-
1
-
-
0026827054
-
National Cholesterol Education Program: report of the expert panel on blood cholesterol levels in children and adolescents
-
American Academy of Pediatrics. National Cholesterol Education Program: report of the expert panel on blood cholesterol levels in children and adolescents. Pediatrics 89 3 Pt 2 (1992) 525-584
-
(1992)
Pediatrics
, vol.89
, Issue.3 PART 2
, pp. 525-584
-
-
American Academy of Pediatrics1
-
2
-
-
0026738111
-
Committee on Nutrition: statement on cholesterol
-
American Academy of Pediatrics. Committee on Nutrition: statement on cholesterol. Pediatrics 90 3 (1992) 469-473
-
(1992)
Pediatrics
, vol.90
, Issue.3
, pp. 469-473
-
-
American Academy of Pediatrics1
-
3
-
-
0022494595
-
Mapping of the human APOB gene to chromosome 2p and demonstration of a two-allele restriction fragment length polymorphism
-
Huang L.S., Miller D.A., Bruns G.A.P., and Breslow J.L. Mapping of the human APOB gene to chromosome 2p and demonstration of a two-allele restriction fragment length polymorphism. Proc Natl Acad Sci 83 3 (1986) 644-648
-
(1986)
Proc Natl Acad Sci
, vol.83
, Issue.3
, pp. 644-648
-
-
Huang, L.S.1
Miller, D.A.2
Bruns, G.A.P.3
Breslow, J.L.4
-
4
-
-
0022549920
-
A receptor-mediated pathway for cholesterol homeostasis
-
Brown M.S., and Goldstein J.L. A receptor-mediated pathway for cholesterol homeostasis. Science 232 4746 (1986) 34-47
-
(1986)
Science
, vol.232
, Issue.4746
, pp. 34-47
-
-
Brown, M.S.1
Goldstein, J.L.2
-
5
-
-
0023007238
-
Complete protein sequence and identification of structural domains of human apolipoprotein B
-
Knott T.J., Pease R.J., Powell L.M., Wallis S.C., Rall Jr. S.C., Innerarity T.L., et al. Complete protein sequence and identification of structural domains of human apolipoprotein B. Nature 323 6090 (1986) 734-738
-
(1986)
Nature
, vol.323
, Issue.6090
, pp. 734-738
-
-
Knott, T.J.1
Pease, R.J.2
Powell, L.M.3
Wallis, S.C.4
Rall Jr., S.C.5
Innerarity, T.L.6
-
6
-
-
0025102741
-
Familial defective apolipoprotein B-100: a mutation of apolipoprotein B that causes hypercholesterolemia
-
Innerarity T.L., Mahley R.W., Weisgraber K.H., Bersot T.P., Krauss R.M., Vega G.L., et al. Familial defective apolipoprotein B-100: a mutation of apolipoprotein B that causes hypercholesterolemia. J Lipid Res 31 8 (1990) 1337-1349
-
(1990)
J Lipid Res
, vol.31
, Issue.8
, pp. 1337-1349
-
-
Innerarity, T.L.1
Mahley, R.W.2
Weisgraber, K.H.3
Bersot, T.P.4
Krauss, R.M.5
Vega, G.L.6
-
7
-
-
0028961832
-
Familial ligand-defective apolipoprotein B. Identification of a new mutation that decreases LDL receptor binding affinity
-
Pullinger C.R., Hennessy L.K., Chatterton J.E., Liu W., Love J.A., Mendel C.M., et al. Familial ligand-defective apolipoprotein B. Identification of a new mutation that decreases LDL receptor binding affinity. J Clin Invest 95 3 (1995) 1225-1234
-
(1995)
J Clin Invest
, vol.95
, Issue.3
, pp. 1225-1234
-
-
Pullinger, C.R.1
Hennessy, L.K.2
Chatterton, J.E.3
Liu, W.4
