identify a region on chromosome 1 bearing a defective gene that causes autosomal recessive homozygous hypercholesterolemia in two unrelated families
    • Eden ER, Naoumova RP, Burden JJ, et al. Use of homozygosity mapping to identify a region on chromosome 1 bearing a defective gene that causes autosomal recessive homozygous hypercholesterolemia in two unrelated families. Am J Hum Genet 2001; 68: 653-60
    • (2001) Am J Hum Genet , vol.68 , pp. 653-660
    • Eden, E.R.1    Naoumova, R.P.2    Burden, J.J.3
  • 14
    • 85047684249 scopus 로고    scopus 로고
    • Human cholesterol 7alpha-hydroxylase (CYP7A1) deficiency has a hypercholesterolemic phenotype
    • Pullinger CR, Eng C, Salen G, et al. Human cholesterol 7alpha-hydroxylase (CYP7A1) deficiency has a hypercholesterolemic phenotype. J Clin Invest 2002; 110: 109-17
    • (2002) J Clin Invest , vol.110 , pp. 109-117
    • Pullinger, C.R.1    Eng, C.2    Salen, G.3
  • 15
    • 0035158733 scopus 로고    scopus 로고
    • Identification of a gene, ABCG5, important in the regulation of dietarycholesterol absorption
    • Lee MH, Lu K, Hazard S, et al. Identification of a gene, ABCG5, important in the regulation of dietarycholesterol absorption. Nat Genet 2001; 27: 79-83
    • (2001) Nat Genet , vol.27 , pp. 79-83
    • Lee, M.H.1    Lu, K.2    Hazard, S.3
  • 17
    • 33751328880 scopus 로고
    • Case of vitilogoidea with remarks
    • Ranking WH. Case of vitilogoidea with remarks. Lancet 1853; i: 172-3
    • (1853) Lancet , vol.1 , pp. 172-173
    • Ranking, W.H.1
  • 18
    • 0342367161 scopus 로고
    • General xanthelasma or vitiligoidea
    • Fagge CH. General xanthelasma or vitiligoidea. Trans Path Soc Lond 1873; 24: 242-50
    • (1873) Trans Path Soc Lond , vol.24 , pp. 242-250
    • Fagge, C.H.1
  • 19
    • 0016120499 scopus 로고
    • Achilles tendinitis and tenosynovitis. A diagnostic manifestation of familial type II hyperlipoproteinemia in children
    • Shapiro JR, Fallat RW, Tsang RC, Glueck CJ. Achilles tendinitis and tenosynovitis. A diagnostic manifestation of familial type II hyperlipoproteinemia in children. Am J Dis Child 1974; 128: 486-90
    • (1974) Am J Dis Child , vol.128 , pp. 486-490
    • Shapiro, J.R.1    Fallat, R.W.2    Tsang, R.C.3    Glueck, C.J.4
  • 20
    • 33144474424 scopus 로고    scopus 로고
    • Familial hypercholesterolaemia commonly presents with achilles tenosynovitis
    • Beeharry D, Coupe B, Benbow E, et al. Familial hypercholesterolaemia commonly presents with achilles tenosynovitis. Ann Rheum Dis 2006; 65: 312-15
    • (2006) Ann Rheum Dis , vol.65 , pp. 312-315
    • Beeharry, D.1    Coupe, B.2    Benbow, E.3
  • 23
    • 24144475212 scopus 로고    scopus 로고
    • Tendon xanthomas in familial hypercholesterolemia are associated with cardiovascular risk independently of the low-density lipoprotein receptor gene mutation
    • Spanish Familial Hypercholesterolemia Group
    • Civeira F, Castillo S, Alonso R, et al., Spanish Familial Hypercholesterolemia Group. Tendon xanthomas in familial hypercholesterolemia are associated with cardiovascular risk independently of the low-density lipoprotein receptor gene mutation. Arterioscler Thromb Vasc Biol 2005; 25: 1960-5
    • (2005) Arterioscler Thromb Vasc Biol , vol.25 , pp. 1960-1965
    • Civeira, F.1    Castillo, S.2    Alonso, R.3
  • 24
    • 0020454524 scopus 로고
    • The assessment of Achilles tendon size in primary hypercholesterolaemia by computed tomography
    • Durrington PN, Adams JE, Beastall MD. The assessment of Achilles tendon size in primary hypercholesterolaemia by computed tomography. Atherosclerosis 1982; 45: 345-58
    • (1982) Atherosclerosis , vol.45 , pp. 345-358
    • Durrington, P.N.1    Adams, J.E.2    Beastall, M.D.3
  • 25
    • 26244447886 scopus 로고    scopus 로고
    • The use of Achilles tendon sonography to distinguish familial hypercholesterolemia from other genetic dyslipidemias
    • Junyent M, Gilabert R, Zambon D, et al. The use of Achilles tendon sonography to distinguish familial hypercholesterolemia from other genetic dyslipidemias. Arterioscler Thromb Vasc Biol 2005; 25: 2203-8
    • (2005) Arterioscler Thromb Vasc Biol , vol.25 , pp. 2203-2208
    • Junyent, M.1    Gilabert, R.2    Zambon, D.3
  • 26
    • 0028211861 scopus 로고
    • Diagnosis of Achilles tendon xanthoma in patients with heterozygous familial hypercholesterolemia: MR vs sonography
    • Bude RO, Adler RS, Bassett DR. Diagnosis of Achilles tendon xanthoma in patients with heterozygous familial hypercholesterolemia: MR vs sonography. Am J Roentgenol 1994; 162: 913-17
    • (1994) Am J Roentgenol , vol.162 , pp. 913-917
    • Bude, R.O.1    Adler, R.S.2    Bassett, D.R.3
  • 27
    • 0026795818 scopus 로고
    • Magnetic resonance imaging of Achilles tendon xanthomas in familial hypercholesterolemia
    • Liem MS, Leuven JA, Bloem JL, Schipper J. Magnetic resonance imaging of Achilles tendon xanthomas in familial hypercholesterolemia. Skeletal Radio 1992; 21: 453-7
    • (1992) Skeletal Radio , vol.21 , pp. 453-457
    • Liem, M.S.1    Leuven, J.A.2    Bloem, J.L.3    Schipper, J.4
  • 29
    • 0020663825 scopus 로고
    • Supravalvular aortic stenosis and coronary ostial stenosis in familial hypercholesterolemia: Two-dimensional echocardiographic assessment
    • Beppu S, Minura Y, Sakakibara H, et al. Supravalvular aortic stenosis and coronary ostial stenosis in familial hypercholesterolemia: two-dimensional echocardiographic assessment. Circulation 1983; 67: 878-84
    • (1983) Circulation , vol.67 , pp. 878-884
    • Beppu, S.1    Minura, Y.2    Sakakibara, H.3
  • 30
    • 0013596512 scopus 로고
    • The cardiac manifestations of the homozygous and heterozygous forms of familial type II hypercholesterolaemia
    • Goldstein JL. The cardiac manifestations of the homozygous and heterozygous forms of familial type II hypercholesterolaemia. Birth Defects 1972; 8: 202
    • (1972) Birth Defects , vol.8 , pp. 202
    • Goldstein, J.L.1
  • 31
    • 33751341159 scopus 로고
    • Diagnosis and management
    • Oxford: Butterworth Heinemannn
    • Durrington PN. Diagnosis and management. In: Hyperlipidaemia. Oxford: Butterworth Heinemannn, 1995: 116
    • (1995) Hyperlipidaemia , pp. 116
    • Durrington, P.N.1
  • 32
    • 1842612038 scopus 로고    scopus 로고
    • Genetics of familial combined hyperlipidemia and risk of coronary heart disease
    • Shoulders CC, Jones EL, Naoumova RP. Genetics of familial combined hyperlipidemia and risk of coronary heart disease. Hum Mol Genet 2004; 13(Spec No 1): R149-60
    • (2004) Hum Mol Genet , vol.13 , Issue.SPEC. NO 1
    • Shoulders, C.C.1    Jones, E.L.2    Naoumova, R.P.3
  • 33
    • 0025785658 scopus 로고
    • Type III dyslipoproteinemia in patients heterozygous for familial hypercholesterolemia and apolipoprotein E2. Evidence for a gene-gene interaction
    • Hopkins PN, Wu LL, Schumacher MC, et al. Type III dyslipoproteinemia in patients heterozygous for familial hypercholesterolemia and apolipoprotein E2. Evidence for a gene-gene interaction. Arterioscler Thromb 1991; 11: 1137-46
    • (1991) Arterioscler Thromb , vol.11 , pp. 1137-1146
    • Hopkins, P.N.1    Wu, L.L.2    Schumacher, M.C.3
  • 34
    • 0033991519 scopus 로고    scopus 로고
    • Coexisting dysbetalipoproteinemia and familial hypercholesterolemia. Clinical and laboratory observations
    • Carmena R, Roy M, Roederer G, Minnich A, Davignon J. Coexisting dysbetalipoproteinemia and familial hypercholesterolemia. Clinical and laboratory observations. Atherosclerosis 2000; 148: 113-24
    • (2000) Atherosclerosis , vol.148 , pp. 113-124
    • Carmena, R.1    Roy, M.2    Roederer, G.3    Minnich, A.4    Davignon, J.5
  • 35
    • 0027403976 scopus 로고
    • Musculoskeletal manifestations in hyperlipidaemia: A controlled study
    • Klemp P, Halland AM, Majoos FL, Steyn K. Musculoskeletal manifestations in hyperlipidaemia: a controlled study. Ann Rheum Dis 1993; 52: 44-8
    • (1993) Ann Rheum Dis , vol.52 , pp. 44-48
    • Klemp, P.1    Halland, A.M.2    Majoos, F.L.3    Steyn, K.4
  • 37
    • 0014300604 scopus 로고
    • Migratory polyarthritis in familial hypercholesterolemia (type II hyperlipoproteinemia)
    • Khachadurian AK. Migratory polyarthritis in familial hypercholesterolemia (type II hyperlipoproteinemia). Arthritis Rheum 1968; 11: 385-93
    • (1968) Arthritis Rheum , vol.11 , pp. 385-393
    • Khachadurian, A.K.1
  • 38
    • 0018168831 scopus 로고
    • Transient polyarthritis associated with familial hyperbetalipoproteinaemia
