BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

321 related articles for article (PubMed ID: 21982289)

  • 1. Complete gonadal dysgenesis in clinical practice: the 46,XY karyotype accounts for more than one third of cases.
    Rocha VB; Guerra-Júnior G; Marques-de-Faria AP; de Mello MP; Maciel-Guerra AT
    Fertil Steril; 2011 Dec; 96(6):1431-4. PubMed ID: 21982289
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Management of phenotypic female patients with an XY karyotype.
    Portuondo JA; Neyro JL; Barral A; Gonzalez-Gorospe F; Benito JA
    J Reprod Med; 1986 Jul; 31(7):611-5. PubMed ID: 3091820
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. [Diagnostic principles of gonadal dysgenesis in adolescents].
    Chipashvili MK; Kristesashvili DI; Chopikashvili NA; Kopaliani NSh
    Georgian Med News; 2005 Nov; (128):24-8. PubMed ID: 16369057
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. Abnormal streak gonads in 46,XY complete gonadal dysgenesis.
    Doherty LF; Rackow BW
    Fertil Steril; 2011 Dec; 96(6):1415-6. PubMed ID: 22032815
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [Complete gonadal dysgenesis 46, XY in a 16-year-old girl with a female phenotype--case report].
    Starzyk J; Górska A; Januś D
    Endokrynol Diabetol Chor Przemiany Materii Wieku Rozw; 2005; 11(2):115-7. PubMed ID: 15996342
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [XY type gonadal dysgenesis, trisomy X and variants].
    Kikuchi I; Takeuchi H; Kinoshita K
    Nihon Rinsho; 2004 Feb; 62(2):309-12. PubMed ID: 14968537
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Gonadal agenesis in XX and XY sisters: evidence for the involvement of an autosomal gene.
    Mendonça BB; Barbosa AS; Arnhold IJ; McElreavey K; Fellous M; Moreira-Filho CA
    Am J Med Genet; 1994 Aug; 52(1):39-43. PubMed ID: 7977459
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Care of women with XY karyotype: a clinical practice guideline.
    Jorgensen PB; Kjartansdóttir KR; Fedder J
    Fertil Steril; 2010 Jun; 94(1):105-13. PubMed ID: 19361791
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. [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]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. [Causes of ambiguous external genitalia in neonates].
    Zdravković D; Milenković T; Sedlecki K; Guć-Sćekić M; Rajić V; Banićević M
    Srp Arh Celok Lek; 2001; 129(3-4):57-60. PubMed ID: 11534268
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Description and molecular analysis of SRY and AR genes in a patient with 46,XY pure gonadal dysgenesis (Swyer syndrome).
    Iliopoulos D; Volakakis N; Tsiga A; Rousso I; Voyiatzis N
    Ann Genet; 2004; 47(2):185-90. PubMed ID: 15183752
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 17.