-
1
-
-
0018676436
-
Fish-eye disease: A new familial condition with massive corneal opacities and dyslipoproteinemia
-
Carlson LA, Philipson B. Fish-eye disease: a new familial condition with massive corneal opacities and dyslipoproteinemia. Lancet. 1979;2:921-923.
-
(1979)
Lancet
, vol.2
, pp. 921-923
-
-
Carlson, L.A.1
Philipson, B.2
-
2
-
-
0026542767
-
An amino acid exchange in exon I of the human lecithin:cholesterol acyltransferase (LCAT) gene is associated with fish eye disease
-
Skretting G, Prydz H. An amino acid exchange in exon I of the human lecithin:cholesterol acyltransferase (LCAT) gene is associated with fish eye disease. Biochem Biophys Res Commun. 1992;182:583-587.
-
(1992)
Biochem Biophys Res Commun.
, vol.182
, pp. 583-587
-
-
Skretting, G.1
Prydz, H.2
-
3
-
-
0026506761
-
Two different allelic mutations in the lecithin-cholesterol acyltransferase gene associated with the fish eye syndrome: Lecithin-cholesterol acyltransferase (Thr-123-Ile) and lecithin-cholesterol acyltransferase (Thr-347-Met)
-
Klein HG, Lohse P, Pritchard PH, Bojanovski D, Schmidt H, Brewer HB Jr. Two different allelic mutations in the lecithin-cholesterol acyltransferase gene associated with the fish eye syndrome: lecithin-cholesterol acyltransferase (Thr-123-Ile) and lecithin-cholesterol acyltransferase (Thr-347-Met). J Clin Invest. 1992;89:499-506.
-
(1992)
J Clin Invest
, vol.89
, pp. 499-506
-
-
Klein, H.G.1
Lohse, P.2
Pritchard, P.H.3
Bojanovski, D.4
Schmidt, H.5
Brewer Jr., H.B.6
-
4
-
-
0027290413
-
Fish eye syndrome: A molecular defect in the lecithin-cholesterol acyltransferase (LCAT) gene associated with normal alpha-LCAT-specific activity - Implications for classification and prognosis
-
Klein HG, Santamarina-Fojo S, Duverger N, Clerc M, Dumon MF, Albers JJ, Marcovina S, Brewer HB Jr. Fish eye syndrome: a molecular defect in the lecithin-cholesterol acyltransferase (LCAT) gene associated with normal alpha-LCAT-specific activity - implications for classification and prognosis. J Clin Invest. 1993;92:479-485.
-
(1993)
J Clin Invest.
, vol.92
, pp. 479-485
-
-
Klein, H.G.1
Santamarina-Fojo, S.2
Duverger, N.3
Clerc, M.4
Dumon, M.F.5
Albers, J.J.6
Marcovina, S.7
Brewer Jr., H.B.8
-
5
-
-
0025819206
-
A molecular defect causing fish eye disease: An amino acid exchange in lecithin-cholesterol acyltrans- Ferase (LCAT) leads to the selective loss of alpha-LCAT activity
-
Funke H, von Eckardstein A, Pritchard PH, Albers JJ, Kastelein JJP, Droste C, Assmann G. A molecular defect causing fish eye disease: an amino acid exchange in lecithin-cholesterol acyltrans- ferase (LCAT) leads to the selective loss of alpha-LCAT activity. Proc Natl Acad Sci U S A. 1991;88:4855-4859.
-
(1991)
Proc Natl Acad Sci U S A
, vol.88
, pp. 4855-4859
-
-
Funke, H.1
Von Eckardstein, A.2
Pritchard, P.H.3
Albers, J.J.4
Kastelein, J.J.P.5
Droste, C.6
Assmann, G.7
-
6
-
-
9044253181
-
Fish-eye disease: Characterization of the molecular defect
-
Abstract
-
Von Eckardstein A, Funke H, Pritchard PH, Albers JJ, Kastelein JJP, Droste C, Assmann G. Fish-eye disease: characterization of the molecular defect. Circulation. 1990;82:425. Abstract.
