-
1
-
-
0000683245
-
Disorders of the biogenesis and secretion of lipoproteins containing the B apoproteins
-
C.R. Scriver, A.L. Beaudet, W.S. Sly, & D. Valle. New York: McGraw-Hill. 2717-2752.pp
-
Kane J.P., Havel R.J. Disorders of the biogenesis and secretion of lipoproteins containing the B apoproteins. Scriver C.R., Beaudet A.L., Sly W.S., Valle D. The metabolic and molecular bases of inherited diseases. Vol. 3. 2001;McGraw-Hill, New York. 2717-2752.pp.
-
(2001)
The metabolic and molecular bases of inherited diseases. Vol. 3
-
-
Kane, J.P.1
Havel, R.J.2
-
2
-
-
0031706072
-
Familial defective apolipoprotein B-100
-
Hansen P.S. Familial defective apolipoprotein B-100. Review. Danish Med Bull. 45:1998;369-382.
-
(1998)
Review. Danish Med Bull
, vol.45
, pp. 369-382
-
-
Hansen, P.S.1
-
3
-
-
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., Schnohr P., Nordestgaard B.G. 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
Schnohr, P.4
Nordestgaard, B.G.5
-
4
-
-
0033811075
-
Familial defective apolipoprotein B-100: Detection and haplotype analysis of the Arg3500Gln mutation in hyperlipidemic Chinese
-
Teng Y.N., Pan J.P., Chou S.C.H., Tai D.Y., Lee-Chen G.J. Familial defective apolipoprotein B-100. detection and haplotype analysis of the Arg3500Gln mutation in hyperlipidemic Chinese Atherosclerosis. 152:2000;385-390.
-
(2000)
Atherosclerosis
, vol.152
, pp. 385-390
-
-
Teng, Y.N.1
Pan, J.P.2
Chou, S.C.H.3
Tai, D.Y.4
Lee-Chen, G.J.5
-
5
-
-
0034907588
-
Familial defective apoB100: A mutation emerged in the mesolithic period (letter)
-
Miserez A.R., Muller P.Y. Familial defective apoB100. a mutation emerged in the mesolithic period (letter) Atherosclerosis. 158:2001;253-254.
-
(2001)
Atherosclerosis
, vol.158
, pp. 253-254
-
-
Miserez, A.R.1
Muller, P.Y.2
-
6
-
-
0040520535
-
Manifestaciones clínicas de la hipercolesterolemia familiar heterozigota en España. Estudio de 301 casos de la zona centro y norte
-
Garcés C., Rodríguez F., Serrano A., González J., Almagro F., Garrido J.A. Manifestaciones clínicas de la hipercolesterolemia familiar heterozigota en España. Estudio de 301 casos de la zona centro y norte. Med Clin (Barc). 22:2000;50-51.
-
(2000)
Med Clin (Barc)
, vol.22
, pp. 50-51
-
-
Garcés, C.1
Rodríguez, F.2
Serrano, A.3
González, J.4
Almagro, F.5
Garrido, J.A.6
-
7
-
-
0035012625
-
The mutation APOB-100 R3500Q in Eastern Europe
-
Horvath A., Ganev V. The mutation APOB-100 R3500Q in Eastern Europe. Atherosclerosis. 156:2001;243-244.
-
(2001)
Atherosclerosis
, vol.156
, pp. 243-244
-
-
Horvath, A.1
Ganev, V.2
-
8
-
-
0032908140
-
The apolipoprotein B 3531 mutation: Characteristics of 24 subjects from 9 kindreds
-
Pullinger C.R., Gaffney D., Gutiérrez M.M., Mallory M.J., Schumaker V.N. The apolipoprotein B 3531 mutation. characteristics of 24 subjects from 9 kindreds J Lipid Res. 40:1999;318-327.
