-
1
-
-
32844460938
-
Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans
-
doi:10.1038/nature04489
-
Aitman, T.J., Dong, R., Vyse, T.J., Norsworthy, P.J., Johnson, M.D., Smith, J., et al. 2006. Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans. Nature (London), 439: 851-855. doi:10.1038/nature04489.
-
(2006)
Nature (London)
, vol.439
, pp. 851-855
-
-
Aitman, T.J.1
Dong, R.2
Vyse, T.J.3
Norsworthy, P.J.4
Johnson, M.D.5
Smith, J.6
-
2
-
-
4444376916
-
Genetic causes of monogenic heterozygous familial hypercholesterolemia: A HuGE prevalence review
-
doi:10.1093/aje/ kwh236
-
Austin, M.A., Hutter, C.M., Zimmern, R.L., and Humphries, S.E. 2004. Genetic causes of monogenic heterozygous familial hypercholesterolemia: a HuGE prevalence review. Am. J. Epidemiol. 160: 407-420. doi:10.1093/aje/ kwh236.
-
(2004)
Am. J. Epidemiol
, vol.160
, pp. 407-420
-
-
Austin, M.A.1
Hutter, C.M.2
Zimmern, R.L.3
Humphries, S.E.4
-
3
-
-
0022549920
-
A receptor-mediated pathway for cholesterol homeostasis
-
doi:10.1126/science.3513311
-
Brown, M.S., and Goldstein, J.L. 1986. A receptor-mediated pathway for cholesterol homeostasis. Science (Washington, D.C.), 232: 34-47. doi:10.1126/science.3513311.
-
(1986)
Science (Washington, D.C.)
, vol.232
, pp. 34-47
-
-
Brown, M.S.1
Goldstein, J.L.2
-
4
-
-
33646894099
-
Implications of copy-number variation in the human genome: A time for questions
-
doi:10.1038/nrg1884
-
Daar, A.S., Scherer, S.W., and Hegele, R.A. 2006. Implications of copy-number variation in the human genome: a time for questions. Nat. Rev. Genet. 7: 414. doi:10.1038/nrg1884.
-
(2006)
Nat. Rev. Genet
, vol.7
, pp. 414
-
-
Daar, A.S.1
Scherer, S.W.2
Hegele, R.A.3
-
5
-
-
31144469134
-
Structural variation in the human genome
-
doi:10. 1038/nrg1767
-
Feuk, L., Carson, A.R., and Scherer, S.W. 2006a. Structural variation in the human genome. Nat. Rev. Genet. 7: 85-97. doi:10. 1038/nrg1767.
-
(2006)
Nat. Rev. Genet
, vol.7
, pp. 85-97
-
-
Feuk, L.1
Carson, A.R.2
Scherer, S.W.3
-
6
-
-
33746363353
-
Structural variants: Changing the landscape of chromosomes and design of disease studies
-
doi:10.1093/hmg/ddl057
-
Feuk, L., Marshall, C.R., Wintle, R.F., and Scherer, S.W. 2006b. Structural variants: changing the landscape of chromosomes and design of disease studies. Hum. Mol. Genet. 15: R57-R66. doi:10.1093/hmg/ddl057.
-
(2006)
Hum. Mol. Genet
, vol.15
-
-
Feuk, L.1
Marshall, C.R.2
Wintle, R.F.3
Scherer, S.W.4
-
7
-
-
20044377204
-
The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility
-
doi:10.1126/science.1101160
-
Gonzalez, E., Kulkarni, H., Bolivar, H., Mangano, A., Sanchez, R., Catano, G., et al. 2005. The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility. Science (Washington, DC), 307: 1434-1440. doi:10.1126/science.1101160.
-
(2005)
Science (Washington, DC)
, vol.307
, pp. 1434-1440
-
-
Gonzalez, E.1
Kulkarni, H.2
Bolivar, H.3
Mangano, A.4
Sanchez, R.5
Catano, G.6
-
8
-
-
0025597137
-
The LDL receptor locus in familial hypercholesterolemia: Mutational analysis of a membrane protein
-
doi:10.1146/annurev.ge. 24.120190.001025
-
Hobbs, H.H., Russell, D.W., Brown, M.S., and Goldstein, J.L. 1990. The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein. Annu. Rev. Genet. 24: 133-170. doi:10.1146/annurev.ge. 24.120190.001025.
-
(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
-
9
-
-
0042387792
-
Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster
-
doi:10.1086/378157
-
Hollox, E.J., Armour, J.A., and Barber, J.C. 2003. Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster. Am. J. Hum. Genet. 73: 591-600. doi:10.1086/378157.
-
(2003)
Am. J. Hum. Genet
, vol.73
, pp. 591-600
-
-
Hollox, E.J.1
Armour, J.A.2
Barber, J.C.3
-
10
-
-
79959503826
-
The International HapMap Project
-
International HapMap Consortium, doi:10.1038/nature02168
-
International HapMap Consortium. 2003. The International HapMap Project. Nature (London), 426: 789-796. doi:10.1038/nature02168.