-
(1990)
Circulation
, vol.82
, pp. 425
-
-
Von Eckardstein, A.1
Funke, H.2
Pritchard, P.H.3
Albers, J.J.4
Kastelein, J.J.P.5
Droste, C.6
Assmann, G.7
-
7
-
-
0027458576
-
Genetic and phenotypic heterogeneity in familial lecithin:cholesterol acyltransferase (LCAT) deficiency: Six newly identified defective alleles further contribute to the structural heterogeneity in this disease
-
Funke H, von Eckardstein A, Pritchard PH, Hornby AE, Wiebusch H, Motti C, Hayden MR, Dachet C, Jacotot B, Gerdes U, Faergeman O, Albers JJ, Colleoni N, Catapano A, Frohlich J, Assmann G. Genetic and phenotypic heterogeneity in familial lecithin:cholesterol acyltransferase (LCAT) deficiency: six newly identified defective alleles further contribute to the structural heterogeneity in this disease. J Clin Invest. 1993;91:677-683.
-
(1993)
J Clin Invest
, vol.91
, pp. 677-683
-
-
Funke, H.1
Von Eckardstein, A.2
Pritchard, P.H.3
Hornby, A.E.4
Wiebusch, H.5
Motti, C.6
Hayden, M.R.7
Dachet, C.8
Jacotot, B.9
Gerdes, U.10
Faergeman, O.11
Albers, J.J.12
Colleoni, N.13
Catapano, A.14
Frohlich, J.15
Assmann, G.16
-
8
-
-
0027464242
-
Two different allelic mutations in the lecithin:cholesterol acyltransferase (LCAT) gene resulting in classic LCAT deficiency: LCAT (tyr83 to stop) and LCAT (tyr156 to asn)
-
Klein HG, Lohse P, Duverger N, Albers JJ, Rader DJ, Zech LA, Santamarina-Fojo S, Brewer HB Jr. Two different allelic mutations in the lecithin:cholesterol acyltransferase (LCAT) gene resulting in classic LCAT deficiency: LCAT (tyr83 to stop) and LCAT (tyr156 to asn). J Lipid Res. 1993;34:49-58.
-
(1993)
J Lipid Res
, vol.34
, pp. 49-58
-
-
Klein, H.G.1
Lohse, P.2
Duverger, N.3
Albers, J.J.4
Rader, D.J.5
Zech, L.A.6
Santamarina-Fojo, S.7
Brewer Jr., H.B.8
-
9
-
-
0026315409
-
Molecular defect in familial lecithin:cholesterol acyltransferase (LCAT) deficiency: A single nucleotide insertion in LCAT gene causes a complete deficient type of the disease
-
Bujo H, Kusunoki J, Ogasawara M, Yamamoto T, Ohta Y, Shimada T, Saito Y, Yoshida S. Molecular defect in familial lecithin:cholesterol acyltransferase (LCAT) deficiency: a single nucleotide insertion in LCAT gene causes a complete deficient type of the disease. Biochem Biophys Res Commun. 1991;181:933-940.
-
(1991)
Biochem Biophys Res Commun
, vol.181
, pp. 933-940
-
-
Bujo, H.1
Kusunoki, J.2
Ogasawara, M.3
Yamamoto, T.4
Ohta, Y.5
Shimada, T.6
Saito, Y.7
Yoshida, S.8
-
10
-
-
0025340464
-
Lecithin cholesterol acyltransferase deficiency: Molecular analysis of a mutated allele
-
Taramelli R, Pontoglio M, Candiani G, Ottolenghi S, Dieplinger H, Catapano A, Albers J, Vergani C, McLean J. Lecithin cholesterol acyltransferase deficiency: molecular analysis of a mutated allele. Hum Genet. 1990;85:195-199.
-
(1990)
Hum Genet
, vol.85
, pp. 195-199
-
-
Taramelli, R.1
Pontoglio, M.2
Candiani, G.3
Ottolenghi, S.4
Dieplinger, H.5
Catapano, A.6
Albers, J.7
Vergani, C.8
McLean, J.9
-
11
-
-
0025786952
-
Differential phenotypic expression by three mutant alleles in familial lecithin:cholesterol acyltransferase deficiency
-
Gotoda T, Yamada N, Murase T, Sakuma M, Murayama N, Shimano H, Kozaki K, Albers JJ, Yazaki Y, Akanuma Y. Differential phenotypic expression by three mutant alleles in familial lecithin:cholesterol acyltransferase deficiency. Lancet. 1991;338:778-781.