Love, J.A.5
Mendel, C.M.6
-
8
-
-
0029090626
-
Independent mutations at codon 3500 of the apolipoprotein B gene are associated with hyperlipidemia
-
Gaffney D., Reid J.M., Cameron I.M., Vass K., Caslake M.J., Shepherd J., et al. Independent mutations at codon 3500 of the apolipoprotein B gene are associated with hyperlipidemia. Arterioscler Thromb Vasc Biol 15 8 (1995) 1025-1029
-
(1995)
Arterioscler Thromb Vasc Biol
, vol.15
, Issue.8
, pp. 1025-1029
-
-
Gaffney, D.1
Reid, J.M.2
Cameron, I.M.3
Vass, K.4
Caslake, M.J.5
Shepherd, J.6
-
9
-
-
0032764964
-
A comparison of BRCA1 mutation analysis by direct sequencing, SSCP and DHPLC
-
Gross E., Arnold N., Goette J., Schwarz-boeger U., and Kiechle M. A comparison of BRCA1 mutation analysis by direct sequencing, SSCP and DHPLC. Human Genet 105 1-2 (1999) 72-78
-
(1999)
Human Genet
, vol.105
, Issue.1-2
, pp. 72-78
-
-
Gross, E.1
Arnold, N.2
Goette, J.3
Schwarz-boeger, U.4
Kiechle, M.5
-
10
-
-
0033805671
-
Identification of specific BRCA1 and BRCA2 variants by DHPLC
-
Gross E., Arnold N., Pfeifer K., Bandick, and Kiechle M. Identification of specific BRCA1 and BRCA2 variants by DHPLC. Hum Mutat 16 4 (2000) 345-353
-
(2000)
Hum Mutat
, vol.16
, Issue.4
, pp. 345-353
-
-
Gross, E.1
Arnold, N.2
Pfeifer, K.3
Bandick4
Kiechle, M.5
-
11
-
-
0032878113
-
Optimal temperature selection for mutation detection by denaturing high performance liquid chromatography and comparison to SSCP and heteroduplex analysis
-
Jones A.C., Austin J., Hansen N., Hoogendoorn B., Oefner P., Cheade J.P., et al. Optimal temperature selection for mutation detection by denaturing high performance liquid chromatography and comparison to SSCP and heteroduplex analysis. Clin Chem 45 8 Pt 1 (1999) 1133-1140
-
(1999)
Clin Chem
, vol.45
, Issue.8 PART 1
, pp. 1133-1140
-
-
Jones, A.C.1
Austin, J.2
Hansen, N.3
Hoogendoorn, B.4
Oefner, P.5
Cheade, J.P.6
-
12
-
-
0024558892
-
Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100
-
Soria L.F., Ludwig E.H., Clarke H.R., Vega G.L., Grudny S.M., and McCarthy B.J. Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100. Proc Natl Acad Sci USA 86 2 (1989) 587-591
-
(1989)
Proc Natl Acad Sci USA
, vol.86
, Issue.2
, pp. 587-591
-
-
Soria, L.F.1
Ludwig, E.H.2
Clarke, H.R.3
Vega, G.L.4
Grudny, S.M.5
McCarthy, B.J.6
-
13
-
-
0025102741
-
Familial defective apolipoprotein B-100: a mutation of apolipoprotein B that causes hypercholesterolemia
-
Innerarity T.L., Mahley R.W., Weisgraber K.H., et al. Familial defective apolipoprotein B-100: a mutation of apolipoprotein B that causes hypercholesterolemia. J Lipid Res 31 (1990) 1337-1349
-
(1990)
J Lipid Res
, vol.31
, pp. 1337-1349
-
-
Innerarity, T.L.1
Mahley, R.W.2
Weisgraber, K.H.3
-
14
-
-
0026779207
-
Familial defective apolipoprotein B-100: a single mutation that causes hypercholesterolemia and premature coronary artery disease
-
