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Retrospective Study of Obesity in Children with Down Syndrome.
Basil JS, Santoro SL, Martin LJ, Healy KW, Chini BA, Saal HM. Basil JS, et al. Among authors: santoro sl. J Pediatr. 2016 Jun;173:143-8. doi: 10.1016/j.jpeds.2016.02.046. Epub 2016 Mar 14. J Pediatr. 2016. PMID: 26987801
A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.
Twigg SRF, Hufnagel RB, Miller KA, Zhou Y, McGowan SJ, Taylor J, Craft J, Taylor JC, Santoro SL, Huang T, Hopkin RJ, Brady AF, Clayton-Smith J, Clericuzio CL, Grange DK, Groesser L, Hafner C, Horn D, Temple IK, Dobyns WB, Curry CJ, Jones MC, Wilkie AOM. Twigg SRF, et al. Among authors: santoro sl. Am J Hum Genet. 2016 Jun 2;98(6):1256-1265. doi: 10.1016/j.ajhg.2016.04.007. Epub 2016 May 26. Am J Hum Genet. 2016. PMID: 27236920 Free PMC article.
Co-occurring medical conditions in adults with Down syndrome: A systematic review toward the development of health care guidelines.
Capone GT, Chicoine B, Bulova P, Stephens M, Hart S, Crissman B, Videlefsky A, Myers K, Roizen N, Esbensen A, Peterson M, Santoro S, Woodward J, Martin B, Smith D; Down Syndrome Medical Interest Group DSMIG-USA Adult Health Care Workgroup. Capone GT, et al. Am J Med Genet A. 2018 Jan;176(1):116-133. doi: 10.1002/ajmg.a.38512. Epub 2017 Nov 12. Am J Med Genet A. 2018. PMID: 29130597 Review.
80 results