-
1
-
-
0002233688
-
Niveles de colesterol y triglicéridos y distribucion del colesterol en lipoproteinas en una poblacion laboral: Varones (I)
-
Civeira F, Pocovi M, Moreda A, Alamillo JA, Cia P, Grande F (1990) Niveles de colesterol y triglicéridos y distribucion del colesterol en lipoproteinas en una poblacion laboral: Varones (I). Clin Invest Arteriosclerosis 2:43-47
-
(1990)
Clin Invest Arteriosclerosis
, vol.2
, pp. 43-47
-
-
Civeira, F.1
Pocovi, M.2
Moreda, A.3
Alamillo, J.A.4
Cia, P.5
Grande, F.6
-
2
-
-
0028037142
-
A second locus for Marfan syndrome maps to chromosome 3p24.2-p25
-
Collod G, Babron M-C, Jondeau G, Coulon M, Weissenbach J, Dubourg O, Bourdarias J-P, et al (1994) A second locus for Marfan syndrome maps to chromosome 3p24.2-p25. Nat Genet 8:264-268
-
(1994)
Nat Genet
, vol.8
, pp. 264-268
-
-
Collod, G.1
Babron, M.-C.2
Jondeau, G.3
Coulon, M.4
Weissenbach, J.5
Dubourg, O.6
Bourdarias, J.-P.7
-
3
-
-
13344259999
-
The Généthon human genetic linkage map
-
Dib C, Fauré S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, et al (1996) The Généthon human genetic linkage map. Nature 380:152-154
-
(1996)
Nature
, vol.380
, pp. 152-154
-
-
Dib, C.1
Fauré, S.2
Fizames, C.3
Samson, D.4
Drouot, N.5
Vignal, A.6
Millasseau, P.7
-
4
-
-
0023205323
-
Exclusion mapping
-
Edwards J (1987) Exclusion mapping. J Med Genet 24:539-543
-
(1987)
J Med Genet
, vol.24
, pp. 539-543
-
-
Edwards, J.1
-
5
-
-
0016241915
-
Binding and degradation of low density lipoproteins by cultured human fibroblasts: Comparison of cells from a normal subject and from a patient with homozygous familial hypercholesterolemia
-
Goldstein J, Brown M (1974) Binding and degradation of low density lipoproteins by cultured human fibroblasts: comparison of cells from a normal subject and from a patient with homozygous familial hypercholesterolemia. J Biol Chem 249:5153-5162
-
(1974)
J Biol Chem
, vol.249
, pp. 5153-5162
-
-
Goldstein, J.1
Brown, M.2
-
6
-
-
0002230202
-
Familial hypercholesterolemia
-
Scriver C, Beaudet A, Sly W (eds). McGraw-Hill, New York
-
-(1989) Familial hypercholesterolemia. In: Scriver C, Beaudet A, Sly W (eds) The metabolic basis of inherited diseases, 6th ed. McGraw-Hill, New York, pp 1215-1250
-
(1989)
The Metabolic Basis of Inherited Diseases, 6th Ed.
