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Page 1
Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency.
Beck DB, Petracovici A, He C, Moore HW, Louie RJ, Ansar M, Douzgou S, Sithambaram S, Cottrell T, Santos-Cortez RLP, Prijoles EJ, Bend R, Keren B, Mignot C, Nougues MC, Õunap K, Reimand T, Pajusalu S, Zahid M, Saqib MAN, Buratti J, Seaby EG, McWalter K, Telegrafi A, Baldridge D, Shinawi M, Leal SM, Schaefer GB, Stevenson RE, Banka S, Bonasio R, Fahrner JA. Beck DB, et al. Among authors: stevenson re. Am J Hum Genet. 2020 Feb 6;106(2):234-245. doi: 10.1016/j.ajhg.2019.12.007. Epub 2020 Jan 9. Am J Hum Genet. 2020. PMID: 31928709 Free PMC article.
Allan-Herndon syndrome. II. Linkage to DNA markers in Xq21.
Schwartz CE, Ulmer J, Brown A, Pancoast I, Goodman HO, Stevenson RE. Schwartz CE, et al. Among authors: stevenson re. Am J Hum Genet. 1990 Sep;47(3):454-8. Am J Hum Genet. 1990. PMID: 2393020 Free PMC article.
X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28.
Hahn KA, Salomons GS, Tackels-Horne D, Wood TC, Taylor HA, Schroer RJ, Lubs HA, Jakobs C, Olson RL, Holden KR, Stevenson RE, Schwartz CE. Hahn KA, et al. Among authors: stevenson re. Am J Hum Genet. 2002 May;70(5):1349-56. doi: 10.1086/340092. Epub 2002 Mar 15. Am J Hum Genet. 2002. PMID: 11898126 Free PMC article.
Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene.
Schwartz CE, May MM, Carpenter NJ, Rogers RC, Martin J, Bialer MG, Ward J, Sanabria J, Marsa S, Lewis JA, Echeverri R, Lubs HA, Voeller K, Simensen RJ, Stevenson RE. Schwartz CE, et al. Among authors: stevenson re. Am J Hum Genet. 2005 Jul;77(1):41-53. doi: 10.1086/431313. Epub 2005 May 11. Am J Hum Genet. 2005. PMID: 15889350 Free PMC article.
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: stevenson re. 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
Clinical utility of the X-chromosome array.
Zarate YA, Dwivedi A, Bartel FO, Bellomo MA, Cathey SS, Champaigne NL, Clarkson LK, Dupont BR, Everman DB, Geer JS, Gordon BC, Lichty AW, Lyons MJ, Rogers RC, Saul RA, Schroer RJ, Skinner SA, Stevenson RE. Zarate YA, et al. Among authors: stevenson re. Am J Med Genet A. 2013 Jan;161A(1):120-30. doi: 10.1002/ajmg.a.35698. Epub 2012 Dec 3. Am J Med Genet A. 2013. PMID: 23208842
Novel pathogenic variants in FOXP3 in fetuses with echogenic bowel and skin desquamation identified by ultrasound.
Louie RJ, Tan QK, Gilner JB, Rogers RC, Younge N, Wechsler SB, McDonald MT, Gordon B, Saski CA, Jones JR, Chapman SJ, Stevenson RE, Sleasman JW, Friez MJ. Louie RJ, et al. Among authors: stevenson re. Am J Med Genet A. 2017 May;173(5):1219-1225. doi: 10.1002/ajmg.a.38144. Epub 2017 Mar 20. Am J Med Genet A. 2017. PMID: 28317311 Free PMC article.
295 results