    • Rooney PJ, Third J, Madkour MM, Spencer D, Dick WC. Transient polyarthritis associated with familial hyperbetalipoproteinaemia. Q J Med 1978; 47: 249-59
    • (1978) Q J Med , vol.47 , pp. 249-259
    • Rooney, P.J.1    Third, J.2    Madkour, M.M.3    Spencer, D.4    Dick, W.C.5
  • 39
    • 4444328790 scopus 로고    scopus 로고
    • Familial hypercholesterolemia and coronary heart disease: A HuGE association review
    • Austin MA, Hutter CM, Zimmern RL, Humphries SE. Familial hypercholesterolemia and coronary heart disease: a HuGE association review. Am J Epidemiol 2004; 160: 421-9
    • (2004) Am J Epidemiol , vol.160 , pp. 421-429
    • Austin, M.A.1    Hutter, C.M.2    Zimmern, R.L.3    Humphries, S.E.4
  • 40
    • 4444261091 scopus 로고    scopus 로고
    • Familial hypercholesterolemia, peripheral arterial disease, and stroke: A HuGE minireview
    • Hutter CM, Austin MA, Humphries SE. Familial hypercholesterolemia, peripheral arterial disease, and stroke: a HuGE minireview. Am J Epidemiol 2004; 160: 430-5
    • (2004) Am J Epidemiol , vol.160 , pp. 430-435
    • Hutter, C.M.1    Austin, M.A.2    Humphries, S.E.3
  • 41
    • 0037229190 scopus 로고    scopus 로고
    • Risk of fatal stroke in patients with treated familial hypercholesterolemia: A prospective registry study
    • Simon Broome Familial Hyperlipidaemia Register Group and Scientific Steering Committee. Erratum in: Stroke 2003; 34: 826
    • Huxley RR, Hawkins MH, Humphries SE, Karpe F, Neil HA, Simon Broome Familial Hyperlipidaemia Register Group and Scientific Steering Committee. Risk of fatal stroke in patients with treated familial hypercholesterolemia: a prospective registry study. Stroke 2003; 34: 22-5. Erratum in: Stroke 2003; 34: 826
    • (2003) Stroke , vol.34 , pp. 22-25
    • Huxley, R.R.1    Hawkins, M.H.2    Humphries, S.E.3    Karpe, F.4    Neil, H.A.5
  • 42
    • 0021236065 scopus 로고
    • Cardiovascular features of homozygous familial hypercholesterolemia: Analysis of 16 patients
    • Sprecher DL, Schaefer EJ, Kent KM, et al. Cardiovascular features of homozygous familial hypercholesterolemia: analysis of 16 patients. Am J Cardiol 1984; 54: 20-30
    • (1984) Am J Cardiol , vol.54 , pp. 20-30
    • Sprecher, D.L.1    Schaefer, E.J.2    Kent, K.M.3
  • 43
    • 4444376916 scopus 로고    scopus 로고
    • Genetic causes of monogenic heterozygous familial hypercholesterolemia: A HuGE prevalence review
    • Austin MA, Hutter CM, Zimmern RL, Humphries SE. Genetic causes of monogenic heterozygous familial hypercholesterolemia: a HuGE prevalence review. Am J Epidemiol 2004; 160: 407-20
    • (2004) Am J Epidemiol , vol.160 , pp. 407-420
    • Austin, M.A.1    Hutter, C.M.2    Zimmern, R.L.3    Humphries, S.E.4
  • 44
    • 0036653039 scopus 로고    scopus 로고
    • High 'population attributable fraction' for coronary heart disease mortality among relatives in monogenic familial hypercholesterolemia
    • Austin MA, Zimmern RL, Humphries SE. High 'population attributable fraction' for coronary heart disease mortality among relatives in monogenic familial hypercholesterolemia. Genet Med 2002; 4: 275-8
    • (2002) Genet Med , vol.4 , pp. 275-278
    • Austin, M.A.1    Zimmern, R.L.2    Humphries, S.E.3
  • 45
    • 0016373413 scopus 로고
    • Coronary artery disease in 116 kindred with familial type II hyperlipoproteinemia
    • Stone NJ, Levy RI, Fredrickson DS, Verter J. Coronary artery disease in 116 kindred with familial type II hyperlipoproteinemia. Circulation 1974; 49: 476-88
    • (1974) Circulation , vol.49 , pp. 476-488
    • Stone, N.J.1    Levy, R.I.2    Fredrickson, D.S.3    Verter, J.4
  • 46
    • 0014693152 scopus 로고
    • Risks of ischaemic heart-disease in familial hyperlipoproteinaemic states
    • Slack J. Risks of ischaemic heart-disease in familial hyperlipoproteinaemic states. Lancet 1969; ii: 1380-2
    • (1969) Lancet , vol.2 , pp. 1380-1382
    • Slack, J.1
  • 47
    • 0014106568 scopus 로고
    • Coronary disease in familial hypercholesterolaemia
    • Jensen J, Blankenhorn DH, Kornerup V. Coronary disease in familial hypercholesterolaemia. Circulation 1967; 36: 77-82
    • (1967) Circulation , vol.36 , pp. 77-82
    • Jensen, J.1    Blankenhorn, D.H.2    Kornerup, V.3
  • 48
    • 0016829532 scopus 로고
    • The risk of atherosclerotic vascular disease in subjects with xanthomatosis
    • Heiberg A. The risk of atherosclerotic vascular disease in subjects with xanthomatosis. Acta Med Scand 1975; 198: 249-61
    • (1975) Acta Med Scand , vol.198 , pp. 249-261
    • Heiberg, A.1
  • 49
    • 0026031715 scopus 로고
    • Genetic and environmental factors affecting the incidence of coronary artery disease in heterozygous familial hypercholesterolemia
    • Hill JS, Hayden MR, Frohlich J, Pritchard PH. Genetic and environmental factors affecting the incidence of coronary artery disease in heterozygous familial hypercholesterolemia. Arterioscler Thromb 1991; 11: 290-7
    • (1991) Arterioscler Thromb , vol.11 , pp. 290-297
    • Hill, J.S.1    Hayden, M.R.2    Frohlich, J.3    Pritchard, P.H.4
  • 50
    • 0017072292 scopus 로고
    • Ischaemic disease in men and women with familial hypercholesterolaemia and xanthomatosis. A comparative study of genetic and environmental factors in 274 heterozygous cases
    • Beaumont V, Jacotot B, Beaumont JL. Ischaemic disease in men and women with familial hypercholesterolaemia and xanthomatosis. A comparative study of genetic and environmental factors in 274 heterozygous cases. Atherosclerosis 1976; 24: 441-50
    • (1976) Atherosclerosis , vol.24 , pp. 441-450
    • Beaumont, V.1    Jacotot, B.2    Beaumont, J.L.3
  • 51
    • 0035962344 scopus 로고    scopus 로고
    • Mortality over two centuries in large pedigree with familial hypercholesterolaemia: Family tree mortality study
    • Sijbrands EJ, Westendorp RG, Defesche JC, et al. Mortality over two centuries in large pedigree with familial hypercholesterolaemia: family tree mortality study. BMJ 2001; 322: 1019-23
    • (2001) BMJ , vol.322 , pp. 1019-1023
    • Sijbrands, E.J.1    Westendorp, R.G.2    Defesche, J.C.3
  • 52
    • 0022571020 scopus 로고
    • Causes of death in patients with familial hypercholesterolemia
    • Mabuchi H, Miyamoto S, Ueda K, et al. Causes of death in patients with familial hypercholesterolemia. Atherosclerosis 1986; 61: 1-6
    • (1986) Atherosclerosis , vol.61 , pp. 1-6
    • Mabuchi, H.1    Miyamoto, S.2    Ueda, K.3
  • 53
    • 0028910869 scopus 로고
    • Characterization of a splice-site mutation in the gene for the LDL receptor associated with an unpredictably severe clinical phenotype in English patients with heterozygous FH
    • Sun XM, Patel DD, Bhatnagar D, et al. Characterization of a splice-site mutation in the gene for the LDL receptor associated with an unpredictably severe clinical phenotype in English patients with heterozygous FH. Arterioscler Thromb Vasc Biol 1995; 15: 219-27
    • (1995) Arterioscler Thromb Vasc Biol , vol.15 , pp. 219-227
    • Sun, X.M.1    Patel, D.D.2    Bhatnagar, D.3
  • 54
    • 0028172756 scopus 로고
    • Effect on plasma lipid levels of different classes of mutations in the low-density lipoprotein receptor gene in patients with familial hypercholesterolemia
    • Gudnason V, Day IN, Humphries SE. Effect on plasma lipid levels of different classes of mutations in the low-density lipoprotein receptor gene in patients with familial hypercholesterolemia. Arterioscler Thromb 1994; 14: 1717-22
    • (1994) Arterioscler Thromb , vol.14 , pp. 1717-1722
    • Gudnason, V.1    Day, I.N.2    Humphries, S.E.3
  • 55
    • 0034820279 scopus 로고    scopus 로고
    • Familial hypercholesterolaemia in Finland: Common, rare and mild mutations of the LDL receptor and their clinical consequences
    • Finnish FH-group
    • Vuorio AF, Aalto-Setala K, Koivisto UM, et al. Familial hypercholesterolaemia in Finland: common, rare and mild mutations of the LDL receptor and their clinical consequences. Finnish FH-group. Ann Med 2001; 33: 410-21
    • (2001) Ann Med , vol.33 , pp. 410-421
    • Vuorio, A.F.1    Aalto-Setala, K.2    Koivisto, U.M.3
  • 56
    • 17044422041 scopus 로고    scopus 로고
    • Effect of low-density lipoprotein receptor mutation on lipoproteins and cardiovascular disease risk: A parent-offspring study
    • Koeijvoets KC, Wiegman A, Rodenburg J, Defesche JC, Kastelein JJ, Sijbrands EJ. Effect of low-density lipoprotein receptor mutation on lipoproteins and cardiovascular disease risk: a parent-offspring study. Atherosclerosis 2005; 180: 93-9
    • (2005) Atherosclerosis , vol.180 , pp. 93-99
    • Koeijvoets, K.C.1    Wiegman, A.2    Rodenburg, J.3    Defesche, J.C.4    Kastelein, J.J.5    Sijbrands, E.J.6
