BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

308 related articles for article (PubMed ID: 20150575)

  • 1. Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development.
    Audi L; Fernández-Cancio M; Carrascosa A; Andaluz P; Torán N; Piró C; Vilaró E; Vicens-Calvet E; Gussinyé M; Albisu MA; Yeste D; Clemente M; Hernández de la Calle I; Del Campo M; Vendrell T; Blanco A; Martínez-Mora J; Granada ML; Salinas I; Forn J; Calaf J; Angerri O; Martínez-Sopena MJ; Del Valle J; García E; Gracia-Bouthelier R; Lapunzina P; Mayayo E; Labarta JI; Lledó G; Sánchez Del Pozo J; Arroyo J; Pérez-Aytes A; Beneyto M; Segura A; Borrás V; Gabau E; Caimarí M; Rodríguez A; Martínez-Aedo MJ; Carrera M; Castaño L; Andrade M; Bermúdez de la Vega JA;
    J Clin Endocrinol Metab; 2010 Apr; 95(4):1876-88. PubMed ID: 20150575
    [TBL] [Abstract][Full Text] [Related]  

  • 2. AR and SRD5A2 gene mutations in a series of 51 Turkish 46,XY DSD children with a clinical diagnosis of androgen insensitivity.
    Akcay T; Fernandez-Cancio M; Turan S; Güran T; Audi L; Bereket A
    Andrology; 2014 Jul; 2(4):572-8. PubMed ID: 24737579
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A novel mutation (c.T3816 > C) in the androgen receptor gene in a 46,XY female patient with androgen insensitivity syndrome.
    Helszer Z; Dmochowska A; Borkowska E; Moczulska H; Słowikowska-Hilczer J; Pietrusiński M; Jędrzejczyk S; Kałużewski B
    Endokrynol Pol; 2013; 64(5):398-402. PubMed ID: 24186597
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Novel mutations of the SRD5A2 and AR genes in Thai patients with 46, XY disorders of sex development.
    Ittiwut C; Pratuangdejkul J; Supornsilchai V; Muensri S; Hiranras Y; Sahakitrungruang T; Watcharasindhu S; Suphapeetiporn K; Shotelersuk V
    J Pediatr Endocrinol Metab; 2017 Jan; 30(1):19-26. PubMed ID: 27849622
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Investigation of androgen receptor gene mutations in a series of 21 patients with 46,XY disorders of sex development.
    Topcu V; Ilgin-Ruhi H; Siklar Z; Karabulut HG; Berberoglu M; Hacihamdioglu B; Savas-Erdeve S; Aycan Z; Peltek-Kendirci HN; Ocal G; Tukun FA
    J Pediatr Endocrinol Metab; 2015 Nov; 28(11-12):1257-63. PubMed ID: 26197461
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Phenotypic variation in a family with partial androgen insensitivity syndrome explained by differences in 5alpha dihydrotestosterone availability.
    Boehmer AL; Brinkmann AO; Nijman RM; Verleun-Mooijman MC; de Ruiter P; Niermeijer MF; Drop SL
    J Clin Endocrinol Metab; 2001 Mar; 86(3):1240-6. PubMed ID: 11238515
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Clinical characteristics and molecular genetics of complete androgen insensitivity syndrome patients: a series study of 30 cases from a Chinese tertiary medical center.
    Zhang D; Yao F; Tian T; Deng S; Luo M; Tian Q
    Fertil Steril; 2021 May; 115(5):1270-1279. PubMed ID: 33602557
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Clinical, hormonal, behavioral, and genetic characteristics of androgen insensitivity syndrome in a Brazilian cohort: five novel mutations in the androgen receptor gene.
    Melo KF; Mendonca BB; Billerbeck AE; Costa EM; Inácio M; Silva FA; Leal AM; Latronico AC; Arnhold IJ
    J Clin Endocrinol Metab; 2003 Jul; 88(7):3241-50. PubMed ID: 12843171
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Novel and recurrent mutations in patients with androgen insensitivity syndromes.