, pp. 1215-1250
-
-
-
7
-
-
0028091522
-
Influence of apolipoprotein E genotype on senile dementia of the Alzheimer and Lewy body types
-
Harrington CR, Louwagie J, Rossau R, Vanmechelen E, Perry RH, Perry EK, Xuereb JH, et al (1994) Influence of apolipoprotein E genotype on senile dementia of the Alzheimer and Lewy body types. Am J Pathol 145:1472-1484
-
(1994)
Am J Pathol
, vol.145
, pp. 1472-1484
-
-
Harrington, C.R.1
Louwagie, J.2
Rossau, R.3
Vanmechelen, E.4
Perry, R.H.5
Perry, E.K.6
Xuereb, J.H.7
-
8
-
-
0025939752
-
cDNAs encoding members of a family of proteins related to human sterol carrier protein 2 and assignment of the gene to human chromosome 1p21-pter
-
He Z, Yamamoto R, Furth EE, Schantz LJ, Naylor SL, George H, Billheimer JT, et al (1991) cDNAs encoding members of a family of proteins related to human sterol carrier protein 2 and assignment of the gene to human chromosome 1p21-pter. DNA Cell Biol 10:559-569
-
(1991)
DNA Cell Biol
, vol.10
, pp. 559-569
-
-
He, Z.1
Yamamoto, R.2
Furth, E.E.3
Schantz, L.J.4
Naylor, S.L.5
George, H.6
Billheimer, J.T.7
-
9
-
-
0011723065
-
Familial defective apolipoprotein B-100: Low density lipoproteins with abnormal receptor binding
-
Innerarity T, Weisgraber K, Arnold K, Mahley R, Krauss R, Vega G, Grundy S (1987) Familial defective apolipoprotein B-100: low density lipoproteins with abnormal receptor binding. Proc Nat Acad Sci USA 84:6919-6923
-
(1987)
Proc Nat Acad Sci USA
, vol.84
, pp. 6919-6923
-
-
Innerarity, T.1
Weisgraber, K.2
Arnold, K.3
Mahley, R.4
Krauss, R.5
Vega, G.6
Grundy, S.7
-
10
-
-
0030968647
-
Exon/intron organization, chromosome localization, alternative splicing, and transcription units of the human apolipoprotein E receptor 2 gene
-
Kim D-H, Magoori K, Inoue TR, Mao CC, Kim H-J, Suzuki H, Fujitas T, et al (1997) Exon/intron organization, chromosome localization, alternative splicing, and transcription units of the human apolipoprotein E receptor 2 gene. J Biol Chem 272:8498-8504
-
(1997)
J Biol Chem
, vol.272
, pp. 8498-8504
-
-
Kim, D.-H.1
Magoori, K.2
Inoue, T.R.3
Mao, C.C.4
Kim, H.-J.5
Suzuki, H.6
Fujitas, T.7
-
11
-
-
0030728925
-
Allele-sharing models: LOD scores and accurate linkage tests
-
Kong A, Cox NJ (1997) Allele-sharing models: LOD scores and accurate linkage tests. Am J Hum Genet 61:1179-1188
-
(1997)
Am J Hum Genet
, vol.61
, pp. 1179-1188
-
-
Kong, A.1
Cox, N.J.2
-
13
-
-
0022330613
-
Human apolipoprotein B-100: Cloning, analysis of liver mRNA, and assignment of the gene to chromosome 2
-
Law S, Lackner KJ, Hspattankar AV, Anchors JM, Sakaguchi AY, Naylor SL, Brewer HB (1985) Human apolipoprotein B-100: cloning, analysis of liver mRNA, and assignment of the gene to chromosome 2. Proc Nat Acad Sci USA 82:8340-8344
-
(1985)
Proc Nat Acad Sci USA
, vol.82
, pp. 8340-8344
-
-
Law, S.1
Lackner, K.J.2
Hspattankar, A.V.3
Anchors, J.M.4
Sakaguchi, A.Y.5
Naylor, S.L.6
Brewer, H.B.7
-
14
-
-
0028268993
-
Evidence of non-deficient low-density lipoprotein receptor patients in a pool of subjects with clinical familial hypercholesterolemia profile
-
Lestavel-Delattre S, Benhamamouch S, Agnani G, Luc G, Bard J, Brousseau T, Billardon C, et al (1994) Evidence of non-deficient low-density lipoprotein receptor patients in a pool of subjects with clinical familial hypercholesterolemia profile. Metabolism 43:397-402
-
(1994)
Metabolism
, vol.43
, pp. 397-402
-
-
Lestavel-Delattre, S.1
Benhamamouch, S.2
Agnani, G.3
Luc, G.4
Bard, J.5
Brousseau, T.6
Billardon, C.7
-
15
-
-
0344507606
-
Human genes involved in cholesterol metabolism: Chromosomal mapping of the loci for the low density lipoprotein receptor and 3-hydroxy-3-methylglutaryl-coenzyme A reductase with cDNA probes
