Smith AC - Search Results

1

Screening of DNA methylation at the H19 promoter or the distal region of its ICR1 ensures efficient detection of chromosome 11p15 epimutations in Russell-Silver syndrome.

Horike S, Ferreira JC, Meguro-Horike M, Choufani S, Smith AC, Shuman C, Meschino W, Chitayat D, Zackai E, Scherer SW, Weksberg R. Horike S, et al. Among authors: smith ac. Am J Med Genet A. 2009 Nov;149A(11):2415-23. doi: 10.1002/ajmg.a.33065. Am J Med Genet A. 2009. PMID: 19876907

2

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.

3

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.

4

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

5

Growth regulation, imprinted genes, and chromosome 11p15.5.

Smith AC, Choufani S, Ferreira JC, Weksberg R. Smith AC, et al. Pediatr Res. 2007 May;61(5 Pt 2):43R-47R. doi: 10.1203/pdr.0b013e3180457660. Pediatr Res. 2007. PMID: 17413842 Review.

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

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

8

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

9

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.

10

Maternal gametic transmission of translocations or inversions of human chromosome 11p15.5 results in regional DNA hypermethylation and downregulation of CDKN1C expression.

Smith AC, Suzuki M, Thompson R, Choufani S, Higgins MJ, Chiu IW, Squire JA, Greally JM, Weksberg R. Smith AC, et al. Genomics. 2012 Jan;99(1):25-35. doi: 10.1016/j.ygeno.2011.10.007. Epub 2011 Nov 3. Genomics. 2012. PMID: 22079941 Free PMC article.

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