-
1
-
-
0000710395
-
Familial hypercholesterolaemia
-
Scriver CR, Beaudet AL, Sly WS, Valle D, editors., 7th edn. New York, NY: McGraw Hill
-
Goldstein JL, Hobbs HH, Brown MS. Familial hypercholesterolaemia. Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular basis of inherited disease, 7th edn. New York, NY: McGraw Hill, 1995;2863-914.
-
(1995)
The metabolic and molecular basis of inherited disease
, pp. 2863-2914
-
-
Goldstein, J.L.1
Hobbs, H.H.2
Brown, M.S.3
-
2
-
-
17944381537
-
Task force on sudden cardiac death of the European Society of Cardiology
-
Priori SG, Aliot E, Blomstrom-Lundqvist C, Bossaert L, Breithardt G, Brugada P, et al. Task force on sudden cardiac death of the European Society of Cardiology. Eur Heart J 2001;22(16):1374-450.
-
(2001)
Eur Heart J
, vol.22
, Issue.16
, pp. 1374-1450
-
-
Priori, S.G.1
Aliot, E.2
Blomstrom-Lundqvist, C.3
Bossaert, L.4
Breithardt, G.5
Brugada, P.6
-
3
-
-
37249029830
-
Genetic heterogeneity of autosomal dominant hypercholesterolemia
-
Varret M, Abifadel M, Rabes JP, Boileau C. Genetic heterogeneity of autosomal dominant hypercholesterolemia. Clin Genet 2008;73(1):1-13.
-
(2008)
Clin Genet
, vol.73
, Issue.1
, pp. 1-13
-
-
Varret, M.1
Abifadel, M.2
Rabes, J.P.3
Boileau, C.4
-
4
-
-
79955038371
-
Acute coronary syndromes in young patients: presentation, treatment and outcome
-
Schoenenberger AW, Radovanovic D, Stauffer JC, Windecker S, Urban P, Niedermaier G, et al. Acute coronary syndromes in young patients: presentation, treatment and outcome. Int J Cardiol 2011;148(3):300-4.
-
(2011)
Int J Cardiol
, vol.148
, Issue.3
, pp. 300-304
-
-
Schoenenberger, A.W.1
Radovanovic, D.2
Stauffer, J.C.3
Windecker, S.4
Urban, P.5
Niedermaier, G.6
-
5
-
-
41949108578
-
Premature myocardial infarction: clinical profile and angiographic findings
-
Pineda J, Marin F, Roldan V, Valencia J, Marco P, Sogorb F. Premature myocardial infarction: clinical profile and angiographic findings. Int J Cardiol 2008;1:127-9.
-
(2008)
Int J Cardiol
, vol.1
, pp. 127-129
-
-
Pineda, J.1
Marin, F.2
Roldan, V.3
Valencia, J.4
Marco, P.5
Sogorb, F.6
-
6
-
-
0029967332
-
Parental history of premature coronary heart disease: an independent risk factor of myocardial infarction
-
Jousilahti P, Puska P, Vartiainen E, Pekkanen J, Tuomilehto J. Parental history of premature coronary heart disease: an independent risk factor of myocardial infarction. J Clin Epidemiol 1996;49(5):497-503.
-
(1996)
J Clin Epidemiol
, vol.49
, Issue.5
, pp. 497-503
-
-
Jousilahti, P.1
Puska, P.2
Vartiainen, E.3
Pekkanen, J.4
Tuomilehto, J.5
-
7
-
-
0025167629
-
Parental history is an independent risk factor for coronary artery disease: the Framingham Study
-
Myers RH, Kiely DK, Cupples LA, Kannel WB. Parental history is an independent risk factor for coronary artery disease: the Framingham Study. Am Heart J 1990;120(4):963-9.
-
(1990)
Am Heart J
, vol.120
, Issue.4
, pp. 963-969
-
-
Myers, R.H.1
Kiely, D.K.2
Cupples, L.A.3
Kannel, W.B.4
-
8
-
-
0017280608
-
Cigarette smoking and atherosclerosis in autopsied men
-
Strong JP, Richards ML. Cigarette smoking and atherosclerosis in autopsied men. Atherosclerosis 1976;23(3):451-76.
-
(1976)
Atherosclerosis
, vol.23
, Issue.3
, pp. 451-476
-
-
Strong, J.P.1
Richards, M.L.2
-
9
-
-
0020637106
-
Risk factors and atherosclerotic lesions. A review of autopsy studies
-
Solberg LA, Strong JP. Risk factors and atherosclerotic lesions. A review of autopsy studies. Arteriosclerosis 1983;3(3):187-98.
