-
1
-
-
0000710395
-
Familial hypercholesterolemia
-
Scriver CR, Beaudet AL, Sly WS and Valle D. (eds). McGraw-Hill, New York
-
Goldstein JL, Hobbs HH, Brown MS. Familial hypercholesterolemia. In: Scriver CR, Beaudet AL, Sly WS and Valle D. (eds). The Metabolic Basis of Inherited Disease, 7th Edition. McGraw-Hill, New York, 1995;1981.
-
(1995)
The Metabolic Basis of Inherited Disease, 7th Edition
, pp. 1981
-
-
Goldstein, J.L.1
Hobbs, H.H.2
Brown, M.S.3
-
2
-
-
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.
-
(1992)
Hum Mutat
, vol.1
, pp. 445
-
-
Hobbs, H.H.1
Brown, M.S.2
Goldstein, J.L.3
-
3
-
-
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.
-
(1990)
J Lipid Res
, vol.31
, pp. 1337
-
-
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
-
4
-
-
0025266556
-
Common low-density lipoprotein receptor mutations in the French Canadian Population
-
Leitersdorf E, Tobin EJ, Davignon J, Hobbs HH. Common low-density lipoprotein receptor mutations in the French Canadian Population. J Clin Invest 1990;85:1014.
-
(1990)
J Clin Invest
, vol.85
, pp. 1014
-
-
Leitersdorf, E.1
Tobin, E.J.2
Davignon, J.3
Hobbs, H.H.4
-
5
-
-
0023140956
-
The Lebanese allele at the low density lipoprotein receptor locus
-
Lehrman MA, Schneider WJ, Brown MS, Davis CG, Elhammer A, Russell DW, Goldstein JL. The Lebanese allele at the low density lipoprotein receptor locus. J Biol Chem 1987;262:410.
-
(1987)
J Biol Chem
, vol.262
, pp. 410
-
-
Lehrman, M.A.1
Schneider, W.J.2
Brown, M.S.3
Davis, C.G.4
Elhammer, A.5
Russell, D.W.6
Goldstein, J.L.7
-
6
-
-
0026569285
-
A nonsense mutation in the LDL receptor gene leads to familial hypercholesterolemia in the Druze sect
-
Landsberger D, Meiner V, Reshef A, Levy Y, van der Westhuyzen DR, Coetzee GA, Leitersdorf E. A nonsense mutation in the LDL receptor gene leads to familial hypercholesterolemia in the Druze sect. Am J Hum Genet 1992;50:427.
-
(1992)
Am J Hum Genet
, vol.50
, pp. 427
-
-
Landsberger, D.1
Meiner, V.2
Reshef, A.3
Levy, Y.4
Van Der Westhuyzen, D.R.5
Coetzee, G.A.6
Leitersdorf, E.7
-
7
-
-
0026686162
-
The familial hypercholesterolemia (FH)-North Karelia mutation of the low density lipoprotein receptor gene deletes seven nucleotides of exon 6 and is a common cause of FH in Finland
-
Koivisto UM, Turtola H, Aalto-Setälä K, Top B, Frants RR, Kovanen PT, Syvänen AC, Kontula K. The familial hypercholesterolemia (FH)-North Karelia mutation of the low density lipoprotein receptor gene deletes seven nucleotides of exon 6 and is a common cause of FH in Finland. J Clin Invest 1992;90:219.
-
(1992)
J Clin Invest
, vol.90
, pp. 219
-
-
Koivisto, U.M.1
Turtola, H.2
Aalto-Setälä, K.3
Top, B.4
Frants, R.R.5
Kovanen, P.T.6
Syvänen, A.C.7
Kontula, K.8
-
8
-
-
0025915296
-
The molecular basis and diagnosis of familial hypercholesterolemia in South African Afrikaners
-
Kotze MJ, Langenhoven E, Warnich L, Du Plesis L, Retief AE. The molecular basis and diagnosis of familial hypercholesterolemia in South African Afrikaners. Ann Hum Genet 1991;55:115.