  • 57
    • 33644807009 scopus 로고    scopus 로고
    • Severe hypercholesterolemia in four British families with the D374Y mutation in the PCSK9 gene: Long-term follow-up and treatment response
    • Naoumova RP, Tosi I, Patel D, et al. Severe hypercholesterolemia in four British families with the D374Y mutation in the PCSK9 gene: long-term follow-up and treatment response. Arterioscler Thromb Vasc Biol 2005; 25: 2654-60
    • (2005) Arterioscler Thromb Vasc Biol , vol.25 , pp. 2654-2660
    • Naoumova, R.P.1    Tosi, I.2    Patel, D.3
  • 58
    • 9644287995 scopus 로고    scopus 로고
    • The contribution of classical risk factors to cardiovascular disease in familial hypercholesterolaemia: Data in 2400 patients
    • Jansen AC, van Aalst-Cohen ES, Tanck MW, et al. The contribution of classical risk factors to cardiovascular disease in familial hypercholesterolaemia: data in 2400 patients. J Intern Med 2004; 256: 482-90
    • (2004) J Intern Med , vol.256 , pp. 482-490
    • Jansen, A.C.1    Van Aalst-Cohen, E.S.2    Tanck, M.W.3
  • 59
    • 0018643515 scopus 로고
    • Reversible abnormalities of low density lipoprotein composition in familial hypercholesterolaemia
    • Jadhav AV, Thompson GR. Reversible abnormalities of low density lipoprotein composition in familial hypercholesterolaemia. Eur J Clin Invest 1979; 9: 63-7
    • (1979) Eur J Clin Invest , vol.9 , pp. 63-67
    • Jadhav, A.V.1    Thompson, G.R.2
  • 60
    • 0017693411 scopus 로고
    • Simultaneous measurement of apolipoprotein B turnover in very-low and low-density lipoproteins in familial hypercholesterolaemia
    • Soutar AK, Myant NB, Thompson GR. Simultaneous measurement of apolipoprotein B turnover in very-low and low-density lipoproteins in familial hypercholesterolaemia. Atherosclerosis 1977; 28: 247-56
    • (1977) Atherosclerosis , vol.28 , pp. 247-256
    • Soutar, A.K.1    Myant, N.B.2    Thompson, G.R.3
  • 61
    • 0018115698 scopus 로고
    • Plasma high-density lipoproteins and ischemic heart disease: Studies in a large kindred with familial hypercholesterolemia
    • Streja D, Steiner G, Kwiterovich Jr PO. Plasma high-density lipoproteins and ischemic heart disease: studies in a large kindred with familial hypercholesterolemia. Ann Intern Med 1978; 89: 871-80
    • (1978) Ann Intern Med , vol.89 , pp. 871-880
    • Streja, D.1    Steiner, G.2    Kwiterovich Jr., P.O.3
  • 62
    • 0025734425 scopus 로고
    • Serum lipoprotein (a) in patients heterozygous for familial hypercholesterolemia, their relatives, and unrelated control populations
    • Mbewu AD, Bhatnagar D, Durrington PN, et al. Serum lipoprotein (a) in patients heterozygous for familial hypercholesterolemia, their relatives, and unrelated control populations. Arterioscler Thromb 1991; 11: 940-6
    • (1991) Arterioscler Thromb , vol.11 , pp. 940-946
    • Mbewu, A.D.1    Bhatnagar, D.2    Durrington, P.N.3
  • 63
    • 2442497725 scopus 로고
    • Defects in the low density lipoprotein receptor gene affect lipoprotein (a) levels: Multiplicative interaction of two gene loci associated with premature atherosclerosis
    • Utermann G, Hoppichler F, Dieplinger H, Seed M, Thompson G, Boerwinkle E. Defects in the low density lipoprotein receptor gene affect lipoprotein (a) levels: multiplicative interaction of two gene loci associated with premature atherosclerosis. Proc Natl Acad Sci USA 1989; 86: 4171-4
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 4171-4174
    • Utermann, G.1    Hoppichler, F.2    Dieplinger, H.3    Seed, M.4    Thompson, G.5    Boerwinkle, E.6
  • 64
    • 0025365313 scopus 로고
    • Relation of serum lipoprotein (a) concentration and apolipoprotein(a) phenotype to coronary heart disease in patients with familial hypercholesterolemia
    • Seed M, Hoppichler F, Reaveley D, et al. Relation of serum lipoprotein (a) concentration and apolipoprotein(a) phenotype to coronary heart disease in patients with familial hypercholesterolemia. N Engl J Med 1990; 322: 1494-9
    • (1990) N Engl J Med , vol.322 , pp. 1494-1499
    • Seed, M.1    Hoppichler, F.2    Reaveley, D.3
  • 65
    • 0021742599 scopus 로고
    • The human LDL receptor: A cysteine-rich protein with multiple Alu sequences in its mRNA
    • Yamamoto T, Davis CG, Brown MS, et al. The human LDL receptor: a cysteine-rich protein with multiple Alu sequences in its mRNA. Cell 1984; 39: 27-38
    • (1984) Cell , vol.39 , pp. 27-38
    • Yamamoto, T.1    Davis, C.G.2    Brown, M.S.3
  • 66
    • 0344507606 scopus 로고
    • Human genes involved in cholesterol metabolism: Chromosomal mapping of the loci for the low density lipoprotein receptor and 3-hydroxy-3- methylglutaryl-coenzyme A reductase with cDNA probes
    • Lindgren V, Luskey KL, Russell DW, Francke U. Human genes involved in cholesterol metabolism: chromosomal mapping of the loci for the low density lipoprotein receptor and 3-hydroxy-3-methylglutaryl-coenzyme A reductase with cDNA probes. Proc Natl Acad Sci USA 1985; 82: 8567-71
    • (1985) Proc Natl Acad Sci USA , vol.82 , pp. 8567-8571
    • Lindgren, V.1    Luskey, K.L.2    Russell, D.W.3    Francke, U.4
  • 67
    • 0020478759 scopus 로고
    • Purification of the low density lipoprotein receptor, an acidic glycoprotein of 164,000 molecular weight
    • Schneider WJ, Beisiegel U, Goldstein JL, Brown MS. Purification of the low density lipoprotein receptor, an acidic glycoprotein of 164,000 molecular weight. J Biol Chem 1982; 257: 2664-73
    • (1982) J Biol Chem , vol.257 , pp. 2664-2673
    • Schneider, W.J.1    Beisiegel, U.2    Goldstein, J.L.3    Brown, M.S.4
  • 68
    • 0014193061 scopus 로고
    • Fat transport in lipoproteins - An integrated approach to mechanisms and disorders
    • Fredrickson DS, Levy RI, Lees RS. Fat transport in lipoproteins - an integrated approach to mechanisms and disorders. N Engl J Med 1967; 276: 34-42
    • (1967) N Engl J Med , vol.276 , pp. 34-42
    • Fredrickson, D.S.1    Levy, R.I.2    Lees, R.S.3
  • 69
    • 0015348455 scopus 로고
    • The metabolism of low density lipoprotein in familial type II hyperlipoproteinemia
    • Langer T, Strober W, Levy RI. The metabolism of low density lipoprotein in familial type II hyperlipoproteinemia. J Clin Invest 1972; 51: 1528-36
    • (1972) J Clin Invest , vol.51 , pp. 1528-1536
    • Langer, T.1    Strober, W.2    Levy, R.I.3
  • 70
    • 0020972414 scopus 로고
    • Lipoprotein metabolism in the macrophage: Implications for cholesterol deposition in atherosclerosis
    • Brown MS, Goldstein JL. Lipoprotein metabolism in the macrophage: implications for cholesterol deposition in atherosclerosis. Annu Rev Biochem 1983; 52: 223-61
    • (1983) Annu Rev Biochem , vol.52 , pp. 223-261
    • Brown, M.S.1    Goldstein, J.L.2
  • 71
    • 0016241915 scopus 로고
    • Binding and degradation of low density lipoproteins by cultured human fibroblasts. Comparison of cells from a normal subject and from a patient with homozygous familial hypercholesterolemia
    • Goldstein JL, Brown MS. Binding and degradation of low density lipoproteins by cultured human fibroblasts. Comparison of cells from a normal subject and from a patient with homozygous familial hypercholesterolemia. J Biol Chem 1974; 249: 5153-62
    • (1974) J Biol Chem , vol.249 , pp. 5153-5162
    • Goldstein, J.L.1    Brown, M.S.2
  • 72
    • 0018226240 scopus 로고
    • Linkage between familial hypercholesterolemia with xanthomatosis and the C3 polymorphism confirmed
    • Berg K, Heiberg A. Linkage between familial hypercholesterolemia with xanthomatosis and the C3 polymorphism confirmed. Cytogenet Cell Genet 1978; 22: 621-3
    • (1978) Cytogenet Cell Genet , vol.22 , pp. 621-623
    • Berg, K.1    Heiberg, A.2
  • 73
    • 0022549920 scopus 로고
    • A receptor-mediated pathway for cholesterol homeostasis
    • Brown MS, Goldstein JL. A receptor-mediated pathway for cholesterol homeostasis. Science 1986; 232: 34-47
    • (1986) Science , vol.232 , pp. 34-47
    • Brown, M.S.1    Goldstein, J.L.2
  • 74
    • 0025908365 scopus 로고
    • Clinical signs of familial hypercholesterolemia in patients with familial defective apolipoprotein B-100 and normal low density lipoprotein receptor function
    • Myant NB, Gallagher JJ, Knight BL, et al. Clinical signs of familial hypercholesterolemia in patients with familial defective apolipoprotein B-100 and normal low density lipoprotein receptor function. Arterioscler Thromb 1991; 11: 691-703
    • (1991) Arterioscler Thromb , vol.11 , pp. 691-703
    • Myant, N.B.1    Gallagher, J.J.2    Knight, B.L.3
