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153 related items for PubMed ID: 24351654
1. 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; 9(3):416-27. PubMed ID: 24351654 [Abstract] [Full Text] [Related]
2. 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; 48(12):825-30. PubMed ID: 22051515 [Abstract] [Full Text] [Related]
3. 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; 37(1):107-112. PubMed ID: 29673731 [Abstract] [Full Text] [Related]
4. Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development. Kim GJ, Sock E, Buchberger A, Just W, Denzer F, Hoepffner W, German J, Cole T, Mann J, Seguin JH, Zipf W, Costigan C, Schmiady H, Rostásy M, Kramer M, Kaltenbach S, Rösler B, Georg I, Troppmann E, Teichmann AC, Salfelder A, Widholz SA, Wieacker P, Hiort O, Camerino G, Radi O, Wegner M, Arnold HH, Scherer G. J Med Genet; 2015 Apr; 52(4):240-7. PubMed ID: 25604083 [Abstract] [Full Text] [Related]
6. 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; 23(8):1025-32. PubMed ID: 25351776 [Abstract] [Full Text] [Related]
7. 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; 185(9):2782-2788. PubMed ID: 34050715 [Abstract] [Full Text] [Related]
8. 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 [Abstract] [Full Text] [Related]
9. 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 01; 167A(8):1851-8. PubMed ID: 25900885 [Abstract] [Full Text] [Related]
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 01; 56(12):695-8. PubMed ID: 24140641 [Abstract] [Full Text] [Related]
11. 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 [Abstract] [Full Text] [Related]
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 Dec 14; 25(1-2):121-3. PubMed ID: 22570960 [Abstract] [Full Text] [Related]
19. Sox9 gene regulation and the loss of the XY/XX sex-determining mechanism in the mole vole Ellobius lutescens. Bagheri-Fam S, Sreenivasan R, Bernard P, Knower KC, Sekido R, Lovell-Badge R, Just W, Harley VR. Chromosome Res; 2012 Jan 14; 20(1):191-9. PubMed ID: 22215485 [Abstract] [Full Text] [Related]