-
1
-
-
0000600880
-
Familial hypercholesterolemia
-
Scriver CR, Baudet AL, Sly WS, Valle D, eds. New York: McGraw-Hill
-
Goldstein JL, Hobbs HH, Brown MS. Familial hypercholesterolemia. In: Scriver CR, Baudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Diseases. New York: McGraw-Hill; 2001:2863-2913.
-
(2001)
The Metabolic and Molecular Bases of Inherited Diseases
, pp. 2863-2913
-
-
Goldstein, J.L.1
Hobbs, H.H.2
Brown, M.S.3
-
3
-
-
4444328790
-
Familial hypercholesterolemia and coronary heart disease: A HuGE association
-
Austin MA, Hutter CM, Zimmern RL, Humphries SE. Familial hypercholesterolemia and coronary heart disease: a HuGE association. Am J Epidemiol. 2004;160:421-429.
-
(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
-
4
-
-
0029091696
-
Coronary artery disease in heterozygous familial hypercholesterolemia patients with the same LDL receptor gene mutation
-
Ferrieres J, Lambert J, Lussier-Cacan S, Davignon J. Coronary artery disease in heterozygous familial hypercholesterolemia patients with the same LDL receptor gene mutation. Circulation. 1995;92:290-295.
-
(1995)
Circulation
, vol.92
, pp. 290-295
-
-
Ferrieres, J.1
Lambert, J.2
Lussier-Cacan, S.3
Davignon, J.4
-
5
-
-
0031838215
-
Phenotypic variation in heterozygous familial hypercholesterolemia. A comparison of Chinese patients with the same or similar mutations in the LDL receptor gene in China and 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 and Canada. Arterioscler Thromb Vasc Biol. 1998;18:309-315.
-
(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
-
6
-
-
0037058849
-
Low density lipoprotein receptor gene mutations and cardiovascular risk in a large genetic cascade screening population
-
Umans-Eckenhausen MAW, Sijbrands EJG, Kastelein JJP, Defesche JC. Low density lipoprotein receptor gene mutations and cardiovascular risk in a large genetic cascade screening population. Circulation. 2002;106:3031-3036.
-
(2002)
Circulation
, vol.106
, pp. 3031-3036
-
-
Umans-Eckenhausen, M.A.W.1
Sijbrands, E.J.G.2
Kastelein, J.J.P.3
Defesche, J.C.4
-
7
-
-
9644287995
-
The contribution of classical risk factors to cardiovascular disease in familial hypercholesterolemia: Data in 2400 patients
-
Jansen ACM, van Aalst-Cohen ES, Tanck MW, Trip MD, Lansberg PJ, Liem AH, Roeters van Lennep HWO, Sijbrands EJG, Kastelein JJP. The contribution of classical risk factors to cardiovascular disease in familial hypercholesterolemia: data in 2400 patients. J Intern Med. 2004;256:482-490.
-
(2004)
J Intern Med
, vol.256
, pp. 482-490
-
-
Jansen, A.C.M.1
Van Aalst-Cohen, E.S.2
Tanck, M.W.3
Trip, M.D.4
Lansberg, P.J.5
Liem, A.H.6
Roeters Van Lennep, H.W.O.7
Sijbrands, E.J.G.8
Kastelein, J.J.P.9
-
8
-
-
0026499899
-
Arterial wall thickness in familial hypercholesterolemia. Ultrasound measurement of intima-media thickness in the common carotid artery
-
Wendelhag I, Wiklund O, Wikstrands J. Arterial wall thickness in familial hypercholesterolemia. Ultrasound measurement of intima-media thickness in the common carotid artery. Arterioscler Thromb. 1992;12:70-77.
-
(1992)
Arterioscler Thromb
, vol.12
, pp. 70-77
-
-
Wendelhag, I.1
Wiklund, O.2
Wikstrands, J.3
-
9
-
-
0032457124
-
Carotid intima-media thickness and plaque in patients with familial hypercholesterolemia mutations and control subjects
-
Tonstad S, Joakimsen O, Stensland-Bugge E, Ose L, Bonaa KH, Leren TP. Carotid intima-media thickness and plaque in patients with familial hypercholesterolemia mutations and control subjects. Eur J Clin Invest. 1998;28:971-979.
-
(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
-
10
-
-
0036175627
-
Positive family history for coronary heart disease and 'midband lipoproteins' are potential risk factors of carotid atherosclerosis in familial hypercholesterolemia
-
Taira K, Bujo H, Kobayashi J, Takahashi K, Miyazaki A, Saito Y. Positive family history for coronary heart disease and 'midband lipoproteins' are potential risk factors of carotid atherosclerosis in familial hypercholesterolemia. Atherosclerosis. 2002;160:391-397.
