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 *

148 related articles for article (PubMed ID: 27893151)

  • 1. Anomalies in human sex determination provide unique insights into the complex genetic interactions of early gonad development.
    Bashamboo A; Eozenou C; Rojo S; McElreavey K
    Clin Genet; 2017 Feb; 91(2):143-156. PubMed ID: 27893151
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Gonadal development.
    Lucas-Herald AK; Bashamboo A
    Endocr Dev; 2014; 27():1-16. PubMed ID: 25247640
    [TBL] [Abstract][Full Text] [Related]  

  • 4. CBX2 is required to stabilize the testis pathway by repressing Wnt signaling.
    Garcia-Moreno SA; Lin YT; Futtner CR; Salamone IM; Capel B; Maatouk DM
    PLoS Genet; 2019 May; 15(5):e1007895. PubMed ID: 31116734
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Human sex-determination and disorders of sex-development (DSD).
    Bashamboo A; McElreavey K
    Semin Cell Dev Biol; 2015 Sep; 45():77-83. PubMed ID: 26526145
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. Battle of the sexes: new insights into genetic pathways of gonadal development.
    Jameson JL; Achermann JC; Ozisik G; Meeks JJ
    Trans Am Clin Climatol Assoc; 2003; 114():51-63; discussion 64-5. PubMed ID: 12813911
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.
    Eggers S; Sadedin S; van den Bergen JA; Robevska G; Ohnesorg T; Hewitt J; Lambeth L; Bouty A; Knarston IM; Tan TY; Cameron F; Werther G; Hutson J; O'Connell M; Grover SR; Heloury Y; Zacharin M; Bergman P; Kimber C; Brown J; Webb N; Hunter MF; Srinivasan S; Titmuss A; Verge CF; Mowat D; Smith G; Smith J; Ewans L; Shalhoub C; Crock P; Cowell C; Leong GM; Ono M; Lafferty AR; Huynh T; Visser U; Choong CS; McKenzie F; Pachter N; Thompson EM; Couper J; Baxendale A; Gecz J; Wheeler BJ; Jefferies C; MacKenzie K; Hofman P; Carter P; King RI; Krausz C; van Ravenswaaij-Arts CM; Looijenga L; Drop S; Riedl S; Cools M; Dawson A; Juniarto AZ; Khadilkar V; Khadilkar A; Bhatia V; Dũng VC; Atta I; Raza J; Thi Diem Chi N; Hao TK; Harley V; Koopman P; Warne G; Faradz S; Oshlack A; Ayers KL; Sinclair AH
    Genome Biol; 2016 Nov; 17(1):243. PubMed ID: 27899157
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Steroidogenic factor-1 (SF-1, Ad4BP, NR5A1) and disorders of testis development.
    Lin L; Achermann JC
    Sex Dev; 2008; 2(4-5):200-9. PubMed ID: 18987494
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Genetic of gonadal determination.
    Morel Y; Roucher F; Mallet D; Plotton I
    Ann Endocrinol (Paris); 2014 May; 75(2):32-9. PubMed ID: 24793987
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Mammalian sex determination and gonad development.
    Wilhelm D; Yang JX; Thomas P
    Curr Top Dev Biol; 2013; 106():89-121. PubMed ID: 24290348
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Molecular and morphological differentiation of testes and ovaries in relation to the thermosensitive period of gonad development in the snapping turtle, Chelydra serpentina.
    Rhen T; Fagerlie R; Schroeder A; Crossley DA; Lang JW
    Differentiation; 2015; 89(1-2):31-41. PubMed ID: 25662229
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Multifunctional role of steroidogenic factor 1 and disorders of sex development.
    Mello MP; França ES; Fabbri HC; Maciel-Guerra AT; Guerra-Júnior G
    Arq Bras Endocrinol Metabol; 2011 Nov; 55(8):607-12. PubMed ID: 22218443
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Phenotypic Variation in 46,XX Disorders of Sex Development due to the NR5A1 p.R92W Variant: A Sibling Case Report and Literature Review.
    Takasawa K; Igarashi M; Ono M; Takemoto A; Takada S; Yamataka A; Ogata T; Morio T; Fukami M; Kashimada K
    Sex Dev; 2017; 11(5-6):284-288. PubMed ID: 29393271
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children.
    Bashamboo A; Eozenou C; Jorgensen A; Bignon-Topalovic J; Siffroi JP; Hyon C; Tar A; Nagy P; Sólyom J; Halász Z; Paye-Jaouen A; Lambert S; Rodriguez-Buritica D; Bertalan R; Martinerie L; Rajpert-De Meyts E; Achermann JC; McElreavey K
    Am J Hum Genet; 2018 Mar; 102(3):487-493. PubMed ID: 29478779
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Cis-Regulatory Control of Mammalian Sex Determination.
    Ridnik M; Schoenfelder S; Gonen N
    Sex Dev; 2021; 15(5-6):317-334. PubMed ID: 34710870
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.