-
1
-
-
0024352311
-
Finnish type of low density lipoprotein receptor gene mutation (FH-Helsinki) deletes exons encoding the carboxyl-terminal part of the receptor and creates an internalization-defective phenotype
-
Aalto-Setala K, Helve E, Kovanen PT, Kontula K (1989) Finnish type of low density lipoprotein receptor gene mutation (FH-Helsinki) deletes exons encoding the carboxyl-terminal part of the receptor and creates an internalization-defective phenotype. J Clin Invest 84:499-505
-
(1989)
J Clin Invest
, vol.84
, pp. 499-505
-
-
Aalto-Setala, K.1
Helve, E.2
Kovanen, P.T.3
Kontula, K.4
-
2
-
-
0026542331
-
Haplotype analysis at the low density lipoprotein receptor locus: Application to the study of familial hypercholesterolemia in Israel
-
Berkman N, Weir BS, Pressman Schwartz S, Reshef A, Leitersdorf E (1992) Haplotype analysis at the low density lipoprotein receptor locus: application to the study of familial hypercholesterolemia in Israel. Hum Genet 88:405-410
-
(1992)
Hum Genet
, vol.88
, pp. 405-410
-
-
Berkman, N.1
Weir, B.S.2
Pressman Schwartz, S.3
Reshef, A.4
Leitersdorf, E.5
-
3
-
-
0017246512
-
Analysis of a mutant strain of human fibroblasts with a defect in the internalization of receptor bound low density lipoprotein
-
Brown MS, Goldstein JL (1976) Analysis of a mutant strain of human fibroblasts with a defect in the internalization of receptor bound low density lipoprotein. Cell 9:663-674
-
(1976)
Cell
, vol.9
, pp. 663-674
-
-
Brown, M.S.1
Goldstein, J.L.2
-
4
-
-
0022549920
-
A receptor-mediated pathway for cholesterol homeostasis
-
Brown MS, Goldstein JL (1986) A receptor-mediated pathway for cholesterol homeostasis. Science 232:34-47
-
(1986)
Science
, vol.232
, pp. 34-47
-
-
Brown, M.S.1
Goldstein, J.L.2
-
5
-
-
0015348189
-
Estimation of the concentration of low density lipoprotein cholesterol in plasma without use of the preparative ultracentrifuge
-
Friedewald WT, Levy RI, Fredrickson DS (1972) Estimation of the concentration of low density lipoprotein cholesterol in plasma without use of the preparative ultracentrifuge. Clin Chem 18:499-502
-
(1972)
Clin Chem
, vol.18
, pp. 499-502
-
-
Friedewald, W.T.1
Levy, R.I.2
Fredrickson, D.S.3
-
6
-
-
0027223396
-
Absence of familial defective apolipoprotein B-100 in Israeli patients with dominantly inherited hypercholesterolemia and in offspring with parental history of myocardial infarction
-
Friedlander Y, Dann EJ, Leitersdorf E (1993) Absence of familial defective apolipoprotein B-100 in Israeli patients with dominantly inherited hypercholesterolemia and in offspring with parental history of myocardial infarction. Hum Genet 91:299-300
-
(1993)
Hum Genet
, vol.91
, pp. 299-300
-
-
Friedlander, Y.1
Dann, E.J.2
Leitersdorf, E.3
-
7
-
-
0002230202
-
Familial hypercholesterolemia
-
Scriver CR, Beaudet AL, Sly WS, Valle D (eds.) McGraw-Hill, New York
-
Goldstein JL, Brown MS (1989) Familial hypercholesterolemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds.) The metabolic basis of inherited disease, 6th edn. McGraw-Hill, New York, pp 1215-1250
-
(1989)
The Metabolic Basis of Inherited Disease, 6th Edn.