-
(1991)
Ann Hum Genet
, vol.55
, pp. 115
-
-
Kotze, M.J.1
Langenhoven, E.2
Warnich, L.3
Du Plesis, L.4
Retief, A.E.5
-
9
-
-
0026338684
-
A common lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews
-
Meiner V, Landsberger D, Berkman N, Reshef A, Segal P, Seftel HC, van der Westhuyzen DR, Jeenah MS, Coetzee GA, Leitersdorf E. A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews. Am J Hum Genet 1991;49:443.
-
(1991)
Am J Hum Genet
, vol.49
, pp. 443
-
-
Meiner, V.1
Landsberger, D.2
Berkman, N.3
Reshef, A.4
Segal, P.5
Seftel, H.C.6
Van Der Westhuyzen, D.R.7
Jeenah, M.S.8
Coetzee, G.A.9
Leitersdorf, E.10
-
10
-
-
0025745305
-
Detection of the apoB-3500 mutation (glutamine for arginine) by gene amplification and cleavage with MspI
-
Hansen PS, Rüdiger N, Tybjærg-Hansen A, Færgeman O, Gregersen N. Detection of the apoB-3500 mutation (glutamine for arginine) by gene amplification and cleavage with MspI. J Lipid Res 1991;32:1229.
-
(1991)
J Lipid Res
, vol.32
, pp. 1229
-
-
Hansen, P.S.1
Rüdiger, N.2
Tybjærg-Hansen, A.3
Færgeman, O.4
Gregersen, N.5
-
11
-
-
0015348189
-
Estimation of the concentration of the low density lipoprotein cholesterol in plasma without use af the preparative ultracentrifuge
-
Friedewald WT, Levy FI, Fredrickson DS. Estimation of the concentration of the low density lipoprotein cholesterol in plasma without use af the preparative ultracentrifuge. Clin Chem 1972;18:499.
-
(1972)
Clin Chem
, vol.18
, pp. 499
-
-
Friedewald, W.T.1
Levy, F.I.2
Fredrickson, D.S.3
-
12
-
-
0028167762
-
119-lys mutation in the low density lipoprotein receptor gene in two Danish families with heterozygous familial hypercholesterolemia
-
119-Lys mutation in the low density lipoprotein receptor gene in two Danish families with heterozygous familial hypercholesterolemia. Hum Mutat 1994;4:102.
-
(1994)
Hum Mutat
, vol.4
, pp. 102
-
-
Jensen, H.K.1
Jensen, T.G.2
Jensen, L.G.3
Hansen, P.S.4
Kjeldsen, M.5
Andresen, B.S.6
Nielsen, V.7
Meinertz, H.8
Hansen, A.B.9
Bolund, L.10
Færgeman, O.11
Gregersen, N.12
-
13
-
-
0025816582
-
A polymorphism in exon 2 of the human LDL-receptor gene identified by gene amplification and oligo nucleotide hybridization or restriction enzyme digestion
-
Soutar AK. A polymorphism in exon 2 of the human LDL-receptor gene identified by gene amplification and oligo nucleotide hybridization or restriction enzyme digestion. Nucleic Acids Res 1991;19:4314.
-
(1991)
Nucleic Acids Res
, vol.19
, pp. 4314
-
-
Soutar, A.K.1
-
14
-
-
0028096118
-
A new, highly informative Smal polymorphism in intron 7 of the low density lipoprotein receptor (LDL-R) gene
-
Jensen LG, Jensen HK, Kjeldsen M, Gerdes LU, Hansen PS, Færgeman O, Kolvraa S, Bolund L, Gregersen N. A new, highly informative Smal polymorphism in intron 7 of the low density lipoprotein receptor (LDL-R) gene. Clin Genet 1994;45:52.
-
(1994)
Clin Genet
, vol.45
, pp. 52
-
-
Jensen, L.G.1
Jensen, H.K.2
Kjeldsen, M.3
Gerdes, L.U.4
Hansen, P.S.5
Færgeman, O.6
Kolvraa, S.7
Bolund, L.8
Gregersen, N.9
-
17
-
-
0027514263
-
Six DNA polymorphisms in the low density lipoprotein receptor gene: Their genetic relationship and an example of their use for identifying affected relatives of patients with familial hypercholesterolaemia
-
Humphries S, King-Underwood L, Gudnason V, Seed M, Delattre S, Clavey V, Fruchart JC. Six DNA polymorphisms in the low density lipoprotein receptor gene: their genetic relationship and an example of their use for identifying affected relatives of patients with familial hypercholesterolaemia. J Med Genet 1993;30:273.
