Trent RJ - Search Results

1

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. Among authors: trent rj. 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.

2

Occurrence of the alpha thalassaemia-mental retardation syndrome (non-deletional type) in an Australian male.

Harvey MP, Kearney A, Smith A, Trent RJ. Harvey MP, et al. Among authors: trent rj. J Med Genet. 1990 Sep;27(9):577-81. doi: 10.1136/jmg.27.9.577. J Med Genet. 1990. PMID: 2231651 Free PMC article. Review.

3

Molecular and cytogenetic studies of the Prader-Willi syndrome.

Trent RJ, Volpato F, Smith A, Lindeman R, Wong MK, Warne G, Haan E. Trent RJ, et al. J Med Genet. 1991 Oct;28(10):649-54. doi: 10.1136/jmg.28.10.649. J Med Genet. 1991. PMID: 1682493 Free PMC article.

4

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. Among authors: trent rj. Hum Genet. 1994 Apr;93(4):471-3. doi: 10.1007/BF00201679. Hum Genet. 1994. PMID: 8168819

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. Among authors: trent rj. 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

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. 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.

7

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: trent rj. Hum Genet. 1998 Apr;102(4):487-92. doi: 10.1007/s004390050727. Hum Genet. 1998. PMID: 9600250

8

Comparison of high resolution cytogenetics, fluorescence in situ hybridisation, and DNA studies to validate the diagnosis of Prader-Willi and Angelman's syndromes.

Smith A, Prasad M, Deng ZM, Robson L, Woodage T, Trent RJ. Smith A, et al. Among authors: trent rj. Arch Dis Child. 1995 May;72(5):397-402. doi: 10.1136/adc.72.5.397. Arch Dis Child. 1995. PMID: 7618904 Free PMC article.

9

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: trent rj. Am J Med Genet. 1994 Sep 15;54(3):219-26. doi: 10.1002/ajmg.1320540308. Am J Med Genet. 1994. PMID: 7810579

10

Novel patterns of inheritance of genetic disease are illustrated by the Angelman syndrome.

Deng ZM, Woodage T, Smart R, Smith A, Trent RJ. Deng ZM, et al. Among authors: trent rj. Med J Aust. 1993 Jun 21;158(12):813-6. doi: 10.5694/j.1326-5377.1993.tb137668.x. Med J Aust. 1993. PMID: 8326891

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