-
1
-
-
0037903275
-
Human Gene Mutation Database (HGMD): 2003 update
-
Stenson P.D., Ball E.V., Mort M., et al. Human Gene Mutation Database (HGMD): 2003 update. Hum Mutat 2003, 21:577-581.
-
(2003)
Hum Mutat
, vol.21
, pp. 577-581
-
-
Stenson, P.D.1
Ball, E.V.2
Mort, M.3
-
2
-
-
0035173378
-
DbSNP: the NCBI database of genetic variation
-
Sherry S.T., Ward M.H., Kholodov M., et al. dbSNP: the NCBI database of genetic variation. Nucleic Acids Res 2001, 29:308-311.
-
(2001)
Nucleic Acids Res
, vol.29
, pp. 308-311
-
-
Sherry, S.T.1
Ward, M.H.2
Kholodov, M.3
-
3
-
-
22844452823
-
LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach
-
Fokkema I.F., den Dunnen J.T., Taschner P.E. LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach. Hum Mutat 2005, 26:63-68.
-
(2005)
Hum Mutat
, vol.26
, pp. 63-68
-
-
Fokkema, I.F.1
den Dunnen, J.T.2
Taschner, P.E.3
-
4
-
-
84871449471
-
Genetics 101 for cardiologists: rare genetic variants and monogenic cardiovascular disease
-
Farhan S.M., Hegele R.A. Genetics 101 for cardiologists: rare genetic variants and monogenic cardiovascular disease. Can J Cardiol 2013, 29:18-22.
-
(2013)
Can J Cardiol
, vol.29
, pp. 18-22
-
-
Farhan, S.M.1
Hegele, R.A.2
-
5
-
-
84871414655
-
Genetics 100 for cardiologists: basics of genome-wide association studies
-
Dubé J.B., Hegele R.A. Genetics 100 for cardiologists: basics of genome-wide association studies. Can J Cardiol 2013, 29:10-17.
-
(2013)
Can J Cardiol
, vol.29
, pp. 10-17
-
-
Dubé, J.B.1
Hegele, R.A.2
-
6
-
-
58549109632
-
Plasma lipoproteins: genetic influences and clinical implications
-
Hegele R.A. Plasma lipoproteins: genetic influences and clinical implications. Nat Rev Genet 2009, 10:109-121.
-
(2009)
Nat Rev Genet
, vol.10
, pp. 109-121
-
-
Hegele, R.A.1
-
7
-
-
79958846829
-
Familial hypercholesterolemia: epidemiology, Neolithic origins and modern geographic distribution
-
Liyanage K.E., Burnett J.R., Hooper A.J., van Bockxmeer F.M. Familial hypercholesterolemia: epidemiology, Neolithic origins and modern geographic distribution. Crit Rev Clin Lab Sci 2011, 48:1-18.
-
(2011)
Crit Rev Clin Lab Sci
, vol.48
, pp. 1-18
-
-
Liyanage, K.E.1
Burnett, J.R.2
Hooper, A.J.3
van Bockxmeer, F.M.4
-
8
-
-
47349123253
-
Abetalipoproteinemia: two case reports and literature review
-
Zamel R., Khan R., Pollex R.L., Hegele R.A. Abetalipoproteinemia: two case reports and literature review. Orphanet J Rare Dis 2008, 3:19.
-
(2008)
Orphanet J Rare Dis
, vol.3
, pp. 19
-
-
Zamel, R.1
Khan, R.2
Pollex, R.L.3
Hegele, R.A.4
-
9
-
-
84864127581
-
Clinical utility gene card for familial hypobetalipoproteinaemia (APOB)
-
Burnett J.R., Bell D.A., Hooper A.J., Hegele R.A. Clinical utility gene card for familial hypobetalipoproteinaemia (APOB). Eur J Hum Genet 2012, 20:8.
-
(2012)
Eur J Hum Genet
, vol.20
, pp. 8
-
-
Burnett, J.R.1
Bell, D.A.2
Hooper, A.J.3
Hegele, R.A.4
-
10
-
-
78651364798
-
Molecular analysis and intestinal expression of SAR1 genes and proteins in Anderson's disease (chylomicron retention disease)
-
Georges A., Bonneau J., Bonnefont-Rousselot D., et al. Molecular analysis and intestinal expression of SAR1 genes and proteins in Anderson's disease (chylomicron retention disease). Orphanet J Rare Dis 2011, 6:16.
