du Sart D - Search Results

1

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

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

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

4

Implementation of HaemScreen, a workplace-based genetic screening program for hemochromatosis.

Nisselle AE, Delatycki MB, Collins V, Metcalfe S, Aitken MA, du Sart D, Halliday J, Macciocca I, Wakefield A, Hill V, Gason A, Warner B, Calabro V, Williamson R, Allen KJ. Nisselle AE, et al. Among authors: du sart d. Clin Genet. 2004 May;65(5):358-67. doi: 10.1111/j.1399-0004.2004.0239.x. Clin Genet. 2004. PMID: 15099342

5

Community-wide screening for cystic fibrosis carriers could replace newborn screening for the diagnosis of cystic fibrosis.

Massie J, Forbes R, Dusart D, Bankier A, Delatycki MB. Massie J, et al. J Paediatr Child Health. 2007 Nov;43(11):721-3. doi: 10.1111/j.1440-1754.2007.01224.x. J Paediatr Child Health. 2007. PMID: 17924936

6

Use of community genetic screening to prevent HFE-associated hereditary haemochromatosis.

Delatycki MB, Allen KJ, Nisselle AE, Collins V, Metcalfe S, du Sart D, Halliday J, Aitken MA, Macciocca I, Hill V, Wakefield A, Ritchie A, Gason AA, Nicoll AJ, Powell LW, Williamson R. Delatycki MB, et al. Among authors: du sart d. Lancet. 2005 Jul 23-29;366(9482):314-6. doi: 10.1016/S0140-6736(05)63012-7. Lancet. 2005. PMID: 16039334

7

Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests.

Archibald AD, Smith MJ, Burgess T, Scarff KL, Elliott J, Hunt CE, McDonald Z, Barns-Jenkins C, Holt C, Sandoval K, Siva Kumar V, Ward L, Allen EC, Collis SV, Cowie S, Francis D, Delatycki MB, Yiu EM, Massie RJ, Pertile MD, du Sart D, Bruno D, Amor DJ. Archibald AD, et al. Among authors: du sart d. Genet Med. 2018 Apr;20(5):513-523. doi: 10.1038/gim.2017.134. Epub 2017 Oct 26. Genet Med. 2018. PMID: 29261177 Free article.

8

Correction: Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests.

Archibald AD, Smith MJ, Burgess T, Scarff KL, Elliott J, Hunt CE, Barns-Jenkins C, Holt C, Sandoval K, Kumar VS, Ward L, Allen EC, Collis SV, Cowie S, Francis D, Delatycki MB, Yiu EM, Massie RJ, Pertile MD, du Sart D, Bruno D, Amor DJ. Archibald AD, et al. Among authors: du sart d. Genet Med. 2018 Nov;20(11):1485. doi: 10.1038/gim.2017.266. Genet Med. 2018. PMID: 29388943 Free article.

9

Population-based carrier screening for cystic fibrosis in Victoria: the first three years experience.

Massie J, Petrou V, Forbes R, Curnow L, Ioannou L, Dusart D, Bankier A, Delatycki M. Massie J, et al. Aust N Z J Obstet Gynaecol. 2009 Oct;49(5):484-9. doi: 10.1111/j.1479-828X.2009.01045.x. Aust N Z J Obstet Gynaecol. 2009. PMID: 19780730

10

Detection of mutations in genes associated with hearing loss using a microarray-based approach.

Siemering K, Manji SS, Hutchison WM, Du Sart D, Phelan D, Dahl HH. Siemering K, et al. Among authors: du sart d. J Mol Diagn. 2006 Sep;8(4):483-9; quiz 528. doi: 10.2353/jmoldx.2006.050147. J Mol Diagn. 2006. PMID: 16931589 Free PMC article.

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