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Journal Abstract Search

202 related items for PubMed ID: 1424203

  • 1. Point mutations detected in the androgen receptor gene of three men with partial androgen insensitivity syndrome.
    Saunders PT, Padayachi T, Tincello DG, Shalet SM, Wu FC.
    Clin Endocrinol (Oxf); 1992 Sep; 37(3):214-20. PubMed ID: 1424203
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  • 2. 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 Sep; 6(2):152-62. PubMed ID: 7581399
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  • 3. Correlation of clinical, endocrine and molecular abnormalities with in vivo responses to high-dose testosterone in patients with partial androgen insensitivity syndrome.
    Tincello DG, Saunders PT, Hodgins MB, Simpson NB, Edwards CR, Hargreaves TB, Wu FC.
    Clin Endocrinol (Oxf); 1997 Apr; 46(4):497-506. PubMed ID: 9196614
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  • 4. Molecular basis of androgen insensitivity.
    Brüggenwirth HT, Boehmer AL, Verleun-Mooijman MC, Hoogenboezem T, Kleijer WJ, Otten BJ, Trapman J, Brinkmann AO.
    J Steroid Biochem Mol Biol; 1996 Aug; 58(5-6):569-75. PubMed ID: 8918984
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  • 5. Point mutation in the steroid-binding domain of the androgen receptor gene in a family with complete androgen insensitivity syndrome (CAIS).
    Jakubiczka S, Werder EA, Wieacker P.
    Hum Genet; 1992 Nov; 90(3):311-2. PubMed ID: 1487249
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  • 8. A novel substitution (Leu707Arg) in exon 4 of the androgen receptor gene causes complete androgen resistance.
    Lumbroso S, Lobaccaro JM, Georget V, Leger J, Poujol N, Térouanne B, Evain-Brion D, Czernichow P, Sultan C.
    J Clin Endocrinol Metab; 1996 May; 81(5):1984-8. PubMed ID: 8626869
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  • 13. Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity.
    Lubahn DB, Brown TR, Simental JA, Higgs HN, Migeon CJ, Wilson EM, French FS.
    Proc Natl Acad Sci U S A; 1989 Dec; 86(23):9534-8. PubMed ID: 2594783
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  • 14. Substitution of valine-865 by methionine or leucine in the human androgen receptor causes complete or partial androgen insensitivity, respectively with distinct androgen receptor phenotypes.
    Kazemi-Esfarjani P, Beitel LK, Trifiro M, Kaufman M, Rennie P, Sheppard P, Matusik R, Pinsky L.
    Mol Endocrinol; 1993 Jan; 7(1):37-46. PubMed ID: 8446106
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  • 15. Single amino acid substitution (840Arg-->His) in the hormone-binding domain of the androgen receptor leads to incomplete androgen insensitivity syndrome associated with a thermolabile androgen receptor.
    Imasaki K, Hasegawa T, Okabe T, Sakai Y, Haji M, Takayanagi R, Nawata H.
    Eur J Endocrinol; 1994 Jun; 130(6):569-74. PubMed ID: 8205256
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  • 16. Complete androgen insensitivity syndrome caused by the R855H mutation in the androgen receptor gene.
    Skordis N, Lumbroso S, Perikleous M, Sismani C, Patsalis PC, Sultan C.
    J Pediatr Endocrinol Metab; 2005 Mar; 18(3):309-13. PubMed ID: 15813610
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  • 17. Clinical, cytogenetic and molecular analysis of androgen insensitivity syndromes from south Indian cohort and detection and in-silico characterization of androgen receptor gene mutations.
    V G A, S R, K M M, K T, S A, S N, A MP, J M, D A.
    Clin Chim Acta; 2016 Jan 30; 453():123-30. PubMed ID: 26688387
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  • 19. Androgen receptor gene mutation associated with complete androgen insensitivity syndrome and Sertoli cell adenoma.
    Ko HM, Chung JH, Lee JH, Jung IS, Choi IS, Juhng SW, Choi C.
    Int J Gynecol Pathol; 2001 Apr 30; 20(2):196-9. PubMed ID: 11293168
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  • 20. An androgen receptor mutation in the direct vicinity of the proposed C-terminal alpha-helix of the ligand binding domain containing the AF-2 transcriptional activating function core is associated with complete androgen insensitivity.
    Peters I, Weidemann W, Romalo G, Knorr D, Schweikert HU, Spindler KD.
    Mol Cell Endocrinol; 1999 Feb 25; 148(1-2):47-53. PubMed ID: 10221770
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