-
(2002)
Atherosclerosis
, vol.160
, pp. 391-397
-
-
Taira, K.1
Bujo, H.2
Kobayashi, J.3
Takahashi, K.4
Miyazaki, A.5
Saito, Y.6
-
11
-
-
0035780209
-
Impact of genetic defects on atherosclerosis in patients suspected of familial hypercholesterolaemia
-
Descamps OS, Gilbeau JP, Leysen X, Van Leuven F, Heller FR. Impact of genetic defects on atherosclerosis in patients suspected of familial hypercholesterolaemia. Eur J Clin Invest. 2001;31:958-965.
-
(2001)
Eur J Clin Invest
, vol.31
, pp. 958-965
-
-
Descamps, O.S.1
Gilbeau, J.P.2
Leysen, X.3
Van Leuven, F.4
Heller, F.R.5
-
12
-
-
0029882605
-
The extracranial carotid artery in familial hypercholesterolaemia: Relationship of intimal-medial thickness and plaque morphology with plasma lipids and coronary heart disease
-
Sidhu PS, Naoumova RP, Maher VM, MacSweeney JE, Neuwirth CK, Hollyer JS, Thompson GR. The extracranial carotid artery in familial hypercholesterolaemia: relationship of intimal-medial thickness and plaque morphology with plasma lipids and coronary heart disease. J Cardiovasc Risk. 1996;3:61-67.
-
(1996)
J Cardiovasc Risk
, vol.3
, pp. 61-67
-
-
Sidhu, P.S.1
Naoumova, R.P.2
Maher, V.M.3
MacSweeney, J.E.4
Neuwirth, C.K.5
Hollyer, J.S.6
Thompson, G.R.7
-
13
-
-
0032845310
-
Differences in intima-media thickness in the carotid and femoral arteries in familial hypercholesterolemic heterozygotes with and without clinical manifestations of cardiovascular disease
-
Wittekoek ME, de Groot E, Prins MH, Trip MD, Büller HR, Kastelein JJ. Differences in intima-media thickness in the carotid and femoral arteries in familial hypercholesterolemic heterozygotes with and without clinical manifestations of cardiovascular disease. Atherosclerosis. 1999;146: 271-279.
-
(1999)
Atherosclerosis
, vol.146
, pp. 271-279
-
-
Wittekoek, M.E.1
De Groot, E.2
Prins, M.H.3
Trip, M.D.4
Büller, H.R.5
Kastelein, J.J.6
-
14
-
-
0344081920
-
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, Gentile M, Liguori R, Argiriou A, Carlotto A, Faccenda F, Mancini M, Bond MG, De Simone V, Rubba P. 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;52:1433-1438.
-
(2003)
Metabolism
, vol.52
, pp. 1433-1438
-
-
Pauciullo, P.1
Giannino, A.2
De Michele, M.3
Gentile, M.4
Liguori, R.5
Argiriou, A.6
Carlotto, A.7
Faccenda, F.8
Mancini, M.9
Bond, M.G.10
De Simone, V.11
Rubba, P.12
-
15
-
-
0034020289
-
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: 371-377.
-
(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
-
16
-
-
0035941786
-
Effect of aggressive versus conventional lipid lowering on atherosclerosis progression in familial hypercholesterolaemia (ASAP): A prospective, randomised, double-blind trial
-
Smilde TJ, Van Wissen S, Wollersheim H, Trip MD, Kastelein JJ, Stalenhoef AF. Effect of aggressive versus conventional lipid lowering on atherosclerosis progression in familial hypercholesterolaemia (ASAP): a prospective, randomised, double-blind trial. Lancet. 2001;357:577-581.
-
(2001)
Lancet
, vol.357
, pp. 577-581
-
-
Smilde, T.J.1
Van Wissen, S.2
Wollersheim, H.3
Trip, M.D.4
Kastelein, J.J.5
Stalenhoef, A.F.6
-
17
-
-
0035282825
-
Evaluation of coronary risk factors in patients with heterozygous familial hypercholesterolemia
-
Hopkins PN, Stephenson S, Wu LL, Riley WA, Xin Y, Hunt SC. Evaluation of coronary risk factors in patients with heterozygous familial hypercholesterolemia. Am J Cardiol. 2001;87:547-553.
-
(2001)
Am J Cardiol
, vol.87
, pp. 547-553
-
-
Hopkins, P.N.1
Stephenson, S.2
Wu, L.L.3
Riley, W.A.4
Xin, Y.5
Hunt, S.C.6
-
19
-
-
18844477352
-
Lipid profile of the Spanish population: The DRECE (Diet and Risk of Cardiovascular Disease in Spain) study
-
DRECE Study Group
-
Gomez-Gerique JA, Gutierrez-Fuentes JA, Montoya MT, Porres A, Rueda A, Avellaneda A, Rubio MA. Lipid profile of the Spanish population: the DRECE (Diet and Risk of Cardiovascular Disease in Spain) study. DRECE Study Group. Med Clin (Barc). 1999;113:730-735.
