MeSH Review:
Molecular Diagnostic Techniques
- Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients. Levran, O., Desnick, R.J., Schuchman, E.H. Proc. Natl. Acad. Sci. U.S.A. (1991)
- Morphological spot counting from stacked images for automated analysis of gene copy numbers by fluorescence in situ hybridization. Grigoryan, A.M., Dougherty, E.R., Kononen, J., Bubendorf, L., Hostetter, G., Kallioniemi, O. Journal of biomedical optics. (2002)
- Fungal peritonitis in peritoneal dialysis patients. Prasad, N., Gupta, A. Peritoneal dialysis international : journal of the International Society for Peritoneal Dialysis. (2005)
- A 39-bp deletion polymorphism in PTEN in African American individuals: implications for molecular diagnostic testing. Zhou, X.P., Hampel, H., Roggenbuck, J., Saba, N., Prior, T.W., Eng, C. The Journal of molecular diagnostics : JMD. (2002)
- Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing. Wu, B.L., Lindeman, N., Lip, V., Adams, A., Amato, R.S., Cox, G., Irons, M., Kenna, M., Korf, B., Raisen, J., Platt, O. Genet. Med. (2002)
- D4F104S1 deletion in facioscapulohumeral muscular dystrophy: phenotype, size, and detection. Lemmers, R.J., Osborn, M., Haaf, T., Rogers, M., Frants, R.R., Padberg, G.W., Cooper, D.N., van der Maarel, S.M., Upadhyaya, M. Neurology (2003)
- HAEdb: a novel interactive, locus-specific mutation database for the C1 inhibitor gene. Kalmár, L., Hegedüs, T., Farkas, H., Nagy, M., Tordai, A. Hum. Mutat. (2005)
- Molecular diagnostic testing in Charcot-Marie-Tooth disease and related disorders. Approaches and results. De Jonghe, P., Nelis, E., Timmerman, V., Löfgren, A., Martin, J.J., Van Broeckhoven, C. Ann. N. Y. Acad. Sci. (1999)