-
(1991)
Lancet
, vol.338
, pp. 778-781
-
-
Gotoda, T.1
Yamada, N.2
Murase, T.3
Sakuma, M.4
Murayama, N.5
Shimano, H.6
Kozaki, K.7
Albers, J.J.8
Yazaki, Y.9
Akanuma, Y.10
-
12
-
-
0026324813
-
Lecithin-cholesterol acyltransferase (LCAT) deficiency with a missense mutation in exon 6 of the LCAT gene
-
Maeda E, Naka Y, Matozaki T, Sakuma M, Akanuma Y, Yoshino G, Kasuga M. Lecithin-cholesterol acyltransferase (LCAT) deficiency with a missense mutation in exon 6 of the LCAT gene. Biochem Biophys Res Commun. 1991;178:460-466.
-
(1991)
Biochem Biophys Res Commun
, vol.178
, pp. 460-466
-
-
Maeda, E.1
Naka, Y.2
Matozaki, T.3
Sakuma, M.4
Akanuma, Y.5
Yoshino, G.6
Kasuga, M.7
-
13
-
-
0025734840
-
Lecithin:cholesterol acyltransferase deficiency and fish-eye disease
-
Assmann G, von Eckardstein A, Funke H. Lecithin:cholesterol acyltransferase deficiency and fish-eye disease. Curr Opin Lipidol. 1991;2:110-117.
-
(1991)
Curr Opin Lipidol
, vol.2
, pp. 110-117
-
-
Assmann, G.1
Von Eckardstein, A.2
Funke, H.3
-
14
-
-
0016700864
-
Detection of specific sequences among DNA fragments separated by gel electrophoresis
-
Southern EM. Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol. 1975;98:503-517.
-
(1975)
J Mol Biol
, vol.98
, pp. 503-517
-
-
Southern, E.M.1
-
15
-
-
0023227643
-
DNA polymorphisms in and around the APO-AI-CIII genes and genetic hyperlipidemia
-
Hayden MR, Kirk H, Clark C, Frohlich J, Rabkin S, MacLeod R, Hewitt J. DNA polymorphisms in and around the APO-AI-CIII genes and genetic hyperlipidemia. Am J Hum Genet. 1987;40:421-430.
-
(1987)
Am J Hum Genet
, vol.40
, pp. 421-430
-
-
Hayden, M.R.1
Kirk, H.2
Clark, C.3
Frohlich, J.4
Rabkin, S.5
MacLeod, R.6
Hewitt, J.7
-
16
-
-
0019174316
-
A study of the use of polyethylene glycol in estimating cholesterol in high density lipoprotein
-
Demacker PNM, Hijmans AG, Vos-Janssen HE, Van 't Laar A, Jansen AP. A study of the use of polyethylene glycol in estimating cholesterol in high density lipoprotein. Clin Chem. 1980;26:1775-1779.
-
(1980)
Clin Chem
, vol.26
, pp. 1775-1779
-
-
Demacker, P.N.M.1
Hijmans, A.G.2
Vos-Janssen, H.E.3
Van 't Laar, A.4
Jansen, A.P.5
-
18
-
-
0020577113
-
Ultracentrifugation in swinging-bucket and fixed-angle rotors evaluated for isolation and determination of high-density lipoprotein subfraction HDL2 and HDL3
-
Demacker PNM, van Sommeren-Zondag DF, Stalenhoef AFH, Stuyt PMJ, van 't Laar A. Ultracentrifugation in swinging-bucket and fixed-angle rotors evaluated for isolation and determination of high-density lipoprotein subfraction HDL2 and HDL3. Clin Chem. 1983;29:656-663.
-
(1983)
Clin Chem
, vol.29
, pp. 656-663
-
-
Demacker, P.N.M.1
Van Sommeren-Zondag, D.F.2
Stalenhoef, A.F.H.3
Stuyt, P.M.J.4
Van 't Laar, A.5
-
19
-
-
0024989085
-
Differential electroimmunoassay of human LpA-I lipoprotein particles on ready-to-use plates
-
Parra HJ, Mezdour H, Ghalim N, Bard JM, Fruchart JC. Differential electroimmunoassay of human LpA-I lipoprotein particles on ready-to-use plates. Clin Chem. 1990;36:1431-1435.