  • 75
    • 0035962362 scopus 로고    scopus 로고
    • The role of other genes and environment should not be overlooked in monogenic disease
    • Kaprio J. The role of other genes and environment should not be overlooked in monogenic disease. BMJ 2001; 322: 1023
    • (2001) BMJ , vol.322 , pp. 1023
    • Kaprio, J.1
  • 78
    • 0023764870 scopus 로고
    • Familial hypercholesterolemia and apolipoprotein E4
    • Eto M, Watanabe K, Chonan N, Ishii K. Familial hypercholesterolemia and apolipoprotein E4. Atherosclerosis 1988; 72: 123-8
    • (1988) Atherosclerosis , vol.72 , pp. 123-128
    • Eto, M.1    Watanabe, K.2    Chonan, N.3    Ishii, K.4
  • 79
    • 0024162087 scopus 로고
    • Serum noncholesterol sterols related to cholesterol metabolism in familial hypercholesterolemia
    • Gylling H, Miettinen TA. Serum noncholesterol sterols related to cholesterol metabolism in familial hypercholesterolemia. Clin Chim Acta 1988; 178: 41-9
    • (1988) Clin Chim Acta , vol.178 , pp. 41-49
    • Gylling, H.1    Miettinen, T.A.2
  • 80
    • 0019867447 scopus 로고
    • Contrasting patterns of coronary atherosclerosis in normocholesterolaemic smokers and patients with familial hypercholesterolaemia
    • Sugrue DD, Thompson GR, Oakley CM, Trayner IM, Steiner RE. Contrasting patterns of coronary atherosclerosis in normocholesterolaemic smokers and patients with familial hypercholesterolaemia. BMJ 1981; 283: 1358-60
    • (1981) BMJ , vol.283 , pp. 1358-1360
    • Sugrue, D.D.1    Thompson, G.R.2    Oakley, C.M.3    Trayner, I.M.4    Steiner, R.E.5
  • 81
    • 0037465809 scopus 로고    scopus 로고
    • Family history and cardiovascular risk in familial hypercholesterolemia: Data in more than 1000 children
    • Wiegman A, Rodenburg J, de Jongh S, et al. Family history and cardiovascular risk in familial hypercholesterolemia: data in more than 1000 children. Circulation 2003; 25: 1473-8
    • (2003) Circulation , vol.25 , pp. 1473-1478
    • Wiegman, A.1    Rodenburg, J.2    De Jongh, S.3
  • 82
    • 0032759131 scopus 로고    scopus 로고
    • Mutation screening and genotype:phenotype correlation in familial hypercholesterolaemia
    • Graham CA, McClean E, Ward AJ, et al. Mutation screening and genotype:phenotype correlation in familial hypercholesterolaemia. Atherosclerosis 1999; 147: 309-16
    • (1999) Atherosclerosis , vol.147 , pp. 309-316
    • Graham, C.A.1    McClean, E.2    Ward, A.J.3
  • 83
    • 0027429315 scopus 로고
    • Phenotypic variation among familial hypercholesterolemics heterozygous for either one of two Afrikaner founder LDL receptor mutations
    • Kotze MJ, De Villiers WJ, Steyn K, et al. Phenotypic variation among familial hypercholesterolemics heterozygous for either one of two Afrikaner founder LDL receptor mutations. Arterioscler Thromb 1993; 13: 1460-8
    • (1993) Arterioscler Thromb , vol.13 , pp. 1460-1468
    • Kotze, M.J.1    De Villiers, W.J.2    Steyn, K.3
  • 84
    • 8244235756 scopus 로고    scopus 로고
    • 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, et al. Comparison of the effect of two low-density lipoprotein receptor class mutations on coronary heart disease among French-Canadian patients heterozygous for familial hypercholesterolaemia. Eur J Clin Invest 1997; 27: 366-73
    • (1997) Eur J Clin Invest , vol.27 , pp. 366-373
    • Vohl, M.C.1    Gaudet, D.2    Moorjani, S.3
  • 85
    • 0033030089 scopus 로고    scopus 로고
    • 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, 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. Atherosclerosis 1999; 143: 153-61
    • (1999) Atherosclerosis , vol.143 , pp. 153-161
    • Gaudet, D.1    Vohl, M.C.2    Couture, P.3
  • 86
    • 0034268668 scopus 로고    scopus 로고
    • Clinical expression of familial hypercholesterolemia in clusters of mutations of the LDL receptor gene that cause a receptor-defective or receptor-negative phenotype
    • Bertolini S, Cantafora A, Averna M, 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. Arterioscler Thromb Vasc Biol 2000; 20: E41-52
    • (2000) Arterioscler Thromb Vasc Biol , vol.20
    • Bertolini, S.1    Cantafora, A.2    Averna, M.3
  • 87
    • 0029142927 scopus 로고
    • Determinants of lipid levels among children with heterozygous familial hypercholesterolemia in Norway
    • Tonstad S, Leren TP, Sivertsen M, et al. Determinants of lipid levels among children with heterozygous familial hypercholesterolemia in Norway. Arterioscler Thromb Vasc Biol 1995; 15: 1009-14
    • (1995) Arterioscler Thromb Vasc Biol , vol.15 , pp. 1009-1014
    • Tonstad, S.1    Leren, T.P.2    Sivertsen, M.3
  • 88
    • 0037058849 scopus 로고    scopus 로고
    • Low-density lipoprotein receptor gene mutations and cardiovascular risk in a large genetic cascade screening population
    • Umans-Eckenhausen MA, Sijbrands EJ, Kastelein JJ, et al. Low-density lipoprotein receptor gene mutations and cardiovascular risk in a large genetic cascade screening population. Circulation 2002; 106: 3031-6
    • (2002) Circulation , vol.106 , pp. 3031-3036
    • Umans-Eckenhausen, M.A.1    Sijbrands, E.J.2    Kastelein, J.J.3
  • 89
    • 0028172756 scopus 로고
    • Effect on plasma lipid levels of different classes of mutations in the low-density lipoprotein receptor gene in patients with familial hypercholesterolemia
    • Gudnason V, Day IN, Humphries SE. Effect on plasma lipid levels of different classes of mutations in the low-density lipoprotein receptor gene in patients with familial hypercholesterolemia. Arterioscler Thromb 1994; 14: 1717-22
    • (1994) Arterioscler Thromb , vol.14 , pp. 1717-1722
    • Gudnason, V.1    Day, I.N.2    Humphries, S.E.3
  • 90
    • 0030750830 scopus 로고    scopus 로고
    • APO E genotype and familial hypercholesterolaemia
    • Duly EB, Ward AJ, Kirk CW, et al. APO E genotype and familial hypercholesterolaemia. Ann Clin Biochem 1997; 34: 534-6
    • (1997) Ann Clin Biochem , vol.34 , pp. 534-536
    • Duly, E.B.1    Ward, A.J.2    Kirk, C.W.3
  • 91
    • 0029936847 scopus 로고    scopus 로고
    • 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. Influence of apolipoprotein E genotypes on plasma lipid and lipoprotein concentrations: results from a segregation analysis in pedigrees with molecularly defined familial hypercholesterolemia. Genet Epidemiol 1996; 13: 159-77
    • (1996) Genet Epidemiol , vol.13 , pp. 159-177
    • Friedlander, Y.1    Leitersdorf, E.2
  • 92
    • 33751347691 scopus 로고    scopus 로고
    • A frequent mutation in the lipoprotein lipase gene (D9N) deteriorates the biochemical and clinical phenotype of familial hypercholesterolemia
    • Wittekoek ME, Moll E, Pimstone SN, et al. A frequent mutation in the lipoprotein lipase gene (D9N) deteriorates the biochemical and clinical phenotype of familial hypercholesterolemia. Arterioscler Thromb Vasc Biol 1999; 192: 708-13
    • (1999) Arterioscler Thromb Vasc Biol , vol.192 , pp. 708-713
    • Wittekoek, M.E.1    Moll, E.2    Pimstone, S.N.3
  • 93
    • 0027193327 scopus 로고
    • Prevention of raised low-density lipoprotein cholesterol in a patient with familial hypercholesterolaemia and lipoprotein lipase deficiency
    • Zambon A, Torres A, Bijvoet S, et al. Prevention of raised low-density lipoprotein cholesterol in a patient with familial hypercholesterolaemia and lipoprotein lipase deficiency. Lancet 1993; 341: 1119-21
    • (1993) Lancet , vol.341 , pp. 1119-1121
    • Zambon, A.1    Torres, A.2    Bijvoet, S.3
  • 94
    • 1842767407 scopus 로고    scopus 로고
    • The relationship between cholesteryl ester transfer protein levels and risk factor profile in patients with familial hypercholesterolemia
    • de Grooth GJ, Smilde TJ, Van Wissen S, et al. The relationship between cholesteryl ester transfer protein levels and risk factor profile in patients with familial hypercholesterolemia. Atherosclerosis 2004; 173: 261-7
    • (2004) Atherosclerosis , vol.173 , pp. 261-267
    • De Grooth, G.J.1    Smilde, T.J.2    Van Wissen, S.3
  • 95
    • 0034978697 scopus 로고    scopus 로고
    • Association between the TaqIB polymorphism in the cholesteryl ester transfer protein gene locus and plasma lipoprotein levels in familial hypercholesterolemia
    • Carmena-Ramon R, Ascaso JF, Real JT, Najera G, Ordovas JM, Carmena R. Association between the TaqIB polymorphism in the cholesteryl ester transfer protein gene locus and plasma lipoprotein levels in familial hypercholesterolemia. Metabolism 2001; 50: 651-6
    • (2001) Metabolism , vol.50 , pp. 651-656
    • Carmena-Ramon, R.1    Ascaso, J.F.2    Real, J.T.3    Najera, G.4    Ordovas, J.M.5    Carmena, R.6