, pp. 1215-1250
-
-
Goldstein, J.L.1
Brown, M.S.2
-
8
-
-
0023239477
-
Deletion in the gene for the low-density lipoprotein receptor in a majority of French Canadians with familial hypercholesterolemia
-
Hobbs HH, Brown MS, Russell DW, Davignon J, Goldstein JL (1987) Deletion in the gene for the low-density lipoprotein receptor in a majority of French Canadians with familial hypercholesterolemia. N Engl J Med 317:734-737
-
(1987)
N Engl J Med
, vol.317
, pp. 734-737
-
-
Hobbs, H.H.1
Brown, M.S.2
Russell, D.W.3
Davignon, J.4
Goldstein, J.L.5
-
9
-
-
0025597137
-
The LDL receptor locus in familial hypercholesterolemia: Mutational analysis of a membrane protein
-
Hobbs HH, Russell DW, Brown MS, Goldstein JL (1990) The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein. Annu Rev Genet 24:133-170
-
(1990)
Annu Rev Genet
, vol.24
, pp. 133-170
-
-
Hobbs, H.H.1
Russell, D.W.2
Brown, M.S.3
Goldstein, J.L.4
-
10
-
-
0027026881
-
Molecular genetics of the LDL receptor gene in familial hypercholesterolemia
-
Hobbs HH, Brown MS, Goldstein JL (1992) Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. Hum Mutat 1:445-466
-
(1992)
Hum Mutat
, vol.1
, pp. 445-466
-
-
Hobbs, H.H.1
Brown, M.S.2
Goldstein, J.L.3
-
11
-
-
0015546668
-
Experiences with the homozygous cases of familial hypercholesterolemia
-
Khachadurian AK, Uthman SB (1973) Experiences with the homozygous cases of familial hypercholesterolemia. Nutr Metabol 15:132-140
-
(1973)
Nutr Metabol
, vol.15
, pp. 132-140
-
-
Khachadurian, A.K.1
Uthman, S.B.2
-
12
-
-
0025829544
-
Single-strand conformational polymorphism for detection of mutations and base substitutions in phenylketonuria
-
Labrune P, Melle D, Rey F, Berthelon M, Caillaud C, Rey J, Munnich A, Lyonnet S (1991) Single-strand conformational polymorphism for detection of mutations and base substitutions in phenylketonuria. Am J Hum Genet 48:1115-1120
-
(1991)
Am J Hum Genet
, vol.48
, pp. 1115-1120
-
-
Labrune, P.1
Melle, D.2
Rey, F.3
Berthelon, M.4
Caillaud, C.5
Rey, J.6
Munnich, A.7
Lyonnet, S.8
-
13
-
-
0026569285
-
A nonsense mutation in the LDL receptor gene leads to familial hypercholesterolemia in the Druze sect
-
Landsberger D, Meiner V, Reshef A, Levy Y, van der Westhuyzen DR, Coetzee GA, Leitersdorf E (1992) A nonsense mutation in the LDL receptor gene leads to familial hypercholesterolemia in the Druze sect. Am J Hum Genet 50:427-433
-
(1992)
Am J Hum Genet
, vol.50
, pp. 427-433
-
-
Landsberger, D.1
Meiner, V.2
Reshef, A.3
Levy, Y.4
Van Der Westhuyzen, D.R.5
Coetzee, G.A.6
Leitersdorf, E.7
-
14
-
-
0023140956
-
The Lebanese allele at the LDL receptor gene locus: Nonsense mutation produces truncated receptor that is retained in the endoplasmic reticulum
-
Lehrman MA, Schneider WJ, Brown MS, Davis CG, Elhammer A, Russell DW, Goldstein JL (1987) The Lebanese allele at the LDL receptor gene locus: nonsense mutation produces truncated receptor that is retained in the endoplasmic reticulum. J Biol Chem 262:401-410
-
(1987)
J Biol Chem
, vol.262
, pp. 401-410
-
-
Lehrman, M.A.1
Schneider, W.J.2
Brown, M.S.3
Davis, C.G.4
Elhammer, A.5
Russell, D.W.6
Goldstein, J.L.7
-
16
-
-
0024446716
-
Two common low density lipoprotein gene mutations cause familial hypercholesterolemia in Afrikaaners
-
Leitersdorf E, Westhuyzen DR van der, Coetzee GA, Hobbs HH (1989b) Two common low density lipoprotein gene mutations cause familial hypercholesterolemia in Afrikaaners. J Clin Invest 84:954-961
-
(1989)
J Clin Invest
, vol.84
, pp. 954-961
-
-
Leitersdorf, E.1
Van Der Westhuyzen, D.R.2
Coetzee, G.A.3
Hobbs, H.H.4
-
17
-
-
0025266556
-
Common low-density lipoprotein receptor mutations in the French Canadian population