-
(1993)
J Med Genet
, vol.30
, pp. 273
-
-
Humphries, S.1
King-Underwood, L.2
Gudnason, V.3
Seed, M.4
Delattre, S.5
Clavey, V.6
Fruchart, J.C.7
-
18
-
-
0039936781
-
Dinucleotide repeat polymorphism at the 3' end of the ldl receptor gene
-
Zuliani G, Hobbs HH. Dinucleotide repeat polymorphism at the 3' end of the LDL receptor gene. Nucleic Acids Res 1987;15:3943.
-
(1987)
Nucleic Acids Res
, vol.15
, pp. 3943
-
-
Zuliani, G.1
Hobbs, H.H.2
-
19
-
-
0002168913
-
The Copenhagen City heart study
-
Appleyard M. (ed). the Copenhagen City Heart Study. Scand J Soc Med 1989;(suppl.) 17.
-
(1989)
Scand J Soc Med
, Issue.SUPPL.
, pp. 17
-
-
Appleyard, M.1
-
20
-
-
0024121631
-
Nonsense mutations in the human β-globin gene affect mRNA metabolism
-
Baserga SJ, Benz Jr EJ. Nonsense mutations in the human β-globin gene affect mRNA metabolism. Proc Natl Acad Sci USA 1988;85:2056.
-
(1988)
Proc Natl Acad Sci USA
, vol.85
, pp. 2056
-
-
Baserga, S.J.1
Benz E.J., Jr.2
-
21
-
-
0026322140
-
Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis
-
Harmosh A, Trapnell BC, Zeitlin PL, Montrose-Rafizadeh, Rosenstein BJ, Crystal RG, Cutting GR. Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis. J Clin Invest 1991;88:1800.
-
(1991)
J Clin Invest
, vol.88
, pp. 1800
-
-
Harmosh, A.1
Trapnell, B.C.2
Zeitlin, P.L.3
Montrose-Rafizadeh4
Rosenstein, B.J.5
Crystal, R.G.6
Cutting, G.R.7
-
22
-
-
0028030499
-
Detection of a novel mutation (stop 468) in exon 10 of the low-density lipoprotein receptor gene causing familial hypercholesterolemia among French Canadians
-
Simard J, Moorjani S, Vohl MC, Couture P, Torres AL, Gagne C, Despres JP, Labrie F, Lupien PJ. Detection of a novel mutation (stop 468) in exon 10 of the low-density lipoprotein receptor gene causing familial hypercholesterolemia among French Canadians. Hum Mol Genet 1994;9:1689.
-
(1994)
Hum Mol Genet
, vol.9
, pp. 1689
-
-
Simard, J.1
Moorjani, S.2
Vohl, M.C.3
Couture, P.4
Torres, A.L.5
Gagne, C.6
Despres, J.P.7
Labrie, F.8
Lupien, P.J.9
-
23
-
-
0027323004
-
Mutations of low-density-lipoprotein-receptor gene, variation in plasma cholesterol, and expression of coronary heart disease in homozygous familial hypercholesterolemia
-
Moorjani S, Roy M, Torres A, Bétard C, Gagné C, Lambert M, Brun D, Davignon J, Lupien P. Mutations of low-density-lipoprotein-receptor gene, variation in plasma cholesterol, and expression of coronary heart disease in homozygous familial hypercholesterolemia. Lancet 1993;341:1303.
-
(1993)
Lancet
, vol.341
, pp. 1303
-
-
Moorjani, S.1
Roy, M.2
Torres, A.3
Bétard, C.4
Gagné, C.5
Lambert, M.6
Brun, D.7
Davignon, J.8
Lupien, P.9
-
24
-
-
17144447064
-
Genetic determinants of responsiveness to the HMG-CoA reductase inhibitor Fluvastatin in patients with molecularly defined heterozygous familial hypercholesterolemia
-
Leitersdorf E, Eisenberg S, Eliav O, Friediander Y, Berkman N, Dann EJ, Landsberger D, Sehayek E, Meiner V, Wurm M, Bard J-M, Fruchart J-C, Stein Y. Genetic determinants of responsiveness to the HMG-CoA reductase inhibitor Fluvastatin in patients with molecularly defined heterozygous familial hypercholesterolemia. Circulation 1993;87(suppl)III:III-35.
