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Journal Abstract Search

138 related items for PubMed ID: 34178900

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  • 3. SOX3 duplication in a boy with 46,XX ovotesticular disorder of sex development and his 46,XX sister with atypical genitalia: Probable germline mosaicism.
    de Oliveira FM, Barros BA, Dos Santos AP, Campos NLV, Mazzola TN, Filho PL, Andrade LALA, Guaragna MS, de Mello MP, Guerra-Junior G, Vieira TAP, Maciel-Guerra AT.
    Am J Med Genet A; 2023 Feb; 191(2):592-598. PubMed ID: 36416214
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  • 4. A Duplication Upstream of SOX9 Associated with SRY Negative 46,XX Ovotesticular Disorder of Sex Development: A Case Report.
    Mengen E, Kayhan G, Kocaay P, Uçaktürk SA.
    J Clin Res Pediatr Endocrinol; 2020 Sep 02; 12(3):308-314. PubMed ID: 31476840
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  • 6. The smallest dislocated microduplication of Xq27.1 harboring SOX3 gene associated with XX male phenotype.
    Oroz M, Vičić A, Požgaj Šepec M, Karnaš H, Stipančić G, Stipoljev F.
    J Pediatr Endocrinol Metab; 2023 Jan 27; 36(1):86-90. PubMed ID: 36189645
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  • 7. Duplication of The SOX3 Gene in an Sry-negative 46,XX Male with Associated Congenital Anomalies of Kidneys and the Urinary Tract: Case Report and Review of the Literature.
    Tasic V, Mitrotti A, Riepe FG, Kulle AE, Laban N, Polenakovic M, Plaseska-Karanfilska D, Sanna-Cherchi S, Kostovski M, Gucev Z.
    Balkan J Med Genet; 2019 Jun 27; 22(1):81-88. PubMed ID: 31523625
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  • 10. 46,XX ovotesticular DSD associated with a SOX3 gene duplication in a SRY-negative boy.
    Grinspon RP, Nevado J, Mori Alvarez Mde L, Del Rey G, Castera R, Venara M, Chiesa A, Podestá M, Lapunzina P, Rey RA.
    Clin Endocrinol (Oxf); 2016 Oct 27; 85(4):673-5. PubMed ID: 27260338
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  • 13. Duplication of SOX9 associated with 46,XX ovotesticular disorder of sex development.
    López-Hernández B, Méndez JP, Coral-Vázquez RM, Benítez-Granados J, Zenteno JC, Villegas-Ruiz V, Calzada-León R, Soderlund D, Canto P.
    Reprod Biomed Online; 2018 Jul 27; 37(1):107-112. PubMed ID: 29673731
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  • 14. Duplication of SOX9 is not a common cause of 46,XX testicular or 46,XX ovotesticular DSD.
    Seeherunvong T, Ukarapong S, McElreavey K, Berkovitz GD, Perera EM.
    J Pediatr Endocrinol Metab; 2012 Jul 27; 25(1-2):121-3. PubMed ID: 22570960
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  • 15. Methylation Patterns of SOX3, SOX9, and WNT4 Genes in Gonads of Dogs with XX (SRY-Negative) Disorder of Sexual Development.
    Salamon S, Flisikowski K, Switonski M.
    Sex Dev; 2017 Jul 27; 11(2):86-93. PubMed ID: 28365713
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  • 17. Interchromosomal insertional translocation at Xq26.3 alters SOX3 expression in an individual with XX male sex reversal.
    Haines B, Hughes J, Corbett M, Shaw M, Innes J, Patel L, Gecz J, Clayton-Smith J, Thomas P.
    J Clin Endocrinol Metab; 2015 May 27; 100(5):E815-20. PubMed ID: 25781358
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  • 18. Gonadoblastoma and Papillary Tubal Hyperplasia in Ovotesticular Disorder of Sexual Development.
    Şimşek E, Binay Ç, Demiral M, Tokar B, Kabukçuoğlu S, Üstün M.
    J Clin Res Pediatr Endocrinol; 2016 Sep 01; 8(3):351-5. PubMed ID: 27087521
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  • 19. A rare case of lateral ovotesticular disorder with Klinefelter syndrome mosaicism 46, XX/47, XXY: An unusual presentation.
    Talreja SM, Banerjee I, Yadav SS, Tomar V.
    Urol Ann; 2015 Sep 01; 7(4):520-3. PubMed ID: 26692679
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  • 20. Whole genome sequencing identifies a cryptic SOX9 regulatory element duplication underlying a case of 46,XX ovotesticular difference of sexual development.
    Qian Z, Grand K, Freedman A, Nieto MC, Behlmann A, Schweiger BM, Sanchez-Lara PA.
    Am J Med Genet A; 2021 Sep 01; 185(9):2782-2788. PubMed ID: 34050715
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