391 related articles for article (PubMed ID: 15665984)
1. 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]
2. 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]
3. Absence of mutations in the WT1 gene in patients with XY gonadal dysgenesis.
Nordenskjöld A; Fricke G; Anvret M
Hum Genet; 1995 Jul; 96(1):102-4. PubMed ID: 7607640
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. A novel mutation (c. 341A>G) in the SRY gene in a 46,XY female patient with gonadal dysgenesis.
Helszer Z; Dmochowska A; Szemraj J; Słowikowska-Hilczer J; Wieczorek M; Jędrzejczyk S; Kałużewski B
Gene; 2013 Sep; 526(2):467-70. PubMed ID: 23624391
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Mutations and sequence variants in the testis-determining region of the Y chromosome in individuals with a 46,XY female phenotype.
Veitia R; Ion A; Barbaux S; Jobling MA; Souleyreau N; Ennis K; Ostrer H; Tosi M; Meo T; Chibani J; Fellous M; McElreavey K
Hum Genet; 1997 May; 99(5):648-52. PubMed ID: 9150734
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. Familial mutation in the testis-determining gene SRY shared by an XY female and her normal father.
Jordan BK; Jain M; Natarajan S; Frasier SD; Vilain E
J Clin Endocrinol Metab; 2002 Jul; 87(7):3428-32. PubMed ID: 12107262
[TBL] [Abstract][Full Text] [Related]
11. A 46,XY female DSD patient with bilateral gonadoblastoma, a novel SRY missense mutation combined with a WT1 KTS splice-site mutation.
Hersmus R; van der Zwan YG; Stoop H; Bernard P; Sreenivasan R; Oosterhuis JW; Brüggenwirth HT; de Boer S; White S; Wolffenbuttel KP; Alders M; McElreavy K; Drop SL; Harley VR; Looijenga LH
PLoS One; 2012; 7(7):e40858. PubMed ID: 22815844
[TBL] [Abstract][Full Text] [Related]
12. Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis.
Hawkins JR; Taylor A; Goodfellow PN; Migeon CJ; Smith KD; Berkovitz GD
Am J Hum Genet; 1992 Nov; 51(5):979-84. PubMed ID: 1415266
[TBL] [Abstract][Full Text] [Related]
13. Mutations in the conserved domain of SRY are uncommon in XY gonadal dysgenesis.
Pivnick EK; Wachtel S; Woods D; Simpson JL; Bishop CE
Hum Genet; 1992 Nov; 90(3):308-10. PubMed ID: 1487248
[TBL] [Abstract][Full Text] [Related]
14. Two new novel point mutations localized upstream and downstream of the HMG box region of the SRY gene in three Indian 46,XY females with sex reversal and gonadal tumour formation.
Shahid M; Dhillion VS; Jain N; Hedau S; Diwakar S; Sachdeva P; Batra S; Das BC; Husain SA
Mol Hum Reprod; 2004 Jul; 10(7):521-6. PubMed ID: 15155818
[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. Pathology of 46,XY pure gonadal dysgenesis: absence of testis differentiation associated with mutations in the testis-determining factor.
Vilain E; Jaubert F; Fellous M; McElreavey K
Differentiation; 1993 Jan; 52(2):151-9. PubMed ID: 8472885
[TBL] [Abstract][Full Text] [Related]
17. Mutational analysis of SRY in XY females.
Hawkins JR
Hum Mutat; 1993; 2(5):347-50. PubMed ID: 8257986
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. A missense mutation (c.226C>A) in HMG box SRY gene affects nNLS function in 46,XY sex reversal female.
Ambulkar PS; Waghmare JE; Verma Shivkumar P; Narang P; Pal AK
Andrologia; 2021 Jun; 53(5):e14011. PubMed ID: 33570214
[TBL] [Abstract][Full Text] [Related]
20. Novel mutations affecting SRY DNA-binding activity: the HMG box N65H associated with 46,XY pure gonadal dysgenesis and the familial non-HMG box R30I associated with variable phenotypes.
Assumpção JG; Benedetti CE; Maciel-Guerra AT; Guerra G; Baptista MT; Scolfaro MR; de Mello MP
J Mol Med (Berl); 2002 Dec; 80(12):782-90. PubMed ID: 12483463
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
