Smith A - Search Results

1

Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1.

Weksberg R, Nishikawa J, Caluseriu O, Fei YL, Shuman C, Wei C, Steele L, Cameron J, Smith A, Ambus I, Li M, Ray PN, Sadowski P, Squire J. Weksberg R, et al. Among authors: smith a. Hum Mol Genet. 2001 Dec 15;10(26):2989-3000. doi: 10.1093/hmg/10.26.2989. Hum Mol Genet. 2001. PMID: 11751681

2

Familial unbalanced translocation t(8;15)(p23.3;q11) with uniparental disomy in Angelman syndrome.

Smith A, Deng ZM, Beran R, Woodage T, Trent RJ. Smith A, et al. Hum Genet. 1994 Apr;93(4):471-3. doi: 10.1007/BF00201679. Hum Genet. 1994. PMID: 8168819

3

Evaluation of methylation analysis for diagnostic testing in 258 referrals suspected of Prader-Willi or Angelman syndromes.

Buchholz T, Jackson J, Robson L, Smith A. Buchholz T, et al. Among authors: smith a. Hum Genet. 1998 Nov;103(5):535-9. doi: 10.1007/s004390050866. Hum Genet. 1998. PMID: 9860294

4

UBE3A "mutations" in two unrelated and phenotypically different Angelman syndrome patients.

Fung DC, Yu B, Cheong KF, Smith A, Trent RJ. Fung DC, et al. Among authors: smith a. Hum Genet. 1998 Apr;102(4):487-92. doi: 10.1007/s004390050727. Hum Genet. 1998. PMID: 9600250

5

Clinical features in four patients with Angelman syndrome resulting from paternal uniparental disomy.

Smith A, Marks R, Haan E, Dixon J, Trent RJ. Smith A, et al. J Med Genet. 1997 May;34(5):426-9. doi: 10.1136/jmg.34.5.426. J Med Genet. 1997. PMID: 9152844 Free PMC article.

6

Bloom syndrome and maternal uniparental disomy for chromosome 15.

Woodage T, Prasad M, Dixon JW, Selby RE, Romain DR, Columbano-Green LM, Graham D, Rogan PK, Seip JR, Smith A, et al. Woodage T, et al. Among authors: smith a. Am J Hum Genet. 1994 Jul;55(1):74-80. Am J Hum Genet. 1994. PMID: 7912890 Free PMC article.

7

A variety of genetic mechanisms are associated with the Prader-Willi syndrome.

Woodage T, Deng ZM, Prasad M, Smart R, Lindeman R, Christian SL, Ledbetter DH, Robson L, Smith A, Trent RJ. Woodage T, et al. Among authors: smith a. Am J Med Genet. 1994 Sep 15;54(3):219-26. doi: 10.1002/ajmg.1320540308. Am J Med Genet. 1994. PMID: 7810579

8

The elusive Angelman syndrome critical region.

Trent RJ, Sheffield LJ, Deng ZM, Kim WS, Nassif NT, Ryce C, Woods CG, Michaelis RC, Tarleton J, Smith A. Trent RJ, et al. Among authors: smith a. J Med Genet. 1997 Sep;34(9):714-8. doi: 10.1136/jmg.34.9.714. J Med Genet. 1997. PMID: 9321755 Free PMC article.

9

Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion.

Smith A, Wiles C, Haan E, McGill J, Wallace G, Dixon J, Selby R, Colley A, Marks R, Trent RJ. Smith A, et al. J Med Genet. 1996 Feb;33(2):107-12. doi: 10.1136/jmg.33.2.107. J Med Genet. 1996. PMID: 8929945 Free PMC article. Review.

10

Investigations with fluorescence in situ hybridization (FISH) demonstrate loss of the telomeres on the reciprocal chromosome in three unbalanced translocations involving chromosome 15 in the Prader-Willi and Angelman syndromes.

Jauch A, Robson L, Smith A. Jauch A, et al. Among authors: smith a. Hum Genet. 1995 Sep;96(3):345-9. doi: 10.1007/BF00210421. Hum Genet. 1995. PMID: 7649555

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