-
1
-
-
0032890205
-
Mortality in treated heterozygous familial hypercholesterolaemia: implications for clinical management, Scientific Steering Committee on behalf of the Simon Broome Register Group
-
Mortality in treated heterozygous familial hypercholesterolaemia: implications for clinical management, Scientific Steering Committee on behalf of the Simon Broome Register Group. Atherosclerosis 142 (1999) 105-112
-
(1999)
Atherosclerosis
, vol.142
, pp. 105-112
-
-
-
2
-
-
0027301629
-
Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics
-
Williams R.R., Hunt S.C., Schumacher M.C., et al. Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics. Am J Cardiol 72 (1993) 171-176
-
(1993)
Am J Cardiol
, vol.72
, pp. 171-176
-
-
Williams, R.R.1
Hunt, S.C.2
Schumacher, M.C.3
-
3
-
-
24144475212
-
Tendon xanthomas in familial hypercholesterolemia are associated with cardiovascular risk independently of the low-density lipoprotein receptor gene mutation
-
Civeira F., Castillo S., Alonso R., et al. Tendon xanthomas in familial hypercholesterolemia are associated with cardiovascular risk independently of the low-density lipoprotein receptor gene mutation. Arterioscler Thromb Vasc Biol 25 (2005) 1960-1965
-
(2005)
Arterioscler Thromb Vasc Biol
, vol.25
, pp. 1960-1965
-
-
Civeira, F.1
Castillo, S.2
Alonso, R.3
-
4
-
-
33748787440
-
Diagnosing familial hypercholesterolaemia: the relevance of genetic testing
-
van Aalst-Cohen E.S., Jansen A.C., Tanck M.W., et al. Diagnosing familial hypercholesterolaemia: the relevance of genetic testing. Eur Heart J 27 (2006) 2240-2246
-
(2006)
Eur Heart J
, vol.27
, pp. 2240-2246
-
-
van Aalst-Cohen, E.S.1
Jansen, A.C.2
Tanck, M.W.3
-
5
-
-
10744221851
-
Comparison of the risk of fatal coronary heart disease in treated xanthomatous and non-xanthomatous heterozygous familial hypercholesterolaemia: a prospective registry study
-
Neil H.A., Huxley R.R., Hawkins M.M., Durrington P.N., Betteridge D.J., and Humphries S.E. Comparison of the risk of fatal coronary heart disease in treated xanthomatous and non-xanthomatous heterozygous familial hypercholesterolaemia: a prospective registry study. Atherosclerosis 170 (2003) 73-78
-
(2003)
Atherosclerosis
, vol.170
, pp. 73-78
-
-
Neil, H.A.1
Huxley, R.R.2
Hawkins, M.M.3
Durrington, P.N.4
Betteridge, D.J.5
Humphries, S.E.6
-
6
-
-
33344474328
-
Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: relationship with plasma lipid traits, heart disease risk and utility in relative tracing
-
Humphries S.E., Cranston T., Allen M., et al. Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: relationship with plasma lipid traits, heart disease risk and utility in relative tracing. J Mol Med (Berlin Germany) 84 (2006) 203-214
-
(2006)
J Mol Med (Berlin Germany)
, vol.84
, pp. 203-214
-
-
Humphries, S.E.1
Cranston, T.2
Allen, M.3
-
8
-
-
0017072292
-
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., and Beaumont J.L. Ischaemic disease in men and women with familial hypercholesterolaemia and xanthomatosis. A comparative study of genetic and environmental factors in 274 heterozygous cases. Atherosclerosis 24 (1976) 441-450
-
(1976)
Atherosclerosis
, vol.24
, pp. 441-450
-
-
Beaumont, V.1
Jacotot, B.2
