-
2
-
-
43049161243
-
Familial hypercholesterolemia: Current treatment and advances in management
-
Huijgen R, Vissers MN, Defesche JC, Lansberg PJ, Kastelein JJ, Hutten BA. Familial hypercholesterolemia: current treatment and advances in management. Expert Rev Cardiovasc Ther. 2008;6:567-581.
-
(2008)
Expert Rev Cardiovasc Ther
, vol.6
, pp. 567-581
-
-
Huijgen, R.1
Vissers, M.N.2
Defesche, J.C.3
Lansberg, P.J.4
Kastelein, J.J.5
Hutten, B.A.6
-
3
-
-
79959332777
-
Efficacy of statins in familial hypercholesterolaemia: A long term cohort study
-
Versmissen J, Oosterveer DM, Yazdanpanah M, Defesche JC, Basart DC, Liem AH, et al. Efficacy of statins in familial hypercholesterolaemia: A long term cohort study. BMJ. 2008;337:a2423.
-
(2008)
BMJ
, vol.337
-
-
Versmissen, J.1
Oosterveer, D.M.2
Yazdanpanah, M.3
Defesche, J.C.4
Basart, D.C.5
Liem, A.H.6
-
4
-
-
30544449958
-
The practice guideline' Diagnosis and treatment of familial hypercholesterolaemia' of the Dutch Health Care Insurance Board
-
Walma EP, Visseren FL, Jukema JW, Kastelein JJ, Hoes AW, Stalenhoef AF. The practice guideline' Diagnosis and treatment of familial hypercholesterolaemia' of the Dutch Health Care Insurance Board. Ned Tijdschr Geneeskd. 2006;150:18-23.
-
(2006)
Ned Tijdschr Geneeskd
, vol.150
, pp. 18-23
-
-
Walma, E.P.1
Visseren, F.L.2
Jukema, J.W.3
Kastelein, J.J.4
Hoes, A.W.5
Stalenhoef, A.F.6
-
5
-
-
51249096285
-
Familial hypercholesterolaemia: Summary of NICE guidance
-
Wierzbicki AS, Humphries SE, Minhas R. Familial hypercholesterolaemia: summary of NICE guidance. BMJ. 2008;337:a1095.
-
(2008)
BMJ
, vol.337
-
-
Wierzbicki, A.S.1
Humphries, S.E.2
Minhas, R.3
-
6
-
-
0002114596
-
Familial hypercholesterolemia
-
Betteridge DJ, ed. London: Martin Dunitz Ltd
-
Defesche JC. Familial Hypercholesterolemia. In: Betteridge DJ, ed. Lipids and Vascular Disease. London: Martin Dunitz Ltd; 2000. p. 65-76.
-
(2000)
Lipids and Vascular Disease
, pp. 65-76
-
-
Defesche, J.C.1
-
7
-
-
0035915685
-
Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands
-
Umans-Eckenhausen MA, Defesche JC, Sijbrands EJ, Scheerder RL, Kastelein JJ. Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands. Lancet. 2001;357:165-168.
-
(2001)
Lancet
, vol.357
, pp. 165-168
-
-
Umans-Eckenhausen, M.A.1
Defesche, J.C.2
Sijbrands, E.J.3
Scheerder, R.L.4
Kastelein, J.J.5
-
8
-
-
34748870952
-
Child-parent screening for familial hypercholesterolaemia: Screening strategy based on a meta-analysis
-
Wald DS, Bestwick JP, Wald NJ. Child-parent screening for familial hypercholesterolaemia: screening strategy based on a meta-analysis. BMJ. 2007;335:599.
-
(2007)
BMJ
, vol.335
, pp. 599
-
-
Wald, D.S.1
Bestwick, J.P.2
Wald, N.J.3
-
9
-
-
44949145140
-
Development of sensitive and specific age- and gender-specific low-density lipoprotein cholesterol cutoffs for diagnosis of first-degree relatives with familial hypercholesterolaemia in cascade testing
-
Starr B, Hadfield SG, Hutten BA, Lansberg PJ, Leren TP, Damgaard D, et al. Development of sensitive and specific age- and gender-specific low-density lipoprotein cholesterol cutoffs for diagnosis of first-degree relatives with familial hypercholesterolaemia in cascade testing. Clin Chem Lab Med. 2008;46:791-803.
