177 related articles for article (PubMed ID: 19531589)
21. 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]
22. A novel SRY mutation leads to asymmetric SOX9 activation and is responsible for mixed 46,XY gonadal dysgenesis.
Klee P; Béna F; Birraux J; Dahoun S; Dirlewanger M; Girardin C; Plotton I; Rougemont AL; Morel Y; Schwitzgebel VM
Horm Res Paediatr; 2012; 78(3):188-92. PubMed ID: 22441105
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. Genetic evidence equating SRY and the testis-determining factor.
Berta P; Hawkins JR; Sinclair AH; Taylor A; Griffiths BL; Goodfellow PN; Fellous M
Nature; 1990 Nov; 348(6300):448-50. PubMed ID: 2247149
[TBL] [Abstract][Full Text] [Related]
25. 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]
26. 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]
27. 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]
28. 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]
29. 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]
30. Candidate genes in complete and partial XY sex reversal: mutation analysis of SRY, SRY-related genes and FTZ-F1.
Lim HN; Freestone SH; Romero D; Kwok C; Hughes IA; Hawkins JR
Mol Cell Endocrinol; 1998 May; 140(1-2):51-8. PubMed ID: 9722168
[TBL] [Abstract][Full Text] [Related]
31. Paternal somatic and germ-line mosaicism for a sex-determining region on Y (SRY) missense mutation leading to recurrent 46,XY sex reversal.
Hines RS; Tho SP; Zhang YY; Plouffe L; Hansen KA; Khan I; McDonough PG
Fertil Steril; 1997 Apr; 67(4):675-9. PubMed ID: 9093193
[TBL] [Abstract][Full Text] [Related]
32. Mutational analysis of SRY in XY females.
Hawkins JR
Hum Mutat; 1993; 2(5):347-50. PubMed ID: 8257986
[TBL] [Abstract][Full Text] [Related]
33. 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]
34. Two novel SRY missense mutations reducing DNA binding identified in XY females and their mosaic fathers.
Schmitt-Ney M; Thiele H; Kaltwasser P; Bardoni B; Cisternino M; Scherer G
Am J Hum Genet; 1995 Apr; 56(4):862-9. PubMed ID: 7717397
[TBL] [Abstract][Full Text] [Related]
35. 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]
36. 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]
37. Genetic mutations and somatic anomalies in association with 46,XY gonadal dysgenesis.
Bastian C; Muller JB; Lortat-Jacob S; Nihoul-Fékété C; Bignon-Topalovic J; McElreavey K; Bashamboo A; Brauner R
Fertil Steril; 2015 May; 103(5):1297-304. PubMed ID: 25813279
[TBL] [Abstract][Full Text] [Related]
38. 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]
39. Abnormalities of gonadal differentiation.
Berkovitz GD; Seeherunvong T
Baillieres Clin Endocrinol Metab; 1998 Apr; 12(1):133-42. PubMed ID: 9890065
[TBL] [Abstract][Full Text] [Related]
40. Monozygotic twins of opposite sex.
Wachtel SS; Somkuti SG; Schinfeld JS
Cytogenet Cell Genet; 2000; 91(1-4):293-5. PubMed ID: 11173871
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