-
(1999)
J Lipid Res
, vol.40
, pp. 318-327
-
-
Pullinger, C.R.1
Gaffney, D.2
Gutiérrez, M.M.3
Mallory, M.J.4
Schumaker, V.N.5
-
9
-
-
0032802523
-
Mutations in the apolipoprotein (apo) B-100 receptor-binding region: Detection of apo B-100 (Arg3500Trp) associated with two new haplotypes and evidence that apo B-100 (Glu3405Gln) diminishes receptor-mediated uptake of LDL
-
Fisher E., Schanrnagl H., Hoffmann M.M., Kusterer K., Wittmann D., Wieland H., Gross W., Marz W. Mutations in the apolipoprotein (apo) B-100 receptor-binding region. detection of apo B-100 (Arg3500Trp) associated with two new haplotypes and evidence that apo B-100 (Glu3405Gln) diminishes receptor-mediated uptake of LDL Clin Chem. 45:1999;1026-1037.
-
(1999)
Clin Chem
, vol.45
, pp. 1026-1037
-
-
Fisher, E.1
Schanrnagl, H.2
Hoffmann, M.M.3
Kusterer, K.4
Wittmann, D.5
Wieland, H.6
Gross, W.7
Marz, W.8
-
10
-
-
0031873319
-
Identification and haplotype analysis of apolipoprotein B-100 Arg3500Trp mutation in hyperlipidemic Chinese
-
Yan Tai D., Pin Pan J., Jen Lee-Chen G. Identification and haplotype analysis of apolipoprotein B-100 Arg3500Trp mutation in hyperlipidemic Chinese. Clin Chem. 44:1998;1659-1665.
-
(1998)
Clin Chem
, vol.44
, pp. 1659-1665
-
-
Yan Tai, D.1
Pin Pan, J.2
Jen Lee-Chen, G.3
-
11
-
-
0029094386
-
Differences in the phenotypic characteristics of subjects with familial defective apolipoprotein B-100 and familial hypercholesterolemia
-
Miserez A.R., Keller U. Differences in the phenotypic characteristics of subjects with familial defective apolipoprotein B-100 and familial hypercholesterolemia. Arterioscler Thromb Vasc Biol. 15:1995;1719-1729.
-
(1995)
Arterioscler Thromb Vasc Biol
, vol.15
, pp. 1719-1729
-
-
Miserez, A.R.1
Keller, U.2
-
12
-
-
0026616754
-
3500-Gln) allele specific polymerase chain reaction: Large-scale screening of pooled blood samples
-
3500-Gln) allele specific polymerase chain reaction. large-scale screening of pooled blood samples J Lipid Res. 33:1992;1563-1567.
-
(1992)
J Lipid Res
, vol.33
, pp. 1563-1567
-
-
Ruzicka, V.1
-
13
-
-
0035189334
-
Frequency of the R3500Q mutation of the apolipoprotein B-100 gene in a sample screened for familial hypercholesterolemia in Hungary
-
Kalina A., Czeizel E., Romics L., Pados G., Reiber I., Dosa A., Hermany I., Lakatos Z., Tarjan J., Kollega-Tarsoly E., Kovaks M., Szalai C., Csaszar A. Frequency of the R3500Q mutation of the apolipoprotein B-100 gene in a sample screened for familial hypercholesterolemia in Hungary. Atherosclerosis. 154:2001;247-251.
-
(2001)
Atherosclerosis
, vol.154
, pp. 247-251
-
-
Kalina, A.1
Czeizel, E.2
Romics, L.3
Pados, G.4
Reiber, I.5
Dosa, A.6
Hermany, I.7
Lakatos, Z.8
Tarjan, J.9
Kollega-Tarsoly, E.10
Kovaks, M.11
Szalai, C.12
Csaszar, A.13
-
14
-
-
0028961832
-
Familial ligand-defective apolipoprotein B
-
Pullinger C.R., Hennessy L.K., Chatterton J.E., Liu W., Love J.A., Mundel C.M., Frost P.H., Malloy M.J., Schumaker V.N., Kane J.P. Familial ligand-defective apolipoprotein B. 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
Liu, W.4
Love, J.A.5
Mundel, C.M.6
Frost, P.H.7
Malloy, M.J.8
Schumaker, V.N.9
Kane, J.P.10
-
15
-
-
0027514408
-
A robust strategy for screening and confirmation of familial defective apolipoprotein B-100
-
Mamotte C.D., van Bockxmeer F.M. A robust strategy for screening and confirmation of familial defective apolipoprotein B-100. Clin Chem. 39(1):1993;118-121.