-
Lindgren V, Luskey KL, Russell DW, Francke U (1985) Human genes involved in cholesterol metabolism: chromosomal mapping of the loci for the low density lipoprotein receptor and 3-hydroxy-3-methylglutaryl-coenzyme A reductase with cDNA probes. Proc Nat Acad Sci USA 82:8567-8571
-
(1985)
Proc Nat Acad Sci USA
, vol.82
, pp. 8567-8571
-
-
Lindgren, V.1
Luskey, K.L.2
Russell, D.W.3
Francke, U.4
-
16
-
-
0025348380
-
Low density lipoprotein metabolism and receptor studies in a patient with pseudohomozygous familial hypercholesterolemia
-
Masana L, Joven J, Rubiés-Prat J, Lewis B (1990) Low density lipoprotein metabolism and receptor studies in a patient with pseudohomozygous familial hypercholesterolemia. Acta Paediatr 79:475-476
-
(1990)
Acta Paediatr
, vol.79
, pp. 475-476
-
-
Masana, L.1
Joven, J.2
Rubiés-Prat, J.3
Lewis, B.4
-
17
-
-
0029094386
-
Differences in the phenotypic characteristics of subjects with familial defective apolipoprotein B-100 and familial hypercholesterolemia
-
Miserez AR, Keller U (1995) Differences in the phenotypic characteristics of subjects with familial defective apolipoprotein B-100 and familial hypercholesterolemia. Arterioscler Thromb Vasc Biol 15:1719-1729
-
(1995)
Arterioscler Thromb Vasc Biol
, vol.15
, pp. 1719-1729
-
-
Miserez, A.R.1
Keller, U.2
-
18
-
-
0002233690
-
Niveles de colesterol y triglicéridos y distribucion del colesterol en lipoproteinas en una poblacion laboral: Mujeres (II)
-
Moreda A, Alamillo JA, Pocovi M, Civeira F, Blasco M, Ordovas JM (1990) Niveles de colesterol y triglicéridos y distribucion del colesterol en lipoproteinas en una poblacion laboral: mujeres (II). Clin Invest Arteriosclerosis 2:48-54
-
(1990)
Clin Invest Arteriosclerosis
, vol.2
, pp. 48-54
-
-
Moreda, A.1
Alamillo, J.A.2
Pocovi, M.3
Civeira, F.4
Blasco, M.5
Ordovas, J.M.6
-
19
-
-
0031879764
-
Mutation screening of the LDLR gene and APOB gene in patients with a phenotype of familial hypercholesterolemia and normal values in a functional LDL receptor/apolipoprotein B assay
-
Nissen H, Lestavel S, Hansen TS, Luc G, Bruckert E, Clavey V (1998) Mutation screening of the LDLR gene and APOB gene in patients with a phenotype of familial hypercholesterolemia and normal values in a functional LDL receptor/apolipoprotein B assay. Clin Genet 54:79-82
-
(1998)
Clin Genet
, vol.54
, pp. 79-82
-
-
Nissen, H.1
Lestavel, S.2
Hansen, T.S.3
Luc, G.4
Bruckert, E.5
Clavey, V.6
-
20
-
-
0028790963
-
The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set-recording and fuzzy inheritance
-
O'Connell JR, Weeks DE (1995) The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set-recording and fuzzy inheritance. Nat Genet 11:402-408
-
(1995)
Nat Genet
, vol.11
, pp. 402-408
-
-
O'Connell, J.R.1
Weeks, D.E.2
-
21
-
-
0028609162
-
The structure of the human sterol carrier protein X/sterol carrier protein 2 gene (SCP2)
-
Ohba T, Rennert H, Pfeifer SM, He Z, Yamamoto R, Holt JA, Billheimer JT, et al (1994) The structure of the human sterol carrier protein X/sterol carrier protein 2 gene (SCP2). Genomics 24:370-374
-
(1994)
Genomics
, vol.24
, pp. 370-374
-
-
Ohba, T.1
Rennert, H.2
Pfeifer, S.M.3
He, Z.4
Yamamoto, R.5
Holt, J.A.6
Billheimer, J.T.7
-
22
-
-
0021064786
-
Linkage analysis and family classification under heterogeneity
-
Ott J (1983) Linkage analysis and family classification under heterogeneity. Ann Hum Genet 47:311-320
-
(1983)
Ann Hum Genet
, vol.47
, pp. 311-320
-
-
Ott, J.1
-
23
-
-
0003408936
-
-
The Johns Hopkins University Press, Baltimore and London
-
-(1991) Analysis of human genetic linkage, revised ed. The Johns Hopkins University Press, Baltimore and London
-
(1991)
Analysis of Human Genetic Linkage, Revised Ed.
