128 related articles for article (PubMed ID: 31661700)
1. 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; 92(5):335-339. PubMed ID: 31661700
[TBL] [Abstract][Full Text] [Related]
2. 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; 25(1-2):121-3. PubMed ID: 22570960
[TBL] [Abstract][Full Text] [Related]
3. A Duplication Upstream of SOX9 Associated with
Mengen E; Kayhan G; Kocaay P; Uçaktürk SA
J Clin Res Pediatr Endocrinol; 2020 Sep; 12(3):308-314. PubMed ID: 31476840
[TBL] [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
[TBL] [Abstract][Full Text] [Related]
5. 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
[TBL] [Abstract][Full Text] [Related]
6. 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; 14(6):e0218565. PubMed ID: 31220175
[TBL] [Abstract][Full Text] [Related]
7. 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
[TBL] [Abstract][Full Text] [Related]
8. 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
[TBL] [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; 167A(8):1851-8. PubMed ID: 25900885
[TBL] [Abstract][Full Text] [Related]
10. 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; 5():14696. PubMed ID: 26423656
[TBL] [Abstract][Full Text] [Related]
11. 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; 1(1):24-34. PubMed ID: 18391513
[TBL] [Abstract][Full Text] [Related]
12. Duplication of SOX9 is not a common cause of 46,XX testicular or 46,XX ovotesticular DSD.
Temel SG; Cangul H
J Pediatr Endocrinol Metab; 2013; 26(1-2):191. PubMed ID: 23457319
[No Abstract] [Full Text] [Related]
13. Investigation of mutations in the SRY, SOX9, and DAX1 genes in sex reversal patients from the Sichuan region of China.
Chen L; Ding XP; Wei X; Li LX
Genet Mol Res; 2014 Mar; 13(1):1518-26. PubMed ID: 24668626
[TBL] [Abstract][Full Text] [Related]
14. 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; 10(2):74-8. PubMed ID: 27089505
[TBL] [Abstract][Full Text] [Related]
15. 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
[TBL] [Abstract][Full Text] [Related]
16. 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
[TBL] [Abstract][Full Text] [Related]
17. 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; 191(12):2831-2836. PubMed ID: 37551848
[TBL] [Abstract][Full Text] [Related]
18. Sox9 duplications are a relevant cause of Sry-negative XX sex reversal dogs.
Rossi E; Radi O; De Lorenzi L; Vetro A; Groppetti D; Bigliardi E; Luvoni GC; Rota A; Camerino G; Zuffardi O; Parma P
PLoS One; 2014; 9(7):e101244. PubMed ID: 25010117
[TBL] [Abstract][Full Text] [Related]
19. 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
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
