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Narrowing critical regions and determining penetrance for selected 18q- phenotypes.
Cody JD, Heard PL, Crandall AC, Carter EM, Li J, Hardies LJ, Lancaster J, Perry B, Stratton RF, Sebold C, Schaub RL, Soileau B, Hill A, Hasi M, Fox PT, Hale DE. Cody JD, et al. Am J Med Genet A. 2009 Jul;149A(7):1421-30. doi: 10.1002/ajmg.a.32899. Am J Med Genet A. 2009. PMID: 19533771 Free PMC article.
Tetrasomy 18p: report of the molecular and clinical findings of 43 individuals.
Sebold C, Roeder E, Zimmerman M, Soileau B, Heard P, Carter E, Schatz M, White WA, Perry B, Reinker K, O'Donnell L, Lancaster J, Li J, Hasi M, Hill A, Pankratz L, Hale DE, Cody JD. Sebold C, et al. Am J Med Genet A. 2010 Sep;152A(9):2164-72. doi: 10.1002/ajmg.a.33597. Am J Med Genet A. 2010. PMID: 20803640
Ring 18 molecular assessment and clinical consequences.
Carter E, Heard P, Hasi M, Soileau B, Sebold C, Hale DE, Cody JD. Carter E, et al. Am J Med Genet A. 2015 Jan;167A(1):54-63. doi: 10.1002/ajmg.a.36822. Epub 2014 Oct 22. Am J Med Genet A. 2015. PMID: 25339348
26 results