-
1
-
-
0000600880
-
Familial hypercholesterolemia
-
Scriver C.R. (Ed), McGraw Hill, New York
-
Goldstein J.L., Hobbs H.H., and Brown M.S. Familial hypercholesterolemia. In: Scriver C.R. (Ed). The metabolic and molecular bases of inherited disease (2001), McGraw Hill, New York 2863-2913
-
(2001)
The metabolic and molecular bases of inherited disease
, pp. 2863-2913
-
-
Goldstein, J.L.1
Hobbs, H.H.2
Brown, M.S.3
-
2
-
-
0027491198
-
Homozygous familial hypercholesterolemia: a paradigm for phenotypic variation
-
Hoeg J.M. Homozygous familial hypercholesterolemia: a paradigm for phenotypic variation. Am J Cardiol 72 (1993) 11D-14D
-
(1993)
Am J Cardiol
, vol.72
-
-
Hoeg, J.M.1
-
3
-
-
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 I.N.M., and Humphries S.E. Effect on plasma lipid levels of different classes of mutations in the low-density lipoprotein receptor gene in patients with familial hypercholesterolemia. Arterioscler Thromb 17 (1994) 1717-1722
-
(1994)
Arterioscler Thromb
, vol.17
, pp. 1717-1722
-
-
Gudnason, V.1
Day, I.N.M.2
Humphries, S.E.3
-
4
-
-
0027768735
-
Familial defective apolipoprotein B-100: a review, including some comparison with familial hypercholesterolemia
-
Myant N.B. Familial defective apolipoprotein B-100: a review, including some comparison with familial hypercholesterolemia. Atherosclerosis 104 (1993) 1-18
-
(1993)
Atherosclerosis
, vol.104
, pp. 1-18
-
-
Myant, N.B.1
-
5
-
-
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., et al. Familial ligand-defective apolipoprotein B: identification of a new mutation that decreases LDL receptor binding affinity. J Clin Invest 95 (1995) 1225-1234
-
(1995)
J Clin Invest
, vol.95
, pp. 1225-1234
-
-
Pullinger, C.R.1
Hennessy, L.K.2
Chatterton, J.E.3
-
6
-
-
0029090626
-
Independent mutations at codon 3500 of the apolipoprotein B gene are associated with hyperlipidaemia
-
Gaffney D., Reid J.M., Cameron I.M., et al. Independent mutations at codon 3500 of the apolipoprotein B gene are associated with hyperlipidaemia. Arterioscle Thromb Vasc Biol 15 (1995) 1025-1029
-
(1995)
Arterioscle Thromb Vasc Biol
, vol.15
, pp. 1025-1029
-
-
Gaffney, D.1
Reid, J.M.2
Cameron, I.M.3
-
7
-
-
0026546616
-
Familial defective apolipoprotien B-100: a common cause of primary hyperlipemia
-
Rauh G., Keller C., Schuster H., Wolfram G., and Zollner N. Familial defective apolipoprotien B-100: a common cause of primary hyperlipemia. Clin Invest 70 (1992) 77-84
-
(1992)
Clin Invest
, vol.70
, pp. 77-84
-
-
Rauh, G.1
Keller, C.2
Schuster, H.3
Wolfram, G.4
Zollner, N.5
-
8
-
-
0033549180
-
Estudio del defecto familiar de la apo B-100 en sujetos con el diagnóstico clínico de hipercolesterolemia primaria: identificación de la primera familia afectada en España
-
Real J.T., Chaves F.J., Ascaso J.F., Armengod M.E., and Carmena R. Estudio del defecto familiar de la apo B-100 en sujetos con el diagnóstico clínico de hipercolesterolemia primaria: identificación de la primera familia afectada en España. Med Clin (Barna) 113 (1999) 15-17
-
(1999)
Med Clin (Barna)
, vol.113
, pp. 15-17
-
-
Real, J.T.1
Chaves, F.J.2
Ascaso, J.F.3
Armengod, M.E.4
Carmena, R.5
-
9
-
-
38949126953
-
-
Human Genetic Program, Division of Noncomunicable Diseases, World Health Organization, Geneva, Switzerland
-
Human Genetic Program, Division of Noncomunicable Diseases. Familial hypercholesterolemia, FH Report of WHO consultation (1997), World Health Organization, Geneva, Switzerland 1-45
-
(1997)
Familial hypercholesterolemia, FH Report of WHO consultation
, pp. 1-45
-
-
-
10
-
-
0042827219
-
Identificación y caracterización del primer homocigoto español con defecto familiar de unión de la apolipoproteina B
