Smith A - Search Results

1

Novel karyotype in the Ullrich-Turner syndrome--45,X/46,X,r(X)/46,X, dic(X)--investigated with fluorescence in situ hybridization.

Robson L, Jackson J, Cowell C, Sillence D, Smith A. Robson L, et al. Among authors: smith a. Am J Med Genet. 1994 Apr 15;50(3):251-4. doi: 10.1002/ajmg.1320500308. Am J Med Genet. 1994. PMID: 8042669

2

Smith A, St Heaps L, Robson L. Smith A, et al. Am J Med Genet. 2002 Dec 15;113(4):346-50. doi: 10.1002/ajmg.10800. Am J Med Genet. 2002. PMID: 12457406

3

A 3 1/2 year old girl with distal trisomy 19q defined by FISH.

James C, Jauch A, Robson L, Watson N, Smith A. James C, et al. Among authors: smith a. J Med Genet. 1996 Sep;33(9):795-7. doi: 10.1136/jmg.33.9.795. J Med Genet. 1996. PMID: 8880586 Free PMC article.

4

The Wolf-Hirschhorn syndrome in adulthood: evaluation of a 24-year-old man with a rec(4) chromosome.

Ogle R, Sillence DO, Merrick A, Ell J, Lo B, Robson L, Smith A. Ogle R, et al. Among authors: smith a. Am J Med Genet. 1996 Oct 16;65(2):124-7. doi: 10.1002/(SICI)1096-8628(19961016)65:2<124::AID-AJMG8>3.0.CO;2-S. Am J Med Genet. 1996. PMID: 8911603

5

Karyotype 69,XXX/47,XX,+15 in a 2 1/2 year old child.

Dean J, Cohen G, Kemp J, Robson L, Tembe V, Hasselaar J, Webster B, Lammi A, Smith A. Dean J, et al. Among authors: smith a. J Med Genet. 1997 Mar;34(3):246-9. doi: 10.1136/jmg.34.3.246. J Med Genet. 1997. PMID: 9132499 Free PMC article.

6

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

7

Duplication within chromosome 5q characterized by fluorescence in situ hybridization.

Mowat D, Jauch A, Robson L, Smith A. Mowat D, et al. Among authors: smith a. Am J Med Genet. 1999 Apr 23;83(5):361-4. doi: 10.1002/(sici)1096-8628(19990423)83:5<361::aid-ajmg3>3.0.co;2-w. Am J Med Genet. 1999. PMID: 10232743

8

Syndromal obesity due to paternal duplication 6(q24.3-q27).

Smith A, Jauch A, Slater H, Robson L, Sandanam T. Smith A, et al. Am J Med Genet. 1999 May 21;84(2):125-31. doi: 10.1002/(sici)1096-8628(19990521)84:2<125::aid-ajmg8>3.0.co;2-w. Am J Med Genet. 1999. PMID: 10323737

9

Novel chromosome 16 abnormality--der(16)del(16) (q13)t(16;21)(p11.2;q22)--associated with acute myeloid leukemia.

Sharma P, Watson N, Robson L, Gallo J, Smith A. Sharma P, et al. Among authors: smith a. Cancer Genet Cytogenet. 1999 Aug;113(1):25-8. doi: 10.1016/s0165-4608(99)00008-4. Cancer Genet Cytogenet. 1999. PMID: 10459342

10

Mosaic rearrangement of chromosome 18: characterization by FISH mapping and DNA studies shows trisomy 18p and monosomy 18p both of paternal origin.

Oner G, Jauch A, Eggermann T, Hardwick R, Kirsch S, Schiebel K, Rappold G, Robson L, Smith A. Oner G, et al. Among authors: smith a. Am J Med Genet. 2000 May 15;92(2):101-6. Am J Med Genet. 2000. PMID: 10797432

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