-
(1983)
Arteriosclerosis
, vol.3
, Issue.3
, pp. 187-198
-
-
Solberg, L.A.1
Strong, J.P.2
-
10
-
-
0020062632
-
Clinical characteristics and cigarette smoking in relation to prognosis of angina pectoris in Framingham
-
Hubert HB, Holford TR, Kannel WB. Clinical characteristics and cigarette smoking in relation to prognosis of angina pectoris in Framingham. Am J Epidemiol 1982;115(2):231-42.
-
(1982)
Am J Epidemiol
, vol.115
, Issue.2
, pp. 231-242
-
-
Hubert, H.B.1
Holford, T.R.2
Kannel, W.B.3
-
11
-
-
36849015926
-
Childhood body-mass index and the risk of coronary heart disease in adulthood
-
Baker JL, Olsen LW, Sorensen TI. Childhood body-mass index and the risk of coronary heart disease in adulthood. N Engl J Med 2007;23:2329-37.
-
(2007)
N Engl J Med
, vol.23
, pp. 2329-2337
-
-
Baker, J.L.1
Olsen, L.W.2
Sorensen, T.I.3
-
12
-
-
35848935201
-
Cause-specific excess deaths associated with underweight, overweight, and obesity
-
Flegal KM, Graubard BI, Williamson DF, Gail MH. Cause-specific excess deaths associated with underweight, overweight, and obesity. JAMA 2007;17:2028-37.
-
(2007)
JAMA
, vol.17
, pp. 2028-2037
-
-
Flegal, K.M.1
Graubard, B.I.2
Williamson, D.F.3
Gail, M.H.4
-
13
-
-
0027162012
-
Activation of human platelets by cocaine
-
Kugelmass AD, Oda A, Monahan K, Cabral C, Ware JA. Activation of human platelets by cocaine. Circulation 1993;88(3):876-83.
-
(1993)
Circulation
, vol.88
, Issue.3
, pp. 876-883
-
-
Kugelmass, A.D.1
Oda, A.2
Monahan, K.3
Cabral, C.4
Ware, J.A.5
-
14
-
-
76349104801
-
Cocaine-related sudden death: a prospective investigation in south-west Spain
-
Lucena J, Blanco M, Jurado C, Rico A, Salguero M, Vazquez R, et al. Cocaine-related sudden death: a prospective investigation in south-west Spain. Eur Heart J 2010;31(3):318-29.
-
(2010)
Eur Heart J
, vol.31
, Issue.3
, pp. 318-329
-
-
Lucena, J.1
Blanco, M.2
Jurado, C.3
Rico, A.4
Salguero, M.5
Vazquez, R.6
-
15
-
-
0031929109
-
Medico-legal aspects of doping
-
Madea B, Grellner W, Musshoff F, Dettmeyer R. Medico-legal aspects of doping. J Clin Forensic Med 1998;5(1):1-7.
-
(1998)
J Clin Forensic Med
, vol.5
, Issue.1
, pp. 1-7
-
-
Madea, B.1
Grellner, W.2
Musshoff, F.3
Dettmeyer, R.4
-
16
-
-
0025796783
-
Anabolic/androgenic steroid abuse and thrombosis: is there a connection?
-
Ferenchick GS. Anabolic/androgenic steroid abuse and thrombosis: is there a connection? Med Hypotheses 1991;35(1):27-31.
-
(1991)
Med Hypotheses
, vol.35
, Issue.1
, pp. 27-31
-
-
Ferenchick, G.S.1
-
17
-
-
33751210913
-
Sudden anabolic steroid abuse-related death in athletes
-
Di Paolo M, Agozzino M, Toni C, Luciani AB, Molendini L, Scaglione M, et al. Sudden anabolic steroid abuse-related death in athletes. Int J Cardiol 2007;1:114-7.
-
(2007)
Int J Cardiol
, vol.1
, pp. 114-117
-
-
Di Paolo, M.1
Agozzino, M.2
Toni, C.3
Luciani, A.B.4
Molendini, L.5
Scaglione, M.6
-
18
-
-
44849139452
-
Acute myocardial infarction in a young man using anabolic steroids
-
Wysoczanski M, Rachko M, Bergmann SR. Acute myocardial infarction in a young man using anabolic steroids. Angiology 2008;59(3):376-8.
-
(2008)
Angiology
, vol.59
, Issue.3
, pp. 376-378
-
-
Wysoczanski, M.1
Rachko, M.2
Bergmann, S.R.3
-
19
-
-
0029097154
-
A definition of advanced types of atherosclerotic lesions and a histological classification of atherosclerosis. A report from the Committee on Vascular Lesions of the Council on Arteriosclerosis, American Heart Association
-
Stary HC, Chandler AB, Dinsmore RE, Fuster V, Glagov S, Insull W Jr, et al. A definition of advanced types of atherosclerotic lesions and a histological classification of atherosclerosis. A report from the Committee on Vascular Lesions of the Council on Arteriosclerosis, American Heart Association. Circulation 1995;5:1355-74.