Beaumont, J.L.3
-
9
-
-
0015359412
-
Tracing and treatment of children with essential familial hypercholesterolemia
-
Andersen G.E., and Clausen J. Tracing and treatment of children with essential familial hypercholesterolemia. Z Ernahrungswiss 11 (1972) 120-137
-
(1972)
Z Ernahrungswiss
, vol.11
, pp. 120-137
-
-
Andersen, G.E.1
Clausen, J.2
-
10
-
-
0015340151
-
Familial hypercholesterolemia in a large kindred. Evidence for a monogenic mechanism
-
Schrott H.G., Goldstein J.L., Hazzard W.R., McGoodwin M.M., and Motulsky A.G. Familial hypercholesterolemia in a large kindred. Evidence for a monogenic mechanism. Ann Intern Med 76 (1972) 711-720
-
(1972)
Ann Intern Med
, vol.76
, pp. 711-720
-
-
Schrott, H.G.1
Goldstein, J.L.2
Hazzard, W.R.3
McGoodwin, M.M.4
Motulsky, A.G.5
-
11
-
-
0015583417
-
Comparison of clinical findings in patients with hyperglyceridaemia and familial hypercholesterolaemia
-
Miettinen T.A., and Aroyuj A. Comparison of clinical findings in patients with hyperglyceridaemia and familial hypercholesterolaemia. Ann Clin Res 5 (1973) 1-6
-
(1973)
Ann Clin Res
, vol.5
, pp. 1-6
-
-
Miettinen, T.A.1
Aroyuj, A.2
-
12
-
-
0018115698
-
Plasma high-density lipoproteins and ischemic heart disease: studies in a large kindred with familial hypercholesterolemia
-
Streja D., Steiner G., and Kwiterovich Jr. P.O. Plasma high-density lipoproteins and ischemic heart disease: studies in a large kindred with familial hypercholesterolemia. Ann Intern Med 89 (1978) 871-880
-
(1978)
Ann Intern Med
, vol.89
, pp. 871-880
-
-
Streja, D.1
Steiner, G.2
Kwiterovich Jr., P.O.3
-
13
-
-
0018696286
-
Heterozygous familial hypercholesterolemia. Relationship between plasma lipids, lipoproteins, clinical manifestations and ischaemic heart disease in men and women
-
Gagne C., Moorjani S., Brun D., Toussaint M., and Lupien P.J. Heterozygous familial hypercholesterolemia. Relationship between plasma lipids, lipoproteins, clinical manifestations and ischaemic heart disease in men and women. Atherosclerosis 34 (1979) 13-24
-
(1979)
Atherosclerosis
, vol.34
, pp. 13-24
-
-
Gagne, C.1
Moorjani, S.2
Brun, D.3
Toussaint, M.4
Lupien, P.J.5
-
14
-
-
0040520535
-
Clinical manifestations of heterozygote familial hypercholesterolemia in Spain. Study of 301 cases from the central and northern areas
-
Garces C., Rodriguez Artalejo F., Serrano A., et al. Clinical manifestations of heterozygote familial hypercholesterolemia in Spain. Study of 301 cases from the central and northern areas. Med Clin 114 (2000) 50-51
-
(2000)
Med Clin
, vol.114
, pp. 50-51
-
-
Garces, C.1
Rodriguez Artalejo, F.2
Serrano, A.3
-
15
-
-
0032993468
-
The type of mutation in the low density lipoprotein receptor gene influences the cholesterol-lowering response of the HMG-CoA reductase inhibitor simvastatin in patients with heterozygous familial hypercholesterolaemia
-
Heath K.E., Gudnason V., Humphries S.E., and Seed M. The type of mutation in the low density lipoprotein receptor gene influences the cholesterol-lowering response of the HMG-CoA reductase inhibitor simvastatin in patients with heterozygous familial hypercholesterolaemia. Atherosclerosis 143 (1999) 41-54
-
(1999)
Atherosclerosis
, vol.143
, pp. 41-54
-
-
Heath, K.E.1