Tybjaerg-Hansen A., and Humphries S. Familial defective apolipoprotein B-100: a single mutation that causes hypercholesterolemia and premature coronary artery disease. Atherosclerosis 96 (1992) 91-107
-
(1992)
Atherosclerosis
, vol.96
, pp. 91-107
-
-
Tybjaerg-Hansen, A.1
Humphries, S.2
-
15
-
-
0027768735
-
Familial defective apolipoprotein B-100: a review, including some comparisons with familial hypercholesterolemia
-
Myant N.B. Familial defective apolipoprotein B-100: a review, including some comparisons with familial hypercholesterolemia. Atherosclerosis 104 (1993) 1-18
-
(1993)
Atherosclerosis
, vol.104
, pp. 1-18
-
-
Myant, N.B.1
-
16
-
-
0029067015
-
Identification of the apo B-3500 mutation in the Norwegian population
-
Leren T.P., Rodningen O.K., Tonstad S., et al. Identification of the apo B-3500 mutation in the Norwegian population. Scand J Clin Lab Invest 55 (1995) 217-221
-
(1995)
Scand J Clin Lab Invest
, vol.55
, pp. 217-221
-
-
Leren, T.P.1
Rodningen, O.K.2
Tonstad, S.3
-
17
-
-
0032574920
-
Association of mutations in the apolipoprotein B gene with hypercholesterolemia and the risk of ischemic heart disease
-
Tybjaerg-Hansen A., Steffensen R., Meinertz H., et al. Association of mutations in the apolipoprotein B gene with hypercholesterolemia and the risk of ischemic heart disease. N Engl J Med 338 (1998) 1577-1584
-
(1998)
N Engl J Med
, vol.338
, pp. 1577-1584
-
-
Tybjaerg-Hansen, A.1
Steffensen, R.2
Meinertz, H.3
-
18
-
-
0029081489
-
Familial defective apolipoprotein B-100 and myocardial infarction: The ECTIM study
-
Brousseau T., Arveiller D., Cambou J.P., et al. Familial defective apolipoprotein B-100 and myocardial infarction: The ECTIM study. Atherosclerosis 116 (1995) 269-271
-
(1995)
Atherosclerosis
, vol.116
, pp. 269-271
-
-
Brousseau, T.1
Arveiller, D.2
Cambou, J.P.3
-
19
-
-
0030805141
-
Familial ligand-defective apolipoprotein B-100: simultaneous detection of the Arg3500Gln and Arg3531Cys mutations in a French population
-
Rabes J.P., Varret M., Saint-Jore B., et al. Familial ligand-defective apolipoprotein B-100: simultaneous detection of the Arg3500Gln and Arg3531Cys mutations in a French population. Hum Mutat 10 (1997) 160-163
-
(1997)
Hum Mutat
, vol.10
, pp. 160-163
-
-
Rabes, J.P.1
Varret, M.2
Saint-Jore, B.3
-
20
-
-
0028209003
-
High prevalence of familial defective apolipoprotein B-100 in Switzerland
-
Miserez A.R., Laager R., Chiodetti N., et al. High prevalence of familial defective apolipoprotein B-100 in Switzerland. J Lipid Res 35 (1994) 574-583
-
(1994)
J Lipid Res
, vol.35
, pp. 574-583
-
-
Miserez, A.R.1
Laager, R.2
Chiodetti, N.3
-
21
-
-
0026779207
-
Familial defective apolipoprotein B-100: a single mutation that causes hypercholesterolemia and premature coronary artery disease
-
Tybjaerg-Hansen A., and Humphries S. Familial defective apolipoprotein B-100: a single mutation that causes hypercholesterolemia and premature coronary artery disease. Atherosclerosis 96 (1992) 91-107
-
(1992)
Atherosclerosis
, vol.96
, pp. 91-107
-
-
Tybjaerg-Hansen, A.1
Humphries, S.2
