Smith AC - Search Results

1

Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome.

Weksberg R, Shuman C, Caluseriu O, Smith AC, Fei YL, Nishikawa J, Stockley TL, Best L, Chitayat D, Olney A, Ives E, Schneider A, Bestor TH, Li M, Sadowski P, Squire J. Weksberg R, et al. Among authors: smith ac. Hum Mol Genet. 2002 May 15;11(11):1317-25. doi: 10.1093/hmg/11.11.1317. Hum Mol Genet. 2002. PMID: 12019213

2

Renal abnormalities in beckwith-wiedemann syndrome are associated with 11p15.5 uniparental disomy.

Goldman M, Smith A, Shuman C, Caluseriu O, Wei C, Steele L, Ray P, Sadowski P, Squire J, Weksberg R, Rosenblum ND. Goldman M, et al. J Am Soc Nephrol. 2002 Aug;13(8):2077-84. doi: 10.1097/01.asn.0000023431.16173.55. J Am Soc Nephrol. 2002. PMID: 12138139

3

Beckwith-Wiedemann syndrome demonstrates a role for epigenetic control of normal development.

Weksberg R, Smith AC, Squire J, Sadowski P. Weksberg R, et al. Among authors: smith ac. Hum Mol Genet. 2003 Apr 1;12 Spec No 1:R61-8. doi: 10.1093/hmg/ddg067. Hum Mol Genet. 2003. PMID: 12668598 Review.

4

Beckwith-Wiedemann syndrome.

Weksberg R, Shuman C, Smith AC. Weksberg R, et al. Among authors: smith ac. Am J Med Genet C Semin Med Genet. 2005 Aug 15;137C(1):12-23. doi: 10.1002/ajmg.c.30058. Am J Med Genet C Semin Med Genet. 2005. PMID: 16010676 Review.

5

Constitutional UPD for chromosome 11p15 in individuals with isolated hemihyperplasia is associated with high tumor risk and occurs following assisted reproductive technologies.

Shuman C, Smith AC, Steele L, Ray PN, Clericuzio C, Zackai E, Parisi MA, Meadows AT, Kelly T, Tichauer D, Squire JA, Sadowski P, Weksberg R. Shuman C, et al. Among authors: smith ac. Am J Med Genet A. 2006 Jul 15;140(14):1497-503. doi: 10.1002/ajmg.a.31323. Am J Med Genet A. 2006. PMID: 16770802

6

Severe presentation of Beckwith-Wiedemann syndrome associated with high levels of constitutional paternal uniparental disomy for chromosome 11p15.

Smith AC, Shuman C, Chitayat D, Steele L, Ray PN, Bourgeois J, Weksberg R. Smith AC, et al. Am J Med Genet A. 2007 Dec 15;143A(24):3010-5. doi: 10.1002/ajmg.a.32030. Am J Med Genet A. 2007. PMID: 18000906

7

Association of alveolar rhabdomyosarcoma with the Beckwith-Wiedemann syndrome.

Smith AC, Squire JA, Thorner P, Zielenska M, Shuman C, Grant R, Chitayat D, Nishikawa JL, Weksberg R. Smith AC, et al. Pediatr Dev Pathol. 2001 Nov-Dec;4(6):550-8. doi: 10.1007/s10024001-0110-6. Pediatr Dev Pathol. 2001. PMID: 11826361

8

New chromosome 11p15 epigenotypes identified in male monozygotic twins with Beckwith-Wiedemann syndrome.

Smith AC, Rubin T, Shuman C, Estabrooks L, Aylsworth AS, McDonald MT, Steele L, Ray PN, Weksberg R. Smith AC, et al. Cytogenet Genome Res. 2006;113(1-4):313-7. doi: 10.1159/000090847. Cytogenet Genome Res. 2006. PMID: 16575195

9

Altered gene expression and methylation of the human chromosome 11 imprinted region in small for gestational age (SGA) placentae.

Guo L, Choufani S, Ferreira J, Smith A, Chitayat D, Shuman C, Uxa R, Keating S, Kingdom J, Weksberg R. Guo L, et al. Dev Biol. 2008 Aug 1;320(1):79-91. doi: 10.1016/j.ydbio.2008.04.025. Epub 2008 Apr 27. Dev Biol. 2008. PMID: 18550048 Free article.

10

Advances in overgrowth syndromes: clinical classification to molecular delineation in Sotos syndrome and Beckwith-Wiedemann syndrome.

Cytrynbaum CS, Smith AC, Rubin T, Weksberg R. Cytrynbaum CS, et al. Among authors: smith ac. Curr Opin Pediatr. 2005 Dec;17(6):740-6. doi: 10.1097/01.mop.0000187191.74295.97. Curr Opin Pediatr. 2005. PMID: 16282780 Review.

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