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454 results

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Page 1
Pierpont syndrome: a collaborative study.
Wright EM, Suri M, White SM, de Leeuw N, Vulto-van Silfhout AT, Stewart F, McKee S, Mansour S, Connell FC, Chopra M, Kirk EP, Devriendt K, Reardon W, Brunner H, Donnai D. Wright EM, et al. Among authors: white sm. Am J Med Genet A. 2011 Sep;155A(9):2203-11. doi: 10.1002/ajmg.a.34147. Epub 2011 Aug 10. Am J Med Genet A. 2011. PMID: 21834056 Free PMC article.
The adult phenotype in Costello syndrome.
White SM, Graham JM Jr, Kerr B, Gripp K, Weksberg R, Cytrynbaum C, Reeder JL, Stewart FJ, Edwards M, Wilson M, Bankier A. White SM, et al. Am J Med Genet A. 2005 Jul 15;136(2):128-35. doi: 10.1002/ajmg.a.30747. Am J Med Genet A. 2005. PMID: 15940703
The phenotype of Floating-Harbor syndrome in 10 patients.
White SM, Morgan A, Da Costa A, Lacombe D, Knight SJ, Houlston R, Whiteford ML, Newbury-Ecob RA, Hurst JA. White SM, et al. Am J Med Genet A. 2010 Apr;152A(4):821-9. doi: 10.1002/ajmg.a.33294. Am J Med Genet A. 2010. PMID: 20358590
De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome.
Simpson MA, Deshpande C, Dafou D, Vissers LE, Woollard WJ, Holder SE, Gillessen-Kaesbach G, Derks R, White SM, Cohen-Snuijf R, Kant SG, Hoefsloot LH, Reardon W, Brunner HG, Bongers EM, Trembath RC. Simpson MA, et al. Among authors: white sm. Am J Hum Genet. 2012 Feb 10;90(2):290-4. doi: 10.1016/j.ajhg.2011.11.024. Epub 2012 Jan 19. Am J Hum Genet. 2012. PMID: 22265017 Free PMC article.
Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency.
Sim JC, White SM, Fitzpatrick E, Wilson GR, Gillies G, Pope K, Mountford HS, Torring PM, McKee S, Vulto-van Silfhout AT, Jhangiani SN, Muzny DM, Leventer RJ, Delatycki MB, Amor DJ, Lockhart PJ. Sim JC, et al. Among authors: white sm. Orphanet J Rare Dis. 2014 Mar 27;9:43. doi: 10.1186/1750-1172-9-43. Orphanet J Rare Dis. 2014. PMID: 24674232 Free PMC article.
454 results