  • 96
    • 0033928198 scopus 로고    scopus 로고
    • A functional polymorphism in the promoter region of the microsomal triglyceride transfer protein (MTP-493G/T) influences lipoprotein phenotype in familial hypercholesterolemia
    • Lundahl B, Leren TP, Ose L, Hamsten A, Karpe F. A functional polymorphism in the promoter region of the microsomal triglyceride transfer protein (MTP-493G/T) influences lipoprotein phenotype in familial hypercholesterolemia. Arterioscler Thromb Vasc Biol 2000; 20: 1784-8
    • (2000) Arterioscler Thromb Vasc Biol , vol.20 , pp. 1784-1788
    • Lundahl, B.1    Leren, T.P.2    Ose, L.3    Hamsten, A.4    Karpe, F.5
  • 97
    • 2342592460 scopus 로고    scopus 로고
    • Genetic polymorphisms affecting the phenotypic expression of familial hypercholesterolemia
    • Bertolini S, Pisciotta L, Di Scala L, et al. Genetic polymorphisms affecting the phenotypic expression of familial hypercholesterolemia. Atherosclerosis 2004; 174: 57-65
    • (2004) Atherosclerosis , vol.174 , pp. 57-65
    • Bertolini, S.1    Pisciotta, L.2    Di Scala, L.3
  • 98
    • 14944385144 scopus 로고    scopus 로고
    • Serum homocysteine, methylenetetrahydrofolate reductase gene polymorphism and cardiovascular disease in heterozygous familial hypercholesterolemia
    • Pisciotta L, Cortese C, Gnasso A, et al. Serum homocysteine, methylenetetrahydrofolate reductase gene polymorphism and cardiovascular disease in heterozygous familial hypercholesterolemia. Atherosclerosis 2005; 179: 333-8
    • (2005) Atherosclerosis , vol.179 , pp. 333-338
    • Pisciotta, L.1    Cortese, C.2    Gnasso, A.3
  • 99
    • 0037337602 scopus 로고    scopus 로고
    • A common variant in the ABCA1 gene is associated with a lower risk for premature coronary heart disease in familial hypercholesterolaemia
    • Spanish FH group
    • Cenarro A, Artieda M, Castillo S, et al. Spanish FH group. A common variant in the ABCA1 gene is associated with a lower risk for premature coronary heart disease in familial hypercholesterolaemia. J Med Genet 2003; 40: 163-8
    • (2003) J Med Genet , vol.40 , pp. 163-168
    • Cenarro, A.1    Artieda, M.2    Castillo, S.3
  • 100
    • 0033711963 scopus 로고    scopus 로고
    • Renin-angiotensin system polymorphisms and coronary events in familial hypercholesterolemia
    • Wierzbicki AS, Lambert-Hammill M, Lumb PJ, Crook MA. Renin-angiotensin system polymorphisms and coronary events in familial hypercholesterolemia. Hypertension 2000; 36: 808-12
    • (2000) Hypertension , vol.36 , pp. 808-812
    • Wierzbicki, A.S.1    Lambert-Hammill, M.2    Lumb, P.J.3    Crook, M.A.4
  • 101
    • 0034020289 scopus 로고    scopus 로고
    • Paraoxonase gene polymorphisms are associated with carotid arterial wall thickness in subjects with familial hypercholesterolemia
    • Leus FR, Wittekoek ME, Prins J, Kastelein JJ, Voorbij HA. Paraoxonase gene polymorphisms are associated with carotid arterial wall thickness in subjects with familial hypercholesterolemia. Atherosclerosis 2000; 149: 371-7
    • (2000) Atherosclerosis , vol.149 , pp. 371-377
    • Leus, F.R.1    Wittekoek, M.E.2    Prins, J.3    Kastelein, J.J.4    Voorbij, H.A.5
  • 102
    • 11844267242 scopus 로고    scopus 로고
    • Variation at the paraoxonase gene locus contributes to carotid arterial wall thickness in subjects with familial hypercholesterolemia
    • Roest M, Jansen AC, Barendrecht A, Leus FR, Kastelein JJ, Voorbij HA. Variation at the paraoxonase gene locus contributes to carotid arterial wall thickness in subjects with familial hypercholesterolemia. Clin Biochem 2005; 38: 123-7
    • (2005) Clin Biochem , vol.38 , pp. 123-127
    • Roest, M.1    Jansen, A.C.2    Barendrecht, A.3    Leus, F.R.4    Kastelein, J.J.5    Voorbij, H.A.6
  • 103
    • 0021025750 scopus 로고
    • A case of heterozygous familial hypercholesterolemia associated with hyperthyroidism: Effects of triiodothyronine on low-density lipoprotein receptor and cholesterol synthesis
    • Haba T, Sakai Y, Koizumi J, Miyamoto S, Mabuchi H, Takeda R. A case of heterozygous familial hypercholesterolemia associated with hyperthyroidism: effects of triiodothyronine on low-density lipoprotein receptor and cholesterol synthesis. Metabolism 1983; 32: 1129-32
    • (1983) Metabolism , vol.32 , pp. 1129-1132
    • Haba, T.1    Sakai, Y.2    Koizumi, J.3    Miyamoto, S.4    Mabuchi, H.5    Takeda, R.6
  • 104
    • 0034448982 scopus 로고    scopus 로고
    • Estrogen markedly increases LDL-receptor activity in hypercholesterolemic patients
    • Inukai T, Takanashi K, Takebayashi K, et al. Estrogen markedly increases LDL-receptor activity in hypercholesterolemic patients. J Med 2000; 3: 247-61
    • (2000) J Med , vol.3 , pp. 247-261
    • Inukai, T.1    Takanashi, K.2    Takebayashi, K.3
  • 105
    • 27444447294 scopus 로고    scopus 로고
    • Lipoprotein(a) is an independent risk factor for cardiovascular disease in heterozygous familial hypercholesterolemia
    • Holmes DT, Schick BA, Humphries KH, Frohlich J. Lipoprotein(a) is an independent risk factor for cardiovascular disease in heterozygous familial hypercholesterolemia. Clin Chem 2005; 51: 2067-73
    • (2005) Clin Chem , vol.51 , pp. 2067-2073
    • Holmes, D.T.1    Schick, B.A.2    Humphries, K.H.3    Frohlich, J.4
  • 106
    • 28344458002 scopus 로고    scopus 로고
    • Genotype of the mutant LDL receptor allele is associated with LDL particle size heterogeneity in familial hypercholesterolemia
    • Hogue JC, Lamarche B, Gaudet D, et al. Genotype of the mutant LDL receptor allele is associated with LDL particle size heterogeneity in familial hypercholesterolemia. Atherosclerosis 2006; 184: 163-70
    • (2006) Atherosclerosis , vol.184 , pp. 163-170
    • Hogue, J.C.1    Lamarche, B.2    Gaudet, D.3
  • 107
    • 0034931412 scopus 로고    scopus 로고
    • Importance of HDL cholesterol levels and the total/HDL cholesterol ratio as a risk factor for coronary heart disease in molecularly defined heterozygous familial hypercholesterolaemia
    • Real JT, Chaves FJ, Martinez-Uso I, Garcia-Garcia AB, Ascaso JF, Carmena R. Importance of HDL cholesterol levels and the total/HDL cholesterol ratio as a risk factor for coronary heart disease in molecularly defined heterozygous familial hypercholesterolaemia. Eur Heart J 2001; 22: 465-71
    • (2001) Eur Heart J , vol.22 , pp. 465-471
    • Real, J.T.1    Chaves, F.J.2    Martinez-Uso, I.3    Garcia-Garcia, A.B.4    Ascaso, J.F.5    Carmena, R.6
  • 108
  • 109
    • 10344252285 scopus 로고    scopus 로고
    • Established and emerging coronary risk factors in patients with heterozygous familial hypercholesterolaemia
    • Neil HA, Seagroatt V, Betteridge DJ, et al. Established and emerging coronary risk factors in patients with heterozygous familial hypercholesterolaemia. Heart 2004; 90: 1431-7
    • (2004) Heart , vol.90 , pp. 1431-1437
    • Neil, H.A.1    Seagroatt, V.2    Betteridge, D.J.3
  • 110
    • 0036514388 scopus 로고    scopus 로고
    • Environmental modulation of artherosclerosis end points in familial hypercholesterolemia
    • Hegele RA. Environmental modulation of artherosclerosis end points in familial hypercholesterolemia. Atheroscler Suppl 2002; 2: 5-7
    • (2002) Atheroscler Suppl , vol.2 , pp. 5-7
    • Hegele, R.A.1
  • 111
    • 0035962344 scopus 로고    scopus 로고
    • Mortality over two centuries in large pedigree with familial hypercholesterolaemia: Family tree mortality study
    • Sijbrands EJ, Westendorp RG, Defesche JC, de Meier PH, Smelt AH, Kastelein JJ. Mortality over two centuries in large pedigree with familial hypercholesterolaemia: family tree mortality study. BMJ 2001; 322: 1019-23
    • (2001) BMJ , vol.322 , pp. 1019-1023
    • Sijbrands, E.J.1    Westendorp, R.G.2    Defesche, J.C.3    De Meier, P.H.4    Smelt, A.H.5    Kastelein, J.J.6
  • 112
    • 0031838215 scopus 로고    scopus 로고
    • 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. 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. Arterioscler Thromb Vasc Biol 1998; 18: 309-15
    • (1998) Arterioscler Thromb Vasc Biol , vol.18 , pp. 309-315
    • Pimstone, S.N.1    Sun, X.M.2    Du Souich, C.3    Frohlich, J.J.4    Hayden, M.R.5    Soutar, A.K.6
  • 113
    • 0029082090 scopus 로고
    • Recurrent and novel LDL receptor gene mutations causing heterozygous familial hypercholesterolemia in la Habana
    • Pereira E, Ferreira R, Hermelin B, et al. Recurrent and novel LDL receptor gene mutations causing heterozygous familial hypercholesterolemia in La Habana. Hum Genet 1995; 96: 319-22
    • (1995) Hum Genet , vol.96 , pp. 319-322
