Smith A - Search Results

1

Comprehensive methylation analysis in typical and atypical PWS and AS patients with normal biparental chromosomes 15.

Runte M, Färber C, Lich C, Zeschnigk M, Buchholz T, Smith A, Van Maldergem L, Bürger J, Muscatelli F, Gillessen-Kaesbach G, Horsthemke B, Buiting K. Runte M, et al. Among authors: smith a. Eur J Hum Genet. 2001 Jul;9(7):519-26. doi: 10.1038/sj.ejhg.5200661. Eur J Hum Genet. 2001. PMID: 11464243

2

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

3

Diagnostic testing for Prader-Willi and Angelman syndromes: response.

Smith A, Buchholz T, Robson L. Smith A, et al. Am J Hum Genet. 1997 Jul;61(1):241-4. doi: 10.1016/S0002-9297(07)64300-6. Am J Hum Genet. 1997. PMID: 9246009 Free PMC article. No abstract available.

4

Methylation analysis at three different loci within the imprinted region of chromosome 15q11-13.

Buchholz T, Jackson J, Smith A. Buchholz T, et al. Among authors: smith a. Am J Med Genet. 1997 Oct 3;72(1):117-9. Am J Med Genet. 1997. PMID: 9295088 No abstract available.

5

Rett syndrome: significant clinical overlap with Angelman syndrome but not with methylation status.

Ellaway C, Buchholz T, Smith A, Leonard H, Christodoulou J. Ellaway C, et al. Among authors: smith a. J Child Neurol. 1998 Sep;13(9):448-51. doi: 10.1177/088307389801300907. J Child Neurol. 1998. PMID: 9733292

6

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

7

Molecular analysis of an extra inv dup(15)(q13) chromosome in two patients with Angelman syndrome.

Buchholz T, Schuffenhauer S, Evans K, Robson L, Appleton B, Smith A. Buchholz T, et al. Among authors: smith a. Acta Genet Med Gemellol (Roma). 1996;45(1-2):217-20. doi: 10.1017/s0001566000001331. Acta Genet Med Gemellol (Roma). 1996. PMID: 8872034 No abstract available.

8

Manifestations in institutionalised adults with Angelman syndrome due to deletion.

Sandanam T, Beange H, Robson L, Woolnough H, Buchholz T, Smith A. Sandanam T, et al. Among authors: smith a. Am J Med Genet. 1997 Jun 27;70(4):415-20. doi: 10.1002/(sici)1096-8628(19970627)70:4<415::aid-ajmg16>3.0.co;2-k. Am J Med Genet. 1997. PMID: 9182785

9

A de novo unbalanced reciprocal translocation identified as paternal in origin in the Prader-Willi syndrome.

Smith A, Lindeman R, Volpato F, Kearney A, White S, Haan E, Trent RJ. Smith A, et al. Hum Genet. 1991 Mar;86(5):534-6. doi: 10.1007/BF00194651. Hum Genet. 1991. PMID: 2016095

10

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

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