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 *

321 related articles for article (PubMed ID: 27378692)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 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. 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]  

  • 7. 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]  

  • 8. Mutations in NR5A1 associated with ovarian insufficiency.
    Lourenço D; Brauner R; Lin L; De Perdigo A; Weryha G; Muresan M; Boudjenah R; Guerra-Junior G; Maciel-Guerra AT; Achermann JC; McElreavey K; Bashamboo A
    N Engl J Med; 2009 Mar; 360(12):1200-10. PubMed ID: 19246354
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. The novel p.Cys65Tyr mutation in NR5A1 gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiency.
    Fabbri HC; de Andrade JG; Soardi FC; de Calais FL; Petroli RJ; Maciel-Guerra AT; Guerra-Júnior G; de Mello MP
    BMC Med Genet; 2014 Jan; 15():7. PubMed ID: 24405868
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Three new SF-1 (NR5A1) gene mutations in two unrelated families with multiple affected members: within-family variability in 46,XY subjects and low ovarian reserve in fertile 46,XX subjects.
    Warman DM; Costanzo M; Marino R; Berensztein E; Galeano J; Ramirez PC; Saraco N; Baquedano MS; Ciaccio M; Guercio G; Chaler E; Maceiras M; Lazzatti JM; Bailez M; Rivarola MA; Belgorosky A
    Horm Res Paediatr; 2011; 75(1):70-7. PubMed ID: 20861607
    [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. Testis formation in XX individuals resulting from novel pathogenic variants in Wilms' tumor 1 (
    Eozenou C; Gonen N; Touzon MS; Jorgensen A; Yatsenko SA; Fusee L; Kamel AK; Gellen B; Guercio G; Singh P; Witchel S; Berman AJ; Mainpal R; Totonchi M; Mohseni Meybodi A; Askari M; Merel-Chali T; Bignon-Topalovic J; Migale R; Costanzo M; Marino R; Ramirez P; Perez Garrido N; Berensztein E; Mekkawy MK; Schimenti JC; Bertalan R; Mazen I; McElreavey K; Belgorosky A; Lovell-Badge R; Rajkovic A; Bashamboo A
    Proc Natl Acad Sci U S A; 2020 Jun; 117(24):13680-13688. PubMed ID: 32493750
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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]  

  • 19. 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]  

  • 20. Novel NR5A1 Pathogenic Variants Cause Phenotypic Heterogeneity in 46,XY Disorders of Sex Development.
    Sudhakar DVS; Jaishankar S; Regur P; Kumar U; Singh R; Kabilan U; Namduri S; Dhyani J; Gupta NJ; Chakravarthy B; Vaman K; Shabir I; Khadgawat R; Deenadayal M; Chaitanya A D; Dada R; Sharma Y; Anand A; Thangaraj K
    Sex Dev; 2019; 13(4):178-186. PubMed ID: 32008008
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 17.