Genotype-phenotype correlation

If the genotype-phenotype correlation is sufficiently high, an individual s phenotype can be predicted by the... 

Wang, Y., et al. Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency lack of genotype-phenotype correlation. Hum. Mutat. 2000, 16, 401-407. 

Brown RL, Pollock AN, Couchman KG, Hodges M, Hutchinson DO, Waa-ka R et al. A novel ryanodine receptor mutation and genotype-phenotype correlation in a large malignant hyperthermia New Zealand Maori pedigree. Hum Mol Genet 2000 9[10] 1515-1524. 

Yan L, Zhang S, Eiff B et al. Thiopurine methyltransferase polymorphic tandem repeat genotype-phenotype correlation analysis. Clin Pharmacol Ther 2000 68 210-219. 

Boerkoel, C. F., Takashima, H., Garcia, C. A. et al. Charcot-Marie-Tooth disease and related neuropathies. Mutation distribution and genotype-phenotype correlation. Ann. Neurol. 51 190-201,2002. 

La Spada, A. R., Roling, D. B., Harding, A. E. et al. Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy. Nat. Genet. 2 301-304,1992. 

Mandey SH, Schneiders MS, et al. (2006) Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency. Hum Mutat 27 796-802... 

How good are genotype-phenotype correlations Is the clinical picture fully explained by the genetic findings Is the disorder fully penetrant Are there additional, non-genetic factors of pathogenesis ... 

Ringpfeil, F., Raus, A., DiGiovanna, J. J., Korge, B., Harth, W., Mazzanti, C., Uitto, J., Bale, S. J., and Richard, G., 2001, Darier disease-novel mutations in ATP2A2 and genotype-phenotype correlation. 

Goyette R et al, Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/ phenotype correlations in severe methylenetetrahydrofolate reductase deficiency, Am J Hum Genet 1995 56(5) 1052-1059. 

Tassabehji M. Williams-Beuren syndrome a challenge for genotype-phenotype correlations. Hum Mol Genet 2003 12(2) R229-R237. 

Grabowski GA Gaucher disease gene frequencies and genotype/phenotype correlations. Genet Test 1 5-12,1997. 

PeyAL, Desviat LR, Gamez A, et al. Phenylketonuria genotype-phenotype correlations based on expression analysis of structural and functional mutations in PAH. Hum Mutat 21 370-378,2003. 

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