-
(1995)
Circulation
, vol.5
, pp. 1355-1374
-
-
Stary, H.C.1
Chandler, A.B.2
Dinsmore, R.E.3
Fuster, V.4
Glagov, S.5
Insull Jr., W.6
-
20
-
-
0034019601
-
Lessons from sudden coronary death: a comprehensive morphological classification scheme for atherosclerotic lesions
-
Virmani R, Kolodgie FD, Burke AP, Farb A, Schwartz SM. Lessons from sudden coronary death: a comprehensive morphological classification scheme for atherosclerotic lesions. Arterioscler Thromb Vasc Biol 2000;20(5):1262-75.
-
(2000)
Arterioscler Thromb Vasc Biol
, vol.20
, Issue.5
, pp. 1262-1275
-
-
Virmani, R.1
Kolodgie, F.D.2
Burke, A.P.3
Farb, A.4
Schwartz, S.M.5
-
21
-
-
0029670804
-
The Trp23-Stop and Trp66-Gly mutations in the LDL receptor gene: common causes of familial hypercholesterolemia in Denmark
-
Jensen HK, Jensen LG, Hansen PS, Faergeman O, Gregersen N. The Trp23-Stop and Trp66-Gly mutations in the LDL receptor gene: common causes of familial hypercholesterolemia in Denmark. Atherosclerosis 1996;2:57-65.
-
(1996)
Atherosclerosis
, vol.2
, pp. 57-65
-
-
Jensen, H.K.1
Jensen, L.G.2
Hansen, P.S.3
Faergeman, O.4
Gregersen, N.5
-
22
-
-
0025266556
-
Common low-density lipoprotein receptor mutations in the French Canadian population
-
Leitersdorf E, Tobin EJ, Davignon J, Hobbs HH. Common low-density lipoprotein receptor mutations in the French Canadian population. J Clin Invest 1990;85(4):1014-23.
-
(1990)
J Clin Invest
, vol.85
, Issue.4
, pp. 1014-1023
-
-
Leitersdorf, E.1
Tobin, E.J.2
Davignon, J.3
Hobbs, H.H.4
-
23
-
-
33947651099
-
Diagnosis of families with familial hypercholesterolaemia and/or Apo B-100 defect by means of DNA analysis of LDL-receptor gene mutations
-
Widhalm K, Dirisamer A, Lindemayr A, Kostner G. Diagnosis of families with familial hypercholesterolaemia and/or Apo B-100 defect by means of DNA analysis of LDL-receptor gene mutations. J Inherit Metab Dis 2007;30(2):239-47.
-
(2007)
J Inherit Metab Dis
, vol.30
, Issue.2
, pp. 239-247
-
-
Widhalm, K.1
Dirisamer, A.2
Lindemayr, A.3
Kostner, G.4
-
24
-
-
17044427538
-
The relationship of molecular genetic to clinical diagnosis of familial hypercholesterolemia in a Danish population
-
Damgaard D, Larsen ML, Nissen PH, Jensen JM, Jensen HK, Soerensen VR, et al. The relationship of molecular genetic to clinical diagnosis of familial hypercholesterolemia in a Danish population. Atherosclerosis 2005;180(1):155-60.
-
(2005)
Atherosclerosis
, vol.180
, Issue.1
, pp. 155-160
-
-
Damgaard, D.1
Larsen, M.L.2
Nissen, P.H.3
Jensen, J.M.4
Jensen, H.K.5
Soerensen, V.R.6
-
25
-
-
0036934013
-
Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia
-
Amsellem S, Briffaut D, Carrie A, Rabes JP, Girardet JP, Fredenrich A, et al. Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia. Hum Genet 2002;111(6):501-10.
-
(2002)
Hum Genet
, vol.111
, Issue.6
, pp. 501-510
-
-
Amsellem, S.1
Briffaut, D.2
Carrie, A.3
Rabes, J.P.4
Girardet, J.P.5
Fredenrich, A.6
-
26
-
-
44849108492
-
Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database
-
Leigh SE, Foster AH, Whittall RA, Hubbart CS, Humphries SE. Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database. Ann Hum Genet 2008;4:485-98.
