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 *

185 related articles for article (PubMed ID: 15472171)

  • 1. Gonadal dysgenesis without adrenal insufficiency in a 46, XY patient heterozygous for the nonsense C16X mutation: a case of SF1 haploinsufficiency.
    Mallet D; Bretones P; Michel-Calemard L; Dijoud F; David M; Morel Y
    J Clin Endocrinol Metab; 2004 Oct; 89(10):4829-32. PubMed ID: 15472171
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Testicular dysgenesis without adrenal insufficiency in a 46,XY patient with a heterozygous inactive mutation of steroidogenic factor-1.
    Hasegawa T; Fukami M; Sato N; Katsumata N; Sasaki G; Fukutani K; Morohashi K; Ogata T
    J Clin Endocrinol Metab; 2004 Dec; 89(12):5930-5. PubMed ID: 15579739
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function.
    Lin L; Philibert P; Ferraz-de-Souza B; Kelberman D; Homfray T; Albanese A; Molini V; Sebire NJ; Einaudi S; Conway GS; Hughes IA; Jameson JL; Sultan C; Dattani MT; Achermann JC
    J Clin Endocrinol Metab; 2007 Mar; 92(3):991-9. PubMed ID: 17200175
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A novel mutation in the accessory DNA-binding domain of human steroidogenic factor 1 causes XY gonadal dysgenesis without adrenal insufficiency.
    Reuter AL; Goji K; Bingham NC; Matsuo M; Parker KL
    Eur J Endocrinol; 2007 Aug; 157(2):233-8. PubMed ID: 17656604
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency.
    Köhler B; Lin L; Ferraz-de-Souza B; Wieacker P; Heidemann P; Schröder V; Biebermann H; Schnabel D; Grüters A; Achermann JC
    Hum Mutat; 2008 Jan; 29(1):59-64. PubMed ID: 17694559
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Heterozygous mutation of steroidogenic factor-1 in 46,XY subjects may mimic partial androgen insensitivity syndrome.
    Coutant R; Mallet D; Lahlou N; Bouhours-Nouet N; Guichet A; Coupris L; Croué A; Morel Y
    J Clin Endocrinol Metab; 2007 Aug; 92(8):2868-73. PubMed ID: 17488792
    [TBL] [Abstract][Full Text] [Related]  

  • 7. SF1 in the development of the adrenal gland and gonads.
    Ozisik G; Achermann JC; Meeks JJ; Jameson JL
    Horm Res; 2003; 59 Suppl 1():94-8. PubMed ID: 12566727
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience.
    Lin L; Gu WX; Ozisik G; To WS; Owen CJ; Jameson JL; Achermann JC
    J Clin Endocrinol Metab; 2006 Aug; 91(8):3048-54. PubMed ID: 16684822
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Identification of novel SRY mutations and SF1 (NR5A1) changes in patients with pure gonadal dysgenesis and 46,XY karyotype.
    Paliwal P; Sharma A; Birla S; Kriplani A; Khadgawat R; Sharma A
    Mol Hum Reprod; 2011 Jun; 17(6):372-8. PubMed ID: 21242195
    [TBL] [Abstract][Full Text] [Related]  

  • 11. NR5A1 Loss-of-Function Mutations Lead to 46,XY Partial Gonadal Dysgenesis Phenotype: Report of Three Novel Mutations.
    Fabbri HC; Ribeiro de Andrade JG; Maciel-Guerra AT; Guerra-Júnior G; de Mello MP
    Sex Dev; 2016; 10(4):191-199. PubMed ID: 27463801
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study.
    Philibert P; Zenaty D; Lin L; Soskin S; Audran F; Léger J; Achermann JC; Sultan C
    Hum Reprod; 2007 Dec; 22(12):3255-61. PubMed ID: 17940071
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A microdeletion in the ligand binding domain of human steroidogenic factor 1 causes XY sex reversal without adrenal insufficiency.
    Correa RV; Domenice S; Bingham NC; Billerbeck AE; Rainey WE; Parker KL; Mendonca BB
    J Clin Endocrinol Metab; 2004 Apr; 89(4):1767-72. PubMed ID: 15070943
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [XY type gonadal dysgenesis, trisomy X and variants].
    Kikuchi I; Takeuchi H; Kinoshita K
    Nihon Rinsho; 2004 Feb; 62(2):309-12. PubMed ID: 14968537
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The role of SF1 in adrenal and reproductive function: insight from naturally occurring mutations in humans.
    Ozisik G; Achermann JC; Jameson JL
    Mol Genet Metab; 2002 Jun; 76(2):85-91. PubMed ID: 12083805
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner.
    Achermann JC; Ozisik G; Ito M; Orun UA; Harmanci K; Gurakan B; Jameson JL
    J Clin Endocrinol Metab; 2002 Apr; 87(4):1829-33. PubMed ID: 11932325
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A novel heterozygous mutation in steroidogenic factor-1 in pubertal virilization of a 46,XY female adolescent.
    Sıklar Z; Berberoğlu M; Ceylaner S; Çamtosun E; Kocaay P; Göllü G; Sertçelik A; Öcal G
    J Pediatr Adolesc Gynecol; 2014 Apr; 27(2):98-101. PubMed ID: 24231572
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Report of a kindred with X-linked (or autosomal dominant sex-limited) 46,XY partial gonadal dysgenesis.
    Fechner PY; Marcantonio SM; Ogata T; Rosales TO; Smith KD; Goodfellow PN; Migeon CJ; Berkovitz GD
    J Clin Endocrinol Metab; 1993 May; 76(5):1248-53. PubMed ID: 8496317
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Pure 46,XY gonadal dysgenesis].
    Ságodi L; Ladányi E; Kiss Á; Tar A; Lukács V; Minik K; Vámosi I
    Orv Hetil; 2010 Nov; 151(48):1991-5. PubMed ID: 21084251
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Clinical and molecular characteristics of patients with 46,XY DSD due to NR5A1 gene mutations].
    Kalinchenko NY; Kolodkina AA; Raygorodskaya NY; Tiulpakov AN
    Probl Endokrinol (Mosk); 2020 Sep; 66(3):62-69. PubMed ID: 33351340
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.