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Journal Abstract Search

214 related items for PubMed ID: 34050715

  • 21. Female-to-male sex reversal associated with unique Xp21.2 deletion disrupting genomic regulatory architecture of the dosage-sensitive sex reversal region.
    Dangle P, Touzon MS, Reyes-Múgica M, Witchel SF, Rajkovic A, Schneck FX, Yatsenko SA.
    J Med Genet; 2017 Oct; 54(10):705-709. PubMed ID: 28483799
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  • 22. A duplication upstream of SOX9 was not positively correlated with the SRY‑negative 46,XX testicular disorder of sex development: A case report and literature review.
    Xia XY, Zhang C, Li TF, Wu QY, Li N, Li WW, Cui YX, Li XJ, Shi YC.
    Mol Med Rep; 2015 Oct; 12(4):5659-64. PubMed ID: 26260363
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  • 24. A rare case of 46, XX SRY-negative male with approximately 74-kb duplication in a region upstream of SOX9.
    Xiao B, Ji X, Xing Y, Chen YW, Tao J.
    Eur J Med Genet; 2013 Dec; 56(12):695-8. PubMed ID: 24140641
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  • 25. 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.
    Nat Commun; 2018 Dec 14; 9(1):5319. PubMed ID: 30552336
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  • 28. The Spectrum of Ovotesticular Disorders of Sex Development in South Africa: A Single-Centre Experience.
    Ganie Y, Aldous C, Balakrishna Y, Wiersma R.
    Horm Res Paediatr; 2017 Dec 14; 87(5):307-314. PubMed ID: 28376506
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  • 29. SRY-negative 46,XX testicular/ovotesticular DSD: Long-term outcomes and early blockade of gonadotropic axis.
    Lambert S, Peycelon M, Samara-Boustani D, Hyon C, Dumeige L, Peuchmaur M, Fiot E, Léger J, Simon D, Paye-Jaouen A, Bouligand J, Siffroi JP, Carel JC, McElreavey K, El Ghoneimi A, Brachet C, Bouvattier C, Martinerie L.
    Clin Endocrinol (Oxf); 2021 Apr 14; 94(4):667-676. PubMed ID: 33296530
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  • 32. Testicular differentiation in 46,XX DSD: an overview of genetic causes.
    Ferrari MTM, Silva ESDN, Nishi MY, Batista RL, Mendonca BB, Domenice S.
    Front Endocrinol (Lausanne); 2024 Apr 14; 15():1385901. PubMed ID: 38721146
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  • 36. Partial deletion of DMRT1 causes 46,XY ovotesticular disorder of sexual development.
    Ledig S, Hiort O, Wünsch L, Wieacker P.
    Eur J Endocrinol; 2012 Jul 14; 167(1):119-24. PubMed ID: 22573722
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  • 37. NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.
    Baetens D, Stoop H, Peelman F, Todeschini AL, Rosseel T, Coppieters F, Veitia RA, Looijenga LH, De Baere E, Cools M.
    Genet Med; 2017 Apr 14; 19(4):367-376. PubMed ID: 27490115
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  • 38. Whole-genome de novo sequencing reveals genomic variants associated with differences of sex development in SRY negative pigs.
    Wu J, Tan S, Feng Z, Zhao H, Yu C, Yang Y, Zhong B, Zheng W, Yu H, Li H.
    Biol Sex Differ; 2024 Sep 02; 15(1):68. PubMed ID: 39223676
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  • 39. A clue to the etiology of disorders of sex development from identity-by-descent analysis in dogs with cryptic relatedness.
    Szydlowski M.
    Anim Genet; 2023 Apr 02; 54(2):166-176. PubMed ID: 36437751
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  • 40. Painful ovulation in a 46,XX SRY -ve adult male with SOX9 duplication.
    Shankara Narayana N, Kean AM, Ewans L, Ohnesorg T, Ayers KL, Watson G, Vasilaras A, Sinclair AH, Twigg SM, Handelsman DJ.
    Endocrinol Diabetes Metab Case Rep; 2017 Apr 02; 2017():. PubMed ID: 28620497
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