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221 results

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Page 1
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.
Eggers S, Sadedin S, van den Bergen JA, Robevska G, Ohnesorg T, Hewitt J, Lambeth L, Bouty A, Knarston IM, Tan TY, Cameron F, Werther G, Hutson J, O'Connell M, Grover SR, Heloury Y, Zacharin M, Bergman P, Kimber C, Brown J, Webb N, Hunter MF, Srinivasan S, Titmuss A, Verge CF, Mowat D, Smith G, Smith J, Ewans L, Shalhoub C, Crock P, Cowell C, Leong GM, Ono M, Lafferty AR, Huynh T, Visser U, Choong CS, McKenzie F, Pachter N, Thompson EM, Couper J, Baxendale A, Gecz J, Wheeler BJ, Jefferies C, MacKenzie K, Hofman P, Carter P, King RI, Krausz C, van Ravenswaaij-Arts CM, Looijenga L, Drop S, Riedl S, Cools M, Dawson A, Juniarto AZ, Khadilkar V, Khadilkar A, Bhatia V, Dũng VC, Atta I, Raza J, Thi Diem Chi N, Hao TK, Harley V, Koopman P, Warne G, Faradz S, Oshlack A, Ayers KL, Sinclair AH. Eggers S, et al. Genome Biol. 2016 Nov 29;17(1):243. doi: 10.1186/s13059-016-1105-y. Genome Biol. 2016. PMID: 27899157 Free PMC article.
Detecting DNaseI-hypersensitivity sites with MLPA.
Ohnesorg T, Eggers S, White SJ. Ohnesorg T, et al. Among authors: eggers s. Methods Mol Biol. 2012;786:201-10. doi: 10.1007/978-1-61779-292-2_12. Methods Mol Biol. 2012. PMID: 21938628
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: eggers s. 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
Genetic regulation of mammalian gonad development.
Eggers S, Ohnesorg T, Sinclair A. Eggers S, et al. Nat Rev Endocrinol. 2014 Nov;10(11):673-83. doi: 10.1038/nrendo.2014.163. Epub 2014 Sep 23. Nat Rev Endocrinol. 2014. PMID: 25246082 Review.
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: eggers s. Clin Endocrinol (Oxf). 2016 Aug;85(2):247-57. doi: 10.1111/cen.13051. Epub 2016 Apr 4. Clin Endocrinol (Oxf). 2016. PMID: 26935236
Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development.
Robevska G, van den Bergen JA, Ohnesorg T, Eggers S, Hanna C, Hersmus R, Thompson EM, Baxendale A, Verge CF, Lafferty AR, Marzuki NS, Santosa A, Listyasari NA, Riedl S, Warne G, Looijenga L, Faradz S, Ayers KL, Sinclair AH. Robevska G, et al. Among authors: eggers s. Hum Mutat. 2018 Jan;39(1):124-139. doi: 10.1002/humu.23354. Epub 2017 Nov 2. Hum Mutat. 2018. PMID: 29027299 Free PMC article.
221 results