-
(1990)
Clin Chem
, vol.36
, pp. 1431-1435
-
-
Parra, H.J.1
Mezdour, H.2
Ghalim, N.3
Bard, J.M.4
Fruchart, J.C.5
-
20
-
-
0023858297
-
Plasma lipoprotein abnormalities in heterozygotes for familial lecithin:cholesterol acyltransferase deficiency
-
Frohlich J, McLeod R, Pritchard PH, Fesmire J, McConathy W. Plasma lipoprotein abnormalities in heterozygotes for familial lecithin:cholesterol acyltransferase deficiency. Metabolism. 1988;37:3-8.
-
(1988)
Metabolism
, vol.37
, pp. 3-8
-
-
Frohlich, J.1
McLeod, R.2
Pritchard, P.H.3
Fesmire, J.4
McConathy, W.5
-
21
-
-
0019475445
-
Radioimmunoassay of human lecithin-cholesterol acyltransferase
-
Albers JJ, Adolphson JC, Chen CH. Radioimmunoassay of human lecithin-cholesterol acyltransferase. J Clin Invest. 1981;67:141-148.
-
(1981)
J Clin Invest
, vol.67
, pp. 141-148
-
-
Albers, J.J.1
Adolphson, J.C.2
Chen, C.H.3
-
22
-
-
0022484967
-
Cold labelled substrate and estimation of cholesterol esterification rate in lecithin cholesterol acyltransferase radioassay
-
Dobiasova M, Schutzova M. Cold labelled substrate and estimation of cholesterol esterification rate in lecithin cholesterol acyltransferase radioassay. Physiol Bohemoslov. 1986;35:319-327.
-
(1986)
Physiol Bohemoslov
, vol.35
, pp. 319-327
-
-
Dobiasova, M.1
Schutzova, M.2
-
23
-
-
0022396983
-
Comparison of improved precipitation methods for quantification of high-density lipoprotein cholesterol
-
Warnick GR, Nguyen T, Albers AA. Comparison of improved precipitation methods for quantification of high-density lipoprotein cholesterol. Clin Chem. 1985;31:217-222.
-
(1985)
Clin Chem
, vol.31
, pp. 217-222
-
-
Warnick, G.R.1
Nguyen, T.2
Albers, A.A.3
-
24
-
-
0014876627
-
Rapid method for the isolation of lipoproteins from human serum by precipitation with polyanions
-
Burnstein M, Scholnick HR, Morfin R. Rapid method for the isolation of lipoproteins from human serum by precipitation with polyanions. J Lipid Res. 1970;11:583-595.
-
(1970)
J Lipid Res
, vol.11
, pp. 583-595
-
-
Burnstein, M.1
Scholnick, H.R.2
Morfin, R.3
-
26
-
-
0027276336
-
Expression and characterization of recombinant human lectithin: Cholesterol acyltransferase
-
Hill JS, O K, Wang X, Paranjape S, Dimitrijevich D, Lacko AG, Pritchard PH. Expression and characterization of recombinant human lectithin: cholesterol acyltransferase. J Lipid Res. 1993;34:1245-1251.
-
(1993)
J Lipid Res
, vol.34
, pp. 1245-1251
-
-
Hill, J.S.1
Kll, O.2
Wang, X.3
Paranjape, S.4
Dimitrijevich, D.5
Lacko, A.G.6
Pritchard, P.H.7
-
27
-
-
0027390118
-
Recombinant lecithin:cholesterol acyltransferase containing a Thr123 to Ile mutation esterifies cholesterol in low density lipoprotein but not in high density lipoprotein
-
O K, Hill JS, Wang X, Pritchard PH. Recombinant lecithin:cholesterol acyltransferase containing a Thr123 to Ile mutation esterifies cholesterol in low density lipoprotein but not in high density lipoprotein. J Lipid Res. 1993;34:81-88.
-
(1993)
J Lipid Res
, vol.34
, pp. 81-88
-
-
Kll, O.1
Hill, J.S.2
Wang, X.3
Pritchard, P.H.4
-
28
-
-
0004230654
-
Fish-eye disease and LCAT deficiency, extremes of one phenotype: A novel LCAT-mutation in a large family of Dutch descent
-
Abstract
-
Kuivenhoven JA, Wiebusch H, van Voorst tot Voorst E, Hill JS, Pritchard PH, Funke H, Kastelein JJP. Fish-eye disease and LCAT deficiency, extremes of one phenotype: a novel LCAT-mutation in a large family of Dutch descent. Atherosclerosis. 1994;109:230. Abstract.