-
(2003)
Nature (London)
, vol.426
, pp. 789-796
-
-
-
11
-
-
0034648768
-
Atherosclerosis
-
doi:10.1038/35025203
-
Lusis, A.J. 2000. Atherosclerosis. Nature (London), 407: 233-241. doi:10.1038/35025203.
-
(2000)
Nature (London)
, vol.407
, pp. 233-241
-
-
Lusis, A.J.1
-
12
-
-
29444457877
-
Common deletion polymorphisms in the human genome
-
doi:10.1038/ng1696
-
McCarroll, S.A., Hadnott, T.N., Perry, G.H., Sabeti, P.C., Zody, M.C., Barrett, J.C., et al. 2006. Common deletion polymorphisms in the human genome. Nat. Genet. 38: 86-92. doi:10.1038/ng1696.
-
(2006)
Nat. Genet
, vol.38
, pp. 86-92
-
-
McCarroll, S.A.1
Hadnott, T.N.2
Perry, G.H.3
Sabeti, P.C.4
Zody, M.C.5
Barrett, J.C.6
-
13
-
-
84982342905
-
Xanthomata, hypercholesterolemia, angina pectoris
-
Müller, C. 1939. Xanthomata, hypercholesterolemia, angina pectoris. Acta Med. Scand. 89: 75-84.
-
(1939)
Acta Med. Scand
, vol.89
, pp. 75-84
-
-
Müller, C.1
-
14
-
-
0041743167
-
Monogenic hypercholesterolemia: New insights into pathogenesis and treatment
-
doi:10.1172/JCI200318925
-
Rader, D.J., Cohen, J., and Hobbs, H.H. 2003. Monogenic hypercholesterolemia: new insights into pathogenesis and treatment. J. Clin. Invest. 111: 1795-1803. doi:10.1172/JCI200318925.
-
(2003)
J. Clin. Invest
, vol.111
, pp. 1795-1803
-
-
Rader, D.J.1
Cohen, J.2
Hobbs, H.H.3
-
15
-
-
2342578875
-
MLPA and MAPH: New techniques for detection of gene deletions
-
doi:10.1002/humu.20035
-
Sellner, L.N., and Taylor, G.R. 2004. MLPA and MAPH: new techniques for detection of gene deletions. Hum. Mutat. 23: 413-419. doi:10.1002/humu.20035.
-
(2004)
Hum. Mutat
, vol.23
, pp. 413-419
-
-
Sellner, L.N.1
Taylor, G.R.2
-
16
-
-
18544398196
-
Low density lipoprotein receptor (LDLR) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent
-
doi:10.1002/humu.1205
-
Wang, J., Huff, E., Janecka, L., and Hegele, R.A. 2001. Low density lipoprotein receptor (LDLR) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent. Hum. Mutat. 18: 359. doi:10.1002/humu.1205.
-
(2001)
Hum. Mutat
, vol.18
, pp. 359
-
-
Wang, J.1
Huff, E.2
Janecka, L.3
Hegele, R.A.4
-
17
-
-
13944252816
-
Multiplex ligation-dependent probe amplification of LDLR enhances molecular diagnosis of familial hypercholesterolemia
-
Wang, J., Ban, M.R., and Hegele, R.A. 2005. Multiplex ligation-dependent probe amplification of LDLR enhances molecular diagnosis of familial hypercholesterolemia. J. Lipid Res. 46: 366-372.
-
(2005)
J. Lipid Res
, vol.46
, pp. 366-372
-
-
Wang, J.1
Ban, M.R.2
Hegele, R.A.3
-
18
-
-
34247342946
-
-
World Health Organization. 1999. DoNDP, familial hypercholesterolaemia: report of a second WHO consultation. Edited by Human Genetics. WHO, Geneva.
-
World Health Organization. 1999. DoNDP, familial hypercholesterolaemia: report of a second WHO consultation. Edited by Human Genetics. WHO, Geneva.
-
-
-
-
19
-
-
0027301629
-
Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics
-
doi:10.1016/0002-9149(93)90155-6
-
Williams, R.R., Hunt, S.C., Schumacher, M.C., Hegele, R.A., Leppert, M.F., Ludwig, E.H., and Hopkins, P.N. 1993. Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics. Am. J. Cardiol. 72: 171-176. doi:10.1016/0002-9149(93)90155-6.
-
(1993)
Am. J. Cardiol
, vol.72
, pp. 171-176
-
-
Williams, R.R.1
Hunt, S.C.2
Schumacher, M.C.3
Hegele, R.A.4
Leppert, M.F.5
Ludwig, E.H.6
Hopkins, P.N.7
-
20
-
-
33645928247
-
Heterozygous familial hypercholesterolemia: A underrecognized cause of early cardiovascular disease
-
Yuan, G., Wang, J., and Hegele, R.A. 2006. Heterozygous familial hypercholesterolemia: a underrecognized cause of early cardiovascular disease. CMAJ, 174: 1124-1129.
-
(2006)
CMAJ
, vol.174
, pp. 1124-1129
-
-
Yuan, G.1
Wang, J.2
Hegele, R.A.3
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