490 related articles for article (PubMed ID: 25813279)
1. 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]
2. 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]
3. 46,XY Gonadal Dysgenesis due to a Homozygous Mutation in Desert Hedgehog (DHH) Identified by Exome Sequencing.
Werner R; Merz H; Birnbaum W; Marshall L; Schröder T; Reiz B; Kavran JM; Bäumer T; Capetian P; Hiort O
J Clin Endocrinol Metab; 2015 Jul; 100(7):E1022-9. PubMed ID: 25927242
[TBL] [Abstract][Full Text] [Related]
4. WT1 deletion leading to severe 46,XY gonadal dysgenesis, Wilms tumor and gonadoblastoma: case report.
Finken MJ; Hendriks YM; van der Voorn JP; Veening MA; Lombardi MP; Rotteveel J
Horm Res Paediatr; 2015; 83(3):211-6. PubMed ID: 25613702
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Gonadoblastoma Y locus genes expressed in germ cells of individuals with dysgenetic gonads and a Y chromosome in their karyotypes include DDX3Y and TSPY.
Vogt PH; Besikoglu B; Bettendorf M; Frank-Herrmann P; Zimmer J; Bender U; Knauer-Fischer S; Choukair D; Sinn P; Lau YC; Heidemann PH; Strowitzki T
Hum Reprod; 2019 Apr; 34(4):770-779. PubMed ID: 30753444
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Occurrence of Gonadoblastoma in Patients with 45,X/46,XY Mosaicism.
Dendrinos ML; Smorgick N; Marsh CA; Smith YR; Quint EH
J Pediatr Adolesc Gynecol; 2015 Jun; 28(3):192-5. PubMed ID: 26046609
[TBL] [Abstract][Full Text] [Related]
9. Undifferentiated gonadal tissue, Y chromosome instability, and tumors in XY gonadal dysgenesis.
Beaulieu Bergeron M; Lemieux N; Brochu P
Pediatr Dev Pathol; 2011; 14(6):445-59. PubMed ID: 21692598
[TBL] [Abstract][Full Text] [Related]
10. XY gonadal dysgenesis and gonadoblastoma: a study in two sisters with a cryptic deletion of the Y chromosome involving the SRY gene.
Barbosa AS; Ferraz-Costa TE; Semer M; Liberman B; Moreira-Filho CA
Hum Genet; 1995 Jan; 95(1):63-6. PubMed ID: 7814028
[TBL] [Abstract][Full Text] [Related]
11. [Pure 46,XY gonadal dysgenesis].
Ságodi L; Ladányi E; Kiss Á; Tar A; Lukács V; Minik K; Vámosi I
Orv Hetil; 2010 Nov; 151(48):1991-5. PubMed ID: 21084251
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 9p partial monosomy and disorders of sex development: review and postulation of a pathogenetic mechanism.
Quinonez SC; Park JM; Rabah R; Owens KM; Yashar BM; Glover TW; Keegan CE
Am J Med Genet A; 2013 Aug; 161A(8):1882-96. PubMed ID: 23824832
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Clinical heterogeneity in children with gonadal dysgenesis associated with non-mosaic 46,XY karyotype.
Wong YS; Tam YH; Pang KKY; To KF; Chan SSC; Chan KW; Lee KH
J Pediatr Urol; 2017 Oct; 13(5):508.e1-508.e6. PubMed ID: 28434637
[TBL] [Abstract][Full Text] [Related]
16. Analysis of the Wilms' tumor suppressor gene (WT1) in patients 46,XY disorders of sex development.
Köhler B; Biebermann H; Friedsam V; Gellermann J; Maier RF; Pohl M; Wieacker P; Hiort O; Grüters A; Krude H
J Clin Endocrinol Metab; 2011 Jul; 96(7):E1131-6. PubMed ID: 21508141
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Sex-reversed phenotype in association with two novel mutations c.2494delA and c.T3004C in the ligand-binding domain of the androgen receptor gene.
Galani A; Sofocleous C; Karahaliou F; Papathanasiou A; Kitsiou-Tzeli S; Kalpini-Mavrou A
Fertil Steril; 2008 Nov; 90(5):2008.e1-4. PubMed ID: 18342859
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Association of deletion 9p, 46,XY gonadal dysgenesis and autistic spectrum disorder.
Vinci G; Chantot-Bastaraud S; El Houate B; Lortat-Jacob S; Brauner R; McElreavey K
Mol Hum Reprod; 2007 Sep; 13(9):685-9. PubMed ID: 17644778
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]