-
(1999)
Med Clin (Barc).
, vol.113
, pp. 730-735
-
-
Gomez-Gerique, J.A.1
Gutierrez-Fuentes, J.A.2
Montoya, M.T.3
Porres, A.4
Rueda, A.5
Avellaneda, A.6
Rubio, M.A.7
-
20
-
-
1642296165
-
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
-
21
-
-
23444435523
-
Reliable low-density DNA array based on allele-specific probes for detection of 118 mutations causing familial hypercholesterolemia
-
Tejedor D, Castillo S, Mozas P, Jiménez E, López M, Tejedor MT, Artieda M, Alonso R, Mata P, Simón L, Martínez A, Pocoví M. Reliable low-density DNA array based on allele-specific probes for detection of 118 mutations causing familial hypercholesterolemia. Clin Chem. 2005; 51:1137-1144.
-
(2005)
Clin Chem
, vol.51
, pp. 1137-1144
-
-
Tejedor, D.1
Castillo, S.2
Mozas, P.3
Jiménez, E.4
López, M.5
Tejedor, M.T.6
Artieda, M.7
Alonso, R.8
Mata, P.9
Simón, L.10
Martínez, A.11
Pocoví, M.12
-
22
-
-
0028358075
-
Detection and quantitation of calcific atherosclerosis by ultrafast computed tomography in children and young adults with homozygous familial hypercholesterolemia
-
Hoeg JM, Feuerstein IM, Tucker EE. Detection and quantitation of calcific atherosclerosis by ultrafast computed tomography in children and young adults with homozygous familial hypercholesterolemia. Arterioscler Thromb. 1994;14:1066-1074.
-
(1994)
Arterioscler Thromb
, vol.14
, pp. 1066-1074
-
-
Hoeg, J.M.1
Feuerstein, I.M.2
Tucker, E.E.3
-
23
-
-
0025801744
-
Apolipoprotein e genotyping by one-stage PCR
-
Wenham PR, Price WH, Blandell G. Apolipoprotein E genotyping by one-stage PCR. Lancet. 1991;337:1158-1159.
-
(1991)
Lancet
, vol.337
, pp. 1158-1159
-
-
Wenham, P.R.1
Price, W.H.2
Blandell, G.3
-
24
-
-
0020405313
-
Multiple risk functions for predicting coronary heart disease. The concept, accuracy, and application
-
Gordon T, Kannel WB. Multiple risk functions for predicting coronary heart disease. The concept, accuracy, and application. Am Heart J. 1982; 103:1031-1039.
-
(1982)
Am Heart J
, vol.103
, pp. 1031-1039
-
-
Gordon, T.1
Kannel, W.B.2
-
25
-
-
10344252285
-
Established and emerging coronary risk factors in patients with heterozygous familial hypercholesterolemia
-
Neil HAW, Seagroatt V, Betteridge DJ, Cooper MB, Durrington PN, Miller JP, Seed M, Naoumova RP, Thompson GR, Huxley R, Humphries SE. Established and emerging coronary risk factors in patients with heterozygous familial hypercholesterolemia. Heart. 2004;90:1431-1437.
-
(2004)
Heart
, vol.90
, pp. 1431-1437
-
-
Neil, H.A.W.1
Seagroatt, V.2
Betteridge, D.J.3
Cooper, M.B.4
Durrington, P.N.5
Miller, J.P.6
Seed, M.7
Naoumova, R.P.8
Thompson, G.R.9
Huxley, R.10
Humphries, S.E.11
-
27
-
-
0033669323
-
Effect of blood pressure and physical activity on carotid artery intima-media thickness in stage 1 hypertensives and controls
-
Casiglia E, Palatini P, Da Ros S, Pagliara V, Puato M, Dorigatti F, Pauletto P. Effect of blood pressure and physical activity on carotid artery intima-media thickness in stage 1 hypertensives and controls. Am J Hypertens. 2000;13:1256-1262.
-
(2000)
Am J Hypertens
, vol.13
, pp. 1256-1262
-
-
Casiglia, E.1
Palatini, P.2
Da Ros, S.3
Pagliara, V.4
Puato, M.5
Dorigatti, F.6
Pauletto, P.7
-
28
-
-
0036100782
-
Is carotid artery intima-media thickening a reliable marker of early atherosclerosis?
