-
1
-
-
38449111826
-
Diagnostic criteria for dyslipidemia. Executive summary of Japan Atherosclerosis Society (JAS) guideline for diagnosis and prevention of atherosclerotic cardiovascular diseases for Japanese
-
Japan Atherosclerosis Society (JAS) Committee for Epidemiology and Clinical Management of Atherosclerosis
-
Teramoto T, Sasaki J, Ueshima H, et al., Japan Atherosclerosis Society (JAS) Committee for Epidemiology and Clinical Management of Atherosclerosis. Diagnostic criteria for dyslipidemia. Executive summary of Japan Atherosclerosis Society (JAS) guideline for diagnosis and prevention of atherosclerotic cardiovascular diseases for Japanese. J Atheroscler Thromb 2007; 14:155-158.
-
(2007)
J Atheroscler Thromb
, vol.14
, pp. 155-158
-
-
Teramoto, T.1
Sasaki, J.2
Ueshima, H.3
-
2
-
-
84870737130
-
Multicenter study to determine the diagnosis criteria of heterozygous familial hypercholesterolemia in Japan
-
Harada-Shiba M1, Arai H, Okamura T, et al. Multicenter study to determine the diagnosis criteria of heterozygous familial hypercholesterolemia in Japan. J Atheroscler Thromb 2012; 19:1019-1026.
-
(2012)
J Atheroscler Thromb
, vol.19
, pp. 1019-1026
-
-
Harada-Shiba, M.L.1
Arai, H.2
Okamura, T.3
-
3
-
-
0025944056
-
Risk of fatal coronary heart disease in familial hypercholesterolaemia
-
Scientific Steering Committee on behalf of the Simon Broome Register Group
-
Risk of fatal coronary heart disease in familial hypercholesterolaemia. Scientific Steering Committee on behalf of the Simon Broome Register Group. BMJ 1991; 303:893-896.
-
(1991)
BMJ
, vol.303
, pp. 893-896
-
-
-
4
-
-
53949117761
-
-
National Collaborating Centre for Primary Care (UK) (2008), London: Royal College of General Practitioners (UK)
-
National Collaborating Centre for Primary Care (UK) (2008). CG71 Identification and Management of Familial Hypercholesterolaemia. London: Royal College of General Practitioners (UK) Available from: https://www. nice. org. uk/guidance/cg71.
-
CG71 Identification and Management of Familial Hypercholesterolaemia
-
-
-
5
-
-
0027301629
-
Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics
-
Williams RR, Hunt SC, Schumacher C, et al. Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics. Am J Cardiol 1993; 72:171-176.
-
(1993)
Am J Cardiol
, vol.72
, pp. 171-176
-
-
Williams, R.R.1
Hunt, S.C.2
Schumacher, C.3
-
6
-
-
84960324185
-
Combined hyperlipidemia: Familial but not (usually) monogenic
-
Brahm AJ, Hegele RA. Combined hyperlipidemia: familial but not (usually) monogenic. Curr Opin Lipidol 2016; 27:131-140.
-
(2016)
Curr Opin Lipidol
, vol.27
, pp. 131-140
-
-
Brahm, A.J.1
Hegele, R.A.2
-
7
-
-
84924965687
-
Clinical experience of scoring criteria for familial hypercholesterolaemia (FH) genetic testing in Wales
-
Haralambos K, Whatley SD, Edwards R, et al. Clinical experience of scoring criteria for familial hypercholesterolaemia (FH) genetic testing in Wales. Atherosclerosis 2015; 240:190-196.
-
(2015)
Atherosclerosis
, vol.240
, pp. 190-196
-
-
Haralambos, K.1
Whatley, S.D.2
Edwards, R.3
-
9
-
-
0002114596
-
Familial hypercholesterolaemia
-
Betteridge DJ, editor. London, UK: Martin Dunitz
-
Defesche JC. Familial hypercholesterolaemia. In: Betteridge DJ, editor. Lipids and vascular disease. London, UK: Martin Dunitz; 2000. pp. 65-76.
-
(2000)
Lipids and Vascular Disease
, pp. 65-76
-
-
Defesche, J.C.1
-
10
-
-
84890461947
-
Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: Guidance for clinicians to prevent coronary heart disease: Consensus statement of the European Atherosclerosis Society
-
Nordestgaard BG, Chapman JM, Humphries SE, et al. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society. Eur Heart J 2013; 34:3478-3490.
-
(2013)
Eur Heart J
, vol.34
, pp. 3478-3490
-
-
Nordestgaard, B.G.1
Chapman, J.M.2
Humphries, S.E.3
-
11
-
-
85037635019
-
Web based tools to assess eligibility for genetic testing for familial hypercholesterolaemia (FH)
-
Ashfield-Watt PAL, Haralambos K, Sharif B, et al. Web based tools to assess eligibility for genetic testing for familial hypercholesterolaemia (FH). Atherosclerosis 2016; 245:e245.