Gudnason, V.2
Humphries, S.E.3
Seed, M.4
-
16
-
-
34447121894
-
Real-time spatial compound sonography of Achilles tendon in patients with heterozygous familial hypercholesterolaemia and normal physical examination
-
Bartolotta T.V., Taibbi A., Malizia G., et al. Real-time spatial compound sonography of Achilles tendon in patients with heterozygous familial hypercholesterolaemia and normal physical examination. Radiol Med 112 (2007) 562-571
-
(2007)
Radiol Med
, vol.112
, pp. 562-571
-
-
Bartolotta, T.V.1
Taibbi, A.2
Malizia, G.3
-
17
-
-
0025780322
-
Family studies of the LDL receptor gene of relatively severe hereditary hypercholesterolemia associated with Achilles tendon xanthomas
-
Yamakawa K., Yanagi H., Saku K., et al. Family studies of the LDL receptor gene of relatively severe hereditary hypercholesterolemia associated with Achilles tendon xanthomas. Hum Genet 86 (1991) 445-449
-
(1991)
Hum Genet
, vol.86
, pp. 445-449
-
-
Yamakawa, K.1
Yanagi, H.2
Saku, K.3
-
18
-
-
33845597078
-
Autoantibody titers against OxLDL are correlated with Achilles tendon thickness in patients with familial hypercholesterolemia
-
Tsouli S.G., Kiortsis D.N., Lourida E.S., et al. Autoantibody titers against OxLDL are correlated with Achilles tendon thickness in patients with familial hypercholesterolemia. J Lipid Res 47 (2006) 2208-2214
-
(2006)
J Lipid Res
, vol.47
, pp. 2208-2214
-
-
Tsouli, S.G.1
Kiortsis, D.N.2
Lourida, E.S.3
-
19
-
-
0031023733
-
l-Arginine prevents xanthoma development and inhibits atherosclerosis in LDL receptor knockout mice
-
Aji W., Ravalli S., Szabolcs M., et al. l-Arginine prevents xanthoma development and inhibits atherosclerosis in LDL receptor knockout mice. Circulation 95 (1997) 430-437
-
(1997)
Circulation
, vol.95
, pp. 430-437
-
-
Aji, W.1
Ravalli, S.2
Szabolcs, M.3
-
20
-
-
0023904446
-
Preventive effect of pravastatin sodium, a potent inhibitor of 3-hydroxy-3-methylglutaryl coenzyme A reductase, on coronary atherosclerosis and xanthoma in WHHL rabbits
-
Watanabe Y., Ito T., Shiomi M., et al. Preventive effect of pravastatin sodium, a potent inhibitor of 3-hydroxy-3-methylglutaryl coenzyme A reductase, on coronary atherosclerosis and xanthoma in WHHL rabbits. Biochim Biophys Acta 960 (1988) 294-302
-
(1988)
Biochim Biophys Acta
, vol.960
, pp. 294-302
-
-
Watanabe, Y.1
Ito, T.2
Shiomi, M.3
-
21
-
-
0023753666
-
Effect of probucol on macrophages, leading to regression of xanthomas and atheromatous vascular lesions
-
Yamamoto A., Hara H., Takaichi S., Wakasugi J., and Tomikawa M. Effect of probucol on macrophages, leading to regression of xanthomas and atheromatous vascular lesions. Am J Cardiol 62 (1988) 31B-36B
-
(1988)
Am J Cardiol
, vol.62
-
-
Yamamoto, A.1
Hara, H.2
Takaichi, S.3
Wakasugi, J.4
Tomikawa, M.5
-
22
-
-
23644443991
-
Tendon xanthomas in familial hypercholesterolemia are associated with a differential inflammatory response of macrophages to oxidized LDL
-
Artieda M., Cenarro A., Junquera C., et al. Tendon xanthomas in familial hypercholesterolemia are associated with a differential inflammatory response of macrophages to oxidized LDL. FEBS Lett 579 (2005) 4503-4512
-
(2005)
FEBS Lett
, vol.579
, pp. 4503-4512
-
-
Artieda, M.1
