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 *

230 related articles for article (PubMed ID: 31938931)

  • 1. Functional study of a novel c.630delG (p.Y211Tfs*85) mutation in NR5A1 gene in a Chinese boy with 46,XY disorders of sex development.
    Pan S; Guo S; Liu L; Yang X; Liang H
    J Assist Reprod Genet; 2020 Feb; 37(2):477-486. PubMed ID: 31938931
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. A novel c.64G > T (p.G22C) NR5A1 variant in a Chinese adolescent with 46,XY disorders of sex development: a case report.
    Zhang D; Wang D; Tong Y; Li M; Meng L; Song Q; Xin Y
    BMC Pediatr; 2023 Apr; 23(1):182. PubMed ID: 37072715
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Variants of
    Martínez de LaPiscina I; Mahmoud RA; Sauter KS; Esteva I; Alonso M; Costa I; Rial-Rodriguez JM; Rodríguez-Estévez A; Vela A; Castano L; Flück CE
    Int J Mol Sci; 2020 Nov; 21(22):. PubMed ID: 33202802
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Novel NR5A1 mutations found in Chinese patients with 46, XY disorders of sex development.
    Yu B; Liu Z; Gao Y; Mao J; Wang X; Hao M; Ma W; Huang Q; Zhang R; Nie M; Wu X
    Clin Endocrinol (Oxf); 2018 Nov; 89(5):613-620. PubMed ID: 30103258
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Mutation of c.244G>T in NR5A1 gene causing 46, XY DSD by affecting RNA splicing.
    Yu B; Gao Y; Mao J; Wang X; Nie M; Wu X
    Orphanet J Rare Dis; 2021 Aug; 16(1):370. PubMed ID: 34461970
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Identification and functional analysis of fourteen NR5A1 variants in patients with the 46 XY disorders of sex development.
    Na X; Mao Y; Tang Y; Jiang W; Yu J; Cao L; Yang J
    Gene; 2020 Nov; 760():145004. PubMed ID: 32738419
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. A novel heterozygous mutation of steroidogenic factor-1 (SF-1/Ad4BP) gene (NR5A1) in a 46, XY disorders of sex development (DSD) patient without adrenal failure.
    Tajima T; Fujiwara F; Fujieda K
    Endocr J; 2009; 56(4):619-24. PubMed ID: 19318730
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20. Two novel mutations in the NR5A1 gene as a cause of disorders of sex development in a Pakistani cohort of 46,XY patients.
    Hussain S; Amar A; Najeeb MN; Khaliq S
    Andrologia; 2016 Jun; 48(5):509-17. PubMed ID: 26260161
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.