-
1
-
-
56049116741
-
Common genetic variation and human disease
-
Orr N., and Chanock S. Common genetic variation and human disease. Adv Genet 62 (2008) 1-32
-
(2008)
Adv Genet
, vol.62
, pp. 1-32
-
-
Orr, N.1
Chanock, S.2
-
2
-
-
70449513058
-
Impact of adding a single allele in the 9p21 locus to traditional risk factors on reclassification of coronary heart disease risk and implications for lipid-modifying therapy in the atherosclerosis risk in communities study
-
Brautbar A., Ballantyne C.M., Lawson K., et al. Impact of adding a single allele in the 9p21 locus to traditional risk factors on reclassification of coronary heart disease risk and implications for lipid-modifying therapy in the atherosclerosis risk in communities study. Circ Cardiovasc Genet 2 (2009) 279-285
-
(2009)
Circ Cardiovasc Genet
, vol.2
, pp. 279-285
-
-
Brautbar, A.1
Ballantyne, C.M.2
Lawson, K.3
-
3
-
-
67649382518
-
ADME pharmacogenetics: current practices and future outlook
-
Grossman I. ADME pharmacogenetics: current practices and future outlook. Expert Opin Drug Metab Toxicol 5 (2009) 449-462
-
(2009)
Expert Opin Drug Metab Toxicol
, vol.5
, pp. 449-462
-
-
Grossman, I.1
-
4
-
-
53649102831
-
Clinical and pharmacogenetic factors associated with irinotecan toxicity
-
Kweekel D., Guchelaar H.J., and Gelderblom H. Clinical and pharmacogenetic factors associated with irinotecan toxicity. Cancer Treat Rev 34 (2008) 656-669
-
(2008)
Cancer Treat Rev
, vol.34
, pp. 656-669
-
-
Kweekel, D.1
Guchelaar, H.J.2
Gelderblom, H.3
-
5
-
-
45849107951
-
Clinical pharmacology and pharmacogenetics of thiopurines
-
Sahasranaman S., Howard D., and Roy S. Clinical pharmacology and pharmacogenetics of thiopurines. Eur J Clin Pharmacol 64 (2008) 753-767
-
(2008)
Eur J Clin Pharmacol
, vol.64
, pp. 753-767
-
-
Sahasranaman, S.1
Howard, D.2
Roy, S.3
-
9
-
-
58549088300
-
Revealing a subclinical salt-losing phenotype in heterozygous carriers of the novel S562P mutation in the alpha subunit of the epithelial sodium channel
-
Riepe F.G., van Bemmelen M.X., Cachat F., et al. Revealing a subclinical salt-losing phenotype in heterozygous carriers of the novel S562P mutation in the alpha subunit of the epithelial sodium channel. Clin Endocrinol 70 (2009) 252-258
-
(2009)
Clin Endocrinol
, vol.70
, pp. 252-258
-
-
Riepe, F.G.1
van Bemmelen, M.X.2
Cachat, F.3
-
10
-
-
48449101041
-
ATM gene mutations result in both recessive and dominant expression phenotypes of genes and microRNAs
-
Smirnov D.A., and Cheung V.G. ATM gene mutations result in both recessive and dominant expression phenotypes of genes and microRNAs. Am J Hum Genet 83 (2008) 243-253
-
(2008)
Am J Hum Genet
, vol.83
, pp. 243-253
-
-
Smirnov, D.A.1
Cheung, V.G.2
-
11
-
-
13844317890
-
The glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews
-
Zimran A., Neudorfer O., and Elstein D. The glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. N Engl J Med 352 (2005) 728-731
-
(2005)
N Engl J Med
, vol.352
, pp. 728-731
-
-
Zimran, A.1
Neudorfer, O.2
Elstein, D.3
-
12
-
-
34249028548
-
Potential role for the common cystic fibrosis DeltaF508 mutation in Crohn's disease
