BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

228 related articles for article (PubMed ID: 12012620)

  • 1. Familial ovarian dysgerminomas (Swyer syndrome) in females associated with 46 XY-karyotype.
    Kempe A; Engels H; Schubert R; Meindl A; van der Ven K; Plath H; Rhiem K; Schwanitz G; Schmutzler RK
    Gynecol Endocrinol; 2002 Apr; 16(2):107-11. PubMed ID: 12012620
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Hormonal evaluation in relation to phenotype and genotype in 286 patients with a disorder of sex development from Indonesia.
    Juniarto AZ; van der Zwan YG; Santosa A; Ariani MD; Eggers S; Hersmus R; Themmen AP; Bruggenwirth HT; Wolffenbuttel KP; Sinclair A; White SJ; Looijenga LH; de Jong FH; Faradz SM; Drop SL
    Clin Endocrinol (Oxf); 2016 Aug; 85(2):247-57. PubMed ID: 26935236
    [TBL] [Abstract][Full Text] [Related]  

  • 3. [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]  

  • 4. Swyer syndrome with SRY + Y chromosome and rudimentary internal genitalia demonstrating temporary action of antimüllerian hormone in utero: a case report.
    Kahyaoglu S; Turgay I; Ertas E; Batioglu S
    J Reprod Med; 2006 Jun; 51(6):510-2. PubMed ID: 16846094
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Isolated 46,XY gonadal dysgenesis in two sisters caused by a Xp21.2 interstitial duplication containing the DAX1 gene.
    Barbaro M; Oscarson M; Schoumans J; Staaf J; Ivarsson SA; Wedell A
    J Clin Endocrinol Metab; 2007 Aug; 92(8):3305-13. PubMed ID: 17504899
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Dysgenetic male pseudohermaphroditism].
    Ságodi L; Jakab J; Kiss A; Ladányi E; Balogh E; Ujfalusi A; Papp J; Megyeri T; Kovács J
    Orv Hetil; 2012 Feb; 153(8):303-7. PubMed ID: 22330842
    [TBL] [Abstract][Full Text] [Related]  

  • 8. An Unusual Presentation of 46,XY Pure Gonadal Dysgenesis: Spontaneous Breast Development and Menstruation.
    Çatlı G; Alparslan C; Can PŞ; Akbay S; Kelekçi S; Atik T; Özyılmaz B; Dündar BN
    J Clin Res Pediatr Endocrinol; 2015 Jun; 7(2):159-62. PubMed ID: 26316442
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Tumors of dysgenetic gonads in Swyer syndrome.
    Zieliñska D; Zajaczek S; Rzepka-Górska I
    J Pediatr Surg; 2007 Oct; 42(10):1721-4. PubMed ID: 17923202
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Molecular analysis of the AR and SRD5A2 genes in patients with 46,XY disorders of sex development.
    Choi JH; Kim GH; Seo EJ; Kim KS; Kim SH; Yoo HW
    J Pediatr Endocrinol Metab; 2008 Jun; 21(6):545-53. PubMed ID: 18717241
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Identification of a new mutation in the SRY gene in a 46,XY woman with Swyer syndrome.
    Marchina E; Gambera A; Spinelli E; Clerici P; Scagliola P; Sartori E; Barlati S
    Fertil Steril; 2009 Mar; 91(3):932.e7-932.e11. PubMed ID: 18990383
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Steroidogenic factor-1 (SF-1) gene mutation as a frequent cause of primary amenorrhea in 46,XY female adolescents with low testosterone concentration.
    Philibert P; Leprieur E; Zenaty D; Thibaud E; Polak M; Frances AM; Lespinasse J; Raingeard I; Servant N; Audran F; Paris F; Sultan C
    Reprod Biol Endocrinol; 2010 Mar; 8():28. PubMed ID: 20302644
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [A Case of 46,XY pure gonadal dysgenesis with loss of the sex-determining region of Y chromosome].
    Yoon KH; Lee YJ
    Korean J Lab Med; 2008 Apr; 28(2):151-4. PubMed ID: 18458512
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Pure gonadal dysgenesis (Swyer syndrome) due to microdeletion in the SRY gene: a case report.
    Mutlu GY; Kırmızıbekmez H; Aydın H; Çetiner H; Moralıoğlu S; Celayir AC
    J Pediatr Endocrinol Metab; 2015 Jan; 28(1-2):207-10. PubMed ID: 25153220
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Identification of novel SRY mutations and SF1 (NR5A1) changes in patients with pure gonadal dysgenesis and 46,XY karyotype.
    Paliwal P; Sharma A; Birla S; Kriplani A; Khadgawat R; Sharma A
    Mol Hum Reprod; 2011 Jun; 17(6):372-8. PubMed ID: 21242195
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Intact sex determining region Y (SRY) in a patient with XY pure gonadal dysgenesis and a twin brother.
    Tsutsumi O; Iida T; Taketani Y; Sugase M; Nakahori Y; Nakagome Y
    Endocr J; 1994 Jun; 41(3):281-5. PubMed ID: 7951580
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Inherited impairment of nuclear androgen uptake as a cause of familial androgen insensitivity.
    Ulloa-Aguirre A; Chavez B; Mendez JP; Saavedra D; Perez-Palacios G
    Eur J Obstet Gynecol Reprod Biol; 1988 Aug; 28(4):317-29. PubMed ID: 3139477
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Report of a kindred with X-linked (or autosomal dominant sex-limited) 46,XY partial gonadal dysgenesis.
    Fechner PY; Marcantonio SM; Ogata T; Rosales TO; Smith KD; Goodfellow PN; Migeon CJ; Berkovitz GD
    J Clin Endocrinol Metab; 1993 May; 76(5):1248-53. PubMed ID: 8496317
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Clinical and genetic analysis of an infant with isolated 17, 20-lyase deficiency].
    Zhou DY; Qiu WJ; Xu MS; Luo JH; Ye J; Han LS; Zhang HW; Yu YG; Liang LL; Gu XF
    Zhonghua Er Ke Za Zhi; 2016 Aug; 54(8):619-22. PubMed ID: 27510877
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.