Cenarro, A.2
Junquera, C.3
-
23
-
-
0017690806
-
Discrimination of familial hypercholesterolemia and secondary hypercholesterolemia by Achilles' tendon thickness
-
Mabuchi H., Ito S., Haba T., Ueda K., and Ueda R. Discrimination of familial hypercholesterolemia and secondary hypercholesterolemia by Achilles' tendon thickness. Atherosclerosis 28 (1977) 61-68
-
(1977)
Atherosclerosis
, vol.28
, pp. 61-68
-
-
Mabuchi, H.1
Ito, S.2
Haba, T.3
Ueda, K.4
Ueda, R.5
-
24
-
-
0027406132
-
Characteristic features of long-living patients with familial hypercholesterolemia in Japan
-
Murano S., Shinomiya M., Shirai K., Saito Y., and Yoshida S. Characteristic features of long-living patients with familial hypercholesterolemia in Japan. J Am Geriatr Soc 41 (1993) 253-257
-
(1993)
J Am Geriatr Soc
, vol.41
, pp. 253-257
-
-
Murano, S.1
Shinomiya, M.2
Shirai, K.3
Saito, Y.4
Yoshida, S.5
-
25
-
-
0024211990
-
Ultrasonography of achilles tendons in primary hypercholesterolemia. Comparison with computed tomography
-
Steinmetz A., Schmitt W., Schuler P., Kleinsorge F., Schneider J., and Kaffarnik H. Ultrasonography of achilles tendons in primary hypercholesterolemia. Comparison with computed tomography. Atherosclerosis 74 (1988) 231-239
-
(1988)
Atherosclerosis
, vol.74
, pp. 231-239
-
-
Steinmetz, A.1
Schmitt, W.2
Schuler, P.3
Kleinsorge, F.4
Schneider, J.5
Kaffarnik, H.6
-
28
-
-
26244447886
-
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 25 (2005) 2203-2208
-
(2005)
Arterioscler Thromb Vasc Biol
, vol.25
, pp. 2203-2208
-
-
Junyent, M.1
Gilabert, R.2
Zambon, D.3
-
29
-
-
0018129157
-
Achilles tendon thickness and ischemic heart disease in familial hypercholesterolemia
-
Mabuchi H., Tatami R., Haba T., et al. Achilles tendon thickness and ischemic heart disease in familial hypercholesterolemia. Metabolism 27 (1978) 1672-1679
-
(1978)
Metabolism
, vol.27
, pp. 1672-1679
-
-
Mabuchi, H.1
Tatami, R.2
Haba, T.3
-
30
-
-
33645848484
-
Correlation of Achilles tendon thickness evaluated by ultrasonography with carotid intima-media thickness in patients with familial hypercholesterolemia
-
Kiortsis D.N., Argyropoulou M.I., Xydis V., Tsouli S.G., and Elisaf M.S. Correlation of Achilles tendon thickness evaluated by ultrasonography with carotid intima-media thickness in patients with familial hypercholesterolemia. Atherosclerosis 186 (2006) 228-229
-
(2006)
Atherosclerosis
, vol.186
, pp. 228-229
-
-
Kiortsis, D.N.1
Argyropoulou, M.I.2
Xydis, V.3
Tsouli, S.G.4
Elisaf, M.S.5
-
31
-
-
0020658570
-
Coronary insufficiency in hypercholesterolemic xanthomatosis. Angiographic aspects
-
Abadie E., Masquet C., Guiomard A., and Passa P. Coronary insufficiency in hypercholesterolemic xanthomatosis. Angiographic aspects. Presse Med 12 (1983) 335-338
-
(1983)
Presse Med
, vol.12
, pp. 335-338
-
-
Abadie, E.1
Masquet, C.2
Guiomard, A.3
Passa, P.4
-
32
-
-
0029091696
-
Coronary artery disease in heterozygous familial hypercholesterolemia patients with the same LDL receptor gene mutation
-
Ferrieres J., Lambert J., Lussier-Cacan S., and Davignon J. Coronary artery disease in heterozygous familial hypercholesterolemia patients with the same LDL receptor gene mutation. Circulation 92 (1995) 290-295
-
(1995)