    • Pereira, E.1    Ferreira, R.2    Hermelin, B.3
  • 114
    • 0344081920 scopus 로고    scopus 로고
    • Increased carotid artery intima-media thickness is associated with a novel mutation of low-density lipoprotein receptor independently of major cardiovascular risk factors
    • Pauciullo P, Giannino A, De Michele M, et al. Increased carotid artery intima-media thickness is associated with a novel mutation of low-density lipoprotein receptor independently of major cardiovascular risk factors. Metabolism 2003; 52: 1433-8
    • (2003) Metabolism , vol.52 , pp. 1433-1438
    • Pauciullo, P.1    Giannino, A.2    De Michele, M.3
  • 115
    • 0037219157 scopus 로고    scopus 로고
    • Impact of genetic defects on coronary atherosclerosis in patients suspected of having familial hypercholesterolaemia
    • Descamps OS, Gilbeau JP, Luwaert R, Heller FR. Impact of genetic defects on coronary atherosclerosis in patients suspected of having familial hypercholesterolaemia. Eur J Clin Invest 2003; 33: 1-9
    • (2003) Eur J Clin Invest , vol.33 , pp. 1-9
    • Descamps, O.S.1    Gilbeau, J.P.2    Luwaert, R.3    Heller, F.R.4
  • 116
    • 0036133271 scopus 로고    scopus 로고
    • Economic evaluations of screening programs: A review of methods and results
    • Butler JR. Economic evaluations of screening programs: a review of methods and results. Clin Chim Acta 2002; 315: 31-40
    • (2002) Clin Chim Acta , vol.315 , pp. 31-40
    • Butler, J.R.1
  • 118
    • 0036132781 scopus 로고    scopus 로고
    • Screening for the early detection of disease, the need for evidence
    • McQueen MJ. Screening for the early detection of disease, the need for evidence. Clin Chim Acta 2002; 315: 5-15
    • (2002) Clin Chim Acta , vol.315 , pp. 5-15
    • McQueen, M.J.1
  • 120
    • 0036212565 scopus 로고    scopus 로고
    • Screening relatives of patients with premature coronary heart disease
    • Thompson GR. Screening relatives of patients with premature coronary heart disease. Heart 2002; 87: 390-4
    • (2002) Heart , vol.87 , pp. 390-394
    • Thompson, G.R.1
  • 121
    • 0025944056 scopus 로고
    • Risk of fatal coronary heart disease in familial hypercholesterolaemia
    • Scientific Steering Committee on behalf of the Simon Broome Register Group
    • Scientific Steering Committee on behalf of the Simon Broome Register Group. Risk of fatal coronary heart disease in familial hypercholesterolaemia. BMJ 1991; 303: 893-6
    • (1991) BMJ , vol.303 , pp. 893-896
  • 122
    • 0027301629 scopus 로고
    • Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics
    • Williams RR, Hunt SC, Schumacher MC, et al. Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics. Am J Cardiol 1993; 72: 171-6
    • (1993) Am J Cardiol , vol.72 , pp. 171-176
    • Williams, R.R.1    Hunt, S.C.2    Schumacher, M.C.3
  • 124
    • 0025767301 scopus 로고
    • Screening for familial hypercholesterolaemia by measurement of apolipoproteins in capillary blood
    • Skovby F, Micic S, Jepsen B, et al. Screening for familial hypercholesterolaemia by measurement of apolipoproteins in capillary blood. Arch Dis Child 1991; 66: 844-7
    • (1991) Arch Dis Child , vol.66 , pp. 844-847
    • Skovby, F.1    Micic, S.2    Jepsen, B.3
  • 125
    • 0027449252 scopus 로고
    • Documented need for more effective diagnosis and treatment of familial hypercholesterolemia according to data from 502 heterozygotes in Utah
    • Williams RR, Schumacher MC, Barlow GK, et al. Documented need for more effective diagnosis and treatment of familial hypercholesterolemia according to data from 502 heterozygotes in Utah. Am J Cardiol 1993; 72: 18D-24D
    • (1993) Am J Cardiol , vol.72
    • Williams, R.R.1    Schumacher, M.C.2    Barlow, G.K.3
  • 126
    • 26244447886 scopus 로고    scopus 로고
    • The use of Achilles tendon sonography to distinguish familial hypercholesterolemia from other genetic dyslipidemias
    • Junyent M, Gilabert R, Zambon D, et al. The use of Achilles tendon sonography to distinguish familial hypercholesterolemia from other genetic dyslipidemias. Arterioscler Thromb Vasc Biol 2005; 25: 2203-8
    • (2005) Arterioscler Thromb Vasc Biol , vol.25 , pp. 2203-2208
    • Junyent, M.1    Gilabert, R.2    Zambon, D.3
  • 127
    • 9444281943 scopus 로고    scopus 로고
    • Cascade genetic screening for familial hypercholesterolemia
    • Leren TP. Cascade genetic screening for familial hypercholesterolemia. Clin Genet 2004; 66: 483-7
    • (2004) Clin Genet , vol.66 , pp. 483-487
    • Leren, T.P.1
  • 128
    • 0034676774 scopus 로고    scopus 로고
    • Outcome of case finding among relatives of patients with known heterozygous familial hypercholesterolaemia
    • Bhatnagar D, Morgan J, Siddiq S, Mackness MI, Miller JP, Durrington PN. Outcome of case finding among relatives of patients with known heterozygous familial hypercholesterolaemia. BMJ 2000; 321: 1497-500
    • (2000) BMJ , vol.321 , pp. 1497-1500
    • Bhatnagar, D.1    Morgan, J.2    Siddiq, S.3    Mackness, M.I.4    Miller, J.P.5    Durrington, P.N.6
  • 131
    • 1642364524 scopus 로고    scopus 로고
    • Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: Results from a family-based screening program
    • Leren TP, Manshaus T, Skovholt U, et al. Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program. Semin Vasc Med 2004; 4: 75-85
    • (2004) Semin Vasc Med , vol.4 , pp. 75-85
    • Leren, T.P.1    Manshaus, T.2    Skovholt, U.3
  • 132
    • 0037326907 scopus 로고    scopus 로고
    • Systematic family screening for familial hypercholesterolemia in Iceland
    • Thorsson B, Sigurdsson G, Gudnason V. Systematic family screening for familial hypercholesterolemia in Iceland. Arterioscler Thromb Vasc Biol 2003; 23: 335-8
    • (2003) Arterioscler Thromb Vasc Biol , vol.23 , pp. 335-338
    • Thorsson, B.1    Sigurdsson, G.2    Gudnason, V.3
  • 133
    • 0032574154 scopus 로고    scopus 로고
    • The new genetics. Psychological responses to genetic testing
    • Marteau TM, Croyle RT. The new genetics. Psychological responses to genetic testing. BMJ 1998; 316: 693-6
    • (1998) BMJ , vol.316 , pp. 693-696
    • Marteau, T.M.1    Croyle, R.T.2
  • 134
    • 0031058511 scopus 로고    scopus 로고
    • Patients' attitudes towards detection of heterozygous familial hypercholesterolaemia
    • Andersen LK, Jensen HK, Juul S, Faergeman O. Patients' attitudes towards detection of heterozygous familial hypercholesterolaemia. Arch Intern Med 1997; 157: 553-60
    • (1997) Arch Intern Med , vol.157 , pp. 553-560
    • Andersen, L.K.1    Jensen, H.K.2    Juul, S.3    Faergeman, O.4
  • 135
    • 0033002158 scopus 로고    scopus 로고
    • Will genetic testing for predisposition for disease result in fatalism? A qualitative study of parents responses to neonatal screening for familial hypercholesterolaemia
    • Senior V, Marteau TM, Peters TJ. Will genetic testing for predisposition for disease result in fatalism? A qualitative study of parents responses to neonatal screening for familial hypercholesterolaemia. Soc Sci Med 1999; 48: 1857-60
    • (1999) Soc Sci Med , vol.48 , pp. 1857-1860
    • Senior, V.1    Marteau, T.M.2    Peters, T.J.3
  • 136
    • 17144387029 scopus 로고    scopus 로고
    • Cascade testing in familial hypercholesterolaemia: How should family members be contacted?
    • Newson AJ, Humphries SE. Cascade testing in familial hypercholesterolaemia: how should family members be contacted? Eur J Hum Genet 2005; 13: 401-8
    • (2005) Eur J Hum Genet , vol.13 , pp. 401-408
    • Newson, A.J.1    Humphries, S.E.2
  • 137
    • 23944437161 scopus 로고    scopus 로고
    • Lessons from European population genetic databases: Comparing the law in Estonia, Iceland, Sweden and the United Kingdom
    • Gibbons SM, Helgason HH, Kaye J, Nomper A, Wendel L. Lessons from European population genetic databases: comparing the law in Estonia, Iceland, Sweden and the United Kingdom. Eur J Health Law 2005; 12: 103-33
    • (2005) Eur J Health Law , vol.12 , pp. 103-133
    • Gibbons, S.M.1    Helgason, H.H.2    Kaye, J.3    Nomper, A.4    Wendel, L.5
  • 138
    • 22544433489 scopus 로고    scopus 로고
    • Implementation of cascade testing for the detection of familial hypercholesterolaemia
    • Hadfield SG, Humphries SE. Implementation of cascade testing for the detection of familial hypercholesterolaemia. Curr Opin Lipidol 2005; 16: 428-33
    • (2005) Curr Opin Lipidol , vol.16 , pp. 428-433
    • Hadfield, S.G.1    Humphries, S.E.2
  • 139
    • 0032511613 scopus 로고    scopus 로고
    • Late onset genetic disease: Where ignorance is bliss, is it folly to inform relatives?
