These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

201 related articles for article (PubMed ID: 23529942)

  • 1. Understanding the genetic aetiology in patients with XY DSD.
    Ahmed SF; Bashamboo A; Lucas-Herald A; McElreavey K
    Br Med Bull; 2013; 106():67-89. PubMed ID: 23529942
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The importance of the multiplex ligation-dependent probe amplification in the identification of a novel two-exon deletion of the NR5A1 gene in a patient with 46,XY differences of sex development.
    Nagy O; Kárteszi J; Hartwig M; Bertalan R; Jávorszky E; Erhardt É; Patócs A; Tornóczky T; Balogh I; Ujfalusi A
    Mol Biol Rep; 2019 Oct; 46(5):5595-5601. PubMed ID: 31338750
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Longitudinal hormonal evaluation in a patient with disorder of sexual development, 46,XY karyotype and one NR5A1 mutation.
    Pedace L; Laino L; Preziosi N; Valentini MS; Scommegna S; Rapone AM; Guarino N; Boscherini B; De Bernardo C; Marrocco G; Majore S; Grammatico P
    Am J Med Genet A; 2014 Nov; 164A(11):2938-46. PubMed ID: 25160005
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Prevalence of endocrine and genetic abnormalities in boys evaluated systematically for a disorder of sex development.
    Nixon R; Cerqueira V; Kyriakou A; Lucas-Herald A; McNeilly J; McMillan M; Purvis AI; Tobias ES; McGowan R; Ahmed SF
    Hum Reprod; 2017 Oct; 32(10):2130-2137. PubMed ID: 28938747
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Contribution of Clinical and Genetic Approaches for Diagnosing 209 Index Cases With 46,XY Differences of Sex Development.
    Gomes NL; Batista RL; Nishi MY; Lerário AM; Silva TE; de Moraes Narcizo A; Benedetti AFF; de Assis Funari MF; Faria Junior JA; Moraes DR; Quintão LML; Montenegro LR; Ferrari MTM; Jorge AA; Arnhold IJP; Costa EMF; Domenice S; Mendonca BB
    J Clin Endocrinol Metab; 2022 Apr; 107(5):e1797-e1806. PubMed ID: 35134971
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Detection of 46, XY Disorder of Sex Development (DSD) Based on Plasma Cell-Free DNA and Targeted Next-Generation Sequencing.
    De Falco L; Piscopo C; D'Angelo R; Evangelista E; Suero T; Sirica R; Ruggiero R; Savarese G; Di Carlo A; Furino G; Scarpato C; Fico A
    Genes (Basel); 2021 Nov; 12(12):. PubMed ID: 34946839
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Functional analysis of novel desert hedgehog gene variants improves the clinical interpretation of genomic data and provides a more accurate diagnosis for patients with 46,XY differences of sex development.
    Ayers K; van den Bergen J; Robevska G; Listyasari N; Raza J; Atta I; Riedl S; Rothacker K; Choong C; Faradz SMH; Sinclair A
    J Med Genet; 2019 Jul; 56(7):434-443. PubMed ID: 31018998
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Comprehensive molecular analysis identifies eight novel variants in XY females with disorders of sex development.
    Kulkarni V; Chellasamy SK; Dhangar S; Ghatanatti J; Vundinti BR
    Mol Hum Reprod; 2023 Jan; 29(2):. PubMed ID: 36617173
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Identification of novel candidate genes for 46,XY disorders of sex development (DSD) using a C57BL/6J-Y
    Barseghyan H; Symon A; Zadikyan M; Almalvez M; Segura EE; Eskin A; Bramble MS; Arboleda VA; Baxter R; Nelson SF; Délot EC; Harley V; Vilain E
    Biol Sex Differ; 2018 Jan; 9(1):8. PubMed ID: 29378665
    [TBL] [Abstract][Full Text] [Related]  

  • 10. NR5A1-related 46,XY partial gonadal dysgenesis: A case report and literature review.
    Wei X; Li S; He Y
    Medicine (Baltimore); 2023 Dec; 102(52):e36725. PubMed ID: 38206718
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development.
    Rjiba K; Mougou-Zerelli S; Hamida IH; Saad G; Khadija B; Jelloul A; Slimani W; Hasni Y; Dimassi S; Khelifa HB; Sallem A; Kammoun M; Abdallah HH; Gribaa M; Bignon-Topalovic J; Chelly S; Khairi H; Bibi M; Kacem M; Saad A; Bashamboo A; McElreavey K
    Reprod Biol Endocrinol; 2023 Jan; 21(1):2. PubMed ID: 36631813
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. 46,XY disorder of sex development and developmental delay associated with a novel 9q33.3 microdeletion encompassing NR5A1.
    Brandt T; Blanchard L; Desai K; Nimkarn S; Cohen N; Edelmann L; Mehta L
    Eur J Med Genet; 2013 Nov; 56(11):619-23. PubMed ID: 24056159
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Exome sequencing for the diagnosis of 46,XY disorders of sex development.
    Baxter RM; Arboleda VA; Lee H; Barseghyan H; Adam MP; Fechner PY; Bargman R; Keegan C; Travers S; Schelley S; Hudgins L; Mathew RP; Stalker HJ; Zori R; Gordon OK; Ramos-Platt L; Pawlikowska-Haddal A; Eskin A; Nelson SF; Délot E; Vilain E
    J Clin Endocrinol Metab; 2015 Feb; 100(2):E333-44. PubMed ID: 25383892
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Advances in genomic diagnosis of a large cohort of Egyptian patients with disorders of sex development.
    Mazen I; Mekkawy M; Kamel A; Essawi M; Hassan H; Abdel-Hamid M; Amr K; Soliman H; El-Ruby M; Torky A; El Gammal M; Elaidy A; Bashamboo A; McElreavey K
    Am J Med Genet A; 2021 Jun; 185(6):1666-1677. PubMed ID: 33742552
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Screening and familial characterization of copy-number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failure.
    Harrison SM; Campbell IM; Keays M; Granberg CF; Villanueva C; Tannin G; Zinn AR; Castrillon DH; Shaw CA; Stankiewicz P; Baker LA
    Am J Med Genet A; 2013 Oct; 161A(10):2487-94. PubMed ID: 23918653
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Update--steroidogenic factor 1 (SF-1, NR5A1).
    Köhler B; Achermann JC
    Minerva Endocrinol; 2010 Jun; 35(2):73-86. PubMed ID: 20595937
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutation update for the NR5A1 gene involved in DSD and infertility.
    Fabbri-Scallet H; de Sousa LM; Maciel-Guerra AT; Guerra-Júnior G; de Mello MP
    Hum Mutat; 2020 Jan; 41(1):58-68. PubMed ID: 31513305
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.