393 related articles for article (PubMed ID: 23624391)
21. Three novel SRY mutations in XY gonadal dysgenesis and the enigma of XY gonadal dysgenesis cases without SRY mutations.
Scherer G; Held M; Erdel M; Meschede D; Horst J; Lesniewicz R; Midro AT
Cytogenet Cell Genet; 1998; 80(1-4):188-92. PubMed ID: 9678356
[TBL] [Abstract][Full Text] [Related]
22. A novel SRY missense mutation affecting nuclear import in a 46,XY female patient with bilateral gonadoblastoma.
Hersmus R; de Leeuw BH; Stoop H; Bernard P; van Doorn HC; Brüggenwirth HT; Drop SL; Oosterhuis JW; Harley VR; Looijenga LH
Eur J Hum Genet; 2009 Dec; 17(12):1642-9. PubMed ID: 19513096
[TBL] [Abstract][Full Text] [Related]
23. Analysis of the sex-determining region of the Y chromosome (SRY) in sex reversed patients: point-mutation in SRY causing sex-reversion in a 46,XY female.
Müller J; Schwartz M; Skakkebaek NE
J Clin Endocrinol Metab; 1992 Jul; 75(1):331-3. PubMed ID: 1619028
[TBL] [Abstract][Full Text] [Related]
24. A de novo phe671eu mutation in the SRY gene in a patient with complete 46,XY gonadal dysgenesis.
Zenteno JC; Carranza-Lira S; Jiménez AL; Kofman S
J Endocrinol Invest; 2003 Nov; 26(11):1117-9. PubMed ID: 15008251
[TBL] [Abstract][Full Text] [Related]
25. A novel SRY gene mutation c.266 A>T (p.E89V) in a 46,XY complete gonadal dysgenesis patient.
Raveendran SK; Ramachandran L; Joseph L; Asokan AK; Raj S; George A; James J
Andrologia; 2019 Oct; 51(9):e13377. PubMed ID: 31361042
[TBL] [Abstract][Full Text] [Related]
26. 46, XY gonadal dysgenesis: new SRY point mutation in two siblings with paternal germ line mosaicism.
Stoppa-Vaucher S; Ayabe T; Paquette J; Patey N; Francoeur D; Vuissoz JM; Deladoëy J; Samuels ME; Ogata T; Deal CL
Clin Genet; 2012 Dec; 82(6):505-13. PubMed ID: 22288726
[TBL] [Abstract][Full Text] [Related]
27. The novel p.E89K mutation in the SRY gene inhibits DNA binding and causes the 46,XY disorder of sex development.
Cunha JL; Soardi FC; Bernardi RD; Oliveira LE; Benedetti CE; Guerra-Junior G; Maciel-Guerra AT; de Mello MP
Braz J Med Biol Res; 2011 Apr; 44(4):361-5. PubMed ID: 21344134
[TBL] [Abstract][Full Text] [Related]
28. Loss of sequences 3' to the testis-determining gene, SRY, including the Y pseudoautosomal boundary associated with partial testicular determination.
McElreavey K; Vilain E; Barbaux S; Fuqua JS; Fechner PY; Souleyreau N; Doco-Fenzy M; Gabriel R; Quereux C; Fellous M; Berkovitz GD
Proc Natl Acad Sci U S A; 1996 Aug; 93(16):8590-4. PubMed ID: 8710915
[TBL] [Abstract][Full Text] [Related]
29. [XY type gonadal dysgenesis, trisomy X and variants].
Kikuchi I; Takeuchi H; Kinoshita K
Nihon Rinsho; 2004 Feb; 62(2):309-12. PubMed ID: 14968537
[TBL] [Abstract][Full Text] [Related]
30. [A Case of 46,XY pure gonadal dysgenesis with loss of the sex-determining region of Y chromosome].
Yoon KH; Lee YJ
Korean J Lab Med; 2008 Apr; 28(2):151-4. PubMed ID: 18458512
[TBL] [Abstract][Full Text] [Related]
31. A case report of 46,XY partial gonadal dysgenesis caused by a novel mutation in the sex-determining region gene.
Xu K; Su N; Zhang H; Zhu J; Cheng X
Transl Pediatr; 2020 Dec; 9(6):867-872. PubMed ID: 33457310
[TBL] [Abstract][Full Text] [Related]
32. Biochemical defects in eight SRY missense mutations causing XY gonadal dysgenesis.
Mitchell CL; Harley VR
Mol Genet Metab; 2002 Nov; 77(3):217-25. PubMed ID: 12409269
[TBL] [Abstract][Full Text] [Related]
33. Epigenetic abnormality of SRY gene in the adult XY female with pericentric inversion of the Y chromosome.
Mitsuhashi T; Warita K; Sugawara T; Tabuchi Y; Takasaki I; Kondo T; Hayashi F; Wang ZY; Matsumoto Y; Miki T; Takeuchi Y; Ebina Y; Yamada H; Sakuragi N; Yokoyama T; Nanmori T; Kitagawa H; Kant JA; Hoshi N
Congenit Anom (Kyoto); 2010 Jun; 50(2):85-94. PubMed ID: 20184645
[TBL] [Abstract][Full Text] [Related]
34. DNA binding activity studies and computational approach of mutant SRY in patients with 46, XY complete pure gonadal dysgenesis.
Sánchez-Moreno I; Canto P; Munguía P; de León MB; Cisneros B; Vilchis F; Reyes E; Méndez JP
Mol Cell Endocrinol; 2009 Feb; 299(2):212-8. PubMed ID: 19007850
[TBL] [Abstract][Full Text] [Related]
35. Defective importin beta recognition and nuclear import of the sex-determining factor SRY are associated with XY sex-reversing mutations.
Harley VR; Layfield S; Mitchell CL; Forwood JK; John AP; Briggs LJ; McDowall SG; Jans DA
Proc Natl Acad Sci U S A; 2003 Jun; 100(12):7045-50. PubMed ID: 12764225
[TBL] [Abstract][Full Text] [Related]
36. Novel pathogenic mutations in disorders of sex development associated genes cause 46,XY complete gonadal dysgenesis.
Xue M; Wang X; Li C; Zhao M; He F; Li X
Gene; 2019 Nov; 718():144072. PubMed ID: 31446095
[TBL] [Abstract][Full Text] [Related]
37. A novel frame shift mutation in the HMG box of the SRY gene in a patient with complete 46,XY pure gonadal dysgenesis.
Kellermayer R; Halvax L; Czakó M; Shahid M; Dhillon VS; Husain SA; Süle N; Gömöri E; Mammel M; Kosztolányi G
Diagn Mol Pathol; 2005 Sep; 14(3):159-63. PubMed ID: 16106197
[TBL] [Abstract][Full Text] [Related]
38. Detection of SRY in a 46,XY female (Swyer's syndrome).
Imai A; Horibe S; Fuseya T; Takagi H; Tamaya T
J Med; 1997; 28(1-2):49-54. PubMed ID: 9249610
[TBL] [Abstract][Full Text] [Related]
39. Complete gonadal dysgenesis in clinical practice: the 46,XY karyotype accounts for more than one third of cases.
Rocha VB; Guerra-Júnior G; Marques-de-Faria AP; de Mello MP; Maciel-Guerra AT
Fertil Steril; 2011 Dec; 96(6):1431-4. PubMed ID: 21982289
[TBL] [Abstract][Full Text] [Related]
40. The molecular action of testis-determining factors SRY and SOX9.
Harley VR
Novartis Found Symp; 2002; 244():57-66; discussion 66-7, 79-85, 253-7. PubMed ID: 11990798
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