    Ledig S; Jakubiczka S; Neulen J; Aulepp U; Burck-Lehmann U; Mohnike K; Thiele H; Zierler H; Brewer C; Wieacker P
    Horm Res; 2005; 63(6):263-9. PubMed ID: 15925895
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Androgen insensitivity syndrome in a cohort of Sri Lankan children with 46, XY disorders of sex development (46, XY DSD).
    de Silva KS; Sirisena ND; Wijenayaka HK; Cooray JG; Jayasekara RW; Dissanayake VH
    Ceylon Med J; 2015 Dec; 60(4):139-42. PubMed ID: 26778393
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Clinical, hormonal and genetic characteristics of androgen insensitivity syndrome in 39 Chinese patients.
    Liu Q; Yin X; Li P
    Reprod Biol Endocrinol; 2020 Apr; 18(1):34. PubMed ID: 32345305
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A novel mutation (c.2735_2736delTC) in the androgen receptor gene in 46,XY females with complete androgen insensitivity syndrome in an Egyptian family.
    Mazen I; Soliman H; El-Gammal M; Torky A; Mekkawy M; Abdel-Hamid MS; Essawi M
    Horm Res Paediatr; 2014; 82(6):411-4. PubMed ID: 25034089
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Screening for mutations in 17β-hydroxysteroid dehydrogenase and androgen receptor in women presenting with partially virilised 46,XY disorders of sex development.
    Phelan N; Williams EL; Cardamone S; Lee M; Creighton SM; Rumsby G; Conway GS
    Eur J Endocrinol; 2015 Jun; 172(6):745-51. PubMed ID: 25740850
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome.
    Chávez B; Méndez JP; Ulloa-Aguirre A; Larrea F; Vilchis F
    J Hum Genet; 2001; 46(10):560-5. PubMed ID: 11587068
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mutations in the amino-terminal domain of the human androgen receptor may be associated with partial androgen insensitivity and impaired transactivation in vitro.
    Holterhus PM; Werner R; Struve D; Hauffa BP; Schroeder C; Hiort O
    Exp Clin Endocrinol Diabetes; 2005 Sep; 113(8):457-63. PubMed ID: 16151980
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Molecular features and clinical phenotypes in androgen insensitivity syndrome in the absence and presence of androgen receptor gene mutations.
    Holterhus PM; Werner R; Hoppe U; Bassler J; Korsch E; Ranke MB; Dörr HG; Hiort O
    J Mol Med (Berl); 2005 Dec; 83(12):1005-13. PubMed ID: 16283146
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Genotype versus phenotype in families with androgen insensitivity syndrome.
    Boehmer AL; Brinkmann O; Brüggenwirth H; van Assendelft C; Otten BJ; Verleun-Mooijman MC; Niermeijer MF; Brunner HG; Rouwé CW; Waelkens JJ; Oostdijk W; Kleijer WJ; van der Kwast TH; de Vroede MA; Drop SL
    J Clin Endocrinol Metab; 2001 Sep; 86(9):4151-60. PubMed ID: 11549642
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Molecular investigation of mutations in androgen receptor and 5-alpha-reductase-2 genes in 46,XY Disorders of Sex Development with normal testicular development.
    Ahmadifard M; Kajbafzadeh A; Panjeh-Shahi S; Vand-Rajabpour F; Ahmadi-Beni R; Arshadi H; Setoodeh A; Rostami P; Tavakkoly-Bazzaz J; Tabrizi M
    Andrologia; 2019 Jun; 51(5):e13250. PubMed ID: 30815925
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Novel mutation in the ligand-binding domain of the androgen receptor gene (l790p) associated with complete androgen insensitivity syndrome.
    Raicu F; Giuliani R; Gatta V; Palka C; Franchi PG; Lelli-Chiesa P; Tumini S; Stuppia L
    Asian J Androl; 2008 Jul; 10(4):687-91. PubMed ID: 18097502
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.