| 1 | AIS, AR
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| Androgen insensitivity syndrome.
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| Hughes IA, Werner R, Bunch T, Hiort O.
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| Semin Reprod Med 30(5):432-42. doi: 10.1055/s-0032-1324728. Epub 2012 Oct 8. Review.
2012
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| 2 | AIS, AR
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| A large deletion/insertion-induced frameshift mutation of the androgen receptor gene in a family with a familial complete androgen insensitivity syndrome.
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| Cong P, Ye Y, Wang Y, Lu L, Yong J, Yu P, Joseph KK, Jin F, Qi M.
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| Gene 500(2):220-3. doi: 10.1016/j.gene.2012.02.028. Epub 2012 Mar 31.
2012
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| 3 | AIS, AR
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| A novel mutation F826L in the human androgen receptor in partial androgen insensitivity syndrome; increased NH2-/COOH-terminal domain interaction and TIF2 co-activation.
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| Wong HY, Hoogerbrugge JW, Pang KL, van Leeuwen M, van Royen ME, Molier M, Berrevoets CA, Dooijes D, Dubbink HJ, van de Wijngaart DJ, Wolffenbuttel KP, Trapman J, Kleijer WJ, Drop SL, Grootegoed JA, Brinkmann AO.
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| Mol Cell Endocrinol 292(1-2):69-78. Epub 2008 Jul 5.
2008
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| 4 | AR, AIS
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| Impaired helix 12 dynamics due to proline 892 substitutions in the androgen receptor are associated with complete androgen insensitivity.
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| Elhaji YA, Stoica I, Dennis S, Purisima EO, Lumbroso R, Beitel LK, Trifiro MA.
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| Hum Mol Genet 15(9):1561. No abstract available. 2006
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| 5 | AIS, ODG1
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| Consensus statement on management of intersex disorders.
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| Hughes IA, Houk C, Ahmed SF, Lee PA; LWPES Consensus Group; ESPE Consensus Group.
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| Arch Dis Child 91(7):554-63. Epub 2006 Apr 19. No abstract available. 2006
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| 6 | AR, AIS
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| Human androgen receptor gene ligand-binding-domain mutations leading to disrupted interaction between the N- and C-terminal domains.
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| JŠŠskelŠinen J, Deeb A, Schwabe JW, Mongan NP, Martin H, Hughes IA.
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| J Mol Endocrinol 36(2):361-8. 2006
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| 7 | AR, AIS
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| Molecular features and clinical phenotypes in androgen insensitivity syndrome in the absence and presence of androgen receptor gene mutations.
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| Holterhus PM, Werner R, Hoppe U, Bassler J, Korsch E, Ranke MB, Dorr HG, Hiort O.
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| J Mol Med 83(12):1005-13. Epub 2005 Nov 11. 2005
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| 8 | AR, AIS
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| Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome.
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| Chavez B, Mendez JP, Ulloa-Aguirre A, Larrea F, Vilchis F.
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| J Hum Genet 46(10):560-5. 2001
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| 9 | AR, AIS
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| Longer polyglutamine tracts in the androgen receptor are associated with moderate to severe undermasculinized genitalia in XY males.
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| Lim HN, Chen H, McBride S, Dunning AM, Nixon RM, Hughes IA, Hawkins JR.
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| Hum Mol Genet 9(5):829-34. 2000
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| 10 | AR, AIS
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| CAG repeat length in the androgen receptor gene of infertile Japanese males with oligozoospermia.
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| Komori S, et al.
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| Mol Hum Reprod 5(1):14-6. 1999
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| 11 | AR, AIS
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| Update of the androgen receptor gene mutations database.
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| Gottlieb B, et al.
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| Hum Mutat 14(2):103-14. 1999
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| 12 | AR, AIS
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| Complete androgen insensitivity caused by a splice donor site mutation in intron 2 of the human androgen receptor gene resulting in an exon 2-lacking transcript with premature stop-codon and reduced expression.
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| Hellwinkel OJ, et al.
