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144 related items for PubMed ID: 12466388
1. Pathophysiology of androgen insensitivity syndromes: molecular and structural approaches of natural and engineered androgen receptor mutations at amino acid 743. Poujol N, Lumbroso S, Térouanne B, Lobaccaro JM, Bourguet W, Sultan C. J Clin Endocrinol Metab; 2002 Dec; 87(12):5793-800. PubMed ID: 12466388 [Abstract] [Full Text] [Related]
2. Comparison of the molecular consequences of different mutations at residue 754 and 690 of the androgen receptor (AR) and androgen insensitivity syndrome (AIS) phenotype. Tadokoro R, Bunch T, Schwabe JW, Hughes IA, Murphy JC. Clin Endocrinol (Oxf); 2009 Aug; 71(2):253-60. PubMed ID: 19178528 [Abstract] [Full Text] [Related]
3. 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]
5. An examination of how different mutations at arginine 855 of the androgen receptor result in different androgen insensitivity phenotypes. Elhaji YA, Wu JH, Gottlieb B, Beitel LK, Alvarado C, Batist G, Trifiro MA. Mol Endocrinol; 2004 Aug; 18(8):1876-86. PubMed ID: 15118070 [Abstract] [Full Text] [Related]
13. 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 [Abstract] [Full Text] [Related]
14. 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 Jan; 6(2):152-62. PubMed ID: 7581399 [Abstract] [Full Text] [Related]