-
1
-
-
0022549920
-
A receptor-mediated pathway for cholesterol homeostasis
-
Brown MS, Goldstein JL A receptor-mediated pathway for cholesterol homeostasis. Science 1986; 232: 34-47.
-
(1986)
Science
, vol.232
, pp. 34-47
-
-
Brown, M.S.1
Goldstein, J.L.2
-
2
-
-
0025597137
-
The LDL receptor locus in familial hypercholesterolemia: Mutation analysis of a membrane protein
-
Hobbs H, Russel D, Brown MS, Goldstein JL. The LDL receptor locus in familial hypercholesterolemia: mutation analysis of a membrane protein. Annu Rev Genet 1990; 24: 133-170.
-
(1990)
Annu Rev Genet
, vol.24
, pp. 133-170
-
-
Hobbs, H.1
Russel, D.2
Brown, M.S.3
Goldstein, J.L.4
-
3
-
-
0030873743
-
Software and database for the analysis of mutations in the LDL receptor gene
-
Varret M, Rabès JP, Collod-Béroud G, Junien C, Boileau C, Bèroud C. Software and database for the analysis of mutations in the LDL receptor gene. Nucleic Acids Res 1997; 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
Bèroud, C.6
-
4
-
-
0027026881
-
Molecular genetics of the LDL receptor gene in familial hypercholesterolemia
-
Hobbs H, Brown MS, Golstein 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.1
Brown, M.S.2
Golstein, J.L.3
-
5
-
-
0024595101
-
Detection of polymorphism of human DNA by gel electrophoresis as single-strand conformational polymorphisms
-
Orita M, Iwahana H, Kanazawa H, Hayashi K, Sekiya T. Detection of polymorphism of human DNA by gel electrophoresis as single-strand conformational polymorphisms. Proc Natl Acad Sci USA 1989; 86: 2.766-2.770.
-
(1989)
Proc Natl Acad Sci USA
, vol.86
-
-
Orita, M.1
Iwahana, H.2
Kanazawa, H.3
Hayashi, K.4
Sekiya, T.5
-
6
-
-
0027723309
-
Changes in lipoprotein (a), LDL cholesterol and apolipoprotein B in homozygous familial hypercholesterolemic patients treated with dextran sulfate LDL-apheresis
-
Lasunción MA, Teruel JL, Álvarez JJ, Carrero P, Ortuño J, Gómez-Coronado D. Changes in lipoprotein (a), LDL cholesterol and apolipoprotein B in homozygous familial hypercholesterolemic patients treated with dextran sulfate LDL-apheresis. Eur J Clin Invest 1993; 23: 819-826.
-
(1993)
Eur J Clin Invest
, vol.23
, pp. 819-826
-
-
Lasunción, M.A.1
Teruel, J.L.2
Álvarez, J.J.3
Carrero, P.4
Ortuño, J.5
Gómez-Coronado, D.6
-
7
-
-
0026499007
-
Lipoproteína (a) en suero durante el tratamiento con aféresis de LDL en la hipercolesterolemia familiar homozigótica
-
Barc
-
Lasunción MA, Teruel JL, Álvarez JJ, Gómez-Coronado D, Ortuño J, Herrera E. Lipoproteína (a) en suero durante el tratamiento con aféresis de LDL en la hipercolesterolemia familiar homozigótica. Med Clin (Barc) 1992; 99: 541-544.
-
(1992)
Med Clin
, vol.99
, pp. 541-544
-
-
Lasunción, M.A.1
Teruel, J.L.2
Álvarez, J.J.3
Gómez-Coronado, D.4
Ortuño, J.5
Herrera, E.6
-
8
-
-
0029055583
-
Pregnancy in a patient with homozigous familial hypercholesterolemia undergoing LDL-apheresis by dextran sulphate adsorption treatment
-
Teruel JL, Lasunción MA, Navarro JF, Carrero P, Ortuño J. Pregnancy in a patient with homozigous familial hypercholesterolemia undergoing LDL-apheresis by dextran sulphate adsorption treatment. Metabolism 1995; 44: 929-933.