-
(2008)
Ann Hum Genet
, vol.4
, pp. 485-498
-
-
Leigh, S.E.1
Foster, A.H.2
Whittall, R.A.3
Hubbart, C.S.4
Humphries, S.E.5
-
27
-
-
0032876978
-
dbSNP-database for single nucleotide polymorphisms and other classes of minor genetic variation
-
Sherry ST, Ward M, Sirotkin K. dbSNP-database for single nucleotide polymorphisms and other classes of minor genetic variation. Genome Res 1999;9(8):677-9.
-
(1999)
Genome Res
, vol.9
, Issue.8
, pp. 677-679
-
-
Sherry, S.T.1
Ward, M.2
Sirotkin, K.3
-
28
-
-
0015839023
-
Hyperlipidemia in coronary heart disease. I. Lipid levels in 500 survivors of myocardial infarction
-
Goldstein JL, Hazzard WR, Schrott HG, Bierman EL, Motulsky AG. Hyperlipidemia in coronary heart disease. I. Lipid levels in 500 survivors of myocardial infarction. J Clin Invest 1973;52(7):1533-43.
-
(1973)
J Clin Invest
, vol.52
, Issue.7
, pp. 1533-1543
-
-
Goldstein, J.L.1
Hazzard, W.R.2
Schrott, H.G.3
Bierman, E.L.4
Motulsky, A.G.5
-
29
-
-
0021764776
-
Postmortem diagnosis of familial hypercholesterolaemia
-
Leadbeatter S, Stansbie D. Postmortem diagnosis of familial hypercholesterolaemia. Br Med J (Clin Res Ed) 1984;289(6459):1656.
-
(1984)
Br Med J (Clin Res Ed)
, vol.289
, Issue.6459
, pp. 1656
-
-
Leadbeatter, S.1
Stansbie, D.2
-
30
-
-
0032713555
-
Post mortem molecularly defined familial hypercholesterolemia and sudden cardiac death of young men
-
Vuorio AF, Kontula K, Turtola H, Sajantila A. Post mortem molecularly defined familial hypercholesterolemia and sudden cardiac death of young men. Forensic Sci Int 1999;2:87-92.
-
(1999)
Forensic Sci Int
, vol.2
, pp. 87-92
-
-
Vuorio, A.F.1
Kontula, K.2
Turtola, H.3
Sajantila, A.4
-
31
-
-
61849159311
-
Effects of intronic mutations in the LDLR gene on pre-mRNA splicing: comparison of wet-lab and bioinformatics analyses
-
Holla OL, Nakken S, Mattingsdal M, Ranheim T, Berge KE, Defesche JC, et al. Effects of intronic mutations in the LDLR gene on pre-mRNA splicing: comparison of wet-lab and bioinformatics analyses. Mol Genet Metab 2009;96(4):245-52.
-
(2009)
Mol Genet Metab
, vol.96
, Issue.4
, pp. 245-252
-
-
Holla, O.L.1
Nakken, S.2
Mattingsdal, M.3
Ranheim, T.4
Berge, K.E.5
Defesche, J.C.6
-
32
-
-
0023636748
-
Incidence of familial hypercholesterolaemia in premature deaths due to coronary heart disease
-
Leadbeatter S, Williams DW, Stansbie D. Incidence of familial hypercholesterolaemia in premature deaths due to coronary heart disease. Am J Forensic Med Pathol 1987;8(4):280-2.
-
(1987)
Am J Forensic Med Pathol
, vol.8
, Issue.4
, pp. 280-282
-
-
Leadbeatter, S.1
Williams, D.W.2
Stansbie, D.3
-
33
-
-
0033832874
-
Humphries S. I705 variant in the low density lipoprotein receptor gene has no effect on plasma cholesterol levels
-
Heath KE, Whittal RA, Miller GJ, Humphries S. I705 variant in the low density lipoprotein receptor gene has no effect on plasma cholesterol levels. J Med Genet 2000;37(9):713-5.
-
(2000)
J Med Genet
, vol.37
, Issue.9
, pp. 713-715
-
-
Heath, K.E.1
Whittal, R.A.2
Miller, G.J.3
-
34
-
-
0029082090
-
Recurrent and novel LDL receptor gene mutations causing heterozygous familial hypercholesterolemia in La Habana
-
Pereira E, Ferreira R, Hermelin B, Thomas G, Bernard C, Bertrand V, etal. Recurrent and novel LDL receptor gene mutations causing heterozygous familial hypercholesterolemia in La Habana. Hum Genet 1995;96(3):319-22.
-
(1995)
Hum Genet
, vol.96
, Issue.3
, pp. 319-322
-
-
Pereira, E.1
Ferreira, R.2
Hermelin, B.3
Thomas, G.4
Bernard, C.5
Bertrand, V.6
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