These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

530 related items for PubMed ID: 1480178

  • 21. Two de novo mutations in the AR gene cause the complete androgen insensitivity syndrome in a pair of monozygotic twins.
    Mongan NP, Jääskeläinen J, Green K, Schwabe JW, Shimura N, Dattani M, Hughes IA.
    J Clin Endocrinol Metab; 2002 Mar; 87(3):1057-61. PubMed ID: 11889162
    [Abstract] [Full Text] [Related]

  • 22. 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; 23(3):287. PubMed ID: 14974091
    [Abstract] [Full Text] [Related]

  • 23. 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
    [Abstract] [Full Text] [Related]

  • 24. 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 Jul; 63(6):263-9. PubMed ID: 15925895
    [Abstract] [Full Text] [Related]

  • 25. 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 Jul; 46(2):101-5. PubMed ID: 16302589
    [Abstract] [Full Text] [Related]

  • 26. Immunoreactive AR and genetic alterations in subjects with androgen resistance and undetectable AR levels in genital skin fibroblast ligand-binding assays.
    Avila DM, Wilson CM, Nandi N, Griffin JE, McPhaul MJ.
    J Clin Endocrinol Metab; 2002 Jan; 87(1):182-8. PubMed ID: 11788645
    [Abstract] [Full Text] [Related]

  • 27. 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
    [Abstract] [Full Text] [Related]

  • 28. A novel androgen receptor mutation resulting in complete androgen insensitivity syndrome and bilateral Leydig cell hyperplasia.
    Singh R, Shastry PK, Rasalkar AA, Singh L, Thangaraj K.
    J Androl; 2006 May; 27(4):510-6. PubMed ID: 16582414
    [Abstract] [Full Text] [Related]

  • 29. Identification of a critical novel mutation in the exon 1 of androgen receptor gene in 2 brothers with complete androgen insensitivity syndrome.
    Radpour R, Falah M, Aslani A, Zhong XY, Saleki A.
    J Androl; 2009 May; 30(3):230-2. PubMed ID: 19023143
    [Abstract] [Full Text] [Related]

  • 30. A single amino acid substitution (Met786----Val) in the steroid-binding domain of human androgen receptor leads to complete androgen insensitivity syndrome.
    Nakao R, Haji M, Yanase T, Ogo A, Takayanagi R, Katsube T, Fukumaki Y, Nawata H.
    J Clin Endocrinol Metab; 1992 May; 74(5):1152-7. PubMed ID: 1569163
    [Abstract] [Full Text] [Related]

  • 31. 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 May; 14(6):527-39. PubMed ID: 10571951
    [Abstract] [Full Text] [Related]

  • 32. Androgen insensitivity syndrome: somatic mosaicism of the androgen receptor in seven families and consequences for sex assignment and genetic counseling.
    Köhler B, Lumbroso S, Leger J, Audran F, Grau ES, Kurtz F, Pinto G, Salerno M, Semitcheva T, Czernichow P, Sultan C.
    J Clin Endocrinol Metab; 2005 Jan; 90(1):106-11. PubMed ID: 15522944
    [Abstract] [Full Text] [Related]

  • 33. 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 Jan; 5(1):28-33. PubMed ID: 7537149
    [Abstract] [Full Text] [Related]

  • 34. Impaired nuclear translocation, nuclear matrix targeting, and intranuclear mobility of mutant androgen receptors carrying amino acid substitutions in the deoxyribonucleic acid-binding domain derived from androgen insensitivity syndrome patients.
    Kawate H, Wu Y, Ohnaka K, Tao RH, Nakamura K, Okabe T, Yanase T, Nawata H, Takayanagi R.
    J Clin Endocrinol Metab; 2005 Nov; 90(11):6162-9. PubMed ID: 16118342
    [Abstract] [Full Text] [Related]

  • 35. 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
    [Abstract] [Full Text] [Related]

  • 36. 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
    [Abstract] [Full Text] [Related]

  • 37. Partial androgen insensitivity with phenotypic variation caused by androgen receptor mutations that disrupt activation function 2 and the NH(2)- and carboxyl-terminal interaction.
    Quigley CA, Tan JA, He B, Zhou ZX, Mebarki F, Morel Y, Forest MG, Chatelain P, Ritzén EM, French FS, Wilson EM.
    Mech Ageing Dev; 2004 Sep; 125(10-11):683-95. PubMed ID: 15541764
    [Abstract] [Full Text] [Related]

  • 38. Discordant measures of androgen-binding kinetics in two mutant androgen receptors causing mild or partial androgen insensitivity, respectively.
    Shkolny DL, Beitel LK, Ginsberg J, Pekeles G, Arbour L, Pinsky L, Trifiro MA.
    J Clin Endocrinol Metab; 1999 Feb; 84(2):805-10. PubMed ID: 10022458
    [Abstract] [Full Text] [Related]

  • 39. G708E mutation in the androgen receptor results in complete loss of androgen function.
    Rajender S, Pooja S, Gupta NJ, Chakrabarty B, Singh L, Thangaraj K.
    J Androl; 2011 Feb; 32(2):193-8. PubMed ID: 20671138
    [Abstract] [Full Text] [Related]

  • 40. Partial androgen insensitivity and correlations with the predicted three dimensional structure of the androgen receptor ligand-binding domain.
    Yong EL, Tut TG, Ghadessy FJ, Prins G, Ratnam SS.
    Mol Cell Endocrinol; 1998 Feb; 137(1):41-50. PubMed ID: 9607727
    [Abstract] [Full Text] [Related]

    Page: [Previous] [Next] [New Search]
    of 27.