BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

299 related articles for article (PubMed ID: 17694559)

  • 1. 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]  

  • 2. 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]  

  • 3. [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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. Novel Heterozygous Mutations of NR5A1 and Their Functional Characteristics in Patients with 46,XY Disorders of Sex Development without Adrenal Insufficiency.
    Woo KH; Cheon B; Kim JH; Cho J; Kim GH; Yoo HW; Choi JH
    Horm Res Paediatr; 2015; 84(2):116-23. PubMed ID: 26139438
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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]  

  • 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. Partial deletion of the NR5A1 (SF1) gene detected by synthetic probe MLPA in a patient with XY gonadal disorder of sex development.
    Barbaro M; Cools M; Looijenga LH; Drop SL; Wedell A
    Sex Dev; 2011; 5(4):181-7. PubMed ID: 21654157
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 15.