Phenotypic variability

Burren, C. P., Curley, A., Christie, P., Rodda, C. P., and Thakker, R. V. (2005) A family with autosomal dominant hypocalcaemia with hypercalciuria (ADHH) mutational analysis, phenotypic variability and treatment challenges. J. Pediatr. Endocrinol. Metab. 18, 9-99. 

Park, W.J., Meyers, G.A., Li, X., Theda, C., Day, D., Orlow, S.J., Jones, M.C., and Jabs, E.W. (1995) Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability. Hum Mol Genet 4 1229-1233. 

Pavlu-Pereira H, Asfaw B, Poupetova H, Ledvinova J, Sikora J, Vanier MT, Sandhoff K, Zeman J, Novaotna Z, Chudoba D, Elleder M (2005) Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study. J Inherit Metab Dis 28 203-227... 

Renault, P., Miot-Sertier, C., Marullo, P., Hernandez-Orte, P., Lagarrigue, L., Lonvaud-Funel, A., and Bely, M. (2009). Genetic characterization and phenotypic variability in Torulaspora delbrueckii species Potential applications in the wine industry. Int.. Food Microbiol. 134, 201-210. 

Ironside JW, Ritchie DL, Head MW (2005) Phenotypic variability in human prion diseases. Neuropathol Appl Neurobiol 31 565-579. 

Most TTR variants are associated with extracellular deposition of amyloid fibrils in various tissue. These autosomal dominant hereditary amyloidoses include amyloidotic cardiomyopathy, familial amyloidotic polyneuropathy, and senile systemic amyloidosis. There is phenotypic variability (e.g., variable age of onset), suggesting that other factors may influence pathogenesis of the diseases. 

Giardiello FM, Krush AJ, Peterson GM, Booker SV, Kerr M, Tong LL, et al. Phenotypic variability of famihal adenomatous polyposis in 11 unrelated fami-... 

Finsterer J, Jarius C, Eichberger H, Jaksch M. Phenotype variability in 130 adult patients with respiratory chain disorders. J Inherit Metab Dis 2001 24 560-76. 

Kalenga K, Persu A, Goffin E et al (2002) Intrafamilial phenotype variability in nephrogenic diabetes insipidus. Am J Kidney Dis 39 737-743... 

The excessive number of animals per test group is also pointed out and tackled with recommendations on the reduction of animal numbers. In particular, a better use of statistics in the design of experiments is recommended in order to reach an optimal compromise between animal number and variability of the results. The use of homogenous populations is advocated as a means to minimize interindividual variability if physiological variation between individual animals can be controlled, and statistical methods used to exploit this control to the full, the number of animals necessary for assay purposes can be dramatically reduced. This results, for instance, in the use of only one breed of rats for one set of tests, rather than a mixture of different breeds with the objective of mimicking the phenotypic variability of humans. This latter approach would result mainly on the study of the differences between breeds rather than the actual effects of the compound. 

Varela MC, Kok F, Otto PA, Koiffmann CP (2004) Phenotypic variability in Angelman syndrome comparison among different deletion classes and between deletion and UPD subjects. Eur J Hum Genet 12 987-992. 

Mutations in members of the neuroligin and neurexin families of trans-synaptic cell adhesion molecules have been implicated in human autism and mental retardation (Chih et al., 2004 Comoletti et al., 2004 Jamain et al., 2003 Laumonnier et al., 2004 Yan et al., 2005). The phenotypic variability from autism spectrum... 

Peterson, J. A. (1983). The widespread nature of phenotypic variability in hepatomas and cell lines, in the form of a geometric series. J Theor Biol 102(1), 41-53. 

Parchi P, Strammiello R, Giese A, Kretzschmar H (2011) Phenotypic variability of sporadic prion disease and its molecular basis past, present, future. Acta Neuropathol 121 91-112... 

---