136 related articles for article (PubMed ID: 9452057)
1. Novel mutation in the SRY gene results in 46,XY gonadal dysgenesis.
Cameron FJ; Smith MJ; Warne GL; Sinclair AH
Hum Mutat; 1998; Suppl 1():S110-1. PubMed ID: 9452057
[No Abstract] [Full Text] [Related]
2. Mutation in the 5' noncoding region of the SRY gene in an XY sex-reversed patient.
Poulat F; Desclozeaux M; Tuffery S; Jay P; Boizet B; Berta P
Hum Mutat; 1998; Suppl 1():S192-4. PubMed ID: 9452083
[No Abstract] [Full Text] [Related]
3. 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]
4. 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]
5. Analysis of the SRY gene in gonadal tissue of subjects with 46,XY gonadal dysgenesis.
Fuqua JS; McLaughlin J; Perlman EJ; Berkovitz GD
J Clin Endocrinol Metab; 1997 Feb; 82(2):701-2. PubMed ID: 9024280
[No Abstract] [Full Text] [Related]
6. Analysis of the SRY gene in 22 sex-reversed XY females identifies four new point mutations in the conserved DNA binding domain.
Affara NA; Chalmers IJ; Ferguson-Smith MA
Hum Mol Genet; 1993 Jun; 2(6):785-9. PubMed ID: 8353496
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Independent observation of SRY mutation I90M in a patient with complete gonadal dysgenesis.
Dörk T; Stuhrmann M; Miller K; Schmidtke J
Hum Mutat; 1998; 11(1):90-1. PubMed ID: 9450909
[No Abstract] [Full Text] [Related]
9. Mutation analysis of the 2 kb 5' to SRY in XY females and XY intersex subjects.
Kwok C; Tyler-Smith C; Mendonca BB; Hughes I; Berkovitz GD; Goodfellow PN; Hawkins JR
J Med Genet; 1996 Jun; 33(6):465-8. PubMed ID: 8782045
[TBL] [Abstract][Full Text] [Related]
10. A novel mutation localized in the 3' non-HMG box region of the SRY gene in 46,XY gonadal dysgenesis.
Tajima T; Nakae J; Shinohara N; Fujieda K
Hum Mol Genet; 1994 Jul; 3(7):1187-9. PubMed ID: 7981695
[No Abstract] [Full Text] [Related]
11. A novel missense mutation (S18N) in the 5' non-HMG box region of the SRY gene in a patient with partial gonadal dysgenesis and his normal male relatives.
Domenice S; Yumie Nishi M; Correia Billerbeck AE; Latronico AC; Aparecida Medeiros M; Russell AJ; Vass K; Marino Carvalho F; Costa Frade EM; Prado Arnhold IJ; Bilharinho Mendonca B
Hum Genet; 1998 Feb; 102(2):213-5. PubMed ID: 9521592
[TBL] [Abstract][Full Text] [Related]
12. Mutational analysis of SRY in XY females.
Hawkins JR
Hum Mutat; 1993; 2(5):347-50. PubMed ID: 8257986
[TBL] [Abstract][Full Text] [Related]
13. Structural basis for SRY-dependent 46-X,Y sex reversal: modulation of DNA bending by a naturally occurring point mutation.
Murphy EC; Zhurkin VB; Louis JM; Cornilescu G; Clore GM
J Mol Biol; 2001 Sep; 312(3):481-99. PubMed ID: 11563911
[TBL] [Abstract][Full Text] [Related]
14. Functional Analysis of Mutations at Codon 127 of the SRY Gene Associated with 46,XY Complete Gonadal Dysgenesis.
Tajouri A; Ben Gaied D; Hizem S; Boujelben S; Maazoul F; M'rad R; Poulat F; Kharrat M
Sex Dev; 2017; 11(4):203-209. PubMed ID: 28787711
[TBL] [Abstract][Full Text] [Related]
15. Complete XY gonadal dysgenesis and aspects of the SRYgenotype and gonadal tumor formation.
Uehara S; Hashiyada M; Sato K; Nata M; Funato T; Okamura K
J Hum Genet; 2002; 47(6):279-84. PubMed ID: 12111377
[TBL] [Abstract][Full Text] [Related]
16. Ascertainment and mutational studies of SRY in nine XY females.
Graves PE; Davis D; Erickson RP; Lopez M; Kofman-Alfaro S; Mendez JP; Speer IE
Am J Med Genet; 1999 Mar; 83(2):138-9. PubMed ID: 10190485
[No Abstract] [Full Text] [Related]
17. A novel double nucleotide substitution in the HMG box of the SRY gene associated with Swyer syndrome.
Battiloro E; Angeletti B; Tozzi MC; Bruni L; Tondini S; Vignetti P; Verna R; D'Ambrosio E
Hum Genet; 1997 Oct; 100(5-6):585-7. PubMed ID: 9341876
[TBL] [Abstract][Full Text] [Related]
18. Mutations in SRY and WT1 genes required for gonadal development are not responsible for XY partial gonadal dysgenesis.
Tagliarini EB; Assumpção JG; Scolfaro MR; Mello MP; Maciel-Guerra AT; Guerra Júnior G; Hackel C
Braz J Med Biol Res; 2005 Jan; 38(1):17-25. PubMed ID: 15665984
[TBL] [Abstract][Full Text] [Related]
19. Identification of a new missense mutation (Gly95Glu) in a highly conserved codon within the high-mobility group box of the sex-determining region Y gene: report on a 46,XY female with gonadal dysgenesis and yolk-sac tumor.
Schäffler A; Barth N; Winkler K; Zietz B; Rümmele P; Knüchel R; Schölmerich J; Palitzsch KD
J Clin Endocrinol Metab; 2000 Jun; 85(6):2287-92. PubMed ID: 10852465
[TBL] [Abstract][Full Text] [Related]
20. Mutation analysis of subjects with 46, XX sex reversal and 46, XY gonadal dysgenesis does not support the involvement of SOX3 in testis determination.
Lim HN; Berkovitz GD; Hughes IA; Hawkins JR
Hum Genet; 2000 Dec; 107(6):650-2. PubMed ID: 11153920
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
