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Journal Abstract Search

456 related items for PubMed ID: 11587068

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  • 3. Correlation between genotype, phenotype and sex of rearing in 111 patients with partial androgen insensitivity syndrome.
    Deeb A, Mason C, Lee YS, Hughes IA.
    Clin Endocrinol (Oxf); 2005 Jul; 63(1):56-62. PubMed ID: 15963062
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  • 5. 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; 6(2):152-62. PubMed ID: 7581399
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  • 7. 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
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  • 8. [Deletion of thymine at position 2298 in exon 5 of the androgenic receptor gene causing complete androgen insensitivity syndrome].
    Soriano Guillén L, Muñoz Calvo MT, Martinez Pérez J, Pozo Román J, Martín Sobrino MA, González Medeiro I, Argente Oliver J.
    An Esp Pediatr; 2002 Apr; 56(4):347-52. PubMed ID: 11927080
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  • 9. Altered mRNA expression due to insertion or substitution of thymine at position +3 of two splice-donor sites in the androgen receptor gene.
    Trifiro MA, Lumbroso R, Beitel LK, Vasiliou DM, Bouchard J, Deal C, Van Vliet G, Pinsky L.
    Eur J Hum Genet; 1997 Apr; 5(1):50-8. PubMed ID: 9156321
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  • 10. Five novel androgen receptor gene mutations associated with complete androgen insensitivity syndrome.
    Jääskeläinen J, Mongan NP, Harland S, Hughes IA.
    Hum Mutat; 2006 Mar; 27(3):291. PubMed ID: 16470553
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  • 11. Novel point mutation in the splice donor site of exon-intron junction 6 of the androgen receptor gene in a patient with partial androgen insensitivity syndrome.
    Sammarco I, Grimaldi P, Rossi P, Cappa M, Moretti C, Frajese G, Geremia R.
    J Clin Endocrinol Metab; 2000 Sep; 85(9):3256-61. PubMed ID: 10999818
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  • 13. Analysis of exon 1 mutations in the androgen receptor gene.
    Gottlieb B, Vasiliou DM, Lumbroso R, Beitel LK, Pinsky L, Trifiro MA.
    Hum Mutat; 1999 Sep; 14(6):527-39. PubMed ID: 10571951
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  • 14. Complete androgen insensitivity without Wolffian duct development: the AR-A form of the androgen receptor is not sufficient for male genital development.
    Barbaro M, Oscarson M, Almskog I, Hamberg H, Wedell A.
    Clin Endocrinol (Oxf); 2007 Jun; 66(6):822-6. PubMed ID: 17408421
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  • 15. 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 Jun; 63(6):263-9. PubMed ID: 15925895
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  • 16. The clinical and molecular spectrum of androgen insensitivity syndromes.
    Hiort O, Sinnecker GH, Holterhus PM, Nitsche EM, Kruse K.
    Am J Med Genet; 1996 May 03; 63(1):218-22. PubMed ID: 8723113
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  • 17. Partial androgen insensitivity syndrome with R840H mutation in androgen receptor: report of one case.
    Yen JL, Chang KH, Sheu JC, Lee YJ, Tsai LP.
    Acta Paediatr Taiwan; 2005 May 03; 46(2):101-5. PubMed ID: 16302589
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  • 18. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug 03; 56(3):105-52. PubMed ID: 19728970
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  • 19. A new missense substitution at a mutational hot spot of the androgen receptor in siblings with complete androgen insensitivity syndrome.
    Dörk T, Schnieders F, Jakubiczka S, Wieacker P, Schroeder-Kurth T, Schmidtke J.
    Hum Mutat; 1998 Aug 03; 11(4):337-9. PubMed ID: 9554754
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  • 20. Leu-676-Pro mutation of the androgen receptor causes complete androgen insensitivity syndrome in a large Hutterite kindred.
    Belsham DD, Pereira F, Greenberg CR, Liao S, Wrogemann K.
    Hum Mutat; 1995 Aug 03; 5(1):28-33. PubMed ID: 7537149
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