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Journal Abstract Search

233 related items for PubMed ID: 25900885

  • 1. Refining the regulatory region upstream of SOX9 associated with 46,XX testicular disorders of Sex Development (DSD).
    Hyon C, Chantot-Bastaraud S, Harbuz R, Bhouri R, Perrot N, Peycelon M, Sibony M, Rojo S, Piguel X, Bilan F, Gilbert-Dussardier B, Kitzis A, McElreavey K, Siffroi JP, Bashamboo A.
    Am J Med Genet A; 2015 Aug; 167A(8):1851-8. PubMed ID: 25900885
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  • 3. 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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  • 4. Association between polymorphisms in the SOX9 region and canine disorder of sex development (78,XX; SRY-negative) revisited in a multibreed case-control study.
    Nowacka-Woszuk J, Szczerbal I, Stachowiak M, Szydlowski M, Nizanski W, Dzimira S, Maslak A, Payan-Carreira R, Wydooghe E, Nowak T, Switonski M.
    PLoS One; 2019 Sep 02; 14(6):e0218565. PubMed ID: 31220175
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  • 5. 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.
    J Med Genet; 2011 Dec 02; 48(12):825-30. PubMed ID: 22051515
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  • 6. 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 Dec 02; 25(1-2):121-3. PubMed ID: 22570960
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  • 7. 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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  • 8. Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3.
    Vetro A, Dehghani MR, Kraoua L, Giorda R, Beri S, Cardarelli L, Merico M, Manolakos E, Parada-Bustamante A, Castro A, Radi O, Camerino G, Brusco A, Sabaghian M, Sofocleous C, Forzano F, Palumbo P, Palumbo O, Calvano S, Zelante L, Grammatico P, Giglio S, Basly M, Chaabouni M, Carella M, Russo G, Bonaglia MC, Zuffardi O.
    Eur J Hum Genet; 2015 Aug 14; 23(8):1025-32. PubMed ID: 25351776
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  • 9. The smallest likely pathogenic duplication of a SOX9 enhancer identified to date in a family with 46,XX testicular differences of sex development.
    Sajan SA, Brown CM, Davis-Keppen L, Burns K, Royer E, Coleman JAC, Hilton BA, DuPont BR, Perry DL, Taft RJ, Kesari A.
    Am J Med Genet A; 2023 Dec 14; 191(12):2831-2836. PubMed ID: 37551848
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  • 10. 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 14; 56(12):695-8. PubMed ID: 24140641
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  • 12. 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 14; 12(4):5659-64. PubMed ID: 26260363
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  • 13. RevSex duplication-induced and sex-related differences in the SOX9 regulatory region chromatin landscape in human fibroblasts.
    Lybæk H, de Bruijn D, den Engelsman-van Dijk AH, Vanichkina D, Nepal C, Brendehaug A, Houge G.
    Epigenetics; 2014 Mar 14; 9(3):416-27. PubMed ID: 24351654
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  • 14. 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 14; 37(1):107-112. PubMed ID: 29673731
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  • 15. A Rare Case of Testicular Disorder of Sex Development in a Dog (78,XX; SRY-Negative) with Male External Genitalia and Detection of Copy Number Variation in the Region Upstream of the SOX9 Gene.
    Szczerbal I, Nowacka-Woszuk J, Dzimira S, Atamaniuk W, Nizanski W, Switonski M.
    Sex Dev; 2016 Jul 14; 10(2):74-8. PubMed ID: 27089505
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  • 16. Deep sequencing of a candidate region harboring the SOX9 gene for the canine XX disorder of sex development.
    Nowacka-Woszuk J, Szczerbal I, Pausch H, Hundi S, Hytönen MK, Grzemski A, Flisikowski K, Lohi H, Switonski M, Szydlowski M.
    Anim Genet; 2017 Jun 14; 48(3):330-337. PubMed ID: 28094446
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  • 17. Copy number variation in the region harboring SOX9 gene in dogs with testicular/ovotesticular disorder of sex development (78,XX; SRY-negative).
    Marcinkowska-Swojak M, Szczerbal I, Pausch H, Nowacka-Woszuk J, Flisikowski K, Dzimira S, Nizanski W, Payan-Carreira R, Fries R, Kozlowski P, Switonski M.
    Sci Rep; 2015 Oct 01; 5():14696. PubMed ID: 26423656
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  • 18. Similar Cause, Different Phenotype: SOX9 Enhancer Duplication in a Family.
    Pinti E, Piko H, Lengyel A, Luczay A, Karcagi V, Fekete G, Haltrich I.
    Horm Res Paediatr; 2019 Oct 01; 92(5):335-339. PubMed ID: 31661700
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  • 19. Extended pedigree with multiple cases of XX sex reversal in the absence of SRY and of a mutation at the SOX9 locus.
    Temel SG, Gulten T, Yakut T, Saglam H, Kilic N, Bausch E, Jin WJ, Leipoldt M, Scherer G.
    Sex Dev; 2007 Oct 01; 1(1):24-34. PubMed ID: 18391513
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