BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

188 related articles for article (PubMed ID: 30204968)

  • 1. SUBMICROSCOPIC DUPLICATION OF 8q24.3 REGION IS A POTENTIAL CANDIDATE FOR DISORDERS OF SEX DEVELOPMENT.
    Dilek FN; Perçin EF; Kayserili H; Ergün MA; Saka N
    Genet Couns; 2016; 27(3):385-392. PubMed ID: 30204968
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Novel candidate genes for 46,XY gonadal dysgenesis identified by a customized 1 M array-CGH platform.
    Norling A; Lindén Hirschberg A; Iwarsson E; Persson B; Wedell A; Barbaro M
    Eur J Med Genet; 2013 Dec; 56(12):661-8. PubMed ID: 24055526
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Etiological diagnosis of undervirilized male/XY disorder of sex development.
    Atta I; Ibrahim M; Parkash A; Lone SW; Khan YN; Raza J
    J Coll Physicians Surg Pak; 2014 Oct; 24(10):714-8. PubMed ID: 25327912
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Expanding the spectrum of syndromic PPP2R3C-related XY gonadal dysgenesis to XX gonadal dysgenesis.
    Altunoglu U; Börklü E; Shukla A; Escande-Beillard N; Ledig S; Azaklı H; Nayak SS; Eraslan S; Girisha KM; Kennerknecht I; Kayserili H
    Clin Genet; 2022 Feb; 101(2):221-232. PubMed ID: 34750818
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis.
    White S; Ohnesorg T; Notini A; Roeszler K; Hewitt J; Daggag H; Smith C; Turbitt E; Gustin S; van den Bergen J; Miles D; Western P; Arboleda V; Schumacher V; Gordon L; Bell K; Bengtsson H; Speed T; Hutson J; Warne G; Harley V; Koopman P; Vilain E; Sinclair A
    PLoS One; 2011 Mar; 6(3):e17793. PubMed ID: 21408189
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development.
    Benko S; Gordon CT; Mallet D; Sreenivasan R; Thauvin-Robinet C; Brendehaug A; Thomas S; Bruland O; David M; Nicolino M; Labalme A; Sanlaville D; Callier P; Malan V; Huet F; Molven A; Dijoud F; Munnich A; Faivre L; Amiel J; Harley V; Houge G; Morel Y; Lyonnet S
    J Med Genet; 2011 Dec; 48(12):825-30. PubMed ID: 22051515
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Anomalies in Human Sex Determination: Usefulness of a Combined Cytogenetic Approach to Characterize an Additional Case with Xp Functional Disomy Associated with 46,XY Gonadal Dysgenesis.
    Rjiba K; Slimani W; Gaddas M; Hassine IH; Jelloul A; Khelifa HB; El Amri F; Zaouali M; Mcelreavey K; Saad A; Mougou-Zerelli S
    J Clin Res Pediatr Endocrinol; 2023 Feb; 15(1):25-34. PubMed ID: 35984215
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. The Evaluation of Cases with Y-Chromosome Gonadal Dysgenesis: Clinical Experience over 18 Years.
    Berberoğlu M; Şıklar Z;
    J Clin Res Pediatr Endocrinol; 2018 Mar; 10(1):30-37. PubMed ID: 28825592
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Deletion of 9p associated with gonadal dysfunction in 46,XY but not in 46,XX human fetuses.
    Vialard F; Ottolenghi C; Gonzales M; Choiset A; Girard S; Siffroi JP; McElreavey K; Vibert-Guigue C; Sebaoun M; Joyé N; Portnoï MF; Jaubert F; Fellous M
    J Med Genet; 2002 Jul; 39(7):514-8. PubMed ID: 12114486
    [No Abstract]   [Full Text] [Related]  

  • 11. 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]  

  • 12. Description of diagnosis of 45,X/46,XY ovotesticular DSD.
    Ren Š; Harmaš V; Stará M; Laštůvkováj ; Čejnová V
    Ceska Gynekol; 2020; 85(4):259-262. PubMed ID: 33562981
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Investigation of the ZFY gene in XX true hermaphroditism and Swyer syndrome.
    Damiani D; Billerbeck AE; Goldberg AC; Setian N; Fellous M; Kalil J
    Hum Genet; 1990 Jun; 85(1):85-8. PubMed ID: 2358305
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. SRY protein is expressed in ovotestis and streak gonads from human sex-reversal.
    Salas-Cortés L; Jaubert F; Nihoul-Feketé C; Brauner R; Rosemblatt M; Fellous M
    Cytogenet Cell Genet; 2000; 91(1-4):212-6. PubMed ID: 11173859
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Gonadal tumour risk in 292 phenotypic female patients with disorders of sex development containing Y chromosome or Y-derived sequence.
    Huang H; Wang C; Tian Q
    Clin Endocrinol (Oxf); 2017 Apr; 86(4):621-627. PubMed ID: 27862157
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Partial deletion of DMRT1 causes 46,XY ovotesticular disorder of sexual development.
    Ledig S; Hiort O; Wünsch L; Wieacker P
    Eur J Endocrinol; 2012 Jul; 167(1):119-24. PubMed ID: 22573722
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 46,XY disorders of sex development (DSD).
    Mendonca BB; Domenice S; Arnhold IJ; Costa EM
    Clin Endocrinol (Oxf); 2009 Feb; 70(2):173-87. PubMed ID: 18811725
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Sexual quality of life of individuals with disorders of sex development and a 46,XY karyotype: a review of international research.
    Schonbucher V; Schweizer K; Richter-Appelt H
    J Sex Marital Ther; 2010; 36(3):193-215. PubMed ID: 20432122
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.