Circulation
, vol.92
, pp. 290-295
-
-
Ferrieres, J.1
Lambert, J.2
Lussier-Cacan, S.3
Davignon, J.4
-
33
-
-
0032457124
-
Carotid intima-media thickness and plaque in patients with familial hypercholesterolaemia mutations and control subjects
-
Tonstad S., Joakimsen O., Stensland-Bugge E., Ose L., Bonaa K.H., and Leren T.P. Carotid intima-media thickness and plaque in patients with familial hypercholesterolaemia mutations and control subjects. Eur J Clin Invest 28 (1998) 971-979
-
(1998)
Eur J Clin Invest
, vol.28
, pp. 971-979
-
-
Tonstad, S.1
Joakimsen, O.2
Stensland-Bugge, E.3
Ose, L.4
Bonaa, K.H.5
Leren, T.P.6
-
34
-
-
0034268668
-
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 20 (2000) E41-52
-
(2000)
Arterioscler Thromb Vasc Biol
, vol.20
-
-
Bertolini, S.1
Cantafora, A.2
Averna, M.3
-
35
-
-
0033991519
-
Coexisting dysbetalipoproteinemia and familial hypercholesterolemia. Clinical and laboratory observations
-
Carmena R., Roy M., Roederer G., Minnich A., and Davignon J. Coexisting dysbetalipoproteinemia and familial hypercholesterolemia. Clinical and laboratory observations. Atherosclerosis 148 (2000) 113-124
-
(2000)
Atherosclerosis
, vol.148
, pp. 113-124
-
-
Carmena, R.1
Roy, M.2
Roederer, G.3
Minnich, A.4
Davignon, J.5
-
36
-
-
0034907013
-
The use of Achilles tendon ultrasonography for the diagnosis of familial hypercholesterolemia
-
Descamps O.S., Leysen X., Van Leuven F., and Heller F.R. The use of Achilles tendon ultrasonography for the diagnosis of familial hypercholesterolemia. Atherosclerosis 157 (2001) 514-518
-
(2001)
Atherosclerosis
, vol.157
, pp. 514-518
-
-
Descamps, O.S.1
Leysen, X.2
Van Leuven, F.3
Heller, F.R.4
-
37
-
-
3042800597
-
FH clinical phenotype in Greek patients with LDL-R defective vs. negative mutations
-
Dedoussis G.V., Skoumas J., Pitsavos C., et al. FH clinical phenotype in Greek patients with LDL-R defective vs. negative mutations. Eur J Clin Invest 34 (2004) 402-409
-
(2004)
Eur J Clin Invest
, vol.34
, pp. 402-409
-
-
Dedoussis, G.V.1
Skoumas, J.2
Pitsavos, C.3
-
38
-
-
8644267517
-
Clinical and biochemical characteristics of familial ligand-defective apo B-100 in a South European population
-
Ejarque I., Real J.T., Chaves F.J., et al. Clinical and biochemical characteristics of familial ligand-defective apo B-100 in a South European population. Med Clin 123 (2004) 456-459
-
(2004)
Med Clin
, vol.123
, pp. 456-459
-
-
Ejarque, I.1
Real, J.T.2
Chaves, F.J.3
-
39
-
-
40549095001
-
Familial hypercholesterolemia: the Cape Town experience
-
Firth J.C., and Marais A.D. Familial hypercholesterolemia: the Cape Town experience. S Afr Med J 98 (2008) 99-104
-
(2008)
S Afr Med J
, vol.98
, pp. 99-104
-
-
Firth, J.C.1
Marais, A.D.2
-
40
-
-
68949209116
-
5-Lipoxygenase activating protein (ALOX5AP) gene variants associate with the presence of xanthomas in familial hypercholesterolemia
-
doi:10.1016/j.atherosclerosis.2009.02.019
-
Oosterveer DM, Versmissen J, Yazdanpanah M, van der Net JB, Defesche JC, Kastelein JJP, Sijbrands EJG. 5-Lipoxygenase activating protein (ALOX5AP) gene variants associate with the presence of xanthomas in familial hypercholesterolemia. Atherosclerosis, 2009, doi:10.1016/j.atherosclerosis.2009.02.019.