-
Leitersdorf E, Tobin EJ, Davignon J, Hobbs HH (1990) Common low-density lipoprotein receptor mutations in the French Canadian population. J Clin Invest 85:1014-1023
-
(1990)
J Clin Invest
, vol.85
, pp. 1014-1023
-
-
Leitersdorf, E.1
Tobin, E.J.2
Davignon, J.3
Hobbs, H.H.4
-
18
-
-
0027253477
-
A missense mutation in the low density lipoprotein receptor gene causes familial hypercholesterolemia in Sephardic Jews
-
Leitersdorf E, Reshef A, Meiner V, Dann EJ, Beigel Y, Roggen FG van, Westhuyzen DR van der, Coetzee GA (1993a) A missense mutation in the low density lipoprotein receptor gene causes familial hypercholesterolemia in Sephardic Jews. Hum Genet 91:141-147
-
(1993)
Hum Genet
, vol.91
, pp. 141-147
-
-
Leitersdorf, E.1
Reshef, A.2
Meiner, V.3
Dann, E.J.4
Beigel, Y.5
Van Roggen, F.G.6
Van Der Westhuyzen, D.R.7
Coetzee, G.A.8
-
19
-
-
17144447064
-
Genetic determinants of responsiveness to the HMG CoA reductase inhibitor fluvastatin in patients with molecularly defined familial hypercholesterolemia
-
Leitersdorf E, Eisenberg S, Eliav O, Friedlander Y, Berkman N, Dann EJ, Landsberger D, Sehayek E, Meiner V, Wurm M, Bard JM, Fruchart JC, Stein Y (1993b) Genetic determinants of responsiveness to the HMG CoA reductase inhibitor fluvastatin in patients with molecularly defined familial hypercholesterolemia. Circulation 87:35-44
-
(1993)
Circulation
, vol.87
, pp. 35-44
-
-
Leitersdorf, E.1
Eisenberg, S.2
Eliav, O.3
Friedlander, Y.4
Berkman, N.5
Dann, E.J.6
Landsberger, D.7
Sehayek, E.8
Meiner, V.9
Wurm, M.10
Bard, J.M.11
Fruchart, J.C.12
Stein, Y.13
-
20
-
-
0026338684
-
A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews
-
Meiner V, Landsberger D, Berkman N, Reshef A, Segal P, Seftel HC, Westhuyzen DR van der, Jeenah MS, Coetzee GA, Leitersdorf E (1991) A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews. Am J Hum Genet 49:443-449
-
(1991)
Am J Hum Genet
, vol.49
, pp. 443-449
-
-
Meiner, V.1
Landsberger, D.2
Berkman, N.3
Reshef, A.4
Segal, P.5
Seftel, H.C.6
Van Der Westhuyzen, D.R.7
Jeenah, M.S.8
Coetzee, G.A.9
Leitersdorf, E.10
-
21
-
-
0028013348
-
Premature termination codon at the sterol 27-hydroxylase gene causes cerebrotendinous xanthomatosis in an Afrikaaner family
-
Meiner V, Marais DA, Reshef A, Björkhem I, Leitersdorf E (1994) Premature termination codon at the sterol 27-hydroxylase gene causes cerebrotendinous xanthomatosis in an Afrikaaner family. Hum Mol Genet 3:193-194
-
(1994)
Hum Mol Genet
, vol.3
, pp. 193-194
-
-
Meiner, V.1
Marais, D.A.2
Reshef, A.3
Björkhem, I.4
Leitersdorf, E.5
-
22
-
-
0024558277
-
Homozygous familial hypercholesterolemia among French-Canadians in Quebec Province
-
Moorjani S, Roy M, Gagne C, Davignon J, Brun D, Toussaint M, Lambert M, Campeau L, Blaichman S, Lupien P (1989) Homozygous familial hypercholesterolemia among French-Canadians in Quebec Province. Arteriosclerosis 9:212-216
-
(1989)
Arteriosclerosis
, vol.9
, pp. 212-216
-
-
Moorjani, S.1
Roy, M.2
Gagne, C.3
Davignon, J.4
Brun, D.5
Toussaint, M.6
Lambert, M.7
Campeau, L.8
Blaichman, S.9
Lupien, P.10
-
24
-
-
0026058845
-
Hypercholesterolemia in five Israeli Christian-Arab kindreds is caused by the "Lebanese" allele at the LDL receptor gene locus as well as by an additional independent major factor
-
Oppenheim A, Friedlander Y, Dann EJ, Berkman N, Pressman Schwartz S, Leitersdorf E (1991) Hypercholesterolemia in five Israeli Christian-Arab kindreds is caused by the "Lebanese" allele at the LDL receptor gene locus as well as by an additional independent major factor. Hum Genet 88:75-84
-
(1991)
Hum Genet
, vol.88
, pp. 75-84
-
-
Oppenheim, A.1
