-
1
-
-
0000710395
-
Familial hypercholesterolemia
-
Scriver CR, Beaudet AL, Sly WS, Valle D, eds. Toronto, Ontario, Canada: McGraw-Hill Publishing Co
-
Goldstein JL, Brown MS. Familial hypercholesterolemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic Basis of Inherited Disease. 7th edition. Toronto, Ontario, Canada: McGraw-Hill Publishing Co; 1995:1981-2030.
-
(1995)
The Metabolic Basis of Inherited Disease. 7th edition
, pp. 1981-2030
-
-
Goldstein, J.L.1
Brown, M.S.2
-
2
-
-
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, Grundy SM. 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
Grundy, S.M.7
-
3
-
-
0024558892
-
Association between a specific apolipoprotein B mutation and familial defective apoB-100
-
Soria LF, Ludwig EH, Clarke HRG, Vega GL, Grundy SM, McCarthy BJ. Association between a specific apolipoprotein B mutation and familial defective apoB-100. Proc Natl Acad Sci U S A. 1989;86:587-591.
-
(1989)
Proc Natl Acad Sci U S A
, vol.86
, pp. 587-591
-
-
Soria, L.F.1
Ludwig, E.H.2
Clarke, H.R.G.3
Vega, G.L.4
Grundy, S.M.5
McCarthy, B.J.6
-
4
-
-
0011723317
-
Familial ligand defective apolipoprotein B: Identification of a new mutation that decreases LDL-receptor binding affinity
-
Abstract
-
Pullinger CR, Hennessy LK, Chatterton JE, Lui W, Love JA, Mendel CM, Frost PH, Malloy MJ, Schumaker VN, Kane JP. Familial ligand defective apolipoprotein B: identification of a new mutation that decreases LDL-receptor binding affinity. Circulation. 1993;88:322. Abstract.
-
(1993)
Circulation
, vol.88
, pp. 322
-
-
Pullinger, C.R.1
Hennessy, L.K.2
Chatterton, J.E.3
Lui, W.4
Love, J.A.5
Mendel, C.M.6
Frost, P.H.7
Malloy, M.J.8
Schumaker, V.N.9
Kane, J.P.10
-
5
-
-
0028898785
-
Mutation screening of codon 3500 region of the apolipoprotein B gene by denaturing gradient-gel electrophoresis
-
Nissen H, Hansen PS, Faergeman OS, Hørder M. Mutation screening of codon 3500 region of the apolipoprotein B gene by denaturing gradient-gel electrophoresis. Clin Chem. 1995;41:419-423.
-
(1995)
Clin Chem
, vol.41
, pp. 419-423
-
-
Nissen, H.1
Hansen, P.S.2
Faergeman, O.S.3
Hørder, M.4
-
6
-
-
0025102741
-
Familial defective apolipoprotein B-100: A mutation of apolipoprotein B that causes hypercholesterolemia
-
Innerarity TL, Mahley RW, Weisgraber KH, Bersot TP, Krauss RM, Vega GL, Grundy SM, Friedl W, Davignon J, McCarthy BJ. Familial defective apolipoprotein B-100: a mutation of apolipoprotein B that causes hypercholesterolemia. J Lipid Res. 1990;31:1337-1350.
-
(1990)
J Lipid Res
, vol.31
, pp. 1337-1350
-
-
Innerarity, T.L.1
Mahley, R.W.2
Weisgraber, K.H.3
Bersot, T.P.4
Krauss, R.M.5
Vega, G.L.6
Grundy, S.M.7
Friedl, W.8
Davignon, J.9
McCarthy, B.J.10
-
7
-
-
0025186562
-
Familial defective apolipoprotein B-100: Detection in the United Kingdom and Scandinavia and clinical characteristics of ten cases
-
Tybjaerg-Hansen A, Gallagher J, Vincent J, Houlston R, Talmud P, Dunning AM, Seed M, Hamsten A, Humphries SE, Myant NB. Familial defective apolipoprotein B-100: detection in the United Kingdom and Scandinavia and clinical characteristics of ten cases. Atherosclerosis. 1990;80:235-242.