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| J Steroid Biochem Mol Biol 68(1-2):1-9. 1999
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| 13 | AR, AIS
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| Complete androgen insensitivity caused by a new frameshift deletion of two base pairs in exon 1 of the human androgen receptor gene.
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| Thiele B, et al.
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| J Clin Endocrinol Metab 84(5):1751-3. 1999
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| 14 | AR, AIS
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| Linkage between male infertility and trinucleotide repeat expansion in the androgen-receptor gene.
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| Dowsing AT, et al.
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| Lancet 354(9179):640-3. 1999
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| 15 | AR, AIS
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| A practical approach to the detection of androgen receptor gene mutations and pedigree analysis in families with X-linked androgen insensitivity.
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| Ris-Stalpers C, et al.
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| Pediatr Res 36 : 227-234. 1994
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| 16 | AR, AIS
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| Complete testicular feminization caused by an amino-terminal truncation of the androgen receptor with downstream initiation.
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| Zoppi S, et al.
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| J Clin Invest 91 : 1105-1112. 1993
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| 17 | AR, AIS
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| Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome.
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| Batch JA, et al.
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| Hum Mol Genet 1 : 497-503. 1992
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| 18 | AR, AIS
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| Complete deletion of the androgen receptor gene : definition of the null phenotype of the androgen insensitivity syndrome and determination of carrier status.
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| Quigley CA, et al.
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| J Clin Endocrinol Metab 74 : 927-933. 1992
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| 19 | AR, AIS
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| Association of the Hind III polymorphism with the androgen receptor gene in partial androgen insensitivity syndrome.
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| Lobaccaro JM, et al.
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| Ann Genet 34 : 9-13. 1991
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| 20 | AR, AIS
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| Evidence for a partial deletion in the androgen receptor gene in a phenotypic male with azoospermia.
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| Akin JW, et al.
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| Am J Obstet Gynecol 165 : 1891-1894. 1991
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| 21 | AR, AIS
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| DNA linkage analysis and studies of the androgen receptor gene in a large kindred with complete androgen insensitivity.
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| Imperato-McGinley J, et al.
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| Am J Med Genet 36 : 104-108. 1990
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| 22 | AR, AIS
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| Definition of the human androgen receptor gene structure permits the identification of mutations that cause androgen resistance: premature termination of the receptor protein at amino acid residue 588 causes complete androgen resistance.
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| Marcelli M, et al.
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| Mol Endocrinol 4 : 1105-1116. 1990
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| 23 | AR, AIS
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| An exonic point mutation of the androgen receptor gene in a family with complete androgen insensitivity.
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| Sai T, et al.
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| Am J Hum Genet 46 : 1095-1100. 1990
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| 24 | AR, AIS
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| Aberrant splicing of androgen receptor mRNA results in synthesis of a nonfunctional receptor protein in a patient with androgen insensitivity.
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| Ris-Stalpers C, et al.
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| Proc Natl Acad Sci U S A 87 : 7866-7870. 1990
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| 25 | AR, AIS
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| 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.
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| Lubahn DB, et al.
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| Proc Natl Acad Sci U S A 86 : 9534-9538. 1989
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| 26 | AR, AIS
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| Deletion of the steroid-binding domain of the human androgen receptor gene in one family with complete androgen insensitivity syndrome: Evidence for further genetic heterogeneity in this syndrome.
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| Brown TR, et al.
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| Proc Natl Acad Sci U S A 85 : 8151-8155. 1988
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| 27 | AR, DXS1, AIS
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| Genetic linkage of testicular feminization syndrome to DXS1 and PGK1.
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| Balazs I, et al.
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| Am J Hum Genet 43 : A136. 1988
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| 28 | AR, DXS1, AIS
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| Linkage analysis with RFLPs in families with androgen resistance syndromes : evidence for close linkage between the androgen receptor locus and DXS1 segment.
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| Wieacker P, et al.
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| Hum Genet 76 : 248-252. 1987
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