193 related articles for article (PubMed ID: 19007850)
1. 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]
2. Mutational analysis of SRY in XY females.
Hawkins JR
Hum Mutat; 1993; 2(5):347-50. PubMed ID: 8257986
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Identification of a novel mutation in the SRY gene in a 46, XY female patient.
Salehi LB; Scarciolla O; Vanni GF; Nardone AM; Frajese G; Novelli G; Stuppia L
Eur J Med Genet; 2006; 49(6):494-8. PubMed ID: 16675314
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis.
Gimelli G; Gimelli S; Dimasi N; Bocciardi R; Di Battista E; Pramparo T; Zuffardi O
Eur J Hum Genet; 2007 Jan; 15(1):76-80. PubMed ID: 17063144
[TBL] [Abstract][Full Text] [Related]
8. Analysis of the SRY gene in two sex-reversed XY sisters identifies two new novel point mutations in the high mobility group box domain.
Shahid M; Dhillon VS; Hussain Z; Masa JF; Aslam M; Raish M; Ahmad A; Khan NJ; Prasad S; Batra S; Pasha ST; Husain SA
Fertil Steril; 2008 Oct; 90(4):1199.e1-8. PubMed ID: 18304538
[TBL] [Abstract][Full Text] [Related]
9. A novel missense mutation in the high mobility group domain of SRY drastically reduces its DNA-binding capacity and causes paternally transmitted 46,XY complete gonadal dysgenesis.
Filges I; Kunz C; Miny P; Boesch N; Szinnai G; Wenzel F; Tschudin S; Zumsteg U; Heinimann K
Fertil Steril; 2011 Oct; 96(4):851-5. PubMed ID: 21868002
[TBL] [Abstract][Full Text] [Related]
10. Full-length SRY protein is essential for DNA binding.
Sánchez-Moreno I; Coral-Vázquez R; Méndez JP; Canto P
Mol Hum Reprod; 2008 Jun; 14(6):325-30. PubMed ID: 18453550
[TBL] [Abstract][Full Text] [Related]
11. Identification of a novel mutation (Ala66Thr) of SRY gene causes XY pure gonadal dysgenesis by affecting DNA binding activity and nuclear import.
Wang X; Xue M; Zhao M; He F; Li C; Li X
Gene; 2018 Apr; 651():143-151. PubMed ID: 29378242
[TBL] [Abstract][Full Text] [Related]
12. Novel homozygous mutations in Desert hedgehog gene in patients with 46,XY complete gonadal dysgenesis and prediction of its structural and functional implications by computational methods.
Das DK; Sanghavi D; Gawde H; Idicula-Thomas S; Vasudevan L
Eur J Med Genet; 2011; 54(6):e529-34. PubMed ID: 21816240
[TBL] [Abstract][Full Text] [Related]
13. Mutations of the SRY-responsive enhancer of SOX9 are uncommon in XY gonadal dysgenesis.
Georg I; Bagheri-Fam S; Knower KC; Wieacker P; Scherer G; Harley VR
Sex Dev; 2010; 4(6):321-5. PubMed ID: 20838034
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. 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]
17. The role of sexual related Y gene detection in the diagnosis of patients with gonadal dysgenesis.
Yu Q; Huang S; Ye L; Feng L; He F; Ye J; Gu C; Ge Q
Chin Med J (Engl); 2001 Feb; 114(2):128-31. PubMed ID: 11780190
[TBL] [Abstract][Full Text] [Related]
18. Molecular evaluation of the SRY gene for gonads of patients with mixed gonadal dysgenesis.
Mizuno K; Kojima Y; Tozawa K; Sasaki S; Hayashi Y; Kohri K
Int J Urol; 2005 Jul; 12(7):673-6. PubMed ID: 16045561
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. [46,XY female sex reversal patient with a novel point mutation in the coding sequence of the SRY gene].
Zhou C; Li LY; Fu JJ; Mo YQ; Zhong CG; Lu GX
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2003 Oct; 20(5):369-72. PubMed ID: 14556185
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