-
(1993)
Circulation
, vol.87
, Issue.3 SUPPL.
-
-
Leitersdorf, E.1
Eisenberg, S.2
Eliav, O.3
Friediander, Y.4
Berkman, N.5
Dann, E.J.6
Landsberger, D.7
Sehayek, E.8
Meiner, V.9
Wurm, M.10
Bard, J.-M.11
Fruchart, J.-C.12
Stein, Y.13
-
25
-
-
0026652905
-
Diagnosis of heterozygous familial hypercholesterolemia. DNA analysis complements clinical examination and analysis of serum lipid levels
-
Koivisto PV, Koivisto UM, Miettinen TA, Kontula K. Diagnosis of heterozygous familial hypercholesterolemia. DNA analysis complements clinical examination and analysis of serum lipid levels. Arterioscler Thromb 1992;12:584.
-
(1992)
Arterioscler Thromb
, vol.12
, pp. 584
-
-
Koivisto, P.V.1
Koivisto, U.M.2
Miettinen, T.A.3
Kontula, K.4
-
26
-
-
0027331224
-
Deletion of exon 15 of the LDL receptor gene is associated with a mild form of familial hypercholesterolemia FH-Espoo
-
Koivisto PVI, Koivisto U-M, Kovanen PT, Gylling H, Miettinen TA, Kontula K. Deletion of exon 15 of the LDL receptor gene is associated with a mild form of familial hypercholesterolemia FH-Espoo. Arterioscler Thromb 1993;13:1680.
-
(1993)
Arterioscler Thromb
, vol.13
, pp. 1680
-
-
Koivisto, P.V.I.1
Koivisto, U.-M.2
Kovanen, P.T.3
Gylling, H.4
Miettinen, T.A.5
Kontula, K.6
-
27
-
-
0027429315
-
Phenotypic variation among familial hypercholesterolemics heterozygous for either one of two Afrikaner founder LDL receptor mutations
-
Kotze MJ, De Villers WJS, Steyn K, Kriek JA, Marais AD, Langenhoven E, Herbert JS, Graadt Van Roggen JF, Van der Westhuyzen DR, Coetzee GA. Phenotypic variation among familial hypercholesterolemics heterozygous for either one of two Afrikaner founder LDL receptor mutations. Arterioscler Thromb 1993;13,:1460.
-
(1993)
Arterioscler Thromb
, vol.13
, pp. 1460
-
-
Kotze, M.J.1
De Villers, W.J.S.2
Steyn, K.3
Kriek, J.A.4
Marais, A.D.5
Langenhoven, E.6
Herbert, J.S.7
Graadt Van Roggen, J.F.8
Van Der Westhuyzen, D.R.9
Coetzee, G.A.10
-
28
-
-
0028172756
-
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 INM, 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.
-
(1994)
Arterioscler Thromb
, vol.14
, pp. 1717
-
-
Gudnason, V.1
Day, I.N.M.2
Humphries, S.E.3
-
29
-
-
0039344590
-
Do mutations in the LDL receptor gene explain variation in LDL-cholesterol concentrations in children with heterozygous familial hypercholesterolemia?
-
Torres AL, Moorjani S, Vohl MC, Gagné C, Lamarche B, Brun D, Després JP, Lupien PJ. Do mutations in the LDL receptor gene explain variation in LDL-cholesterol concentrations in children with heterozygous familial hypercholesterolemia? (Abstract) Atherosclerosis 1994;109:203.
-
(1994)
Atherosclerosis
, vol.109
, pp. 203
-
-
Torres, A.L.1
Moorjani, S.2
Vohl, M.C.3
Gagné, C.4
Lamarche, B.5
Brun, D.6
Després, J.P.7
Lupien, P.J.8
|