-
Real J.T., Chaves J.F., Martín de Llano J.J., et al. Identificación y caracterización del primer homocigoto español con defecto familiar de unión de la apolipoproteina B. Med Clin (Barna) 116 (2001) 138-141
-
(2001)
Med Clin (Barna)
, vol.116
, pp. 138-141
-
-
Real, J.T.1
Chaves, J.F.2
Martín de Llano, J.J.3
-
11
-
-
0016373654
-
Enzymatic determination of total serum cholesterol
-
Allain C.C., Poon L.S., Chan C.S.G., Richmond W., and Fu P.C. Enzymatic determination of total serum cholesterol. Clin Chem 20 (1974) 470-475
-
(1974)
Clin Chem
, vol.20
, pp. 470-475
-
-
Allain, C.C.1
Poon, L.S.2
Chan, C.S.G.3
Richmond, W.4
Fu, P.C.5
-
12
-
-
0021448003
-
Influence of free glycerol on enzymatic evaluation of triglycerides
-
Ter Welle H.F., Baartscheer T., and Fiolet J.W.T. Influence of free glycerol on enzymatic evaluation of triglycerides. Clin Chem 30 (1984) 1102-1103
-
(1984)
Clin Chem
, vol.30
, pp. 1102-1103
-
-
Ter Welle, H.F.1
Baartscheer, T.2
Fiolet, J.W.T.3
-
13
-
-
0014876627
-
Rapid method for the isolation of lipoproteins from human serum by precipitation with polyanions
-
Burstein M., Scholnick H.R., and Morfin R. Rapid method for the isolation of lipoproteins from human serum by precipitation with polyanions. J Lipid Res 11 (1970) 583-595
-
(1970)
J Lipid Res
, vol.11
, pp. 583-595
-
-
Burstein, M.1
Scholnick, H.R.2
Morfin, R.3
-
14
-
-
0000207474
-
The distribution and chemical composition of centrifugally separated lipoproteins in human serum
-
Havel R.J., Eder H.J., and Bragdon J.H. The distribution and chemical composition of centrifugally separated lipoproteins in human serum. Eur J Clin Invest 34 (1995) 13455
-
(1995)
Eur J Clin Invest
, vol.34
, pp. 13455
-
-
Havel, R.J.1
Eder, H.J.2
Bragdon, J.H.3
-
15
-
-
0020663077
-
Some considerations of methodology and standarization of apolipoprotein B immunoassays
-
Rosseneu M., Vercaemst R., Steinberg K.K., and Cooper G.R. Some considerations of methodology and standarization of apolipoprotein B immunoassays. Clin Chem 29 (1983) 427-433
-
(1983)
Clin Chem
, vol.29
, pp. 427-433
-
-
Rosseneu, M.1
Vercaemst, R.2
Steinberg, K.K.3
Cooper, G.R.4
-
16
-
-
0024346890
-
Use of silica gel polymer for DNA extraction with organic solvents
-
Tilzer L., Thomas S., and Moreno R.F. Use of silica gel polymer for DNA extraction with organic solvents. Anal Biochem 183 (1989) 13-15
-
(1989)
Anal Biochem
, vol.183
, pp. 13-15
-
-
Tilzer, L.1
Thomas, S.2
Moreno, R.F.3
-
17
-
-
0035055956
-
Large rearrangements of the LDL receptor gene and lipid profile in a Spanish population
-
Chaves F.J., Real J.T., García-García A.B., et al. Large rearrangements of the LDL receptor gene and lipid profile in a Spanish population. Eur J Clin Invest 31 (2001) 309-317
-
(2001)
Eur J Clin Invest
, vol.31
, pp. 309-317
-
-
Chaves, F.J.1
Real, J.T.2
García-García, A.B.3
-
18
-
-
0346154514
-
Molecular genetics of familial hypercholesterolemia in Spain: ten novel LDLR mutations and population analysis
-
García-García A.B., Real J.T., Puig O., et al. Molecular genetics of familial hypercholesterolemia in Spain: ten novel LDLR mutations and population analysis. Hum Mutat 454 (2001) 1-9
-
(2001)
Hum Mutat
, vol.454
, pp. 1-9
-
-
García-García, A.B.1
Real, J.T.2
Puig, O.3
-
19
-
-
0026628604
-
Allele specific and asymetric Polymerase chain reaction amplification in combination: a step polymerase chain reaction protocol for rapid diagnosis of familial defective apolipoprotein B-100
-
Schuster H., Rauh G., Müller S., Keller C., Wolfram G., and Zöllner N. Allele specific and asymetric Polymerase chain reaction amplification in combination: a step polymerase chain reaction protocol for rapid diagnosis of familial defective apolipoprotein B-100. Ann Bioch 204 (1992) 22-25