Friedlander, Y.2
Dann, E.J.3
Berkman, N.4
Pressman Schwartz, S.5
Leitersdorf, E.6
-
25
-
-
0024756969
-
Rapid and sensitive detection of point mutations and DNA polymorphism using the polymerase chain reaction
-
Orita M, Suzuki Y, Sekiya T, Hayashi K (1989) Rapid and sensitive detection of point mutations and DNA polymorphism using the polymerase chain reaction. Genomics 5:874-879
-
(1989)
Genomics
, vol.5
, pp. 874-879
-
-
Orita, M.1
Suzuki, Y.2
Sekiya, T.3
Hayashi, K.4
-
26
-
-
0027507867
-
Cell transplantation in liver directed gene therapy
-
Raper SE, JM Wilson (1993) Cell transplantation in liver directed gene therapy. Cell Transplant 2:381-400
-
(1993)
Cell Transplant
, vol.2
, pp. 381-400
-
-
Raper, S.E.1
Wilson, J.M.2
-
27
-
-
0026575501
-
Prenatal diagnosis of familial hypercholesterolemia caused by the "Lebanese" mutation at the LDL receptor gene locus
-
Reshef A, Meiner V, Dann EJ, Granat M, Leitersdorf E (1992) Prenatal diagnosis of familial hypercholesterolemia caused by the "Lebanese" mutation at the LDL receptor gene locus. Hum Genet 89:237-239
-
(1992)
Hum Genet
, vol.89
, pp. 237-239
-
-
Reshef, A.1
Meiner, V.2
Dann, E.J.3
Granat, M.4
Leitersdorf, E.5
-
28
-
-
0023850178
-
Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase
-
Saiki RK, Gelfand DH, Stoffel S, Scharf SJ, Higuchi R, Horn GT, Mullis KB, et al (1988) Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science 239:487-491
-
(1988)
Science
, vol.239
, pp. 487-491
-
-
Saiki, R.K.1
Gelfand, D.H.2
Stoffel, S.3
Scharf, S.J.4
Higuchi, R.5
Horn, G.T.6
Mullis, K.B.7
-
29
-
-
0019190534
-
A host of hypercholesterolemic homozygotes in South Africa
-
Seftel HC, Baker SG, Sandler MP, Forman MB, Joffe BI, Mendelsohn D, Jenkins T, Mieny C (1980) A host of hypercholesterolemic homozygotes in South Africa. Br Med J 281:633-636
-
(1980)
Br Med J
, vol.281
, pp. 633-636
-
-
Seftel, H.C.1
Baker, S.G.2
Sandler, M.P.3
Forman, M.B.4
Joffe, B.I.5
Mendelsohn, D.6
Jenkins, T.7
Mieny, C.8
-
30
-
-
0022259920
-
The LDL receptor gene: A mosaic of exons shared with different proteins
-
Sudhof TC, Goldstein JL, Brown MS, Russell DW (1985) The LDL receptor gene: a mosaic of exons shared with different proteins. Science 228:815-822
-
(1985)
Science
, vol.228
, pp. 815-822
-
-
Sudhof, T.C.1
Goldstein, J.L.2
Brown, M.S.3
Russell, D.W.4
-
31
-
-
0002248873
-
-
Springer Verlag, Berlin Heidelberg
-
Williams RR, Hamilton-Craig I, Kostner GM, Hegele RA, Hayden MR, Pimstone SN, Faergeman O, Schuster H, Steinhagen-Thiessen E, Beisiegel U, Keller C, Czeizel A, Leitersdorf E, Kastelein JC, Defesche JJP, Ose L, Leren T, Seftel HC, Raal FJ, Marais AD, Eriksson M, Keller U, Miserez A, Jeck T, Betteridge DJ, Humphries SE, Day INM, Kwiterovich PO, Lees RS, Stein E, Illingworth R, Kane J, Boulyjenkov V (1996) MED PED: an integrated genetic strategy for preventing early deaths. Genetic approaches to non-communicable diseases. Springer Verlag, Berlin Heidelberg
-
(1996)
MED PED: An Integrated Genetic Strategy for Preventing Early Deaths. Genetic Approaches to Non-communicable Diseases
-
-
Williams, R.R.1
Hamilton-Craig, I.2
Kostner, G.M.3
Hegele, R.A.4
Hayden, M.R.5
Pimstone, S.N.6
Faergeman, O.7
Schuster, H.8
Steinhagen-Thiessen, E.9
Beisiegel, U.10
Keller, C.11
Czeizel, A.12
Leitersdorf, E.13
Kastelein, J.C.14
Defesche, J.J.P.15
Ose, L.16
Leren, T.17
Seftel, H.C.18
Raal, F.J.19
Marais, A.D.20
Eriksson, M.21
Keller, U.22
Miserez, A.23
Jeck, T.24
Betteridge, D.J.25
Humphries, S.E.26
Day, I.N.M.27
Kwiterovich, P.O.28
Lees, R.S.29
Stein, E.30
Illingworth, R.31
Kane, J.32
Boulyjenkov, V.33
more..
-
32
-
-
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
|