Burgess T - Search Results

1

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: burgess t. Genet Med. 2018 Nov;20(11):1485. doi: 10.1038/gim.2017.266. Genet Med. 2018. PMID: 29388943 Free article.

2

Prenatal diagnosis of Prader-Willi syndrome using PW71 methylation analysis--uniparental disomy and the significance of residual trisomy 15.

Slater HR, Vaux C, Pertile M, Burgess T, Petrovic V. Slater HR, et al. Among authors: burgess t. Prenat Diagn. 1997 Feb;17(2):109-13. Prenat Diagn. 1997. PMID: 9061757

3

Identification of small FRAXA premutations.

Francis D, Burgess T, Mitchell J, Slater H. Francis D, et al. Among authors: burgess t. Mol Diagn. 2000 Sep;5(3):221-5. doi: 10.1054/modi.2000.9809. Mol Diagn. 2000. PMID: 11070156

4

Improved testing for CMT1A and HNPP using multiplex ligation-dependent probe amplification (MLPA) with rapid DNA preparations: comparison with the interphase FISH method.

Slater H, Bruno D, Ren H, La P, Burgess T, Hills L, Nouri S, Schouten J, Choo KH. Slater H, et al. Among authors: burgess t. Hum Mutat. 2004 Aug;24(2):164-71. doi: 10.1002/humu.20072. Hum Mutat. 2004. PMID: 15241798

5

High-throughput analysis of chromosome abnormality in spontaneous miscarriage using an MLPA subtelomere assay with an ancillary FISH test for polyploidy.

Bruno DL, Burgess T, Ren H, Nouri S, Pertile MD, Francis DI, Norris F, Kenney BK, Schouten J, Andy Choo KH, Slater HR. Bruno DL, et al. Among authors: burgess t. Am J Med Genet A. 2006 Dec 15;140(24):2786-93. doi: 10.1002/ajmg.a.31552. Am J Med Genet A. 2006. PMID: 17106871

6

A model for offering carrier screening for fragile X syndrome to nonpregnant women: results from a pilot study.

Metcalfe S, Jacques A, Archibald A, Burgess T, Collins V, Henry A, McNamee K, Sheffield L, Slater H, Wake S, Cohen J. Metcalfe S, et al. Among authors: burgess t. Genet Med. 2008 Jul;10(7):525-35. doi: 10.1097/gim.0b013e31817c036e. Genet Med. 2008. PMID: 18580686

7

4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment.

Yeung A, Bruno D, Scheffer IE, Carranza D, Burgess T, Slater HR, Amor DJ. Yeung A, et al. Among authors: burgess t. Eur J Med Genet. 2009 Nov-Dec;52(6):440-2. doi: 10.1016/j.ejmg.2009.09.004. Epub 2009 Sep 20. Eur J Med Genet. 2009. PMID: 19772934

8

Atypical Silver-Russell phenotype resulting from maternal uniparental disomy of chromosome 7.

Stark Z, Ryan MM, Bruno DL, Burgess T, Savarirayan R. Stark Z, et al. Among authors: burgess t. Am J Med Genet A. 2010 Sep;152A(9):2342-5. doi: 10.1002/ajmg.a.33590. Am J Med Genet A. 2010. PMID: 20684011

9

Phenotypic variability of distal 22q11.2 copy number abnormalities.

Tan TY, Collins A, James PA, McGillivray G, Stark Z, Gordon CT, Leventer RJ, Pope K, Forbes R, Crolla JA, Ganesamoorthy D, Burgess T, Bruno DL, Slater HR, Farlie PG, Amor DJ. Tan TY, et al. Among authors: burgess t. Am J Med Genet A. 2011 Jul;155A(7):1623-33. doi: 10.1002/ajmg.a.34051. Epub 2011 Jun 10. Am J Med Genet A. 2011. PMID: 21671380

10

Extending the scope of diagnostic chromosome analysis: detection of single gene defects using high-resolution SNP microarrays.

Bruno DL, Stark Z, Amor DJ, Burgess T, Butler K, Corrie S, Francis D, Ganesamoorthy D, Hills L, James PA, O'Rielly D, Oertel R, Savarirayan R, Prabhakara K, Salce N, Slater HR. Bruno DL, et al. Among authors: burgess t. Hum Mutat. 2011 Dec;32(12):1500-6. doi: 10.1002/humu.21581. Epub 2011 Sep 19. Hum Mutat. 2011. PMID: 21850686

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

563 results

Search Page

Filters