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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
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
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.
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.
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.
Generation and mutational analysis of a transgenic mouse model of human SRY.
Thomson E, Zhao L, Chen YS, Longmuss E, Ng ET, Sreenivasan R, Croft B, Song X, Sinclair A, Weiss M, Koopman P, Pelosi E. Thomson E, et al. Among authors: sreenivasan r. Hum Mutat. 2022 Mar;43(3):362-379. doi: 10.1002/humu.24318. Epub 2021 Dec 28. Hum Mutat. 2022. PMID: 34918413
Analysis of NR5A1 in 142 patients with premature ovarian insufficiency, diminished ovarian reserve, or unexplained infertility.
Jaillard S, Sreenivasan R, Beaumont M, Robevska G, Dubourg C, Knarston IM, Akloul L, van den Bergen J, Odent S, Croft B, Jouve G, Grover SR, Duros S, Pimentel C, Belaud-Rotureau MA, Ayers KL, Ravel C, Tucker EJ, Sinclair AH. Jaillard S, et al. Among authors: sreenivasan r. Maturitas. 2020 Jan;131:78-86. doi: 10.1016/j.maturitas.2019.10.011. Epub 2019 Nov 9. Maturitas. 2020. PMID: 31787151
79 results