-
1
-
-
0000710395
-
Familial hypercholesterolemia
-
Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York, NY: McGraw-Hill Publishing Co
-
Goldstein JL, Hobbs HH, Brown MS. Familial hypercholesterolemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic Basis of Inherited Diseases. New York, NY: McGraw-Hill Publishing Co; 1995: 1981-2030.
-
(1995)
The Metabolic Basis of Inherited Diseases
, pp. 1981-2030
-
-
Goldstein, J.L.1
Hobbs, H.H.2
Brown, M.S.3
-
2
-
-
0024558277
-
Homozygous familial hypercholesterolemia among French Canadians in Quebec Province
-
Moorjani S, Roy M, Gagné C, Davignon J, Brun D, Toussaint M, Lambert M, Campeau L, Blaichman S, Lupien P. Homozygous familial hypercholesterolemia among French Canadians in Quebec Province. Arteriosclerosis. 1989;9:211-216.
-
(1989)
Arteriosclerosis
, vol.9
, pp. 211-216
-
-
Moorjani, S.1
Roy, M.2
Gagné, C.3
Davignon, J.4
Brun, D.5
Toussaint, M.6
Lambert, M.7
Campeau, L.8
Blaichman, S.9
Lupien, P.10
-
3
-
-
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, Gagné C, Després 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; 3:1689-1691.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1689-1691
-
-
Simard, J.1
Moorjani, S.2
Vohl, M.C.3
Couture, P.4
Torres, A.L.5
Gagné, C.6
Després, J.P.7
Labrie, F.8
Lupien, P.J.9
-
4
-
-
0031965219
-
Identification of mutations in the low-density lipoprotein receptor gene causing familial hypercholesterolemia among French Canadians
-
Couture P, Vohl MC, Gagné C, Gaudet D, Torres AL, Lupien PJ, Després JP, Labrie F, Simard J, Moorjani S. Identification of mutations in the low-density lipoprotein receptor gene causing familial hypercholesterolemia among French Canadians. Hum Mutat. 1998;6(suppl 1): S-226-S-231.
-
(1998)
Hum Mutat
, vol.6
, Issue.1 SUPPL.
-
-
Couture, P.1
Vohl, M.C.2
Gagné, C.3
Gaudet, D.4
Torres, A.L.5
Lupien, P.J.6
Després, J.P.7
Labrie, F.8
Simard, J.9
Moorjani, S.10
-
5
-
-
0030912456
-
Identification of two novel LDL receptor gene defects in French-Canadian pediatric population: Mutational analysis and biochemical studies
-
Assouline L, Leitersdorf E, Lambert M, Reshef A, Feoli-Fonseca JC, Levy E. Identification of two novel LDL receptor gene defects in French-Canadian pediatric population: mutational analysis and biochemical studies. Hum Mutat. 1997;9:555-562.
-
(1997)
Hum Mutat
, vol.9
, pp. 555-562
-
-
Assouline, L.1
Leitersdorf, E.2
Lambert, M.3
Reshef, A.4
Feoli-Fonseca, J.C.5
Levy, E.6
-
6
-
-
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: 445-466.
-
(1992)
Hum Mutat
, vol.1
, pp. 445-466
-
-
Hobbs, H.H.1
Brown, M.S.2
Goldstein, J.L.3
-
7
-
-
0023239477
-
Deletion in the gene for the low-density-lipoprotein receptor in a majority of French Canadians with familial hypercholesterolemia
-
Hobbs HH, Brown MS, Russell DW, Davignon J, Goldstein JL. Deletion in the gene for the low-density-lipoprotein receptor in a majority of French Canadians with familial hypercholesterolemia. N Engl J Med. 1987;317:734-737.
-
(1987)
N Engl J Med
, vol.317
, pp. 734-737
-
-
Hobbs, H.H.1
Brown, M.S.2
Russell, D.W.3
Davignon, J.4
Goldstein, J.L.5
-
8
-
-
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;85:1014-1023.
-
(1990)
J Clin Invest
, vol.85
, pp. 1014-1023
-
-
Leitersdorf, E.1
Tobin, E.J.2
Davignon, J.3
Hobbs, H.H.4
-
9
-
-
0027323004
-
Mutations of low-density-lipoprotein-receptor gene, variation in plasma cholesterol, and expression of coronary heart disease in homozygous familial hypercholesterolaemia
-
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 hypercholesterolaemia. Lancet. 1993; 341:1303-1306.