-
Bresso F., Askling J., Astegiano M., et al. Potential role for the common cystic fibrosis DeltaF508 mutation in Crohn's disease. Inflamm Bowel Dis 13 (2007) 531-536
-
(2007)
Inflamm Bowel Dis
, vol.13
, pp. 531-536
-
-
Bresso, F.1
Askling, J.2
Astegiano, M.3
-
13
-
-
35748964156
-
New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy
-
Houlden H., Groves M., Miedzybrodzka Z., et al. New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy. J Neurol Neurosurg Psychiatry 78 (2007) 1267-1270
-
(2007)
J Neurol Neurosurg Psychiatry
, vol.78
, pp. 1267-1270
-
-
Houlden, H.1
Groves, M.2
Miedzybrodzka, Z.3
-
14
-
-
36249024863
-
Recessive congenital total cataract with microcornea and heterozygote carrier signs caused by a novel missense CRYAA mutation (R54C)
-
Khan A.O., Aldahmesh M.A., and Meyer B. Recessive congenital total cataract with microcornea and heterozygote carrier signs caused by a novel missense CRYAA mutation (R54C). Am J Ophthalmol 144 (2007) 949-952
-
(2007)
Am J Ophthalmol
, vol.144
, pp. 949-952
-
-
Khan, A.O.1
Aldahmesh, M.A.2
Meyer, B.3
-
15
-
-
34447649380
-
Women heterozygous for NALP7/NLRP7 mutations are at risk for reproductive wastage: report of two novel mutations
-
Qian J., Deveault C., Bagga R., Xie X., and Slim R. Women heterozygous for NALP7/NLRP7 mutations are at risk for reproductive wastage: report of two novel mutations. Hum Mutat 28 (2007) 741
-
(2007)
Hum Mutat
, vol.28
, pp. 741
-
-
Qian, J.1
Deveault, C.2
Bagga, R.3
Xie, X.4
Slim, R.5
-
16
-
-
34547785606
-
Cancer genes associated with phenotypes in monoallelic and biallelic mutation carriers: new lessons from old players
-
Rahman N., and Scott R.H. Cancer genes associated with phenotypes in monoallelic and biallelic mutation carriers: new lessons from old players. Hum Mol Genet 16 (2007) R60-R66
-
(2007)
Hum Mol Genet
, vol.16
-
-
Rahman, N.1
Scott, R.H.2
-
17
-
-
36248933747
-
Do carriers of POLG mutation W748S have disease manifestations?
-
Rantamaki M., Luoma P., Virta J.J., et al. Do carriers of POLG mutation W748S have disease manifestations?. Clin Genet 72 (2007) 532-537
-
(2007)
Clin Genet
, vol.72
, pp. 532-537
-
-
Rantamaki, M.1
Luoma, P.2
Virta, J.J.3
-
18
-
-
0030734926
-
The sampling distribution of disease-associated alleles
-
Slatkin M., and Rannala B. The sampling distribution of disease-associated alleles. Genetics 147 (1997) 1855-1861
-
(1997)
Genetics
, vol.147
, pp. 1855-1861
-
-
Slatkin, M.1
Rannala, B.2
-
19
-
-
40749113123
-
Genotyping platforms for mass-throughput genotyping with SNPs, including human genome-wide scans
-
Maresso K., and Broeckel U. Genotyping platforms for mass-throughput genotyping with SNPs, including human genome-wide scans. Adv Genet 60 (2008) 107-139
-
(2008)
Adv Genet
, vol.60
, pp. 107-139
-
-
Maresso, K.1
Broeckel, U.2
-
20
-
-
42249087308
-
The complete genome of an individual by massively parallel DNA sequencing
-
Wheeler D.A., Srinivasan M., Egholm M., et al. The complete genome of an individual by massively parallel DNA sequencing. Nature 452 (2008) 872-876
-
(2008)
Nature
, vol.452
, pp. 872-876
-
-
Wheeler, D.A.1
Srinivasan, M.2
Egholm, M.3
|