-
-
-
24
-
-
0031918837
-
Linkage of familial combined hyperlipidaemia to chromosome 1q21-q23
-
Pajukanta P, Nuotio I, Terwilliger JD, Porkka KVK, Ylitalo K, Pihlajamäki J, Suomalainen A, et al (1998) Linkage of familial combined hyperlipidaemia to chromosome 1q21-q23. Nat Genet 18:369-373
-
(1998)
Nat Genet
, vol.18
, pp. 369-373
-
-
Pajukanta, P.1
Nuotio, I.2
Terwilliger, J.D.3
Porkka, K.V.K.4
Ylitalo, K.5
Pihlajamäki, J.6
Suomalainen, A.7
-
25
-
-
0029896288
-
The human mammary-derived growth inhibitor (MDGI) gene: Genomic structure and mutation analysis in human breast tumors
-
Phelan CM, Larsson C, Baird S, Futreal AP, Ruttledge MH, Morgan K, Tonin P, et al (1996) The human mammary-derived growth inhibitor (MDGI) gene: genomic structure and mutation analysis in human breast tumors. Genomics 34:63-68
-
(1996)
Genomics
, vol.34
, pp. 63-68
-
-
Phelan, C.M.1
Larsson, C.2
Baird, S.3
Futreal, A.P.4
Ruttledge, M.H.5
Morgan, K.6
Tonin, P.7
-
26
-
-
0030725327
-
L'hypercholestérolémie familiale 25 ans après Brown et Goldstein II: Défauts du gène APOB, défauts combinés et autres gènes impliqués
-
Rabès JP, Varret M, Boileau C (1997) L'hypercholestérolémie Familiale 25 ans après Brown et Goldstein II: défauts du gène APOB, défauts combinés et autres gènes impliqués. Médecine Sciences 12:1409-1418
-
(1997)
Médecine Sciences
, vol.12
, pp. 1409-1418
-
-
Rabès, J.P.1
Varret, M.2
Boileau, C.3
-
27
-
-
0028240980
-
Chromosome-specific microsatellite sets for fluorescent-based, semi-automated genome mapping
-
Reed PW, Davies JL, Copemann JB, Bennett ST, Palmer SM, Pritchard LE, Gough SCL, et al (1994) Chromosome-specific microsatellite sets for fluorescent-based, semi-automated genome mapping. Nat Genet 7:390-395
-
(1994)
Nat Genet
, vol.7
, pp. 390-395
-
-
Reed, P.W.1
Davies, J.L.2
Copemann, J.B.3
Bennett, S.T.4
Palmer, S.M.5
Pritchard, L.E.6
Gough, S.C.L.7
-
28
-
-
0001899031
-
Cholestérol total
-
Siest G, Henny J, Schiele F (eds). Elsevier, Paris
-
Steinmetz J (1990) Cholestérol total. In: Siest G, Henny J, Schiele F (eds) Références en biologie clinique. Elsevier, Paris, pp 190-209
-
(1990)
Références en Biologie Clinique
, pp. 190-209
-
-
Steinmetz, J.1
-
29
-
-
0031443429
-
Comparison of the genetic defect with LDL-receptor activity in cultured cells from patients with a clinical diagnosis of heterozygous familial hypercholesterolemia
-
Sun X-M, Patel DD, Knight BL, Soutar AK, The FH Regression Study Group (1997) Comparison of the genetic defect with LDL-receptor activity in cultured cells from patients with a clinical diagnosis of heterozygous familial hypercholesterolemia. Arterioscler Thromb Vasc Biol 17:3092-3101
-
(1997)
Arterioscler Thromb Vasc Biol
, vol.17
, pp. 3092-3101
-
-
Sun, X.-M.1
Patel, D.D.2
Knight, B.L.3
Soutar, A.K.4
-
30
-
-
0030659002
-
L'hypercholestérolémie familiale 25 ans après Brown et Goldstein I: Le point sur la maladie du gène du récepteur LDL, ses modèles animaux et sa thérapie génique
-
Varret M, Rabès JP, Boileau C (1997a) L'hypercholestérolémie familiale 25 ans après Brown et Goldstein I: le point sur la maladie du gène du récepteur LDL, ses modèles animaux et sa thérapie génique. Médecine Sciences 12:1399-1408