-
(1993)
Lancet
, vol.341
, pp. 1303-1306
-
-
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
-
10
-
-
0026518938
-
Molecular genetic evidence for a founder effect in familial hypercholesterolemia among French Canadians
-
Bétard C, Kessling AM, Roy M. Chamberland A, Lussier-Cacan S, Davignon J. Molecular genetic evidence for a founder effect in familial hypercholesterolemia among French Canadians. Hum Genet. 1992;88: 529-536.
-
(1992)
Hum Genet
, vol.88
, pp. 529-536
-
-
Bétard, C.1
Kessling, A.M.2
Roy, M.3
Chamberland, A.4
Lussier-Cacan, S.5
Davignon, J.6
-
11
-
-
0030604003
-
Heterozygous familial hypercholesterolemia in children: Low-density-lipoprotein receptor mutational analysis and variation in the expression of plasma lipoprotein-lipid concentrations
-
Torres AL, Moorjani S, Vohl MC, Gagné C, Lamarche B, Brun LD, Lupien P, Després JP. Heterozygous familial hypercholesterolemia in children: low-density-lipoprotein receptor mutational analysis and variation in the expression of plasma lipoprotein-lipid concentrations. Atherosclerosis. 1996;126:163-171.
-
(1996)
Atherosclerosis
, vol.126
, pp. 163-171
-
-
Torres, A.L.1
Moorjani, S.2
Vohl, M.C.3
Gagné, C.4
Lamarche, B.5
Brun, L.D.6
Lupien, P.7
Després, J.P.8
-
12
-
-
0018918106
-
Lipoprotein-cholesterol distributions in selected North American populations: The Lipid Research Clinics Program Prevalence Study
-
Heiss G, Tamir I, Davis CE, Tyroler HA, Rifkand BM, Schonfeld G, Jacobs D, Frantz ID Jr. Lipoprotein-cholesterol distributions in selected North American populations: the Lipid Research Clinics Program Prevalence Study. Circulation. 1980;61:302-315.
-
(1980)
Circulation
, vol.61
, pp. 302-315
-
-
Heiss, G.1
Tamir, I.2
Davis, C.E.3
Tyroler, H.A.4
Rifkand, B.M.5
Schonfeld, G.6
Jacobs, D.7
Frantz Jr., I.D.8
-
13
-
-
0023154299
-
Increase in plasma high-density lipoprotein concentration following complete androgen blockage in men with prostatic carcinoma
-
Moorjani S, Dupont A, Labrie F, Lupien PJ, Brun D, Gagné C, Giguère M, Bélanger A. Increase in plasma high-density lipoprotein concentration following complete androgen blockage in men with prostatic carcinoma. Metabolism. 1987;36:244-250.
-
(1987)
Metabolism
, vol.36
, pp. 244-250
-
-
Moorjani, S.1
Dupont, A.2
Labrie, F.3
Lupien, P.J.4
Brun, D.5
Gagné, C.6
Giguère, M.7
Bélanger, A.8
-
14
-
-
0018191438
-
2+ precipitation procedures for estimating cholesterol in high-density lipoprotein
-
2+ precipitation procedures for estimating cholesterol in high-density lipoprotein. Clin Chem. 1978;24: 853-856.
-
(1978)
Clin Chem
, vol.24
, pp. 853-856
-
-
Albers, J.J.1
Warnick, G.R.2
Wiebe, D.3
King, P.4
Steiner, P.5
Smith, L.6
Breckenridge, C.7
Chow, A.8
Kuba, K.9
Weidman, S.10
Arnett, H.11
Wood, P.12
Shlagenhaft, A.13
-
15
-
-
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
-
17
-
-
0024441521
-
Identification of a second "French Canadian" LDL receptor gene deletion and development of a rapid method to detect both deletions
-
Ma YH, Bétard C, Roy M, Davignon J, Kessling AM. Identification of a second "French Canadian" LDL receptor gene deletion and development of a rapid method to detect both deletions. Clin Genet. 1989;36:219-228.
-
(1989)
Clin Genet
, vol.36
, pp. 219-228
-
-
Ma, Y.H.1
Bétard, C.2
Roy, M.3
Davignon, J.4
Kessling, A.M.5
-
19
-
-
0025257612
-
Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI
-
Hixson JE, Vernier DT. Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI. J Lipid Res. 1990;31: 545-548.
-
(1990)
J Lipid Res
, vol.31
, pp. 545-548
-
-
Hixson, J.E.1
Vernier, D.T.2
-
20
-
-
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, Friedlander 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-III-44.
-
(1993)
Circulation
, vol.87
, Issue.3 SUPPL.
-
-
Leitersdorf, E.1
Eisenberg, S.2
Eliav, O.3
Friedlander, 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
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