Turbitt E - Search Results

1

A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development.

White S, Hewitt J, Turbitt E, van der Zwan Y, Hersmus R, Drop S, Koopman P, Harley V, Cools M, Looijenga L, Sinclair A. White S, et al. Among authors: turbitt e. Eur J Hum Genet. 2012 Mar;20(3):348-51. doi: 10.1038/ejhg.2011.204. Epub 2011 Nov 9. Eur J Hum Genet. 2012. PMID: 22071891 Free PMC article.

2

The many faces of MLPA.

Ohnesorg T, Turbitt E, White SJ. Ohnesorg T, et al. Among authors: turbitt e. Methods Mol Biol. 2011;687:193-205. doi: 10.1007/978-1-60761-944-4_13. Methods Mol Biol. 2011. PMID: 20967609

3

Identification of SOX3 as an XX male sex reversal gene in mice and humans.

Sutton E, Hughes J, White S, Sekido R, Tan J, Arboleda V, Rogers N, Knower K, Rowley L, Eyre H, Rizzoti K, McAninch D, Goncalves J, Slee J, Turbitt E, Bruno D, Bengtsson H, Harley V, Vilain E, Sinclair A, Lovell-Badge R, Thomas P. Sutton E, et al. Among authors: turbitt e. J Clin Invest. 2011 Jan;121(1):328-41. doi: 10.1172/JCI42580. Epub 2010 Dec 22. J Clin Invest. 2011. PMID: 21183788 Free PMC article.

4

Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis.

White S, Ohnesorg T, Notini A, Roeszler K, Hewitt J, Daggag H, Smith C, Turbitt E, Gustin S, van den Bergen J, Miles D, Western P, Arboleda V, Schumacher V, Gordon L, Bell K, Bengtsson H, Speed T, Hutson J, Warne G, Harley V, Koopman P, Vilain E, Sinclair A. White S, et al. Among authors: turbitt e. PLoS One. 2011 Mar 7;6(3):e17793. doi: 10.1371/journal.pone.0017793. PLoS One. 2011. PMID: 21408189 Free PMC article.

5

CITED2 mutations potentially cause idiopathic premature ovarian failure.

Fonseca DJ, Ojeda D, Lakhal B, Braham R, Eggers S, Turbitt E, White S, Grover S, Warne G, Zacharin M, Nevin Lam A, Landolsi H, Elghezal H, Saâd A, Restrepo CM, Fellous M, Sinclair A, Koopman P, Laissue P. Fonseca DJ, et al. Among authors: turbitt e. Transl Res. 2012 Nov;160(5):384-8. doi: 10.1016/j.trsl.2012.05.006. Epub 2012 Jun 16. Transl Res. 2012. PMID: 22709740

6

SRY mutation analysis by next generation (deep) sequencing in a cohort of chromosomal Disorders of Sex Development (DSD) patients with a mosaic karyotype.

Hersmus R, Stoop H, Turbitt E, Oosterhuis JW, Drop SL, Sinclair AH, White SJ, Looijenga LH. Hersmus R, et al. Among authors: turbitt e. BMC Med Genet. 2012 Nov 16;13:108. doi: 10.1186/1471-2350-13-108. BMC Med Genet. 2012. PMID: 23157850 Free PMC article.

7

Availability of treatment drives decisions of genetic health professionals about disclosure of incidental findings.

Turbitt E, Wiest MM, Halliday JL, Amor DJ, Metcalfe SA. Turbitt E, et al. Eur J Hum Genet. 2014 Oct;22(10):1225-8. doi: 10.1038/ejhg.2014.11. Epub 2014 Feb 5. Eur J Hum Genet. 2014. PMID: 24496062 Free PMC article.

8

Key informants' perspectives of implementing chromosomal microarrays into clinical practice in Australia.

Turbitt E, Halliday JL, Metcalfe SA. Turbitt E, et al. Twin Res Hum Genet. 2013 Aug;16(4):833-9. doi: 10.1017/thg.2013.43. Twin Res Hum Genet. 2013. PMID: 23870679

9

Australians' views on personal genomic testing: focus group findings from the Genioz study.

Metcalfe SA, Hickerton C, Savard J, Terrill B, Turbitt E, Gaff C, Gray K, Middleton A, Wilson B, Newson AJ. Metcalfe SA, et al. Among authors: turbitt e. Eur J Hum Genet. 2018 Aug;26(8):1101-1112. doi: 10.1038/s41431-018-0151-1. Epub 2018 Apr 30. Eur J Hum Genet. 2018. PMID: 29706641 Free PMC article.

10

Australians' views and experience of personal genomic testing: survey findings from the Genioz study.

Savard J, Hickerton C, Tytherleigh R, Terrill B, Turbitt E, Newson AJ, Wilson B, Gray K, Gaff C, Middleton A, Stackpoole E, Metcalfe SA. Savard J, et al. Among authors: turbitt e. Eur J Hum Genet. 2019 May;27(5):711-720. doi: 10.1038/s41431-018-0325-x. Epub 2019 Jan 21. Eur J Hum Genet. 2019. PMID: 30666046 Free PMC article.

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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

86 results

Search Page