-
(2016)
Atherosclerosis
, vol.245
, pp. e245
-
-
Ashfield-Watt, P.A.L.1
Haralambos, K.2
Sharif, B.3
-
12
-
-
54549111350
-
Comparison of genetic versus clinical diagnosis in familial hypercholesterolemia
-
Civeira F, Ros E, Estibaliz J, et al. Comparison of genetic versus clinical diagnosis in familial hypercholesterolemia. Am J Cardiol 2008; 102:1187-1193.
-
(2008)
Am J Cardiol
, vol.102
, pp. 1187-1193
-
-
Civeira, F.1
Ros, E.2
Estibaliz, J.3
-
13
-
-
84920160399
-
Improving identification of FH in primary care: Derivation and validation of the familial hypercholesterolaemia case ascertainment tool (FAMCAT)
-
Weng SF, Kai J, Neil HA, et al. Improving identification of FH in primary care: Derivation and validation of the familial hypercholesterolaemia case ascertainment tool (FAMCAT). Atherosclerosis 2015; 238:336-343
-
(2015)
Atherosclerosis
, vol.238
, pp. 336-343
-
-
Weng, S.F.1
Kai, J.2
Neil, H.A.3
-
14
-
-
84919769680
-
Canadian Cardiovascular Society position statement on familial hypercholesterolemia
-
Genest J, Hegele RA, Bergeron J, et al. Canadian Cardiovascular Society position statement on familial hypercholesterolemia. Can J Cardiol 2014; 30:e1471-e1481.
-
(2014)
Can J Cardiol
, vol.30
, pp. e1471-e1481
-
-
Genest, J.1
Hegele, R.A.2
Bergeron, J.3
-
15
-
-
85016264672
-
Selection of individuals for genetic testing for familial hypercholesterolaemia: Development and external validation of a prediction model for the presence of a mutation causing familial hypercholesterolaemia
-
[Epub ahead of print]
-
Besseling J, Reitsma JB, Gaudet D, et al. Selection of individuals for genetic testing for familial hypercholesterolaemia: development and external validation of a prediction model for the presence of a mutation causing familial hypercholesterolaemia. Eur Heart J 2016; doi: 10. 1093/eurheartj/ehw135. [Epub ahead of print]
-
(2016)
Eur Heart J
-
-
Besseling, J.1
Reitsma, J.B.2
Gaudet, D.3
-
16
-
-
17044427538
-
The relationship of molecular genetic to clinical diagnosis of familial hypercholesterolemia in a Danish population
-
Damgaard D, Larsen ML, Nissen PH, et al. The relationship of molecular genetic to clinical diagnosis of familial hypercholesterolemia in a Danish population. Atherosclerosis 2005; 180:155-160.
-
(2005)
Atherosclerosis
, vol.180
, pp. 155-160
-
-
Damgaard, D.1
Larsen, M.L.2
Nissen, P.H.3
-
17
-
-
84871798022
-
Effectiveness of alternative strategies to define index case phenotypes to aid genetic diagnosis of familial hypercholesterolaemia
-
Clarke RE, Padayachee. Preston R, et al. Effectiveness of alternative strategies to define index case phenotypes to aid genetic diagnosis of familial hypercholesterolaemia. Heart 2013; 99:175e180.
-
(2013)
Heart
, vol.99
, pp. 175e180
-
-
Clarke, R.E.1
Preston, P.R.2
-
18
-
-
84966551189
-
Mutations causative of familial hypercholesterolaemia: Screening of 98 098 individuals from the Copenhagen General Population Study estimated a prevalence of 1 in 217
-
Benn M, Watts GF, Tybjærg-Hansen A, Nordestgaard BG. Mutations causative of familial hypercholesterolaemia: screening of 98 098 individuals from the Copenhagen General Population Study estimated a prevalence of 1 in 217. Eur Heart J 2016; 37:1384-1394.
-
(2016)
Eur Heart J
, vol.37
, pp. 1384-1394
-
-
Benn, M.1
Watts, G.F.2
Tybjærg-Hansen, A.3
Nordestgaard, B.G.4
-
19
-
-
51449112150
-
Identification of mutations in the apolipoprotein B-100 gene and in the PCSK9 gene as the cause of hypocholesterolemia
-
Leren TP, Berge KP. Identification of mutations in the apolipoprotein B-100 gene and in the PCSK9 gene as the cause of hypocholesterolemia. Clin Chim Acta 2008; 397:92-95.
-
(2008)
Clin Chim Acta
, vol.397
, pp. 92-95
-
-
Leren, T.P.1
Berge, K.P.2
-
20
-
-
33344474328
-
Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: Relationship with plasma lipid traits, heart disease risk and utility in relative tracing
-
Humphries SE, Cranston T, Allen M, et al. Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: relationship with plasma lipid traits, heart disease risk and utility in relative tracing. J Mol Med 2006; 84:203-214.