-
(1995)
Metabolism
, vol.44
, pp. 929-933
-
-
Teruel, J.L.1
Lasunción, M.A.2
Navarro, J.F.3
Carrero, P.4
Ortuño, J.5
-
9
-
-
0020210930
-
Ultrasensitive staining of nucleid acids with silver
-
Beidler JL, Hilliard PR, Rill RL. Ultrasensitive staining of nucleid acids with silver. Anal Biochem 1982; 126: 374-380.
-
(1982)
Anal Biochem
, vol.126
, pp. 374-380
-
-
Beidler, J.L.1
Hilliard, P.R.2
Rill, R.L.3
-
10
-
-
0026485111
-
Cycle sequencing protocol with fluorescein-12-dUTP for M13, plasmid and cosmid DNA
-
Zimmermann J, Voss H, Erfle H, Rupp T, Dietrich NA, Hewitt C et al. Cycle sequencing protocol with fluorescein-12-dUTP for M13, plasmid and cosmid DNA. Methods Mol Cell Biol 1992; 3: 146-148.
-
(1992)
Methods Mol Cell Biol
, vol.3
, pp. 146-148
-
-
Zimmermann, J.1
Voss, H.2
Erfle, H.3
Rupp, T.4
Dietrich, N.A.5
Hewitt, C.6
-
11
-
-
0027443752
-
How effective is drug therapy in heterozygous familial hypercholesterolemia
-
Illingworth DR. How effective is drug therapy in heterozygous familial hypercholesterolemia. Am J Cardiol 1993; 72: 54-58.
-
(1993)
Am J Cardiol
, vol.72
, pp. 54-58
-
-
Illingworth, D.R.1
-
12
-
-
0026549150
-
Treatment of children with homozygous familial hypercholesterolemia: Safety and efficacy of low-density lipoprotein apheresis
-
Uauy R, Zwiener RJ, Phillips MJ, Petruska ML, Bilheimer DW. Treatment of children with homozygous familial hypercholesterolemia: safety and efficacy of low-density lipoprotein apheresis. J Pediatr 1992; 120: 892-898.
-
(1992)
J Pediatr
, vol.120
, pp. 892-898
-
-
Uauy, R.1
Zwiener, R.J.2
Phillips, M.J.3
Petruska, M.L.4
Bilheimer, D.W.5
-
13
-
-
0026434367
-
Tratamiento de la hipercolesterolemia familiar homozigótica con aféresis continua de lipoproteínas de baja densidad
-
Barc
-
Teruel JL, Lasunción MA, Castañón MA, Gallego N, Herrera E, Ortuño J. Tratamiento de la hipercolesterolemia familiar homozigótica con aféresis continua de lipoproteínas de baja densidad. Med Clin (Barc) 1991; 97: 738-740.
-
(1991)
Med Clin
, vol.97
, pp. 738-740
-
-
Teruel, J.L.1
Lasunción, M.A.2
Castañón, M.A.3
Gallego, N.4
Herrera, E.5
Ortuño, J.6
-
14
-
-
0028793489
-
A pilot study of ex vivo therapy for homozygous familial hypercholesterolemia
-
Grossmann M, Rader DJ, Muller DW, Kolansky DM, Kozarsky K, Clark BJ et al. A pilot study of ex vivo therapy for homozygous familial hypercholesterolemia. Nat Med 1995; 1: 1.148-1.154.
-
(1995)
Nat Med
, vol.1
-
-
Grossmann, M.1
Rader, D.J.2
Muller, D.W.3
Kolansky, D.M.4
Kozarsky, K.5
Clark, B.J.6
-
15
-
-
0027436712
-
Therapeutic strategies for familial hypercholesterolemia based on somatic gene transfer
-
Wilson JM, Grossman M. Therapeutic strategies for familial hypercholesterolemia based on somatic gene transfer. Am J Cardiol 1993; 72: 59-63.
-
(1993)
Am J Cardiol
, vol.72
, pp. 59-63
-
-
Wilson, J.M.1
Grossman, M.2
-
16
-
-
0022259920
-
The LDL receptor gene: A mosaic of exons shared with different proteins
-
Südhof TC, Goldstein JL, Brown MS, Russell DW. The LDL receptor gene: a mosaic of exons shared with different proteins Science 1983; 228: 815-822.