-
(2011)
Orphanet J Rare Dis
, vol.6
, pp. 16
-
-
Georges, A.1
Bonneau, J.2
Bonnefont-Rousselot, D.3
-
11
-
-
33645103550
-
Sequence variations in PCSK9, low LDL, and protection against coronary heart disease
-
Cohen J.C., Boerwinkle E., Mosley T.H., Hobbs H.H. Sequence variations in PCSK9, low LDL, and protection against coronary heart disease. NEngl J Med 2006, 354:1264-1272.
-
(2006)
NEngl J Med
, vol.354
, pp. 1264-1272
-
-
Cohen, J.C.1
Boerwinkle, E.2
Mosley, T.H.3
Hobbs, H.H.4
-
12
-
-
17844373610
-
Review of CETP and its relation to atherosclerosis
-
de Grooth G.J., Klerkx A.H.E.M., Stroes E.S.G., Stalenhoef A.F.H., Kastelein J.J.P., Kuivenhoven J.A.A. Review of CETP and its relation to atherosclerosis. JLipid Res 2004, 45:1967-1974.
-
(2004)
JLipid Res
, vol.45
, pp. 1967-1974
-
-
de Grooth, G.J.1
Klerkx, A.H.E.M.2
Stroes, E.S.G.3
Stalenhoef, A.F.H.4
Kastelein, J.J.P.5
Kuivenhoven, J.A.A.6
-
13
-
-
0027162816
-
Hepatic lipase deficiency: clinical, biochemical, and molecular genetic characteristics
-
Hegele R.A., Little J.A., Vezina C., et al. Hepatic lipase deficiency: clinical, biochemical, and molecular genetic characteristics. Arterioscler Thromb 1993, 13:720-728.
-
(1993)
Arterioscler Thromb
, vol.13
, pp. 720-728
-
-
Hegele, R.A.1
Little, J.A.2
Vezina, C.3
-
14
-
-
78651352098
-
Genetic variant of the scavenger receptor BI in humans
-
Vergeer M., Korporaal S.J., Franssen R., et al. Genetic variant of the scavenger receptor BI in humans. NEngl J Med 2011, 364:136-145.
-
(2011)
NEngl J Med
, vol.364
, pp. 136-145
-
-
Vergeer, M.1
Korporaal, S.J.2
Franssen, R.3
-
15
-
-
65249186429
-
Loss-of-function variants in endothelial lipase are a cause of elevated HDL cholesterol in humans
-
Edmondson A.C., Brown R.J., Kathiresan S., et al. Loss-of-function variants in endothelial lipase are a cause of elevated HDL cholesterol in humans. JClin Invest 2009, 119:1042-1050.
-
(2009)
JClin Invest
, vol.119
, pp. 1042-1050
-
-
Edmondson, A.C.1
Brown, R.J.2
Kathiresan, S.3
-
16
-
-
0033816960
-
Decreased cellular cholesterol efflux is a common cause of familial hypoalphalipoproteinemia: role of the ABCA1 gene mutations
-
Mott S., Yu L., Marcil M., Boucher B., Rondeau C., Genest J. Decreased cellular cholesterol efflux is a common cause of familial hypoalphalipoproteinemia: role of the ABCA1 gene mutations. Atherosclerosis 2000, 152:457-468.
-
(2000)
Atherosclerosis
, vol.152
, pp. 457-468
-
-
Mott, S.1
Yu, L.2
Marcil, M.3
Boucher, B.4
Rondeau, C.5
Genest, J.6
-
17
-
-
0036015983
-
Analysis of apolipoprotein A-I, lecithin: cholesterol acyltransferase and glucocerebrosidase genes in hypoalphalipoproteinemia
-
Recalde D., Cenarro A., Garcia-Otin A.-L., Gomez-Coronado D., Civeira F., Pocovi M. Analysis of apolipoprotein A-I, lecithin: cholesterol acyltransferase and glucocerebrosidase genes in hypoalphalipoproteinemia. Atherosclerosis 2002, 163:49-58.
-
(2002)
Atherosclerosis
, vol.163
, pp. 49-58
-
-
Recalde, D.1
Cenarro, A.2
Garcia-Otin, A.-L.3
Gomez-Coronado, D.4
Civeira, F.5
Pocovi, M.6
-
18
-
-
0029615430
-
Apolipoprotein A-I deficiency: biochemical and metabolic characteristics
-
Ng D.S., Vezina C., Wolever T.S., Kuksis A., Hegele R.A., Connelly P.W. Apolipoprotein A-I deficiency: biochemical and metabolic characteristics. Arterioscler Thromb Vasc Biol 1995, 15:2157-2164.