-
Atherosclerosis
, vol.2009
-
-
Oosterveer, D.M.1
Versmissen, J.2
Yazdanpanah, M.3
van der Net, J.B.4
Defesche, J.C.5
Kastelein, J.J.P.6
Sijbrands, E.J.G.7
-
41
-
-
62649140865
-
Arachidonate 5-lipoxygenase-activating protein (ALOX5AP) gene and coronary heart disease risk in familial hypercholesterolemia
-
van der Net J.B., Versmissen J., Oosterveer D.M., et al. Arachidonate 5-lipoxygenase-activating protein (ALOX5AP) gene and coronary heart disease risk in familial hypercholesterolemia. Atherosclerosis 203 (2009) 472-478
-
(2009)
Atherosclerosis
, vol.203
, pp. 472-478
-
-
van der Net, J.B.1
Versmissen, J.2
Oosterveer, D.M.3
-
42
-
-
0032718547
-
A frequent mutation in the lipoprotein lipase gene (D9N) deteriorates the biochemical and clinical phenotype of familial hypercholesterolemia
-
Wittekoek M.E., Moll E., Pimstone S.N., et al. A frequent mutation in the lipoprotein lipase gene (D9N) deteriorates the biochemical and clinical phenotype of familial hypercholesterolemia. Arterioscler Thromb Vasc Biol 19 (1999) 2708-2713
-
(1999)
Arterioscler Thromb Vasc Biol
, vol.19
, pp. 2708-2713
-
-
Wittekoek, M.E.1
Moll, E.2
Pimstone, S.N.3
-
44
-
-
21544461239
-
Genetic determinants of cardiovascular disease risk in familial hypercholesterolemia
-
Jansen A.C., van Aalst-Cohen E.S., Tanck M.W., et al. Genetic determinants of cardiovascular disease risk in familial hypercholesterolemia. Arterioscler Thromb Vasc Biol 25 (2005) 1475-1481
-
(2005)
Arterioscler Thromb Vasc Biol
, vol.25
, pp. 1475-1481
-
-
Jansen, A.C.1
van Aalst-Cohen, E.S.2
Tanck, M.W.3
-
45
-
-
0037322439
-
Prevalence and significance of cardiovascular risk factors in a large cohort of patients with familial hypercholesterolemia
-
de Sauvage Nolting P.R.W., Defesche J., Buirma R.J.A., Hutten B.A., Lansberg P.J., and Kastelein J.J.P. Prevalence and significance of cardiovascular risk factors in a large cohort of patients with familial hypercholesterolemia. J Intern Med 253 (2003) 161-168
-
(2003)
J Intern Med
, vol.253
, pp. 161-168
-
-
de Sauvage Nolting, P.R.W.1
Defesche, J.2
Buirma, R.J.A.3
Hutten, B.A.4
Lansberg, P.J.5
Kastelein, J.J.P.6
-
46
-
-
0037098178
-
How should meta-regression analyses be undertaken and interpreted?
-
Thompson S.G., and Higgins P.T. How should meta-regression analyses be undertaken and interpreted?. Stat Med 21 (2002) 1559-1573
-
(2002)
Stat Med
, vol.21
, pp. 1559-1573
-
-
Thompson, S.G.1
Higgins, P.T.2
|