-
(1983)
Science
, vol.228
, pp. 815-822
-
-
Südhof, T.C.1
Goldstein, J.L.2
Brown, M.S.3
Russell, D.W.4
-
17
-
-
0026207465
-
PCR-SSCP: A simple and sensitive method for detection of mutations in genomic DNA
-
Hayasi K. PCR-SSCP: a simple and sensitive method for detection of mutations in genomic DNA. PCR Methods Applic 1991; 1: 34-48.
-
(1991)
PCR Methods Applic
, vol.1
, pp. 34-48
-
-
Hayasi, K.1
-
18
-
-
0027434131
-
How sensitive is PCRSSCP?
-
Hayasi K, Yandell DW. How sensitive is PCRSSCP? Hum Mut 1993; 2: 338-346
-
(1993)
Hum Mut
, vol.2
, pp. 338-346
-
-
Hayasi, K.1
Yandell, D.W.2
-
19
-
-
0029792459
-
Seven DNA polymorphisms in the LDL receptor gene: Application to the study of familial hypercholesterolemia in Spain
-
Chaves JF, Puig O, Garcia-Sogo M, Real J, Gil JV, Ascaso JF et al. Seven DNA polymorphisms in the LDL receptor gene: application to the study of familial hypercholesterolemia in Spain. Clin Genet 1996; 50: 28-35.
-
(1996)
Clin Genet
, vol.50
, pp. 28-35
-
-
Chaves, J.F.1
Puig, O.2
Garcia-Sogo, M.3
Real, J.4
Gil, J.V.5
Ascaso, J.F.6
-
20
-
-
0029843183
-
A three allelic polymorphic system in exon 12 of LDL receptor gene is highly informative for segregation analysis of familial hypercholesterolemia in the Spanish population
-
Chaves JF, Puig O, Garcia-Sogo M, Real J, Armengod ME. A three allelic polymorphic system in exon 12 of LDL receptor gene is highly informative for segregation analysis of familial hypercholesterolemia in the Spanish population. Clin Genet 1996; 50: 50-53.
-
(1996)
Clin Genet
, vol.50
, pp. 50-53
-
-
Chaves, J.F.1
Puig, O.2
Garcia-Sogo, M.3
Real, J.4
Armengod, M.E.5
-
21
-
-
0028328957
-
Report on a molecular diagnostic service for familial hypercholesterolemia in Afrikaners
-
Kotze MJ, Langenhoven E, Theart L, Marx MP, Oosthuizen CJ. Report on a molecular diagnostic service for familial hypercholesterolemia in Afrikaners. Genet Couns 1994; 5: 15-21.
-
(1994)
Genet Couns
, vol.5
, pp. 15-21
-
-
Kotze, M.J.1
Langenhoven, E.2
Theart, L.3
Marx, M.P.4
Oosthuizen, C.J.5
-
22
-
-
0027437263
-
Chorionic DNA analysis for the prenatal diagnosis of familial hypercholesterolemia
-
Coviello DA, Bertolini S, Masturzo P, Ghisellini M, Tiozzo R, Zambelli F et al. Chorionic DNA analysis for the prenatal diagnosis of familial hypercholesterolemia. Hum Genet 1993; 92: 424-426.
-
(1993)
Hum Genet
, vol.92
, pp. 424-426
-
-
Coviello, D.A.1
Bertolini, S.2
Masturzo, P.3
Ghisellini, M.4
Tiozzo, R.5
Zambelli, F.6
-
23
-
-
0019734418
-
Risk assessment and health hazard appraisal
-
Vogt TM. Risk assessment and health hazard appraisal. Ann Rev Public Health 1981; 2: 31-47.
-
(1981)
Ann Rev Public Health
, vol.2
, pp. 31-47
-
-
Vogt, T.M.1
-
24
-
-
0027377974
-
Psychological and ethical considerations in screening for disease
-
Quaid KA. Psychological and ethical considerations in screening for disease. Am J Cardiol 1993; 72: 64-67.
-
(1993)
Am J Cardiol
, vol.72
, pp. 64-67
-
-
Quaid, K.A.1
-
25
-
-
2542624899
-
Terapia génica humana: Tendencias y problemas actuales
-
Barc
-
Lazo PA. Terapia génica humana: tendencias y problemas actuales. Med Clin (Barc) 1996; 106: 469-476.
-
(1996)
Med Clin
, vol.106
, pp. 469-476
-
-
Lazo, P.A.1
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