-
(1995)
Arterioscler Thromb Vasc Biol
, vol.15
, pp. 2157-2164
-
-
Ng, D.S.1
Vezina, C.2
Wolever, T.S.3
Kuksis, A.4
Hegele, R.A.5
Connelly, P.W.6
-
19
-
-
79960644031
-
Genetic bases of hypertriglyceridemic phenotypes
-
Johansen C.T., Hegele R.A. Genetic bases of hypertriglyceridemic phenotypes. Curr Opin Lipidol 2011, 4:247-253.
-
(2011)
Curr Opin Lipidol
, vol.4
, pp. 247-253
-
-
Johansen, C.T.1
Hegele, R.A.2
-
20
-
-
0028245754
-
Apolipoprotein E in hyperlipidemia
-
Walden C.C., Hegele R.A. Apolipoprotein E in hyperlipidemia. Ann Intern Med 1994, 120:1026-1036.
-
(1994)
Ann Intern Med
, vol.120
, pp. 1026-1036
-
-
Walden, C.C.1
Hegele, R.A.2
-
21
-
-
78649755576
-
Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia
-
Musunuru K., Pirruccello J.P., Do R., et al. Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia. NEngl J Med 2010, 363:2220-2227.
-
(2010)
NEngl J Med
, vol.363
, pp. 2220-2227
-
-
Musunuru, K.1
Pirruccello, J.P.2
Do, R.3
-
22
-
-
58149262866
-
Anull mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection
-
Pollin T.I., Damcott C.M., Shen H., et al. Anull mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection. Science 2008, 322:1702-1705.
-
(2008)
Science
, vol.322
, pp. 1702-1705
-
-
Pollin, T.I.1
Damcott, C.M.2
Shen, H.3
-
23
-
-
0035491250
-
Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia
-
Hubacek J.A., Berge K.E., Cohen J.C., Hobbs H.H. Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia. Hum Mutat 2001, 18:359-360.
-
(2001)
Hum Mutat
, vol.18
, pp. 359-360
-
-
Hubacek, J.A.1
Berge, K.E.2
Cohen, J.C.3
Hobbs, H.H.4
-
24
-
-
67349154851
-
Cholesteryl ester storage disease (CESD) due to novel mutations in the LIPA gene
-
Pisciotta L., Fresa R., Bellocchio A., et al. Cholesteryl ester storage disease (CESD) due to novel mutations in the LIPA gene. Mol Genet Metab 2009, 97:143-148.
-
(2009)
Mol Genet Metab
, vol.97
, pp. 143-148
-
-
Pisciotta, L.1
Fresa, R.2
Bellocchio, A.3
-
25
-
-
0036079158
-
The human genome browser at UCSC
-
Kent W.J., Sugnet C.W., Furey T.S., et al. The human genome browser at UCSC. Genome Res 2002, 12:996-1006.
-
(2002)
Genome Res
, vol.12
, pp. 996-1006
-
-
Kent, W.J.1
Sugnet, C.W.2
Furey, T.S.3
-
26
-
-
67650064594
-
The Consensus Coding Sequence (CCDS) project: identifying a common protein-coding gene set for the human and mouse genomes
-
Pruitt K.D., Harrow J., Harte R.A., et al. The Consensus Coding Sequence (CCDS) project: identifying a common protein-coding gene set for the human and mouse genomes. Genome Res 2009, 19:1316-1323.
-
(2009)
Genome Res
, vol.19
, pp. 1316-1323
-
-
Pruitt, K.D.1
Harrow, J.2
Harte, R.A.3
-
27
-
-
0033987736
-
Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion
-
den Dunnen J.T., Antonarakis S.E. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 2000, 1591:7-12.
-
(2000)
Hum Mutat
, vol.1591
, pp. 7-12
-
-
den Dunnen, J.T.1
Antonarakis, S.E.2
-
28
-
-
68149165614
-
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
-
Kumar P., Henikoff S., Ng P.C. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 2009, 4:1073-1081.
-
(2009)
Nat Protoc
, vol.4
, pp. 1073-1081
-
-
Kumar, P.1
Henikoff, S.2
Ng, P.C.3
-
29
-
-
77951640946
-
Amethod and server for predicting damaging missense mutations
-
Adzhubei I.A., Schmidt S., Peshkin L., et al. Amethod and server for predicting damaging missense mutations. Nat Methods 2010, 7:248-249.
-
(2010)
Nat Methods
, vol.7
, pp. 248-249
-
-
Adzhubei, I.A.1
Schmidt, S.2
Peshkin, L.3
|