    • Wilcke JT. Late onset genetic disease: where ignorance is bliss, is it folly to inform relatives? BMJ 1998; 317: 744-7
    • (1998) BMJ , vol.317 , pp. 744-747
    • Wilcke, J.T.1
  • 140
    • 22544455045 scopus 로고    scopus 로고
    • Use of community genetic screening to prevent HFE-associated hereditary haemochromatosis
    • Delatycki MB, Allen KJ, Nisselle AE, et al. Use of community genetic screening to prevent HFE-associated hereditary haemochromatosis. Lancet 2005; 366: 314-6
    • (2005) Lancet , vol.366 , pp. 314-316
    • Delatycki, M.B.1    Allen, K.J.2    Nisselle, A.E.3
  • 141
    • 0034869504 scopus 로고    scopus 로고
    • Psychosocial impact of C282Y mutation testing for hemochromatosis
    • Power TE, Adams PC. Psychosocial impact of C282Y mutation testing for hemochromatosis. Genet Test 2001; 5: 107-10
    • (2001) Genet Test , vol.5 , pp. 107-110
    • Power, T.E.1    Adams, P.C.2
  • 142
    • 0037438322 scopus 로고    scopus 로고
    • Risk perception of participants in a family-based genetic screening program on familial hypercholesterolemia
    • van Maarle MC, Stouthard ME, Bonsel GJ. Risk perception of participants in a family-based genetic screening program on familial hypercholesterolemia. Am J Med Genet A 2003; 116: 136-43
    • (2003) Am J Med Genet A , vol.116 , pp. 136-143
    • Van Maarle, M.C.1    Stouthard, M.E.2    Bonsel, G.J.3
  • 143
    • 1442274587 scopus 로고    scopus 로고
    • Effect of statin treatment for familial hypercholesterolaemia on life assurance: Results of consecutive surveys in 1990 and 2002
    • Neil HA, Hammond T, Mant D, Humphries SE. Effect of statin treatment for familial hypercholesterolaemia on life assurance: results of consecutive surveys in 1990 and 2002. BMJ 2004; 328: 500-1
    • (2004) BMJ , vol.328 , pp. 500-501
    • Neil, H.A.1    Hammond, T.2    Mant, D.3    Humphries, S.E.4
  • 144
    • 0025882211 scopus 로고
    • Cholesterol screening and life assurance
    • Neil HA, Mant D. Cholesterol screening and life assurance. BMJ 1991; 302: 891-3
    • (1991) BMJ , vol.302 , pp. 891-893
    • Neil, H.A.1    Mant, D.2
  • 145
    • 0032512261 scopus 로고    scopus 로고
    • Genetic discrimination in life insurance: Empirical evidence from a cross sectional survey of genetic support groups in the United Kingdom
    • Low L, King S, Wilkie T. Genetic discrimination in life insurance: empirical evidence from a cross sectional survey of genetic support groups in the United Kingdom. BMJ 1998; 317: 1632-5
    • (1998) BMJ , vol.317 , pp. 1632-1635
    • Low, L.1    King, S.2    Wilkie, T.3
  • 146
    • 0037140203 scopus 로고    scopus 로고
    • Insurance agreement to facilitate genetic testing
    • Delatycki M, Allen K, Williamson R. Insurance agreement to facilitate genetic testing. Lancet 2002; 359: 1433
    • (2002) Lancet , vol.359 , pp. 1433
    • Delatycki, M.1    Allen, K.2    Williamson, R.3
  • 147
    • 0842304921 scopus 로고    scopus 로고
    • Disclosure of genetic tests for health insurance: Is it ethical not to?
    • Raithatha N, Smith RD. Disclosure of genetic tests for health insurance: is it ethical not to? Lancet 2004; 363: 395-6
    • (2004) Lancet , vol.363 , pp. 395-396
    • Raithatha, N.1    Smith, R.D.2
  • 148
    • 17044427538 scopus 로고    scopus 로고
    • The relationship of molecular genetic to clinical diagnosis of familial hypercholesterolemia in a Danish population
    • Damgaard D, Larsen ML, Nissen PH, et al. The relationship of molecular genetic to clinical diagnosis of familial hypercholesterolemia in a Danish population. Atherosclerosis 2005; 180: 155-60
    • (2005) Atherosclerosis , vol.180 , pp. 155-160
    • Damgaard, D.1    Larsen, M.L.2    Nissen, P.H.3
  • 149
    • 27644476215 scopus 로고    scopus 로고
    • Comparison of genotypic and phenotypic strategies for population screening in hemochromatosis: Assessment of anxiety, depression, and perception of health
    • Patch C, Roderick P, Rosenberg W. Comparison of genotypic and phenotypic strategies for population screening in hemochromatosis: assessment of anxiety, depression, and perception of health. Genet Med 2005; 7: 550-6
    • (2005) Genet Med , vol.7 , pp. 550-556
    • Patch, C.1    Roderick, P.2    Rosenberg, W.3
  • 150
    • 0032744643 scopus 로고    scopus 로고
    • Ethical issues in molecular screening for heterozygous familial hypercholesterolemia: The complexity of dealing with genetic susceptibility to coronary artery disease
    • Gaudet D, Gagné C, Perron P, Couture P, Tonstad S. Ethical issues in molecular screening for heterozygous familial hypercholesterolemia: the complexity of dealing with genetic susceptibility to coronary artery disease. Commun Genet 1999; 2: 2-8
    • (1999) Commun Genet , vol.2 , pp. 2-8
    • Gaudet, D.1    Gagné, C.2    Perron, P.3    Couture, P.4    Tonstad, S.5
  • 151
    • 0037387855 scopus 로고    scopus 로고
    • 'Genetic exceptionalism' in medicine: Clarifying the differences between genetic and nongenetic tests
    • Green MJ, Botkin JR. 'Genetic exceptionalism' in medicine: clarifying the differences between genetic and nongenetic tests. Ann Intern Med 2003; 138: 571-5
    • (2003) Ann Intern Med , vol.138 , pp. 571-575
    • Green, M.J.1    Botkin, J.R.2
  • 153
    • 20444372258 scopus 로고    scopus 로고
    • Factors affecting the uptake of screening: A randomised controlled non-inferiority trial comparing a genotypic and a phenotypic strategy for screening for haemochromatosis
    • Patch C, Roderick P, Rosenberg W. Factors affecting the uptake of screening: a randomised controlled non-inferiority trial comparing a genotypic and a phenotypic strategy for screening for haemochromatosis. J Hepatol 2005; 43: 149-55
    • (2005) J Hepatol , vol.43 , pp. 149-155
    • Patch, C.1    Roderick, P.2    Rosenberg, W.3
  • 154
    • 20444412629 scopus 로고    scopus 로고
    • Hereditary haemochromatosis: To screen or not to screen?
    • Olynyk JK, Trinder D, Milward E. Hereditary haemochromatosis: to screen or not to screen? J Hepatol 2005; 43: 9-10
    • (2005) J Hepatol , vol.43 , pp. 9-10
    • Olynyk, J.K.1    Trinder, D.2    Milward, E.3
  • 155
    • 8844228187 scopus 로고    scopus 로고
    • Large heterogeneity of mutations in the gene encoding the low-density lipoprotein receptor in subjects with familial hypercholesterolaemia
    • Muller PY, Miserez AR. Large heterogeneity of mutations in the gene encoding the low-density lipoprotein receptor in subjects with familial hypercholesterolaemia. Atheroscler Suppl 2004; 5: 1-5
    • (2004) Atheroscler Suppl , vol.5 , pp. 1-5
    • Muller, P.Y.1    Miserez, A.R.2
  • 156
    • 8844287571 scopus 로고    scopus 로고
    • Mutation detection in patients with familial hypercholesterolaemia using heteroduplex and single strand conformation polymorphism analysis by capillary electrophoresis
    • Sozen M, Whittall R, Humphries SE. Mutation detection in patients with familial hypercholesterolaemia using heteroduplex and single strand conformation polymorphism analysis by capillary electrophoresis. Atheroscler Suppl 2004; 5: 7-11
    • (2004) Atheroscler Suppl , vol.5 , pp. 7-11
    • Sozen, M.1    Whittall, R.2    Humphries, S.E.3
  • 157
    • 24644511304 scopus 로고    scopus 로고
    • Genetic screening protocol for familial hypercholesterolemia which includes splicing defects gives an improved mutation detection rate
    • Graham CA, McIlhatton BP, Kirk CW, et al. Genetic screening protocol for familial hypercholesterolemia which includes splicing defects gives an improved mutation detection rate. Atherosclerosis 2005; 182: 331-40
    • (2005) Atherosclerosis , vol.182 , pp. 331-340
    • Graham, C.A.1    McIlhatton, B.P.2    Kirk, C.W.3
  • 158
    • 13944252816 scopus 로고    scopus 로고
    • Multiplex ligation-dependent probe amplification of LDLR enhances molecular diagnosis of familial hypercholesterolemia
    • Wang J, Ban MR, Hegele RA. Multiplex ligation-dependent probe amplification of LDLR enhances molecular diagnosis of familial hypercholesterolemia. J Lipid Res 2005; 46: 366-72
    • (2005) J Lipid Res , vol.46 , pp. 366-372
    • Wang, J.1    Ban, M.R.2    Hegele, R.A.3
  • 159
    • 26444469569 scopus 로고    scopus 로고
    • Detection of large deletions in the LDL receptor gene with quantitative PCR methods
    • Damgaard D, Nissen PH, Jensen LG, et al. Detection of large deletions in the LDL receptor gene with quantitative PCR methods. BMC Med Genet 2005; 6: 15
    • (2005) BMC Med Genet , vol.6 , pp. 15
    • Damgaard, D.1    Nissen, P.H.2    Jensen, L.G.3
  • 160
    • 27744466589 scopus 로고    scopus 로고
    • Health-information altruists - A potentially critical resource
    • Kohane IS, Altman RB. Health-information altruists - a potentially critical resource. N Engl J Med 2005; 353: 2074-7
    • (2005) N Engl J Med , vol.353 , pp. 2074-2077
    • Kohane, I.S.1    Altman, R.B.2
  • 161
    • 28844468394 scopus 로고    scopus 로고
    • Update of the molecular basis of familial hypercholesterolemia in the Netherlands
    • Fouchier SW, Kastelein JJ, Defesche JC. Update of the molecular basis of familial hypercholesterolemia in The Netherlands. Hum Mutat 2005; 26: 550-6
    • (2005) Hum Mutat , vol.26 , pp. 550-556
    • Fouchier, S.W.1    Kastelein, J.J.2    Defesche, J.C.3
  • 163
    • 1642296165 scopus 로고    scopus 로고
    • Familial hypercholesterolemia in Spain: Case-finding program, clinical and genetic aspects
