-
1
-
-
0026544312
-
Androgen resistance. The clinical and molecular spectrum
-
Griffin JE. 1992 Androgen resistance. The clinical and molecular spectrum. N Engl J Med. 362:611-618.
-
(1992)
N Engl J Med
, vol.362
, pp. 611-618
-
-
Griffin, J.E.1
-
2
-
-
0027402346
-
The spectrum of mutations in the androgen receptor gene that causes androgen resistance
-
McPhaul MJ, Marcelli M, Zoppi S, Griffin JE, Wilson JD. 1993 The spectrum of mutations in the androgen receptor gene that causes androgen resistance. J Clin Endocrinol Metab. 76:17-23.
-
(1993)
J Clin Endocrinol Metab
, vol.76
, pp. 17-23
-
-
McPhaul, M.J.1
Marcelli, M.2
Zoppi, S.3
Griffin, J.E.4
Wilson, J.D.5
-
3
-
-
0024306555
-
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
-
Lubahn DB, Brown TR, Simental JA, et al. 1989 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. Proc Natl Acad Sci USA. 86:9534-9538.
-
(1989)
Proc Natl Acad Sci USA
, vol.86
, pp. 9534-9538
-
-
Lubahn, D.B.1
Brown, T.R.2
Simental, J.A.3
-
4
-
-
0029069878
-
Androgen receptor defects: Historical, clinical, and molecular perspectives
-
Quigley CA, De Bellis A, Marschke KB, et al. 1995 Androgen receptor defects: historical, clinical, and molecular perspectives. Endocr Rev. 16:271-321.
-
(1995)
Endocr Rev
, vol.16
, pp. 271-321
-
-
Quigley, C.A.1
De Bellis, A.2
Marschke, K.B.3
-
5
-
-
0028347740
-
What are the indications for prenatal diagnosis in the androgen insensitivity syndrome-facing clinical heterogeneity of phenotypes for the same genotype
-
Morel Y, Mebarki F, Forest M. 1994 What are the indications for prenatal diagnosis in the androgen insensitivity syndrome-facing clinical heterogeneity of phenotypes for the same genotype. Eur J Endocrinol. 130:325-326.
-
(1994)
Eur J Endocrinol
, vol.130
, pp. 325-326
-
-
Morel, Y.1
Mebarki, F.2
Forest, M.3
-
6
-
-
0024581106
-
Androgen resistance associated with a qualitative abnormality of the androgen receptor and responsive to high-dose androgen therapy
-
Grino PB, Isidro-Gutierrez RF, Griffin JE, Wilson JD. 1989 Androgen resistance associated with a qualitative abnormality of the androgen receptor and responsive to high-dose androgen therapy. J Clin Endocrinol Metab. 68:578-584.
-
(1989)
J Clin Endocrinol Metab
, vol.68
, pp. 578-584
-
-
Grino, P.B.1
Isidro-Gutierrez, R.F.2
Griffin, J.E.3
Wilson, J.D.4
-
7
-
-
0025858749
-
Molecular basis of androgen resistance in a family with a qualitative abnormality of the androgen receptor and responsive to high-dose androgen therapy
-
McPhaul MJ, Marcelli M, Tilley WD, et al. 1991 Molecular basis of androgen resistance in a family with a qualitative abnormality of the androgen receptor and responsive to high-dose androgen therapy. J Clin Endocrinol Metab. 87:1413-1421.
-
(1991)
J Clin Endocrinol Metab
, vol.87
, pp. 1413-1421
-
-
McPhaul, M.J.1
Marcelli, M.2
Tilley, W.D.3
-
8
-
-
0022526564
-
Comparative effects of cyproterone acetate or a long-acting gonadotropin-releasing hormone agonist in polycystic ovarian disease
-
Couzinet B, Le Strat N, Brailly S, Schaison G. 1986 Comparative effects of cyproterone acetate or a long-acting gonadotropin-releasing hormone agonist in polycystic ovarian disease. J Clin Endocrinol Metab. 63:1031-1035.
-
(1986)
J Clin Endocrinol Metab
, vol.63
, pp. 1031-1035
-
-
Couzinet, B.1
Le Strat, N.2
Brailly, S.3
Schaison, G.4
-
9
-
-
0026588737
-
Progesterone stimulates luteinizing hormone secretion by acting directly on the pituitary
-
Couzinet B, Brailly S, Bouchard P, Schaison G. 1992 Progesterone stimulates luteinizing hormone secretion by acting directly on the pituitary. J Clin Endocrinol Metab. 74:374-378.
-
(1992)
J Clin Endocrinol Metab
, vol.74
, pp. 374-378
-
-
Couzinet, B.1
Brailly, S.2
Bouchard, P.3
Schaison, G.4
-
11
-
-
0027166172
-
A point mutation in the second zinc finger of the DNA-binding domain of the androgen receptor gene couses complete androgen insensitivity in two siblings with receptor-positive androgen resistance
-
Mowszowicz I, Lee HJ, Chen HT, et al. 1993 A point mutation in the second zinc finger of the DNA-binding domain of the androgen receptor gene couses complete androgen insensitivity in two siblings with receptor-positive androgen resistance. Mol Endocrinol. 7:861-869.
-
(1993)
Mol Endocrinol
, vol.7
, pp. 861-869
-
-
Mowszowicz, I.1
Lee, H.J.2
Chen, H.T.3
-
13
-
-
10144228764
-
Complete direct sequencing of the entire AR gone in 45 unrelated patients with androgen insensitivity syndrome: Identification of 34 mutations (18 are novel) and no mutation detected in 11 subjects (25% of the cases)
-
Mebarki F, Forest M, Josso N, Chatelein P, David M, Morel Y. 1994 Complete direct sequencing of the entire AR gone in 45 unrelated patients with androgen insensitivity syndrome: identification of 34 mutations (18 are novel) and no mutation detected in 11 subjects (25% of the cases). Am J Hum Genet. [Suppl]41:A178.
-
(1994)
Am J Hum Genet
, vol.41
, Issue.SUPPL.
-
-
Mebarki, F.1
Forest, M.2
Josso, N.3
Chatelein, P.4
David, M.5
Morel, Y.6
-
14
-
-
0343356754
-
De novo mutation of the androgen receptor gene is not a rare event in androgen insensitivity syndrome as suggested by segregation of the trinucleotide repeat in the exon 1 and sequencing
-
Las Vegas NV, (Abstract)
-
Mebarki F, Forest M, Bertrand AM, et al. De novo mutation of the androgen receptor gene is not a rare event in androgen insensitivity syndrome as suggested by segregation of the trinucleotide repeat in the exon 1 and sequencing. Program of the 75th Annual Meeting of The Endocrine Society, Las Vegas NV, 1993, (Abstract) p 602.
-
(1993)
Program of the 75th Annual Meeting of the Endocrine Society
, pp. 602
-
-
Mebarki, F.1
Forest, M.2
Bertrand, A.M.3
-
16
-
-
0027521663
-
A mutation in CFTR produces different phenotypes depending on chromosomal background
-
Kiesewetter S, Macek Jr M, Davis C, et al. 1993 A mutation in CFTR produces different phenotypes depending on chromosomal background. Nat Genet. 5:274-278.
-
(1993)
Nat Genet
, vol.5
, pp. 274-278
-
-
Kiesewetter, S.1
Macek Jr., M.2
Davis, C.3
-
17
-
-
0027241002
-
The syndrome of resistance to thyroid hormone
-
Refetoff S, Weiss RE, Usala SJ. 1993 The syndrome of resistance to thyroid hormone. Endocr Rev. 14:348-399.
-
(1993)
Endocr Rev
, vol.14
, pp. 348-399
-
-
Refetoff, S.1
Weiss, R.E.2
Usala, S.J.3
-
18
-
-
0027193565
-
Phenotypic variation and detection of carrier status in the partial androgen insensitivity syndrome
-
Batch JA, Davies HR, Evans BAJ, Hughes IA, Patterson MN. 1993 Phenotypic variation and detection of carrier status in the partial androgen insensitivity syndrome. Arch Dis Child. 68:453-457.
-
(1993)
Arch Dis Child
, vol.68
, pp. 453-457
-
-
Batch, J.A.1
Davies, H.R.2
Evans, B.A.J.3
Hughes, I.A.4
Patterson, M.N.5
-
19
-
-
0026939531
-
Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome
-
Batch JA, Williams DM, Davies HR, et al. 1992 Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome. Hum Mol Genet. 1:497-503.
-
(1992)
Hum Mol Genet
, vol.1
, pp. 497-503
-
-
Batch, J.A.1
Williams, D.M.2
Davies, H.R.3
-
20
-
-
0028275415
-
A practical approach to the detection of the androgen receptor gene mutations and pedigree analysis in families with X-linked androgen insensitivity
-
Ris-Stalpers C, Hoogenboezem T, Sleddens HFBM, et al. 1994 A practical approach to the detection of the androgen receptor gene mutations and pedigree analysis in families with X-linked androgen insensitivity. Pediatr Res. 36:227-234.
-
(1994)
Pediatr Res
, vol.36
, pp. 227-234
-
-
Ris-Stalpers, C.1
Hoogenboezem, T.2
Sleddens, H.F.B.M.3
-
21
-
-
0027085771
-
Androgen resistance due to mutation of the androgen receptor
-
Pinsky L, Trifiro M, Kaufman M, et al. 1992 Androgen resistance due to mutation of the androgen receptor. Clin Invest Med. 15:456-472.
-
(1992)
Clin Invest Med
, vol.15
, pp. 456-472
-
-
Pinsky, L.1
Trifiro, M.2
Kaufman, M.3
-
22
-
-
0026483082
-
Mutations in the ligand-binding domain of the androgen receptor cluster in two regions of the gene
-
McPhaul MJ, Marcelli M, Zoppi S, et al. 1992 Mutations in the ligand-binding domain of the androgen receptor cluster in two regions of the gene. J Clin Invest. 90:2097-2101.
-
(1992)
J Clin Invest
, vol.90
, pp. 2097-2101
-
-
McPhaul, M.J.1
Marcelli, M.2
Zoppi, S.3
-
23
-
-
0027967064
-
Amino acid substitutions in the hormone-binding domain of the human androgen receptor alter the stability of the hormone receptor complex
-
Marcelli M, Zoppi S, Wilson CM, Griffin JE, McPhaul MJ. 1994 Amino acid substitutions in the hormone-binding domain of the human androgen receptor alter the stability of the hormone receptor complex. J Clin Invest. 94:1642-1650.
-
(1994)
J Clin Invest
, vol.94
, pp. 1642-1650
-
-
Marcelli, M.1
Zoppi, S.2
Wilson, C.M.3
Griffin, J.E.4
McPhaul, M.J.5
-
24
-
-
0028062887
-
Induction of translation by the 5′-untranslated region of human androgen receptor mRNA
-
Mikozami A, Chang C. 1994 Induction of translation by the 5′-untranslated region of human androgen receptor mRNA. J Biol Chem. 269:25655-25659.
-
(1994)
J Biol Chem
, vol.269
, pp. 25655-25659
-
-
Mikozami, A.1
Chang, C.2
-
25
-
-
0027468178
-
Related individuals with different androgen receptor deletions
-
MacLean HE, Chu S, Warne GE, Zajac JD. 1993 Related individuals with different androgen receptor deletions. J Clin Invest. 91:1123-1128.
-
(1993)
J Clin Invest
, vol.91
, pp. 1123-1128
-
-
MacLean, H.E.1
Chu, S.2
Warne, G.E.3
Zajac, J.D.4
-
26
-
-
0027267497
-
Receptor accessory factor enhances specific DNA binding of androgen and glucocorticoid receptors
-
Kupfer SR, Marschke KB, Wilson EM, French FS. 1993 Receptor accessory factor enhances specific DNA binding of androgen and glucocorticoid receptors, J Biol Chem. 268:17519-17527.
-
(1993)
J Biol Chem
, vol.268
, pp. 17519-17527
-
-
Kupfer, S.R.1
Marschke, K.B.2
Wilson, E.M.3
French, F.S.4
-
27
-
-
0027994209
-
Stimulation of androgen-regulated transactivation by modulators of protein phosphorylation
-
Ikonen T, Palvimo JJ, Kallio PJ, Reinikainen P, Jänne O. 1994 Stimulation of androgen-regulated transactivation by modulators of protein phosphorylation. Endocrinology. 135:1359-1366.
-
(1994)
Endocrinology
, vol.135
, pp. 1359-1366
-
-
Ikonen, T.1
Palvimo, J.J.2
Kallio, P.J.3
Reinikainen, P.4
Jänne, O.5
-
28
-
-
0027394555
-
Mineralocorticoid and glucocorticoid receptor activities distinguished by nonreceptor factors at a composite response element
-
Pearce D, Yamamoto KR. 1993 Mineralocorticoid and glucocorticoid receptor activities distinguished by nonreceptor factors at a composite response element. Science. 259:1161-1165.
-
(1993)
Science
, vol.259
, pp. 1161-1165
-
-
Pearce, D.1
Yamamoto, K.R.2
-
29
-
-
0027495704
-
The adenovirus-mediated delivery of a reporter gene permits the assessment of androgen receptor function in genital skin fibroblast cultures
-
McPhaul MJ, Deslypere JP, Allmam DL, Gerard RD. 1993 The adenovirus-mediated delivery of a reporter gene permits the assessment of androgen receptor function in genital skin fibroblast cultures. J Biol Chem. 35:26063-26066.
-
(1993)
J Biol Chem
, vol.35
, pp. 26063-26066
-
-
McPhaul, M.J.1
Deslypere, J.P.2
Allmam, D.L.3
Gerard, R.D.4
|