Du Sart D - Search Results

1

Dentatorubral-pallidoluysian atrophy in three generations, with clinical courses from nearly asymptomatic elderly to severe juvenile, in an Australian family of Macedonian descent.

Vinton A, Fahey MC, O'Brien TJ, Shaw J, Storey E, Gardner RJ, Mitchell PJ, Du Sart D, King JO. Vinton A, et al. Among authors: du sart d. Am J Med Genet A. 2005 Jul 15;136(2):201-4. doi: 10.1002/ajmg.a.30355. Am J Med Genet A. 2005. PMID: 15948186

2

Spinocerebellar ataxia type 14: study of a family with an exon 5 mutation in the PRKCG gene.

Fahey MC, Knight MA, Shaw JH, Gardner RJ, du Sart D, Lockhart PJ, Delatycki MB, Gates PC, Storey E. Fahey MC, et al. Among authors: du sart d. J Neurol Neurosurg Psychiatry. 2005 Dec;76(12):1720-2. doi: 10.1136/jnnp.2004.044115. J Neurol Neurosurg Psychiatry. 2005. PMID: 16291902 Free PMC article.

3

Frequency of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Australian patients with spinocerebellar ataxia.

Storey E, du Sart D, Shaw JH, Lorentzos P, Kelly L, McKinley Gardner RJ, Forrest SM, Biros I, Nicholson GA. Storey E, et al. Among authors: du sart d. Am J Med Genet. 2000 Dec 11;95(4):351-7. doi: 10.1002/1096-8628(20001211)95:4<351::aid-ajmg10>3.0.co;2-r. Am J Med Genet. 2000. PMID: 11186889

4

A novel deletion-insertion mutation identified in exon 3 of FXN in two siblings with a severe Friedreich ataxia phenotype.

Evans-Galea MV, Corben LA, Hasell J, Galea CA, Fahey MC, du Sart D, Delatycki MB. Evans-Galea MV, et al. Among authors: du sart d. Neurogenetics. 2011 Nov;12(4):307-13. doi: 10.1007/s10048-011-0296-3. Epub 2011 Aug 10. Neurogenetics. 2011. PMID: 21830088

5

Prevalence and nature of connexin 26 mutations in children with non-syndromic deafness.

Dahl HH, Saunders K, Kelly TM, Osborn AH, Wilcox S, Cone-Wesson B, Wunderlich JL, Du Sart D, Kamarinos M, Gardner RJ, Dennehy S, Williamson R, Vallance N, Mutton P. Dahl HH, et al. Among authors: du sart d. Med J Aust. 2001 Aug 20;175(4):191-4. doi: 10.5694/j.1326-5377.2001.tb143093.x. Med J Aust. 2001. PMID: 11587277

6

FMR1 allele size distribution in 35,000 males and females: a comparison of developmental delay and general population cohorts.

Kraan CM, Bui QM, Field M, Archibald AD, Metcalfe SA, Christie LM, Bennetts BH, Oertel R, Smith MJ, du Sart D, Bruno D, Wotton TL, Amor DJ, Francis D, Godler DE. Kraan CM, et al. Among authors: du sart d. Genet Med. 2018 Dec;20(12):1627-1634. doi: 10.1038/gim.2018.52. Epub 2018 Mar 29. Genet Med. 2018. PMID: 29595813 Free article.

7

Mosaic inv dup(8p) marker chromosome with stable neocentromere suggests neocentromerization is a post-zygotic event.

Voullaire L, Saffery R, Earle E, Irvine DV, Slater H, Dale S, du Sart D, Fleming T, Choo KH. Voullaire L, et al. Among authors: du sart d. Am J Med Genet. 2001 Jul 22;102(1):86-94. doi: 10.1002/1096-8628(20010722)102:1<86::aid-ajmg1390>3.0.co;2-t. Am J Med Genet. 2001. PMID: 11471179

8

X chromosome inactivation in fibroblasts of mentally retarded female carriers of the fragile site Xq27.3: application of the probe M27 beta to evaluate X inactivation status.

Schmidt M, Du Sart D, Kalitsis P, Fraser N, Leversha M, Voullaire L, Foster D, Davies J, Hills L, Petrovic V, et al. Schmidt M, et al. Among authors: du sart d. Am J Med Genet. 1991 Feb-Mar;38(2-3):411-5. doi: 10.1002/ajmg.1320380252. Am J Med Genet. 1991. PMID: 1673316

9

Noninactivation of a portion of Xq28 in a balanced X-autosome translocation.

Du Sart D, Kalitsis P, Schmidt M. Du Sart D, et al. Am J Med Genet. 1992 Jan 15;42(2):156-60. doi: 10.1002/ajmg.1320420204. Am J Med Genet. 1992. PMID: 1733163

10

Functional disomies of the X chromosome influence the cell selection and hence the X inactivation pattern in females with balanced X-autosome translocations: a review of 122 cases.

Schmidt M, Du Sart D. Schmidt M, et al. Among authors: du sart d. Am J Med Genet. 1992 Jan 15;42(2):161-9. doi: 10.1002/ajmg.1320420205. Am J Med Genet. 1992. PMID: 1733164 Review.

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