-
(1993)
Clin Chem
, vol.39
, Issue.1
, pp. 118-121
-
-
Mamotte, C.D.1
Van Bockxmeer, F.M.2
-
16
-
-
12244297202
-
Familial defective apoB100 in a South European population
-
Real J.T., Chaves F.J., Ejarque M.J., Catalá M.J., Priego M.A., Ascaso J.F., Armengod M.E., Carmena R. Familial defective apoB100 in a South European population. Atherosclerosis. 2:2001;69-70.
-
(2001)
Atherosclerosis
, vol.2
, pp. 69-70
-
-
Real, J.T.1
Chaves, F.J.2
Ejarque, M.J.3
Catalá, M.J.4
Priego, M.A.5
Ascaso, J.F.6
Armengod, M.E.7
Carmena, R.8
-
17
-
-
0033979465
-
Familial defective apolipoprotein B-100: A mutation emerged in the Mesolithic ancestors of Celtic peoples?
-
Miserez A.R., Muller P.Y. Familial defective apolipoprotein B-100. a mutation emerged in the Mesolithic ancestors of Celtic peoples? Atherosclerosis. 148:2000;433-436.
-
(2000)
Atherosclerosis
, vol.148
, pp. 433-436
-
-
Miserez, A.R.1
Muller, P.Y.2
-
18
-
-
0011723065
-
Familial defective apolipoprotein B-100: Low density lipoprotein with abnormal receptor binding
-
Innerarity T.L., Weisgraber K.H., Arnold K.S., Mahley R.W., Krauss R.M., Vega G.L., Grundy S.M. Familial defective apolipoprotein B-100. low density lipoprotein with abnormal receptor binding Proc Natl Acad Sci USA. 84:1987;6919-6923.
-
(1987)
Proc Natl Acad Sci USA
, 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
-
19
-
-
0025149589
-
Haplotype analysis of the human apolipoprotein B mutation associated with familial defective apolipoprotein B100
-
Ludwig E.H., McCarthy B.J. Haplotype analysis of the human apolipoprotein B mutation associated with familial defective apolipoprotein B100. Am J Hum Genet. 47:1990;712-720.
-
(1990)
Am J Hum Genet
, vol.47
, pp. 712-720
-
-
Ludwig, E.H.1
McCarthy, B.J.2
-
20
-
-
12244271560
-
-
Reviewed on August 13
-
Accessible at: www.ucl.ac.uk/fh. Reviewed on August 13, 2002.
-
(2002)
-
-
-
21
-
-
0032890205
-
Mortality in treated heterozygous familial hypercholesterolemia: Implications for clinical management
-
Scientific Steering Committee on behalf of the Simon Broome Register Group Mortality in treated heterozygous familial hypercholesterolemia. implications for clinical management Atherosclerosis. 142:1999;105-112.
-
(1999)
Atherosclerosis
, vol.142
, pp. 105-112
-
-
-
22
-
-
0036551218
-
Molecular basis of familial hypercholesterolemia in Brazil: Identification of seven novel LDLR gene mutations
-
Salazar L.A., Hirata M.H., Cavalli S.A., Nakandakare E.R., Forti N., Diament J., Giannini S., Bertolami M., Hirata R. Molecular basis of familial hypercholesterolemia in Brazil. identification of seven novel LDLR gene mutations Hum Mutat. 19:2002;462-463.
