-
1
-
-
0036153346
-
The genetics of male undermasculinisation
-
S.F. Ahmed, and I.A. Hughes The genetics of male undermasculinisation Clin. Endocrinol. 56 2002 1 18
-
(2002)
Clin. Endocrinol.
, vol.56
, pp. 1-18
-
-
Ahmed, S.F.1
Hughes, I.A.2
-
2
-
-
0034454581
-
Phenotypic features, androgen receptor binding and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome
-
S.F. Ahmed, A. Cheng, and L.A. Dovey Phenotypic features, androgen receptor binding and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome J. Clin. Endocrinol. Metab. 85 2000 658 665
-
(2000)
J. Clin. Endocrinol. Metab.
, vol.85
, pp. 658-665
-
-
Ahmed, S.F.1
Cheng, A.2
Dovey, L.A.3
-
3
-
-
0034004353
-
The onset of germ cell migration in the mouse embryo
-
R. Anderson, T.K. Copeland, H. Scholer, J. Heasman, and C. Wylie The onset of germ cell migration in the mouse embryo Mech. Dev. 91 2000 61 68
-
(2000)
Mech. Dev.
, vol.91
, pp. 61-68
-
-
Anderson, R.1
Copeland, T.K.2
Scholer, H.3
Heasman, J.4
Wylie, C.5
-
4
-
-
20344385787
-
Epigenetic transgenerational actions of endocrine disruptors and male fertility
-
M.D. Anway, A.S. Cupp, M. Uzumco, and Skinner Epigenetic transgenerational actions of endocrine disruptors and male fertility Science 308 2005 1466 1469
-
(2005)
Science
, vol.308
, pp. 1466-1469
-
-
Anway, M.D.1
Cupp, A.S.2
Uzumco, M.3
Skinner4
-
5
-
-
0036217072
-
The lutropin/choriogonadotropin receptor, a 2002 perspective
-
M. Ascoli, F. Fanelli, and D.L. Segaloff The lutropin/choriogonadotropin receptor, a 2002 perspective Endocr. Rev. 23 2002 141 174
-
(2002)
Endocr. Rev.
, vol.23
, pp. 141-174
-
-
Ascoli, M.1
Fanelli, F.2
Segaloff, D.L.3
-
6
-
-
0033233294
-
17β-Hydroxysteroid dehydrogenase-3 deficiency: Diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations
-
A.L.M. Boehmer, A.O. Brinkmann, and L.A. Sandkuijl 17β- Hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations J. Clin. Endocrinol. Metab. 84 1999 4713 4721
-
(1999)
J. Clin. Endocrinol. Metab.
, vol.84
, pp. 4713-4721
-
-
Boehmer, A.L.M.1
Brinkmann, A.O.2
Sandkuijl, L.A.3
-
8
-
-
0030832217
-
Phenotypic diversity in siblings with partial androgen insensitivity syndrome
-
B.A. Evans, I.A. Hughes, C.L. Bevan, M.N. Patterson, and J.W. Gregory Phenotypic diversity in siblings with partial androgen insensitivity syndrome Arch. Dis. Child. 76 1997 529 531
-
(1997)
Arch. Dis. Child.
, vol.76
, pp. 529-531
-
-
Evans, B.A.1
Hughes, I.A.2
Bevan, C.L.3
Patterson, M.N.4
Gregory, J.W.5
-
9
-
-
0028135336
-
Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene
-
J.W. Foster, M.A. Dominguez-Steglich, and S. Guioli Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene Nature 372 1994 525 530
-
(1994)
Nature
, vol.372
, pp. 525-530
-
-
Foster, J.W.1
Dominguez-Steglich, M.A.2
Guioli, S.3
-
11
-
-
0028587166
-
The genetics of Wilms' tumour: A case of disrupted development
-
N.D. Hastie The genetics of Wilms' tumour: a case of disrupted development Ann. Rev. Genet. 28 1994 523 528
-
(1994)
Ann. Rev. Genet.
, vol.28
, pp. 523-528
-
-
Hastie, N.D.1
-
13
-
-
0032725866
-
Autosomal XX sex reversal caused by duplication of SOX9
-
B. Huang, S. Wang, Y. Ning, A.N. Lamb, and J. Bartley Autosomal XX sex reversal caused by duplication of SOX9 Am. J. Med. Genet. 87 1999 349 353
-
(1999)
Am. J. Med. Genet.
, vol.87
, pp. 349-353
-
-
Huang, B.1
Wang, S.2
Ning, Y.3
Lamb, A.N.4
Bartley, J.5
-
14
-
-
0008019386
-
Disorders of sexual development
-
R.V. Thakker Chapman & Hall London
-
I.A. Hughes Disorders of sexual development R.V. Thakker Molecular Genetics of Endocrine Disorders 1997 Chapman & Hall London 881 882
-
(1997)
Molecular Genetics of Endocrine Disorders
, pp. 881-882
-
-
Hughes, I.A.1
-
15
-
-
0016359646
-
Steroid 5α-reductase deficiency in man: An inherited form of male pseudohermaphroditism
-
J. Imperato-McGinley, L. Guerrero, T. Gautier, and R.E. Peterson Steroid 5α-reductase deficiency in man: an inherited form of male pseudohermaphroditism Science 186 1974 1213 1216
-
(1974)
Science
, vol.186
, pp. 1213-1216
-
-
Imperato-Mcginley, J.1
Guerrero, L.2
Gautier, T.3
Peterson, R.E.4
-
16
-
-
0037731743
-
Transduction pathway of anti-Müllerian hormone, a sex-specific member of the TGF-beta family
-
N. Josso, and N. di Clemente Transduction pathway of anti-Müllerian hormone, a sex-specific member of the TGF-beta family Trends. Endocrinol. Metab. 14 2003 91 97
-
(2003)
Trends. Endocrinol. Metab.
, vol.14
, pp. 91-97
-
-
Josso, N.1
Di Clemente, N.2
-
17
-
-
0030851322
-
Clinical aspects and molecular genetics of the persistent Müllerian duct syndrome
-
N. Josso, J.Y. Picard, S. Imbeaud, N. di Clemente, and R. Rey Clinical aspects and molecular genetics of the persistent Müllerian duct syndrome Clin. Endocrinol. 47 1997 137 144
-
(1997)
Clin. Endocrinol.
, vol.47
, pp. 137-144
-
-
Josso, N.1
Picard, J.Y.2
Imbeaud, S.3
Di Clemente, N.4
Rey, R.5
-
18
-
-
0000009634
-
Problems of fetal endocrinology: The gonadal and hypophyseal hormones
-
A. Jost Problems of fetal endocrinology: the gonadal and hypophyseal hormones Rec. Progr. