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Results: 1 to 20 of 131

1.

A large deletion/insertion-induced frameshift mutation of the androgen receptor gene in a family with a familial complete androgen insensitivity syndrome.

Cong P, Ye Y, Wang Y, Lu L, Yong J, Yu P, Joseph KK, Jin F, Qi M.

Gene. 2012 Jun 1;500(2):220-3. doi: 10.1016/j.gene.2012.02.028. Epub 2012 Mar 31.

PMID:
22487869
[PubMed - indexed for MEDLINE]
2.

Extreme androgen resistance in a kindred with a novel insertion/deletion mutation in exon 5 of the androgen receptor gene.

Vilchis F, Ramos L, Kofman-Alfaro S, Zenteno JC, Méndez JP, Chávez B.

J Hum Genet. 2003;48(7):346-51. Epub 2003 Jun 7.

PMID:
12908100
[PubMed - indexed for MEDLINE]
3.

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;63(6):263-9. Epub 2005 May 26.

PMID:
15925895
[PubMed - indexed for MEDLINE]
4.

Molecular features and clinical phenotypes in androgen insensitivity syndrome in the absence and presence of androgen receptor gene mutations.

Holterhus PM, Werner R, Hoppe U, Bassler J, Korsch E, Ranke MB, Dörr HG, Hiort O.

J Mol Med (Berl). 2005 Dec;83(12):1005-13. Epub 2005 Nov 11.

PMID:
16283146
[PubMed - indexed for MEDLINE]
5.

A novel mutation in the CAG triplet region of exon 1 of androgen receptor gene causes complete androgen insensitivity syndrome in a large kindred.

Zhu YS, Cai LQ, Cordero JJ, Canovatchel WJ, Katz MD, Imperato-McGinley J.

J Clin Endocrinol Metab. 1999 May;84(5):1590-4.

PMID:
10323385
[PubMed - indexed for MEDLINE]
6.

Clinical and genetic characterization of complete androgen insensitivity syndrome in a Chinese family.

Li BK, Ding Q, Wan XD, Wang X.

Genet Mol Res. 2011 May 31;10(2):1022-31. doi: 10.4238/vol10-2gmr1130.

PMID:
21710452
[PubMed - indexed for MEDLINE]
Free Article
7.

A practical approach to the detection of androgen receptor gene mutations and pedigree analysis in families with x-linked androgen insensitivity.

Ris-Stalpers C, Hoogenboezem T, Sleddens HF, Verleun-Mooijman MC, Degenhart HJ, Drop SL, Halley DJ, Oosterwijk JC, Hodgins MB, Trapman J, et al.

Pediatr Res. 1994 Aug;36(2):227-34.

PMID:
7970939
[PubMed - indexed for MEDLINE]
8.

[Identification of a novel frameshift mutation of human androgen receptor gene in a patient featuring complete androgen insensitivity syndrome].

Xie JH, Qu JH, Xiao QZ, Zhou YQ.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Feb;30(1):99-101. doi: 10.3760/cma.j.issn.1003-9406.2013.01.024. Chinese.

PMID:
23450491
[PubMed - indexed for MEDLINE]
9.

A double nucleotide insertion-induced frame-shift mutation of the androgen receptor gene in a familial complete androgen insensitivity syndrome.

Rong HL, Suzuki N, Imai A.

Eur J Obstet Gynecol Reprod Biol. 2010 Jan;148(1):53-5. doi: 10.1016/j.ejogrb.2009.09.012. Epub .

PMID:
19815331
[PubMed - indexed for MEDLINE]
10.

Molecular analysis of familial androgen insensitivity syndrome due to replacement of glutamic acid 802 by lysine.

Sawai H, Komori S, Sakata K, Nakae K, Shima H, Matsumoto F, Matsumoto H, Onishi Y, Okada Y, Yoshida O, Koyama K.

J Hum Genet. 2000;45(6):342-5.

PMID:
11185742
[PubMed - indexed for MEDLINE]
11.

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.

PMID:
8205256
[PubMed - indexed for MEDLINE]
12.

[A novel deletion mutation in AR gene causes complete androgen insensitivity syndrome in a Chinese family].

Yue L, Wu P, Xia Z, Fan C, Xia Q.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Dec;27(6):631-3. doi: 10.3760/cma.j.issn.1003-9406.2010.06.006. Chinese.

PMID:
21154321
[PubMed - indexed for MEDLINE]
13.

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-Jun;30(3):230-2. doi: 10.2164/jandrol.108.005520. Epub 2008 Nov 20.

PMID:
19023143
[PubMed - indexed for MEDLINE]
Free Article
15.

Frame-shift mutation in hormone binding domain of human androgen receptor gene causes complete androgen insensitivity.

Chung HW, Kim SC, Kim HL.

Mol Cells. 1998 Dec 31;8(6):741-5.

PMID:
9895128
[PubMed - indexed for MEDLINE]
Free Article
16.

Androgen receptor gene mutation identified by PCR-SSCP and sequencing in 4 patients with complete androgen insensitivity syndrome.

Choi C, Kim KC, Kim HO, Cho SH, Lee JB, Kim IS, Park KK, Cho NH, Juhng SW.

Arch Gynecol Obstet. 2000 Apr;263(4):201-5.

PMID:
10834333
[PubMed - indexed for MEDLINE]
17.

Complete androgen insensitivity caused by a new frameshift deletion of two base pairs in exon 1 of the human androgen receptor gene.

Thiele B, Weidemann W, Schnabel D, Romalo G, Schweikert HU, Spindler KD.

J Clin Endocrinol Metab. 1999 May;84(5):1751-3.

PMID:
10323411
[PubMed - indexed for MEDLINE]
18.

[Replacement of androgen receptor gene causes complete androgen insensitivity in a large family].

Qin YY, Gao X, You L, Li Y, Yan JH, Zhao YR, Chen ZJ.

Zhonghua Fu Chan Ke Za Zhi. 2008 Nov;43(11):828-30. Chinese.

PMID:
19087565
[PubMed - indexed for MEDLINE]
19.

[Mutation analysis of the androgen receptor gene in a complete androgen insensitivity syndrome family].

Wu W, Luo F, Geng Q, Hao Y, Chen W, Cai J, Xie J.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Dec;26(6):606-9. doi: 10.3760/cma.j.issn.1003-9406.2009.06.001. Chinese.

PMID:
19953479
[PubMed - indexed for MEDLINE]
20.

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.

PMID:
8918984
[PubMed - indexed for MEDLINE]

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