-
(1994)
Atherosclerosis
, vol.109
, pp. 230
-
-
Kuivenhoven, J.A.1
Wiebusch, H.2
Van Voorst tot Voorst, E.3
Hill, J.S.4
Pritchard, P.H.5
Funke, H.6
Kastelein, J.J.P.7
-
29
-
-
0020065476
-
Fish-eye disease: A new familial condition with massive corneal opacities and dyslipoproteinemia
-
Carlson LA. Fish-eye disease: a new familial condition with massive corneal opacities and dyslipoproteinemia. Eur J Clin Invest. 1982;12:41-53.
-
(1982)
Eur J Clin Invest
, vol.12
, pp. 41-53
-
-
Carlson, L.A.1
-
30
-
-
0023275517
-
Hypoalphalipoproteinemia resembling fish eye disease
-
Frohlich J, Hoag G, McLeod R, Hayden M, Godin DV, Wadsworth LD, Critchley JD, Pritchard PH. Hypoalphalipoproteinemia resembling fish eye disease. Acta Med Scand. 1987;221:291-298.
-
(1987)
Acta Med Scand
, vol.221
, pp. 291-298
-
-
Frohlich, J.1
Hoag, G.2
McLeod, R.3
Hayden, M.4
Godin, D.V.5
Wadsworth, L.D.6
Critchley, J.D.7
Pritchard, P.H.8
-
31
-
-
0026750283
-
Familial high-density-lipoprotein deficiency causing corneal opacities (fish-eye disease) in a family of Dutch descent
-
Kastelein JJP, Pritchard PH, Erkelens DW, Kuivenhoven JA, Albers JJ, Frohlich JJ. Familial high-density-lipoprotein deficiency causing corneal opacities (fish-eye disease) in a family of Dutch descent. J Intern Med, 1992;231:413-419.
-
(1992)
J Intern Med
, vol.231
, pp. 413-419
-
-
Kastelein, J.J.P.1
Pritchard, P.H.2
Erkelens, D.W.3
Kuivenhoven, J.A.4
Albers, J.J.5
Frohlich, J.J.6
-
32
-
-
0026054745
-
A 'fish-eye disease' familial condition with massive corneal opacities and hypoalpha-lipoproteinaemia: Clinical, biochemical and genetic features
-
Clerc M, Dumon MF, Sess D, Freneix Clerc M, Mackness M, Conri C. A 'fish-eye disease' familial condition with massive corneal opacities and hypoalpha-lipoproteinaemia: clinical, biochemical and genetic features. Eur J Clin Invest. 1991;21:616-624.
-
(1991)
Eur J Clin Invest
, vol.21
, pp. 616-624
-
-
Clerc, M.1
Dumon, M.F.2
Sess, D.3
Freneix Clerc, M.4
Mackness, M.5
Conri, C.6
-
33
-
-
0028144266
-
Markedly accelerated catabolism of apolipoprotein A-II (ApoA-II) and high density lipoproteins containing ApoA-II in classic lecithin:cholesterol acyltransferase deficiency and fish-eye disease
-
Rader DJ, Ikewaki K, Duverger N, Schmidt H, Pritchard PH, Frohlich JJ, Clerc M, Dumon MF, Fairwell T, Zech L, Santamarina-Fojo S, Brewer HB Jr. Markedly accelerated catabolism of apolipoprotein A-II (ApoA-II) and high density lipoproteins containing ApoA-II in classic lecithin:cholesterol acyltransferase deficiency and fish-eye disease. J Clin Invest. 1994;93:321-330.
-
(1994)
J Clin Invest
, vol.93
, pp. 321-330
-
-
Rader, D.J.1
Ikewaki, K.2
Duverger, N.3
Schmidt, H.4
Pritchard, P.H.5
Frohlich, J.J.6
Clerc, M.7
Dumon, M.F.8
Fairwell, T.9
Zech, L.10
Santamarina-Fojo, S.11
Brewer Jr., H.B.12
|