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Journal Abstract Search

257 related items for PubMed ID: 27994190

  • 1. Three novel and two known androgen receptor gene mutations associated with androgen insensitivity syndrome in sex-reversed XY female patients.
    Saranya B, Bhavani G, Arumugam B, Jayashankar M, Santhiya ST.
    J Genet; 2016 Dec; 95(4):911-921. PubMed ID: 27994190
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  • 4. 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
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  • 5. 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
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  • 9. Case report of whole genome sequencing in the XY female: identification of a novel SRY mutation and revision of a misdiagnosis of androgen insensitivity syndrome.
    De Sousa SM, Kassahn KS, McIntyre LC, Chong CE, Scott HS, Torpy DJ.
    BMC Endocr Disord; 2016 Nov 08; 16(1):58. PubMed ID: 27821113
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  • 10. Novel androgen receptor gene mutations in Australian patients with complete androgen insensitivity syndrome.
    MacLean HE, Ball EM, Rekaris G, Warne GL, Zajac JD.
    Hum Mutat; 2004 Mar 08; 23(3):287. PubMed ID: 14974091
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  • 11. Clinical, hormonal and genetic characteristics of androgen insensitivity syndrome in 39 Chinese patients.
    Liu Q, Yin X, Li P.
    Reprod Biol Endocrinol; 2020 Apr 28; 18(1):34. PubMed ID: 32345305
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  • 12. 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 28; 10(4):687-91. PubMed ID: 18097502
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  • 13. L712V mutation in the androgen receptor gene causes complete androgen insensitivity syndrome due to severe loss of androgen function.
    Rajender S, Gupta NJ, Chakrabarty B, Singh L, Thangaraj K.
    Steroids; 2013 Dec 11; 78(12-13):1288-92. PubMed ID: 24055831
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  • 14. 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 11; 2(4):572-8. PubMed ID: 24737579
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  • 15. Human androgen insensitivity due to point mutations encoding amino acid substitutions in the androgen receptor steroid-binding domain.
    Murono K, Mendonca BB, Arnhold IJ, Rigon AC, Migeon CJ, Brown TR.
    Hum Mutat; 1995 Jul 11; 6(2):152-62. PubMed ID: 7581399
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  • 18. A novel splice site and two known mutations of androgen receptor gene in sex-reversed XY phenotype.
    Vasu VR, Saranya B, Jayashankar M, Munirajan AK, Santhiya ST.
    Genet Test Mol Biomarkers; 2012 Jul 11; 16(7):749-55. PubMed ID: 22799610
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  • 19. 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, Grupo de Apoyo al Síndrome de Insensibilidad a los Andrógenos (GrApSIA).
    J Clin Endocrinol Metab; 2010 Apr 11; 95(4):1876-88. PubMed ID: 20150575
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