-
(1990)
Atherosclerosis
, vol.80
, pp. 235-242
-
-
Tybjaerg-Hansen, A.1
Gallagher, J.2
Vincent, J.3
Houlston, R.4
Talmud, P.5
Dunning, A.M.6
Seed, M.7
Hamsten, A.8
Humphries, S.E.9
Myant, N.B.10
-
8
-
-
0029094386
-
Differences in phenotypic characteristics of subjects with familial defective apolipoprotein B-100 and familial hypercholesterolemia
-
Miserez AR, Keller U. Differences in phenotypic characteristics of subjects with familial defective apolipoprotein B-100 and familial hypercholesterolemia. Arterioscler Thromb Vasc Biol. 1995;15:1719-1729.
-
(1995)
Arterioscler Thromb Vasc Biol
, vol.15
, pp. 1719-1729
-
-
Miserez, A.R.1
Keller, U.2
-
9
-
-
0022981186
-
In vivo evidence for reduced binding of low density lipoproteins to receptors as a cause of primary moderate hypercholesterolemia
-
Vega GL, Grundy SM. In vivo evidence for reduced binding of low density lipoproteins to receptors as a cause of primary moderate hypercholesterolemia. J Clin Invest. 1986;86:1410-1414.
-
(1986)
J Clin Invest
, vol.86
, pp. 1410-1414
-
-
Vega, G.L.1
Grundy, S.M.2
-
10
-
-
0027331369
-
Accumulation of "small dense" low density lipoprotein (LDL) in a homozygous patient with familial defective apolipoprotein B-100 results from heterogeneous interaction of LDL subfractions with the LDL receptor
-
März W, Baumstark MW, Scharnagl H, Ruzicka V, Buxbaum S, Herwig J, Pohl T, Russ A, Schaaf L, Berg A, Böhles H-J, Usadel KH, Groß W. Accumulation of "small dense" low density lipoprotein (LDL) in a homozygous patient with familial defective apolipoprotein B-100 results from heterogeneous interaction of LDL subfractions with the LDL receptor. J Clin Invest. 1993;92:2922-2933.
-
(1993)
J Clin Invest
, vol.92
, pp. 2922-2933
-
-
März, W.1
Baumstark, M.W.2
Scharnagl, H.3
Ruzicka, V.4
Buxbaum, S.5
Herwig, J.6
Pohl, T.7
Russ, A.8
Schaaf, L.9
Berg, A.10
Böhles, H.-J.11
Usadel, K.H.12
Groß, W.13
-
11
-
-
0026723469
-
Familial defective apolipoprotein B-100: Clinical characteristics of 54 cases
-
Raugh G, Keller C, Korman B, Spengel H, Schuster H, Wolfram G, Zöllner N. Familial defective apolipoprotein B-100: clinical characteristics of 54 cases. Atherosclerosis. 1992;92:233-241.
-
(1992)
Atherosclerosis
, vol.92
, pp. 233-241
-
-
Raugh, G.1
Keller, C.2
Korman, B.3
Spengel, H.4
Schuster, H.5
Wolfram, G.6
Zöllner, N.7
-
12
-
-
0026779207
-
Familial defective apolipoprotein B-100: A single mutation that causes hypercholesterolemia and premature coronary artery disease
-
Tybjaerg-Hansen A, Humphries SE. Familial defective apolipoprotein B-100: a single mutation that causes hypercholesterolemia and premature coronary artery disease. Atherosclerosis. 1992;96:91-107.
-
(1992)
Atherosclerosis
, vol.96
, pp. 91-107
-
-
Tybjaerg-Hansen, A.1
Humphries, S.E.2
-
13
-
-
0027437258
-
Familial defective apolipoprotein B-100 is clinically indistinguishable from familial hypercholesterolemia
-
Defesche JC, Pricker KL, Hayden MR, Van der Ende B, Kastelein JJP. Familial defective apolipoprotein B-100 is clinically indistinguishable from familial hypercholesterolemia. Arch Intern Med. 1993;153:2349-2356.
-
(1993)
Arch Intern Med
, vol.153
, pp. 2349-2356
-
-
Defesche, J.C.1
Pricker, K.L.2
Hayden, M.R.3
Van Der Ende, B.4
Kastelein, J.J.P.5
-
14
-
-
33746195805
-
Enzymatische Bestimming der Gesammtcholesterins in serum
-
Rochlau P, Bernt E, Gruber W. Enzymatische Bestimming der Gesammtcholesterins in serum. J Clin Biochem. 1974;12:403-407.
