BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

279 related articles for article (PubMed ID: 31513305)

  • 1. 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]  

  • 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. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. Functional characterization of five NR5A1 gene mutations found in patients with 46,XY disorders of sex development.
    Fabbri-Scallet H; de Mello MP; Guerra-Júnior G; Maciel-Guerra AT; de Andrade JGR; de Queiroz CMC; Monlleó IL; Struve D; Hiort O; Werner R
    Hum Mutat; 2018 Jan; 39(1):114-123. PubMed ID: 29027717
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development.
    Robevska G; van den Bergen JA; Ohnesorg T; Eggers S; Hanna C; Hersmus R; Thompson EM; Baxendale A; Verge CF; Lafferty AR; Marzuki NS; Santosa A; Listyasari NA; Riedl S; Warne G; Looijenga L; Faradz S; Ayers KL; Sinclair AH
    Hum Mutat; 2018 Jan; 39(1):124-139. PubMed ID: 29027299
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46, XY disorders of sex development (DSD) including hypospadias.
    Allali S; Muller JB; Brauner R; Lourenço D; Boudjenah R; Karageorgou V; Trivin C; Lottmann H; Lortat-Jacob S; Nihoul-Fékété C; De Dreuzy O; McElreavey K; Bashamboo A
    PLoS One; 2011; 6(10):e24117. PubMed ID: 22028768
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Mutational and functional studies on NR5A1 gene in 46,XY disorders of sex development: identification of six novel loss of function mutations.
    Rocca MS; Ortolano R; Menabò S; Baronio F; Cassio A; Russo G; Balsamo A; Ferlin A; Baldazzi L
    Fertil Steril; 2018 Jun; 109(6):1105-1113. PubMed ID: 29935645
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 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. 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]  

  • 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. Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations.
    Tantawy S; Lin L; Akkurt I; Borck G; Klingmüller D; Hauffa BP; Krude H; Biebermann H; Achermann JC; Köhler B
    Eur J Endocrinol; 2012 Jul; 167(1):125-30. PubMed ID: 22474171
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin?
    Camats N; Fernández-Cancio M; Audí L; Schaller A; Flück CE
    Eur J Hum Genet; 2018 Sep; 26(9):1329-1338. PubMed ID: 29891883
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Next-generation sequencing reveals genetic landscape in 46, XY disorders of sexual development patients with variable phenotypes.
    Wang H; Zhang L; Wang N; Zhu H; Han B; Sun F; Yao H; Zhang Q; Zhu W; Cheng T; Cheng K; Liu Y; Zhao S; Song H; Qiao J
    Hum Genet; 2018 Mar; 137(3):265-277. PubMed ID: 29582157
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.