-
(2008)
Clin Chem Lab Med
, vol.46
, pp. 791-803
-
-
Starr, B.1
Hadfield, S.G.2
Hutten, B.A.3
Lansberg, P.J.4
Leren, T.P.5
Damgaard, D.6
-
10
-
-
77950174523
-
Two years after molecular diagnosis of familial hypercholesterolemia: Majority on cholesterol-lowering treatment but a minority reaches treatment goal
-
Huijgen R, Kindt I, Verhoeven SB, Sijbrands EJ, Vissers MN, Kastelein JJ, et al. Two years after molecular diagnosis of familial hypercholesterolemia: majority on cholesterol-lowering treatment but a minority reaches treatment goal. PLoS ONE. 2010;5:e9220.
-
(2010)
PLoS ONE
, vol.5
-
-
Huijgen, R.1
Kindt, I.2
Verhoeven, S.B.3
Sijbrands, E.J.4
Vissers, M.N.5
Kastelein, J.J.6
-
11
-
-
25144463193
-
Cutoff point separating affected and unaffected familial hypercholesterolemic patients validated by LDL-receptor gene mutants
-
Mabuchi H, Higashikata T, Nohara A, Lu H, Yu WX, Nozue T, et al. Cutoff point separating affected and unaffected familial hypercholesterolemic patients validated by LDL-receptor gene mutants. J Atheroscler Thromb. 2005;12:35-40.
-
(2005)
J Atheroscler Thromb
, vol.12
, pp. 35-40
-
-
Mabuchi, H.1
Higashikata, T.2
Nohara, A.3
Lu, H.4
Yu, W.X.5
Nozue, T.6
-
12
-
-
77952684113
-
Functionality of sequence variants in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in individuals with inherited hypercholesterolemia
-
Huijgen R, Kindt I, Fouchier SW, Defesche JC, Hutten BA, Kastelein JJ, et al. Functionality of sequence variants in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in individuals with inherited hypercholesterolemia. Hum Mutat. 2010;31:752-760.
-
(2010)
Hum Mutat
, vol.31
, pp. 752-760
-
-
Huijgen, R.1
Kindt, I.2
Fouchier, S.W.3
Defesche, J.C.4
Hutten, B.A.5
Kastelein, J.J.6
-
13
-
-
84864602990
-
Cardiovascular risk in relation to functionality of sequence variants in the gene coding for the low-density lipoprotein receptor: A study among 29365 individuals tested for 64 specific low-density lipoprotein-receptor sequence variants
-
Epub ahead of print March 4. doi: 10.1093/ eurheart/ehs038
-
Huijgen R, Kindt I, Defesche JC, Kastelein JJ. Cardiovascular risk in relation to functionality of sequence variants in the gene coding for the low-density lipoprotein receptor: a study among 29365 individuals tested for 64 specific low-density lipoprotein-receptor sequence variants. Eur Heart J. Epub ahead of print March 4, 2012. doi: 10.1093/ eurheart/ehs038.
-
(2012)
Eur Heart J.
-
-
Huijgen, R.1
Kindt, I.2
Defesche, J.C.3
Kastelein, J.J.4
-
14
-
-
0011723065
-
Familial defective apolipoprotein B-100: Low density lipoproteins with abnormal receptor binding
-
Innerarity TL, Weisgraber KH, Arnold KS, Mahley RW, Krauss RM, Vega GL, et al. Familial defective apolipoprotein B-100: low density lipoproteins with abnormal receptor binding. Proc Natl Acad Sci U S A. 1987;84:6919-6923.
-
(1987)
Proc Natl Acad Sci U S A
, vol.84
, pp. 6919-6923
-
-
Innerarity, T.L.1
Weisgraber, K.H.2
Arnold, K.S.3
Mahley, R.W.4
Krauss, R.M.5
Vega, G.L.6
-
15
-
-
0028179710
-
Evaluation of the Cholestech L.D.X. desktop analyser for cholesterol, HDL-cholesterol, and triacylglycerols in heparinized venous blood
-
Cobbaert C, Boerma GJ, Lindemans J. Evaluation of the Cholestech L.D.X. desktop analyser for cholesterol, HDL-cholesterol, and triacylglycerols in heparinized venous blood. Eur J Clin Chem Clin Biochem. 1994;32:391-394.