-
(1974)
J Clin Biochem
, vol.12
, pp. 403-407
-
-
Rochlau, P.1
Bernt, E.2
Gruber, W.3
-
16
-
-
0017350190
-
Cholesterol determination in high density lipoproteins separated by three different methods
-
Lopes-Virella MF, Stone J, Ellis S, Goldwell JA. Cholesterol determination in high density lipoproteins separated by three different methods. Clin Chem. 1975;23:882-884.
-
(1975)
Clin Chem
, vol.23
, pp. 882-884
-
-
Lopes-Virella, M.F.1
Stone, J.2
Ellis, S.3
Goldwell, J.A.4
-
17
-
-
0015348189
-
Estimation of the concentration of low-density lipoprotein cholesterol in plasma, without the use of the preparative ultracentrifuge
-
Friedewald WT, Levy RI, Frederickson DS. Estimation of the concentration of low-density lipoprotein cholesterol in plasma, without the 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
Frederickson, D.S.3
-
18
-
-
0025934902
-
International federation of clinical chemistry standardization project for measurement of apolipoproteins A-1 and B
-
Marcovina S, Albers JJ, Kennedy H, Mei JV, Henderson LO, Hannon WH. International federation of clinical chemistry standardization project for measurement of apolipoproteins A-1 and B. Clin Chem. 1991;37:1676-1682.
-
(1991)
Clin Chem
, vol.37
, pp. 1676-1682
-
-
Marcovina, S.1
Albers, J.J.2
Kennedy, H.3
Mei, J.V.4
Henderson, L.O.5
Hannon, W.H.6
-
19
-
-
0025035692
-
Genetic linkage of hereditary motor and sensory neuropathy type I (Charcot-Marie-Tooth disease) to markers of chromosomes 1 and 17
-
Defesche JC, Hoogendijk JE, de Visser M, de Visser O, Bolhuis PA. Genetic linkage of hereditary motor and sensory neuropathy type I (Charcot-Marie-Tooth disease) to markers of chromosomes 1 and 17. Neurology. 1990;40:1450-1453.
-
(1990)
Neurology
, vol.40
, pp. 1450-1453
-
-
Defesche, J.C.1
Hoogendijk, J.E.2
De Visser, M.3
De Visser, O.4
Bolhuis, P.A.5
-
21
-
-
0027026881
-
Molecular genetics of the LDL receptor gene in familial hypercholesterolemia
-
Hobbs HH, Brown MS, Goldstein JL. Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. Hum Mutat. 1992;1:445-446.
-
(1992)
Hum Mutat
, vol.1
, pp. 445-446
-
-
Hobbs, H.H.1
Brown, M.S.2
Goldstein, J.L.3
-
23
-
-
0028901081
-
Identification of mutations in the LDL-receptor by denaturing gradient gel electrophoresis
-
Lombardi P, Sijbrands E, Van de Giessen K, Smelt A, Kastelein JJP. Identification of mutations in the LDL-receptor by denaturing gradient gel electrophoresis. J Lipid Res. 1995;36:860-867.
-
(1995)
J Lipid Res
, vol.36
, pp. 860-867
-
-
Lombardi, P.1
Sijbrands, E.2
Van De Giessen, K.3
Smelt, A.4
Kastelein, J.J.P.5
-
24
-
-
0000492166
-
Homozygosity for familial defective apolipoprotein B-100 (FDB) is associated with lower plasma cholesterol concentrations than homozygosity for familial hypercholesterolemia (FH)
-
Abstract
-
Funke H, Rust S, Seedorf U, Brennhausen B, Chirazi A, Motti C, Assmann G. Homozygosity for familial defective apolipoprotein B-100 (FDB) is associated with lower plasma cholesterol concentrations than homozygosity for familial hypercholesterolemia (FH). Circulation. 1992;86(suppl I):I-691. Abstract.
-
(1992)
Circulation
, vol.86
, Issue.1 SUPPL.