-
(1992)
Ann Bioch
, vol.204
, pp. 22-25
-
-
Schuster, H.1
Rauh, G.2
Müller, S.3
Keller, C.4
Wolfram, G.5
Zöllner, N.6
-
20
-
-
0025257612
-
Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI
-
Hixon J.E., and Vernier D.T. Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI. J Lipid Res 31 (1990) 545-548
-
(1990)
J Lipid Res
, vol.31
, pp. 545-548
-
-
Hixon, J.E.1
Vernier, D.T.2
-
21
-
-
0034787393
-
Gender specific association of the Trp64Arg mutation in the beta3-adrenargic receptor gene with obesity related phenotypes in a Mediterranean population: interaction with a common lipoprotein gene variation
-
Corella D., Guillen M., Portoles O., et al. Gender specific association of the Trp64Arg mutation in the beta3-adrenargic receptor gene with obesity related phenotypes in a Mediterranean population: interaction with a common lipoprotein gene variation. J Intern Med 250 (2001) 348-360
-
(2001)
J Intern Med
, vol.250
, pp. 348-360
-
-
Corella, D.1
Guillen, M.2
Portoles, O.3
-
22
-
-
0032759131
-
Mutation screening and genotype: phenotype correlation in familial hypercholesterolemia
-
Graham C.A., McClean E., Ward A.J., et al. Mutation screening and genotype: phenotype correlation in familial hypercholesterolemia. Atherosclerosis 147 (1999) 309-316
-
(1999)
Atherosclerosis
, vol.147
, pp. 309-316
-
-
Graham, C.A.1
McClean, E.2
Ward, A.J.3
-
23
-
-
0031026680
-
Homozygous familial defective apolipoprotein B 100. Enhaced removal of apolipoprotein E containing VLDLs and decreased production of LDLs
-
Schaefer J.R., Scharnagl H., Baumstark M.W., et al. Homozygous familial defective apolipoprotein B 100. Enhaced removal of apolipoprotein E containing VLDLs and decreased production of LDLs. Arterioscler Thromb Vasc Biol 17 (1997) 348-353
-
(1997)
Arterioscler Thromb Vasc Biol
, vol.17
, pp. 348-353
-
-
Schaefer, J.R.1
Scharnagl, H.2
Baumstark, M.W.3
-
24
-
-
0029973954
-
Increased clearance of low density lipoprotein precursors in patients with heterozygous familial defective apolipoprotein B-100: a stable isotope approach
-
Pietzsch J., Wiedemann B., Julius U., et al. Increased clearance of low density lipoprotein precursors in patients with heterozygous familial defective apolipoprotein B-100: a stable isotope approach. J Lipid Res 37 (1996) 2074-2087
-
(1996)
J Lipid Res
, vol.37
, pp. 2074-2087
-
-
Pietzsch, J.1
Wiedemann, B.2
Julius, U.3
-
25
-
-
0026474434
-
Familial defective apolipoprotein B-100: mild hypercholesterolemia without atherosclerosis in a homozygous patient
-
März W., Ruzicka V., Pohl T., Usadel K.H., and Gross W. Familial defective apolipoprotein B-100: mild hypercholesterolemia without atherosclerosis in a homozygous patient. Lancet 340 (1992) 1362
-
(1992)
Lancet
, vol.340
, pp. 1362
-
-
März, W.1
Ruzicka, V.2
Pohl, T.3
Usadel, K.H.4
Gross, W.5
-
26
-
-
18544391597
-
Increased production of HDL ApoA-I in homozygous familial defective apoB-100
-
Schaefer J.R., Winkler K., Schweer H., et al. Increased production of HDL ApoA-I in homozygous familial defective apoB-100. Arterioscler Thromb Vasc Biol 20 (2000) 1796-1799
-
(2000)
Arterioscler Thromb Vasc Biol
, vol.20
, pp. 1796-1799
-
-
Schaefer, J.R.1
Winkler, K.2
Schweer, H.3
-
27
-
-
0027286248
-
Variable expression of the mutation in familial defective apolipoprotein B-100
-
Gallagher J.J., and Myant N.B. Variable expression of the mutation in familial defective apolipoprotein B-100. Arterioscler Thromb 13 (1993) 973-976
-
(1993)
Arterioscler Thromb
, vol.13
, pp. 973-976
-
-
Gallagher, J.J.1
Myant, N.B.2
|