-
(1997)
Médecine Sciences
, vol.12
, pp. 1399-1408
-
-
Varret, M.1
Rabès, J.P.2
Boileau, C.3
-
31
-
-
0030873743
-
Software and database for the analysis of mutations in the human LDL receptor gene
-
Varret M, Rabès JP, Collod-Béroud G, Junien C, Boileau C, Béroud C (1997b) Software and database for the analysis of mutations in the human LDL receptor gene. Nucleic Acids Res 25:172-180
-
(1997)
Nucleic Acids Res
, vol.25
, pp. 172-180
-
-
Varret, M.1
Rabès, J.P.2
Collod-Béroud, G.3
Junien, C.4
Boileau, C.5
Béroud, C.6
-
32
-
-
0031833042
-
LDLR database, 2d ed. New additions to the database and the software, and results of the first molecular analysis
-
Varret M, Rabès JP, Thiart R, Kotze MJ, Baron H, Cenarro A, Descamps O, et al (1998) LDLR database, 2d ed. New additions to the database and the software, and results of the first molecular analysis. Nucleic Acids Res 26:248-252
-
(1998)
Nucleic Acids Res
, vol.26
, pp. 248-252
-
-
Varret, M.1
Rabès, J.P.2
Thiart, R.3
Kotze, M.J.4
Baron, H.5
Cenarro, A.6
Descamps, O.7
-
33
-
-
0027449252
-
Documented need for more effective diagnosis and treatment of familial hypercholesterolemia according to data from 502 heterozygotes in Utah
-
Williams RR, Schumacher MC, Barlow GK, Hunt SC, Ware JL, Pratt M, Latham BD (1993) Documented need for more effective diagnosis and treatment of familial hypercholesterolemia according to data from 502 heterozygotes in Utah. Am J Cardiol 72:180-240
-
(1993)
Am J Cardiol
, vol.72
, pp. 180-240
-
-
Williams, R.R.1
Schumacher, M.C.2
Barlow, G.K.3
Hunt, S.C.4
Ware, J.L.5
Pratt, M.6
Latham, B.D.7
-
34
-
-
0025970749
-
Familial combined hyperlipidemia is linked to the apolipoprotein AI-CIII-AIV gene cluster on chromosome 11q23-q24
-
Wojciechowski AP, Farral M, Cullen P, Wilson TME, Bayliss JD, Farren B, Griffin BA, et al (1991) Familial combined hyperlipidemia is linked to the apolipoprotein AI-CIII-AIV gene cluster on chromosome 11q23-q24. Nature 349:161-164
-
(1991)
Nature
, vol.349
, pp. 161-164
-
-
Wojciechowski, A.P.1
Farral, M.2
Cullen, P.3
Wilson, T.M.E.4
Bayliss, J.D.5
Farren, B.6
Griffin, B.A.7
-
35
-
-
0028318695
-
The human EPS15 gene, encoding a tyrosine kinase substrate, is conserved in evolution and maps to 1p31-p32
-
Wong WT, Kraus MH, Carlomagno F, Zelano A, Druck T, Croce CM, Huebner K, et al (1994) The human EPS15 gene, encoding a tyrosine kinase substrate, is conserved in evolution and maps to 1p31-p32. Oncogene 9:1591-1597
-
(1994)
Oncogene
, vol.9
, pp. 1591-1597
-
-
Wong, W.T.1
Kraus, M.H.2
Carlomagno, F.3
Zelano, A.4
Druck, T.5
Croce, C.M.6
Huebner, K.7
-
36
-
-
0021742599
-
The human LDL receptor: A cysteine-rich protein with multiple Alu sequences in its mRNA
-
Yamamoto T, Davis CG, Brown MS, Schneider WJ, Casey ML, Goldstein JL, Russell DW (1984) The human LDL receptor: a cysteine-rich protein with multiple Alu sequences in its mRNA. Cell 39:27-38
-
(1984)
Cell
, vol.39
, pp. 27-38
-
-
Yamamoto, T.1
Davis, C.G.2
Brown, M.S.3
Schneider, W.J.4
Casey, M.L.5
Goldstein, J.L.6
Russell, D.W.7
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