-
22
-
-
0031706072
-
Familial defective apolipoprotein B-100
-
Hansen P.S. Familial defective apolipoprotein B-100. Dan Med Bull 45 (1998) 370-382
-
(1998)
Dan Med Bull
, vol.45
, pp. 370-382
-
-
Hansen, P.S.1
-
23
-
-
0028168451
-
Incidence of the apolipoprotein B-3500 mutation in Denmark
-
Hansen P.S., Norgaard-Petersen B., Meinertz H., et al. Incidence of the apolipoprotein B-3500 mutation in Denmark. Clin Chim Acta 230 (1994) 101-104
-
(1994)
Clin Chim Acta
, vol.230
, pp. 101-104
-
-
Hansen, P.S.1
Norgaard-Petersen, B.2
Meinertz, H.3
-
24
-
-
17944378174
-
Apolipoprotein B Arg3500Gln mutation prevalence in children with hypercholesterolemia: a French multicenter study
-
Viola S., Benlian P., Morali A., Sobbelaere D., Lacaille F., Rieu D., Ginies J.L., et al. Apolipoprotein B Arg3500Gln mutation prevalence in children with hypercholesterolemia: a French multicenter study. J Pediatr Gastroenterol Nutr 33 (2001) 122-126
-
(2001)
J Pediatr Gastroenterol Nutr
, vol.33
, pp. 122-126
-
-
Viola, S.1
Benlian, P.2
Morali, A.3
Sobbelaere, D.4
Lacaille, F.5
Rieu, D.6
Ginies, J.L.7
-
25
-
-
0027768735
-
Familial defective apolipoprotein B-100: a review, including some comparisons with familial hypercholesterolemia
-
Myant N.B. Familial defective apolipoprotein B-100: a review, including some comparisons with familial hypercholesterolemia. Atherosclerosis 104 (1993) 1-18
-
(1993)
Atherosclerosis
, vol.104
, pp. 1-18
-
-
Myant, N.B.1
-
27
-
-
0034999807
-
Denaturing high-performance liquid chromatography: a review
-
Xiao W., and Oefner P.J. Denaturing high-performance liquid chromatography: a review. Hum Mut 17 (2001) 439-474
-
(2001)
Hum Mut
, vol.17
, pp. 439-474
-
-
Xiao, W.1
Oefner, P.J.2
-
28
-
-
0036198736
-
Mutation detection 2001: novel technologies, developments and applications for analysis of the human genome
-
Cotton R.G.H. Mutation detection 2001: novel technologies, developments and applications for analysis of the human genome. Hum Mut 19 (2002) 313-314
-
(2002)
Hum Mut
, vol.19
, pp. 313-314
-
-
Cotton, R.G.H.1
-
29
-
-
0242352696
-
High throughput detection of microsatellite instability by denaturing high-performance liquid chromatography
-
Pan K.F., Liu W., Lu Y.Y., Zhang L., Li Z.P., Lu W.L., et al. High throughput detection of microsatellite instability by denaturing high-performance liquid chromatography. Hum Mut 22 (2003) 388-394
-
(2003)
Hum Mut
, vol.22
, pp. 388-394
-
-
Pan, K.F.1
Liu, W.2
Lu, Y.Y.3
Zhang, L.4
Li, Z.P.5
Lu, W.L.6
-
30
-
-
33644873011
-
Screening of APOB gene mutations in subjects with clinical diagnosis of familial hypercholesterolemia
-
Meriño-Ibarra E., Castillo S., Mozas P., Cenarro A., Martorell E., Díaz J.L., et al. Screening of APOB gene mutations in subjects with clinical diagnosis of familial hypercholesterolemia. Hum Biol 77 5 (2005) 663-673
-
(2005)
Hum Biol
, vol.77
, Issue.5
, pp. 663-673
-
-
Meriño-Ibarra, E.1
Castillo, S.2
Mozas, P.3
Cenarro, A.4
Martorell, E.5
Díaz, J.L.6
|