-
-
Funke, H.1
Rust, S.2
Seedorf, U.3
Brennhausen, B.4
Chirazi, A.5
Motti, C.6
Assmann, G.7
-
25
-
-
0026091744
-
A prospective study of cholesterol, apolipoproteins, and the risk of myocardial infarction
-
Stampfer MJ, Sacks FM, Salvini S, Willet WC, Hennekens CH. A prospective study of cholesterol, apolipoproteins, and the risk of myocardial infarction. N Engl J Med. 1991;325:373-381.
-
(1991)
N Engl J Med
, vol.325
, pp. 373-381
-
-
Stampfer, M.J.1
Sacks, F.M.2
Salvini, S.3
Willet, W.C.4
Hennekens, C.H.5
-
26
-
-
0029146594
-
Familial hypercholesterolemia: Molecular, biochemical, and clinical characterization of a French-Canadian pediatric population
-
Assouline L, Levy E, Feoli-Fonseca JC, Godbout C, Lambert M. Familial hypercholesterolemia: molecular, biochemical, and clinical characterization of a French-Canadian pediatric population. Pediatrics. 1995;96:239-246.
-
(1995)
Pediatrics
, vol.96
, pp. 239-246
-
-
Assouline, L.1
Levy, E.2
Feoli-Fonseca, J.C.3
Godbout, C.4
Lambert, M.5
-
27
-
-
0028181697
-
Characteristics of 46 heterozygous carriers and 57 unaffected relatives in five Danish families with familial defective apolipoprotein B-100
-
Hansen PS, Meinertz H, Jensen HK, Fruergaard P, Launbjerg J, Klausen IC, Lemming L, Gerdes U, Gregerson N, Faergeman O. Characteristics of 46 heterozygous carriers and 57 unaffected relatives in five Danish families with familial defective apolipoprotein B-100. Arterioscler Thromb. 1994;14:207-213.
-
(1994)
Arterioscler Thromb
, vol.14
, pp. 207-213
-
-
Hansen, P.S.1
Meinertz, H.2
Jensen, H.K.3
Fruergaard, P.4
Launbjerg, J.5
Klausen, I.C.6
Lemming, L.7
Gerdes, U.8
Gregerson, N.9
Faergeman, O.10
-
28
-
-
0026031715
-
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;11:290-297.
-
(1991)
Arterioscler Thromb
, vol.11
, pp. 290-297
-
-
Hill, J.S.1
Hayden, M.R.2
Frohlich, J.3
Pritchard, P.H.4
-
29
-
-
0029142927
-
Determinants of lipid levels among children with heterozygous familial hypercholesterolemia in Norway
-
Tonstad S, Leren TP, Siverton M, Ose L. Determinants of lipid levels among children with heterozygous familial hypercholesterolemia in Norway. Arterioscler Thromb Vasc Biol. 1995;15:1009-1014.
-
(1995)
Arterioscler Thromb Vasc Biol
, vol.15
, pp. 1009-1014
-
-
Tonstad, S.1
Leren, T.P.2
Siverton, M.3
Ose, L.4
-
30
-
-
0022412670
-
Cholesterol, high density lipoprotein cholesterol and triglycerides during puberty: The Oslo Youth Study
-
Tell GS, Mittelmark MB, Vellar OD. Cholesterol, high density lipoprotein cholesterol and triglycerides during puberty: the Oslo Youth Study. Am J Epidemiol. 1985;122:750-761.
-
(1985)
Am J Epidemiol
, vol.122
, pp. 750-761
-
-
Tell, G.S.1
Mittelmark, M.B.2
Vellar, O.D.3
-
31
-
-
0027230692
-
Characterization of six patients who are double heterozygotes for familial hypercholesterolemia and familial defective apoB-100
-
Rubinsztein DC, Raal FJ, Seftel HC, Pilcher G, Coetzee GA, van der Westhuyzen DR. Characterization of six patients who are double heterozygotes for familial hypercholesterolemia and familial defective apoB-100. Arterioscler Thromb. 1993;13:1076-1081.
-
(1993)
Arterioscler Thromb
, vol.13
, pp. 1076-1081
-
-
Rubinsztein, D.C.1
Raal, F.J.2
Seftel, H.C.3
Pilcher, G.4
Coetzee, G.A.5
Van Der Westhuyzen, D.R.6
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