-
(1994)
Eur J Clin Chem Clin Biochem
, vol.32
, pp. 391-394
-
-
Cobbaert, C.1
Boerma, G.J.2
Lindemans, J.3
-
16
-
-
0015348189
-
Estimation of the concentration of low-density lipoprotein cholesterol in plasma, without use of the preparative ultracentrifuge
-
Friedewald WT, Levy RI, Fredrickson DS. Estimation of the concentration of low-density lipoprotein cholesterol in plasma, without use of the preparative ultracentrifuge. Clin Chem. 1972;18:499-502.
-
(1972)
Clin Chem
, vol.18
, pp. 499-502
-
-
Friedewald, W.T.1
Levy, R.I.2
Fredrickson, D.S.3
-
18
-
-
0033996671
-
Molecular genetic testing for familial hypercholesterolemia: Spectrum of LDL receptor gene mutations in the Netherlands
-
Lombardi MP, Redeker EJ, Defesche JC, Kamerling SW, Trip MD, Mannens MM, et al. Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in The Netherlands. Clin Genet. 2000;57:116-124.
-
(2000)
Clin Genet
, vol.57
, pp. 116-124
-
-
Lombardi, M.P.1
Redeker, E.J.2
Defesche, J.C.3
Kamerling, S.W.4
Trip, M.D.5
Mannens, M.M.6
-
19
-
-
0033987736
-
Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
-
den Dunnen JT, Antonarakis SE. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat. 2000;15:7-12.
-
(2000)
Hum Mutat
, vol.15
, pp. 7-12
-
-
Den Dunnen, J.T.1
Antonarakis, S.E.2
-
20
-
-
0028339835
-
Diagnostic tests 3: Receiver operating characteristic plots
-
Altman DG, Bland JM. Diagnostic tests 3: receiver operating characteristic plots. BMJ. 1994;309:188.
-
(1994)
BMJ
, vol.309
, pp. 188
-
-
Altman, D.G.1
Bland, J.M.2
-
21
-
-
28844468394
-
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: 550-556.
-
(2005)
Hum Mutat
, vol.26
, pp. 550-556
-
-
Fouchier, S.W.1
Kastelein, J.J.2
Defesche, J.C.3
-
22
-
-
0037058849
-
Lowdensity lipoprotein receptor gene mutations and cardiovascular risk in a large genetic cascade screening population
-
Umans-Eckenhausen MA, Sijbrands EJ, Kastelein JJ, Defesche JC. Lowdensity 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.1
Sijbrands, E.J.2
Kastelein, J.J.3
Defesche, J.C.4
-
23
-
-
0024446716
-
Two common low density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners
-
Leitersdorf E, Van der Westhuyzen DR, Coetzee GA, Hobbs HH. Two common low density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners. J Clin Invest. 1989;84:954-961.
-
(1989)
J Clin Invest
, vol.84
, pp. 954-961
-
-
Leitersdorf, E.1
Van Der Westhuyzen, D.R.2
Coetzee, G.A.3
Hobbs, H.H.4
-
24
-
-
0031472271
-
Familial hypercholesterolemia in the Finnish north Karelia. A molecular, clinical, and genealogical study
-
Vuorio AF, Turtola H, Piilahti KM, Repo P, Kanninen T, Kontula K. Familial hypercholesterolemia in the Finnish north Karelia. A molecular, clinical, and genealogical study. Arterioscler Thromb Vasc Biol. 1997; 17:3127-3138.
-
(1997)
Arterioscler Thromb Vasc Biol
, vol.17
, pp. 3127-3138
-
-
Vuorio, A.F.1
Turtola, H.2
Piilahti, K.M.3
Repo, P.4
Kanninen, T.5
Kontula, K.6
-
25
-
-
80052734868
-
Assessment of carotid atherosclerosis in normocholesterolemic individuals with proven mutations in the low-density lipoprotein receptor or apolipoprotein B genes
-
Huijgen R, Vissers MN, Kindt I, Trip MD, de Groot E, Kastelein JJ, et al. Assessment of carotid atherosclerosis in normocholesterolemic individuals with proven mutations in the low-density lipoprotein receptor or apolipoprotein B genes. Circ Cardiovasc Genet. 2011;4: 413-417.
-
(2011)
Circ Cardiovasc Genet
, vol.4
, pp. 413-417
-
-
Huijgen, R.1
Vissers, M.N.2
Kindt, I.3
Trip, M.D.4
De Groot, E.5
Kastelein, J.J.6
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