-
Mayet J, Stanton AV, Chapman N, Foale RA, Hughes AD, Thom SA. Is carotid artery intima-media thickening a reliable marker of early atherosclerosis? J Cardiovasc Risk. 2002;9:77-81.
-
(2002)
J Cardiovasc Risk
, vol.9
, pp. 77-81
-
-
Mayet, J.1
Stanton, A.V.2
Chapman, N.3
Foale, R.A.4
Hughes, A.D.5
Thom, S.A.6
-
29
-
-
0034931412
-
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-Usó I, García-García 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; 22:465-471.
-
(2001)
Eur Heart J
, vol.22
, pp. 465-471
-
-
Real, J.T.1
Chaves, F.J.2
Martinez-Usó, I.3
García-García, A.B.4
Ascaso, J.F.5
Carmena, R.6
-
30
-
-
0030665788
-
Carotid atherosclerosis in men with low levels of HDL cholesterol
-
Wilt TJ, Rubins HB, Robins SJ, Riley WA, Collins D, Elam M, Rutan G, Anderson JW. Carotid atherosclerosis in men with low levels of HDL cholesterol. Stroke. 1997;28:1919-1925.
-
(1997)
Stroke
, vol.28
, pp. 1919-1925
-
-
Wilt, T.J.1
Rubins, H.B.2
Robins, S.J.3
Riley, W.A.4
Collins, D.5
Elam, M.6
Rutan, G.7
Anderson, J.W.8
-
31
-
-
10044281651
-
Arterial Biology for the Investigation of the Treatment Effects of Reducing Cholesterol (ARBITER) 2: A double-blind, placebo-controlled study of extended-release niacin on atherosclerosis progression in secondary prevention patients treated with statins
-
Taylor AJ, Sullenberger LE, Lee HJ, Lee JK, Grace KA. Arterial Biology for the Investigation of the Treatment Effects of Reducing Cholesterol (ARBITER) 2: a double-blind, placebo-controlled study of extended-release niacin on atherosclerosis progression in secondary prevention patients treated with statins. Circulation. 2004;110:3512-3517.
-
(2004)
Circulation
, vol.110
, pp. 3512-3517
-
-
Taylor, A.J.1
Sullenberger, L.E.2
Lee, H.J.3
Lee, J.K.4
Grace, K.A.5
-
32
-
-
2942750054
-
HDL cholesterol and protective factors in atherosclerosis
-
Assmann G, Gotto AM. HDL cholesterol and protective factors in atherosclerosis. Circulation. 2004;109(suppl III):III-8-III-14.
-
(2004)
Circulation
, vol.109
, Issue.3 SUPPL.
-
-
Assmann, G.1
Gotto, A.M.2
-
33
-
-
29944440890
-
Carotid ultrasound in the assessment of preclinical atherosclerosis. Distribution of intima-media thickness values and plaque frequency in a Spanish community cohort
-
Junyent M, Gilabert R, Núñez I, Corbella E, Vela M, Zambón D, Ros E. Carotid ultrasound in the assessment of preclinical atherosclerosis. Distribution of intima-media thickness values and plaque frequency in a Spanish community cohort. Med Clin (Barc). 2005;125:170-174.
-
(2005)
Med Clin (Barc)
, vol.125
, pp. 170-174
-
-
Junyent, M.1
Gilabert, R.2
Núñez, I.3
Corbella, E.4
Vela, M.5
Zambón, D.6
Ros, E.7
-
34
-
-
1842767407
-
Relationship between cholesteryl ester transfer protein levels and risk factor profile in patients with familial hypercholesterolemia
-
de Grooth GJ, Smilde TJ, Van Wissen S, Klerkx AH, Zwinderman AH, Fruchart JC, et al. Relationship between cholesteryl ester transfer protein levels and risk factor profile in patients with familial hypercholesterolemia. Atherosclerosis. 2004;173:261-267.
-
(2004)
Atherosclerosis
, vol.173
, pp. 261-267
-
-
De Grooth, G.J.1
Smilde, T.J.2
Van Wissen, S.3
Klerkx, A.H.4
Zwinderman, A.H.5
Fruchart, J.C.6
-
35
-
-
0043169544
-
Long term statin treatment reduces lipoprotein(a) concentrations in heterozygous familial hypercholesterolaemia
-
van Wissen S, Smilde TJ, Trip MD, de Boo T, Kastelein JJP, Stalenhoef AFH. Long term statin treatment reduces lipoprotein(a) concentrations in heterozygous familial hypercholesterolaemia. Heart. 2003;89:893-896.
-
(2003)
Heart
, vol.89
, pp. 893-896
-
-
Van Wissen, S.1
Smilde, T.J.2
Trip, M.D.3
De Boo, T.4
Kastelein, J.J.P.5
Stalenhoef, A.F.H.6
|