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Deletion of the immunoglobulin domain of IL1RAPL1 results in nonsyndromic X-linked intellectual disability associated with behavioral problems and mild dysmorphism.
Franek KJ, Butler J, Johnson J, Simensen R, Friez MJ, Bartel F, Moss T, DuPont B, Berry K, Bauman M, Skinner C, Stevenson RE, Schwartz CE. Franek KJ, et al. Among authors: schwartz ce. Am J Med Genet A. 2011 May;155A(5):1109-14. doi: 10.1002/ajmg.a.33833. Epub 2011 Apr 11. Am J Med Genet A. 2011. PMID: 21484992
Relationship between age and IQ among fragile X males: a multicenter study.
Fisch GS, Arinami T, Froster-Iskenius U, Fryns JP, Curfs LM, Borghgraef M, Howard-Peebles PN, Schwartz CE, Simensen RJ, Shapiro LR. Fisch GS, et al. Among authors: schwartz ce. Am J Med Genet. 1991 Feb-Mar;38(2-3):481-7. doi: 10.1002/ajmg.1320380268. Am J Med Genet. 1991. PMID: 2018090
Allan-Herndon syndrome. I. Clinical studies.
Stevenson RE, Goodman HO, Schwartz CE, Simensen RJ, McLean WT Jr, Herndon CN. Stevenson RE, et al. Among authors: schwartz ce. Am J Hum Genet. 1990 Sep;47(3):446-53. Am J Hum Genet. 1990. PMID: 2393019 Free PMC article.
Fragile X syndrome: growth, development, and intellectual function.
Prouty LA, Rogers RC, Stevenson RE, Dean JH, Palmer KK, Simensen RJ, Coston GN, Schwartz CE. Prouty LA, et al. Among authors: schwartz ce. Am J Med Genet. 1988 May-Jun;30(1-2):123-42. doi: 10.1002/ajmg.1320300111. Am J Med Genet. 1988. PMID: 3177438
573 results