-
(2002)
Hum Mutat
, vol.19
, pp. 462-463
-
-
Salazar, L.A.1
Hirata, M.H.2
Cavalli, S.A.3
Nakandakare, E.R.4
Forti, N.5
Diament, J.6
Giannini, S.7
Bertolami, M.8
Hirata, R.9
-
23
-
-
0033144184
-
The Lebanese mutation as an important cause of familial hypercholesterolemia in Brazil
-
Alberto F.L., Figuerido M.S., Zago M.A., Araújo A.G., Santos J.E. The Lebanese mutation as an important cause of familial hypercholesterolemia in Brazil. Braz J Med Biol Res. 32:1999;739-745.
-
(1999)
Braz J Med Biol Res
, vol.32
, pp. 739-745
-
-
Alberto, F.L.1
Figuerido, M.S.2
Zago, M.A.3
Araújo, A.G.4
Santos, J.E.5
-
24
-
-
0027301629
-
Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics
-
Williams R.R., Hunt S.C., Schumacher M.C., Hegele R.A., Leppert M.F., Ludwig E.H., Hopkins P.N. Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics. Am J Cardiol. 72:1993;171-176.
-
(1993)
Am J Cardiol
, vol.72
, pp. 171-176
-
-
Williams, R.R.1
Hunt, S.C.2
Schumacher, M.C.3
Hegele, R.A.4
Leppert, M.F.5
Ludwig, E.H.6
Hopkins, P.N.7
-
25
-
-
0032010768
-
Clinical criteria versus DNA diagnosis in heterozygous familial hypercholesterolemia
-
Schuster H., Luft F.C. Clinical criteria versus DNA diagnosis in heterozygous familial hypercholesterolemia. Arterioscler Thromb Vasc Biol. 18:1998;331-332.
-
(1998)
Arterioscler Thromb Vasc Biol
, vol.18
, pp. 331-332
-
-
Schuster, H.1
Luft, F.C.2
-
26
-
-
16944364700
-
Phenotypic variation in patients heterozygous for familial defective Apo B in three European countries
-
Hansen P.S., Defesche J.C., Kastelein J.J.P., Gerdes L.V., Fraza Z., Gerdes C. Phenotypic variation in patients heterozygous for familial defective Apo B in three European countries. Arterioscler Thromb Vasc Biol. 17:1997;741-747.
-
(1997)
Arterioscler Thromb Vasc Biol
, vol.17
, pp. 741-747
-
-
Hansen, P.S.1
Defesche, J.C.2
Kastelein, J.J.P.3
Gerdes, L.V.4
Fraza, Z.5
Gerdes, C.6
-
27
-
-
0032030919
-
Identification of the low density lipoprotein receptor binding site in apolipoprotein B100 and the modulation of its binding activity by the carboxyl terminus in familial defective apoB100
-
Boren J., Lee I., Zhu W., Arnold K., Taylor S., Innerarity T. Identification of the low density lipoprotein receptor binding site in apolipoprotein B100 and the modulation of its binding activity by the carboxyl terminus in familial defective apoB100. J Clin Invest. 101:1998;1084-1093.
-
(1998)
J Clin Invest
, vol.101
, pp. 1084-1093
-
-
Boren, J.1
Lee, I.2
Zhu, W.3
Arnold, K.4
Taylor, S.5
Innerarity, T.6
-
28
-
-
0027331369
-
Accumulation of small dense low density lipoproteins (LDL) in a homozygous patient with familial defective apolipoprotein B-100 results
-
März W., Baumstark M.W., Scharnagl H., Ruzicka V., Buxbaum S., Herwig J., Pohl T., Russ A., Schaaf L., Berg A., Böhles H.J., Usadel K.H., Gross W. Accumulation of small dense low density lipoproteins (LDL) in a homozygous patient with familial defective apolipoprotein B-100 results. J Clin Invest. 92:1993;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
-
29
-
-
0034908136
-
Hipercolesterolemia familiar
-
Aguilar-Salinas C.A. Hipercolesterolemia familiar. Rev Invest Clin. 53:2001;254-265.
-
(2001)
Rev Invest Clin
, vol.53
, pp. 254-265
-
-
Aguilar-Salinas, C.A.1
|