BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

301 related articles for article (PubMed ID: 27490115)

  • 1. NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.
    Baetens D; Stoop H; Peelman F; Todeschini AL; Rosseel T; Coppieters F; Veitia RA; Looijenga LH; De Baere E; Cools M
    Genet Med; 2017 Apr; 19(4):367-376. PubMed ID: 27490115
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A 46,XX Ovotesticular Disorder of Sex Development Likely Caused by a Steroidogenic Factor-1 (NR5A1) Variant.
    Swartz JM; Ciarlo R; Guo MH; Abrha A; Weaver B; Diamond DA; Chan YM; Hirschhorn JN
    Horm Res Paediatr; 2017; 87(3):191-195. PubMed ID: 27855412
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development.
    Bashamboo A; Donohoue PA; Vilain E; Rojo S; Calvel P; Seneviratne SN; Buonocore F; Barseghyan H; Bingham N; Rosenfeld JA; Mulukutla SN; Jain M; Burrage L; Dhar S; Balasubramanyam A; Lee B; ; Dumargne MC; Eozenou C; Suntharalingham JP; de Silva K; Lin L; Bignon-Topalovic J; Poulat F; Lagos CF; McElreavey K; Achermann JC
    Hum Mol Genet; 2016 Aug; 25(16):3446-3453. PubMed ID: 27378692
    [TBL] [Abstract][Full Text] [Related]  

  • 4. NR5A1 gene variants repress the ovarian-specific WNT signaling pathway in 46,XX disorders of sex development patients.
    Knarston IM; Robevska G; van den Bergen JA; Eggers S; Croft B; Yates J; Hersmus R; Looijenga LHJ; Cameron FJ; Monhike K; Ayers KL; Sinclair AH
    Hum Mutat; 2019 Feb; 40(2):207-216. PubMed ID: 30350900
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular Tissues.
    Igarashi M; Takasawa K; Hakoda A; Kanno J; Takada S; Miyado M; Baba T; Morohashi KI; Tajima T; Hata K; Nakabayashi K; Matsubara Y; Sekido R; Ogata T; Kashimada K; Fukami M
    Hum Mutat; 2017 Jan; 38(1):39-42. PubMed ID: 27610946
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Are NR5A1 Variations a Frequent Cause of 46,XX Ovotesticular Disorders of Sex Development? Analysis from a Single Center and Systematic Review.
    Barros BA; Guaragna MS; Fabbri-Scallet H; Palandi de Mello M; Guerra-Júnior G; Maciel-Guerra AT
    Sex Dev; 2022; 16(4):242-251. PubMed ID: 36657429
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals.
    Domenice S; Machado AZ; Ferreira FM; Ferraz-de-Souza B; Lerario AM; Lin L; Nishi MY; Gomes NL; da Silva TE; Silva RB; Correa RV; Montenegro LR; Narciso A; Costa EM; Achermann JC; Mendonca BB
    Birth Defects Res C Embryo Today; 2016 Dec; 108(4):309-320. PubMed ID: 28033660
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A Follow-Up from Infancy to Puberty in a Japanese Male with SRY-Negative 46,XX Testicular Disorder of Sex Development Carrying a p.Arg92Trp Mutation in NR5A1.
    Saito-Hakoda A; Kanno J; Suzuki D; Kawashima S; Kamimura M; Hirano K; Sakai K; Igarashi M; Fukami M; Fujiwara I
    Sex Dev; 2019; 13(2):60-66. PubMed ID: 30739115
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Analysis of the gene coding for steroidogenic factor 1 (SF1, NR5A1) in a cohort of 50 Egyptian patients with 46,XY disorders of sex development.
    Tantawy S; Mazen I; Soliman H; Anwar G; Atef A; El-Gammal M; El-Kotoury A; Mekkawy M; Torky A; Rudolf A; Schrumpf P; Grüters A; Krude H; Dumargne MC; Astudillo R; Bashamboo A; Biebermann H; Köhler B
    Eur J Endocrinol; 2014 May; 170(5):759-67. PubMed ID: 24591553
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Duplication of SOX9 is not a common cause of 46,XX testicular or 46,XX ovotesticular DSD.
    Seeherunvong T; Ukarapong S; McElreavey K; Berkovitz GD; Perera EM
    J Pediatr Endocrinol Metab; 2012; 25(1-2):121-3. PubMed ID: 22570960
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A Duplication Upstream of SOX9 Associated with
    Mengen E; Kayhan G; Kocaay P; Uçaktürk SA
    J Clin Res Pediatr Endocrinol; 2020 Sep; 12(3):308-314. PubMed ID: 31476840
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Screening of MAMLD1 mutations in 70 children with 46,XY DSD: identification and functional analysis of two new mutations.
    Kalfa N; Fukami M; Philibert P; Audran F; Pienkowski C; Weill J; Pinto G; Manouvrier S; Polak M; Ogata T; Sultan C
    PLoS One; 2012; 7(3):e32505. PubMed ID: 22479329
    [TBL] [Abstract][Full Text] [Related]  

  • 13. XX Maleness and XX true hermaphroditism in SRY-negative monozygotic twins: additional evidence for a common origin.
    Maciel-Guerra AT; de Mello MP; Coeli FB; Ribeiro ML; Miranda ML; Marques-de-Faria AP; Baptista MT; Moraes SG; Guerra-Júnior G
    J Clin Endocrinol Metab; 2008 Feb; 93(2):339-43. PubMed ID: 18056774
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A missense mutation in NR5A1 causing female to male sex reversal: A case report.
    Askari M; Rastari M; Seresht-Ahmadi M; McElreavey K; Bashamboo A; Razzaghy-Azar M; Totonchi M
    Andrologia; 2020 Jul; 52(6):e13585. PubMed ID: 32271476
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Nuclear Receptor Gene Variants Underlying Disorders/Differences of Sex Development through Abnormal Testicular Development.
    Hattori A; Fukami M
    Biomolecules; 2023 Apr; 13(4):. PubMed ID: 37189438
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A report of two novel NR5A1 mutation families: possible clinical phenotype of psychiatric symptoms of anxiety and/or depression.
    Suwanai AS; Ishii T; Haruna H; Yamataka A; Narumi S; Fukuzawa R; Ogata T; Hasegawa T
    Clin Endocrinol (Oxf); 2013 Jun; 78(6):957-65. PubMed ID: 23095176
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals.
    Camats N; Pandey AV; Fernández-Cancio M; Andaluz P; Janner M; Torán N; Moreno F; Bereket A; Akcay T; García-García E; Muñoz MT; Gracia R; Nistal M; Castaño L; Mullis PE; Carrascosa A; Audí L; Flück CE
    J Clin Endocrinol Metab; 2012 Jul; 97(7):E1294-306. PubMed ID: 22549935
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Disorders of Sex Development with Testicular Differentiation in SRY-Negative 46,XX Individuals: Clinical and Genetic Aspects.
    Grinspon RP; Rey RA
    Sex Dev; 2016; 10(1):1-11. PubMed ID: 27055195
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 16.