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Page 1
Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development.
Benko S, Gordon CT, Mallet D, Sreenivasan R, Thauvin-Robinet C, Brendehaug A, Thomas S, Bruland O, David M, Nicolino M, Labalme A, Sanlaville D, Callier P, Malan V, Huet F, Molven A, Dijoud F, Munnich A, Faivre L, Amiel J, Harley V, Houge G, Morel Y, Lyonnet S. Benko S, et al. Among authors: sreenivasan r. J Med Genet. 2011 Dec;48(12):825-30. doi: 10.1136/jmedgenet-2011-100255. Epub 2011 Nov 2. J Med Genet. 2011. PMID: 22051515
Altered SOX9 genital tubercle enhancer region in hypospadias.
Sreenivasan R, Gordon CT, Benko S, de Iongh R, Bagheri-Fam S, Lyonnet S, Harley V. Sreenivasan R, et al. J Steroid Biochem Mol Biol. 2017 Jun;170:28-38. doi: 10.1016/j.jsbmb.2016.10.009. Epub 2016 Oct 29. J Steroid Biochem Mol Biol. 2017. PMID: 27989796
Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9.
Croft B, Ohnesorg T, Hewitt J, Bowles J, Quinn A, Tan J, Corbin V, Pelosi E, van den Bergen J, Sreenivasan R, Knarston I, Robevska G, Vu DC, Hutson J, Harley V, Ayers K, Koopman P, Sinclair A. Croft B, et al. Among authors: sreenivasan r. Nat Commun. 2018 Dec 14;9(1):5319. doi: 10.1038/s41467-018-07784-9. Nat Commun. 2018. PMID: 30552336 Free PMC article.
A 46,XY female DSD patient with bilateral gonadoblastoma, a novel SRY missense mutation combined with a WT1 KTS splice-site mutation.
Hersmus R, van der Zwan YG, Stoop H, Bernard P, Sreenivasan R, Oosterhuis JW, Brüggenwirth HT, de Boer S, White S, Wolffenbuttel KP, Alders M, McElreavy K, Drop SL, Harley VR, Looijenga LH. Hersmus R, et al. Among authors: sreenivasan r. PLoS One. 2012;7(7):e40858. doi: 10.1371/journal.pone.0040858. Epub 2012 Jul 18. PLoS One. 2012. PMID: 22815844 Free PMC article.
Author Correction: Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9.
Croft B, Ohnesorg T, Hewitt J, Bowles J, Quinn A, Tan J, Corbin V, Pelosi E, van den Bergen J, Sreenivasan R, Knarston I, Robevska G, Vu DC, Hutson J, Harley V, Ayers K, Koopman P, Sinclair A. Croft B, et al. Among authors: sreenivasan r. Nat Commun. 2019 Jul 23;10(1):3351. doi: 10.1038/s41467-019-11310-w. Nat Commun. 2019. PMID: 31337757 Free PMC article.
80 results