141 related articles for article (PubMed ID: 17438599)
1. Gene symbol: SRY.
Heine-Suñer D; Torres-Juan L; Gómez C; Pérez-Granero A; Bernues M; Govea N; Roseli J
Hum Genet; 2007 Feb; 120(6):909. PubMed ID: 17438599
[No Abstract] [Full Text] [Related]
2. A Novel SRY Gene Mutation p.F109L in a 46,XY Female with Complete Gonadal Dysgenesis.
Andonova S; Robeva R; Sirakov M; Mainhard K; Tomova A; Ledig S; Kumanov P; Savov A
Sex Dev; 2015; 9(6):333-7. PubMed ID: 26871559
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. 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]
6. 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]
7. SRY mutation and tumor formation on the gonads of XP pure gonadal dysgenesis patients.
Uehara S; Funato T; Yaegashi N; Suziki H; Sato J; Sasaki T; Yajima A
Cancer Genet Cytogenet; 1999 Aug; 113(1):78-84. PubMed ID: 10459352
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. Novel mutation of the sex-determining region on the Y chromosome in a 46,XY female patient with monolateral dysgerminoma: a case report.
Battaglia F; Plotti F; Angelucci M; Aloisi A; Angioli R
J Obstet Gynaecol Res; 2013 Jan; 39(1):442-5. PubMed ID: 22889418
[TBL] [Abstract][Full Text] [Related]
11. Primary amenorrhea in a 46,XY adolescent girl with partial gonadal dysgenesis: identification of a new SRY gene mutation.
Paris F; Philibert P; Lumbroso S; Baldet P; Charvet JP; Galifer RB; Sultan C
Fertil Steril; 2007 Nov; 88(5):1437.e21-5. PubMed ID: 17493621
[TBL] [Abstract][Full Text] [Related]
12. [XY gonadal dysgenesis (Swyer syndrome) with gonadoblastoma].
Lange A; Wieacker P; Schnabel R; Schweikert HU; Schumann K
Zentralbl Gynakol; 1998; 120(11):555-8. PubMed ID: 9880895
[TBL] [Abstract][Full Text] [Related]
13. Novel human pathological mutations. Gene symbol: SRY. Disease: XY sex reversal.
Ravel C; Lakhal B; Elghezal H; Braham R; Saad A; Bashamboo A; Siffroi JP; McElreavey K; Christin-Maitre S
Hum Genet; 2009 Aug; 126(2):333. PubMed ID: 19694000
[No Abstract] [Full Text] [Related]
14. 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]
15. A 46 XY phenotypic female adolescent with bilateral gonadal tumors consisting of five different components.
Simon RA; Laughlin TS; Nuccie B; Wang N; Rothberg PG; Wang X
Int J Gynecol Pathol; 2008 Jul; 27(3):407-11. PubMed ID: 18580319
[TBL] [Abstract][Full Text] [Related]
16. Coexistence of a choriocarcinoma and a gonadoblastoma in the gonad of a 46,XY female: a single nucleotide polymorphism array analysis.
Beaulieu Bergeron M; Soglio DB; Maietta A; Fournet JC; Blumenkrantz M; Brochu P; Lemieux N
Pediatr Dev Pathol; 2010; 13(1):66-71. PubMed ID: 19425818
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. 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]
20. Bilateral gonadoblastoma with dysgerminoma and pilocytic astrocytoma with WT1 GT-IVS9 mutation: A 46 XY phenotypic female with Frasier syndrome.
Subbiah V; Huff V; Wolff JE; Ketonen L; Lang FF; Stewart J; Langford L; Herzog CE
Pediatr Blood Cancer; 2009 Dec; 53(7):1349-51. PubMed ID: 19653292
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]