    • Pocovi M, Civeira F, Alonso R, Mata P. Familial hypercholesterolemia in Spain: case-finding program, clinical and genetic aspects. Semin Vasc Med 2004; 4: 67-74
    • (2004) Semin Vasc Med , vol.4 , pp. 67-74
    • Pocovi, M.1    Civeira, F.2    Alonso, R.3    Mata, P.4
  • 164
    • 10744233618 scopus 로고    scopus 로고
    • Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia
    • International Panel on Management of Familial Hypercholesterolemia
    • Civeira F, International Panel on Management of Familial Hypercholesterolemia. Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. Atherosclerosis 2004; 173: 55-68
    • (2004) Atherosclerosis , vol.173 , pp. 55-68
    • Civeira, F.1
  • 165
    • 8844280077 scopus 로고    scopus 로고
    • Genetic screening of patients with familial hypercholesterolaemia (FH): A New Zealand perspective
    • Laurie AD, Scott RS, George PM. Genetic screening of patients with familial hypercholesterolaemia (FH): a New Zealand perspective. Atheroscler Suppl 2004; 5: 13-15
    • (2004) Atheroscler Suppl , vol.5 , pp. 13-15
    • Laurie, A.D.1    Scott, R.S.2    George, P.M.3
  • 166
    • 0036860336 scopus 로고    scopus 로고
    • The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark
    • Jensen HK. The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark. Dan Med Bull 2002; 49: 318-45
    • (2002) Dan Med Bull , vol.49 , pp. 318-345
    • Jensen, H.K.1
  • 167
    • 0036626893 scopus 로고    scopus 로고
    • LDL receptor mutation genotype and vascular disease phenotype in heterozygous familial hypercholesterolaemia
    • Brorholt-Petersen JU, Jensen HK, Jensen JM, et al. LDL receptor mutation genotype and vascular disease phenotype in heterozygous familial hypercholesterolaemia. Clin Genet 2002; 61: 408-15
    • (2002) Clin Genet , vol.61 , pp. 408-415
    • Brorholt-Petersen, J.U.1    Jensen, H.K.2    Jensen, J.M.3
  • 168
    • 0347287036 scopus 로고    scopus 로고
    • Provision of genetic services in Europe: Current practices and issues
    • European Society of Human Genetics' PPPC
    • European Society of Human Genetics' PPPC. Provision of genetic services in Europe: current practices and issues. Eur J Hum Genet 2003; 11: 900-2
    • (2003) Eur J Hum Genet , vol.11 , pp. 900-902
  • 169
    • 0347917229 scopus 로고    scopus 로고
    • Population genetic screening programmes: Technical, social and ethical issues
    • European Society of Human Genetics' PPPC
    • European Society of Human Genetics' PPPC. Population genetic screening programmes: technical, social and ethical issues. Eur J Hum Genet 2003; 11: 903-5
    • (2003) Eur J Hum Genet , vol.11 , pp. 903-905
  • 170
    • 1342282445 scopus 로고    scopus 로고
    • Genetic information and testing in insurance and employment: Technical, social and ethical issues
    • European Society of Human Genetics' PPPC
    • European Society of Human Genetics' PPPC. Genetic information and testing in insurance and employment: technical, social and ethical issues. Eur J Hum Genet 2003; 11: 909-10
    • (2003) Eur J Hum Genet , vol.11 , pp. 909-910
  • 171
    • 0035962377 scopus 로고    scopus 로고
    • Integrated regional genetic services: Current and future provision
    • Donnai D, Elles R. Integrated regional genetic services: current and future provision. BMJ 2001; 322: 1048-52
    • (2001) BMJ , vol.322 , pp. 1048-1052
    • Donnai, D.1    Elles, R.2
  • 172
    • 16244397414 scopus 로고    scopus 로고
    • Evidence based diagnostics
    • Gluud C, Gluud LL. Evidence based diagnostics. BMJ 2005; 330: 724-6
    • (2005) BMJ , vol.330 , pp. 724-726
    • Gluud, C.1    Gluud, L.L.2
  • 173
    • 26844559961 scopus 로고    scopus 로고
    • How can the evaluation of genetic tests be enhanced? Lessons learned from the ACCE framework and evaluating genetic tests in the United Kingdom
    • Sanderson S, Zimmern R, Kroese M, Higgins J, Patch C, Emery J. How can the evaluation of genetic tests be enhanced? Lessons learned from the ACCE framework and evaluating genetic tests in the United Kingdom. Genet Med 2005; 7: 495-500
    • (2005) Genet Med , vol.7 , pp. 495-500
    • Sanderson, S.1    Zimmern, R.2    Kroese, M.3    Higgins, J.4    Patch, C.5    Emery, J.6
  • 174
    • 0037408078 scopus 로고    scopus 로고
    • External quality assurance program for PCR amplification of genomic DNA: An Italian experience
    • Raggi CC, Pinzani P, Paradiso A, Pazzagli M, Orlando C. External quality assurance program for PCR amplification of genomic DNA: an Italian experience. Clin Chem 2003; 49: 782-91
    • (2003) Clin Chem , vol.49 , pp. 782-791
    • Raggi, C.C.1    Pinzani, P.2    Paradiso, A.3    Pazzagli, M.4    Orlando, C.5
  • 175
    • 0037406281 scopus 로고    scopus 로고
    • Alternative approaches to proficiency testing in molecular genetics
    • Richards CS, Grody WW. Alternative approaches to proficiency testing in molecular genetics. Clin Chem 2003; 49: 717-18
    • (2003) Clin Chem , vol.49 , pp. 717-718
    • Richards, C.S.1    Grody, W.W.2
  • 176
    • 0027515626 scopus 로고
    • Cost-effectiveness considerations in the treatment of heterozygous familial hypercholesterolemia with medications
    • Goldman L, Goldman PA, Williams LW, et al. Cost-effectiveness
    • (1993) Am J Cardiol , vol.72
    • Goldman, L.1    Goldman, P.A.2    Williams, L.W.3
  • 177
    • 0037434078 scopus 로고    scopus 로고
    • Long-term compliance with lipid-lowering medication after genetic screening for familial hypercholesterolemia
    • Umans-Eckenhausen MA, Defesche JC, van Dam MJ, Kastelein JJ. Long-term compliance with lipid-lowering medication after genetic screening for familial hypercholesterolemia. Arch Intern Med 2003; 163: 65-8
    • (2003) Arch Intern Med , vol.163 , pp. 65-68
    • Umans-Eckenhausen, M.A.1    Defesche, J.C.2    Van Dam, M.J.3    Kastelein, J.J.4
  • 178
    • 0842309234 scopus 로고    scopus 로고
    • Cardiovascular disease and mortality in statin-treated patients with familial hypercholesterolemia
    • Mohrschladt MF, Westendorp RG, Gevers Leuven JA, Smelt AH. Cardiovascular disease and mortality in statin-treated patients with familial hypercholesterolemia. Atherosclerosis 2004; 172: 329-35
    • (2004) Atherosclerosis , vol.172 , pp. 329-335
    • Mohrschladt, M.F.1    Westendorp, R.G.2    Gevers Leuven, J.A.3    Smelt, A.H.4
  • 180
    • 0036901111 scopus 로고    scopus 로고
    • Cost-effectiveness of a family and DNA based screening programme on familial hypercholesterolaemia in the Netherlands
    • Marang-van de Mheen PJ, ten Asbroek AH, Bonneux L, et al. Cost-effectiveness of a family and DNA based screening programme on familial hypercholesterolaemia in the Netherlands. Eur Heart J 2002; 23: 1922-30
    • (2002) Eur Heart J , vol.23 , pp. 1922-1930
    • Marang-van De Mheen, P.J.1    Ten Asbroek, A.H.2    Bonneux, L.3
  • 181
    • 0033645679 scopus 로고    scopus 로고
    • Screening for hypercholesterolaemia versus case finding for familial hypercholesterolaemia: A systematic review and cost-effectiveness analysis
    • Marks D, Wonderling D, Thorogood M, et al. Screening for hypercholesterolaemia versus case finding for familial hypercholesterolaemia: a systematic review and cost-effectiveness analysis. Health Technol Assess 2000; 4: 1-123
    • (2000) Health Technol Assess , vol.4 , pp. 1-123
    • Marks, D.1    Wonderling, D.2    Thorogood, M.3
  • 182
    • 0036607353 scopus 로고    scopus 로고
    • Cost effectiveness analysis of different approaches of screening for familial hypercholesterolaemia
    • Marks D, Wonderling D, Thorogood M, et al. Cost effectiveness analysis of different approaches of screening for familial hypercholesterolaemia. BMJ 2002; 324: 1303-8
    • (2002) BMJ , vol.324 , pp. 1303-1308
    • Marks, D.1    Wonderling, D.2    Thorogood, M.3
  • 184
    • 84873689282 scopus 로고    scopus 로고
    • Institute for Clinical Systems Improvement (ICSI). Bloomington (MN): Institute for Clinical Systems Improvement (ICSI). Accessed at June 2004
    • Institute for Clinical Systems Improvement (ICSI). Lipid screening in children and adolescents. Bloomington (MN): Institute for Clinical Systems Improvement (ICSI). Accessed at http://www.guideline.gov/summary/summary.aspx? view_id=1&doc_id=5453&nbr=3730 June 2004
    • Lipid Screening in Children and Adolescents
  • 186
    • 0038278510 scopus 로고    scopus 로고
    • The apolipoprotein epsilon4 allele confers additional risk in children with familial hypercholesterolemia
    • Wiegman A, Sijbrands EJ, Rodenburg J, et al. The apolipoprotein epsilon4 allele confers additional risk in children with familial hypercholesterolemia. Pediatr Res 2003; 53: 1008-12
    • (2003) Pediatr Res , vol.53 , pp. 1008-1012
    • Wiegman, A.1    Sijbrands, E.J.2    Rodenburg, J.3
  • 187
    • 0038620489 scopus 로고    scopus 로고
    • Apolipoprotein E genotype is not associated with cardiovascular disease in heterozygous subjects with familial hypercholesterolemia
    • Spanish group FH
    • Mozas P, Castillo S, Reyes G, et al. Spanish group FH. Apolipoprotein E genotype is not associated with cardiovascular disease in heterozygous subjects with familial hypercholesterolemia. Am Heart J 2003; 145: 999-1005
    • (2003) Am Heart J , vol.145 , pp. 999-1005
    • Mozas, P.1    Castillo, S.2    Reyes, G.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.