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Renal aplasia in humans is associated with RET mutations.
Skinner MA, Safford SD, Reeves JG, Jackson ME, Freemerman AJ. Skinner MA, et al. Am J Hum Genet. 2008 Feb;82(2):344-51. doi: 10.1016/j.ajhg.2007.10.008. Epub 2008 Jan 31. Am J Hum Genet. 2008. PMID: 18252215 Free PMC article.
A human yeast artificial chromosome containing the multiple endocrine neoplasia type 2B Ret mutation does not induce medullary thyroid carcinoma but does support the growth of kidneys and partially rescues enteric nervous system development in Ret-deficient mice.
Skinner MA, Kalyanaraman S, Safford SD, Heuckeroth RO, Tourtellotte W, Goyeau D, Goodfellow P, Milbrandt JD, Freemerman A. Skinner MA, et al. Am J Pathol. 2005 Jan;166(1):265-74. doi: 10.1016/S0002-9440(10)62250-X. Am J Pathol. 2005. PMID: 15632018 Free PMC article.
Thyroid and parathyroid disease in children.
Safford SD, Skinner MA. Safford SD, et al. Among authors: skinner ma. Semin Pediatr Surg. 2006 May;15(2):85-91. doi: 10.1053/j.sempedsurg.2006.02.005. Semin Pediatr Surg. 2006. PMID: 16616311 Review.
290 results