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Detecting DNaseI-hypersensitivity sites with MLPA.
Ohnesorg T, Eggers S, White SJ. Ohnesorg T, et al. Among authors: white sj. Methods Mol Biol. 2012;786:201-10. doi: 10.1007/978-1-61779-292-2_12. Methods Mol Biol. 2012. PMID: 21938628
The many faces of MLPA.
Ohnesorg T, Turbitt E, White SJ. Ohnesorg T, et al. Among authors: white sj. Methods Mol Biol. 2011;687:193-205. doi: 10.1007/978-1-60761-944-4_13. Methods Mol Biol. 2011. PMID: 20967609
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. PLoS One. 2011 Mar 7;6(3):e17793. doi: 10.1371/journal.pone.0017793. PLoS One. 2011. PMID: 21408189 Free PMC article.
Hormonal evaluation in relation to phenotype and genotype in 286 patients with a disorder of sex development from Indonesia.
Juniarto AZ, van der Zwan YG, Santosa A, Ariani MD, Eggers S, Hersmus R, Themmen AP, Bruggenwirth HT, Wolffenbuttel KP, Sinclair A, White SJ, Looijenga LH, de Jong FH, Faradz SM, Drop SL. Juniarto AZ, et al. Among authors: white sj. Clin Endocrinol (Oxf). 2016 Aug;85(2):247-57. doi: 10.1111/cen.13051. Epub 2016 Apr 4. Clin Endocrinol (Oxf). 2016. PMID: 26935236
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. 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
559 results