-
(2006)
J Mol Med
, vol.84
, pp. 203-214
-
-
Humphries, S.E.1
Cranston, T.2
Allen, M.3
-
21
-
-
84907140876
-
Mutations in STAP1 are associated with autosomal dominant hypercholesterolemia
-
Fouchier SW, Dallinga-Thie GM, Meijers JC, et al. Mutations in STAP1 are associated with autosomal dominant hypercholesterolemia. Circ Res 2014; 115:552-555.
-
(2014)
Circ Res
, vol.115
, pp. 552-555
-
-
Fouchier, S.W.1
Dallinga-Thie, G.M.2
Meijers, J.C.3
-
22
-
-
84893720400
-
Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol
-
NHLBI Grand Opportunity Exome Sequencing Project
-
Lange LA, Hu Y, Zhang H, Xue C, et al., NHLBI Grand Opportunity Exome Sequencing Project. Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol. Am J Hum Genet 2014; 94:233-245.
-
(2014)
Am J Hum Genet
, vol.94
, pp. 233-245
-
-
Lange, L.A.1
Hu, Y.2
Zhang, H.3
Xue, C.4
-
23
-
-
84888201938
-
Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia
-
Stitziel NO, Fouchier SW, Sjouke B, et al. Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia. Arterioscler Thromb Vasc Biol 2013; 33:2909-2914.
-
(2013)
Arterioscler Thromb Vasc Biol
, vol.33
, pp. 2909-2914
-
-
Stitziel, N.O.1
Fouchier, S.W.2
Sjouke, B.3
-
24
-
-
84870257531
-
Use of targeted exome sequencing as a diagnostic tool for familial hypercholesterolaemia
-
Futema M, Plagnol V, Whittall RA, et al. Use of targeted exome sequencing as a diagnostic tool for familial hypercholesterolaemia. J Med Genet 2012; 49:644-649.
-
(2012)
J Med Genet
, vol.49
, pp. 644-649
-
-
Futema, M.1
Plagnol, V.2
Whittall, R.A.3
-
25
-
-
84876167878
-
Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: A case-control study
-
Talmud P, Shah S, Whittall R, et al. Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: A case-control study. Lancet 2013; 381:1293-1301.
-
(2013)
Lancet
, vol.381
, pp. 1293-1301
-
-
Talmud, P.1
Shah, S.2
Whittall, R.3
-
26
-
-
84920507510
-
Refinement of variant selection for the LDL cholesterol genetic risk score in the diagnosis of the polygenic form of clinical familial hypercholesterolemia and replication in samples from 6 countries
-
Futema M, Shah S, Cooper J, Li K, et al. Refinement of variant selection for the LDL cholesterol genetic risk score in the diagnosis of the polygenic form of clinical familial hypercholesterolemia and replication in samples from 6 countries. Clin Chem 2015; 61:231-238.
-
(2015)
Clin Chem
, vol.61
, pp. 231-238
-
-
Futema, M.1
Shah, S.2
Cooper, J.3
Li, K.4
-
27
-
-
54349112435
-
Frequency of low-density lipoprotein receptor gene mutations in patients with a clinical diagnosis of familial combined hyperlipidemia in a clinical setting
-
Civeira F, Jarauta E, Cenarro A, et al. Frequency of low-density lipoprotein receptor gene mutations in patients with a clinical diagnosis of familial combined hyperlipidemia in a clinical setting. J Am Coll Cardiol 2008; 52:1546-1553.
-
(2008)
J Am Coll Cardiol
, vol.52
, pp. 1546-1553
-
-
Civeira, F.1
Jarauta, E.2
Cenarro, A.3
-
28
-
-
0026652905
-
Diagnosis of heterozygous familial hypercholesterolemia DNA analysis complements clinical examination and analysis of serum lipid levels
-
Koivisto PV, Koivisto UM, Miettinen TA, Kontula K. Diagnosis of heterozygous familial hypercholesterolemia DNA analysis complements clinical examination and analysis of serum lipid levels. Arterioscler Thromb Vasc Biol 1992; 12:584e592.
-
(1992)
Arterioscler Thromb Vasc Biol
, vol.12
, pp. 584e592
-
-
Koivisto, P.V.1
Koivisto, U.M.2
Miettinen, T.A.3
Kontula, K.4
-
29
-
-
1642364524
-
Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: Results from a familybased screening program
-
Leren TP, Manshaus T, Skovholt U, et al. Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a familybased screening program. Semin Vasc Med 2004; 4:75-85
-
(2004)
Semin Vasc Med
, vol.4
, pp. 75-85
-
-
Leren, T.P.1
Manshaus, T.2
Skovholt, U.3
|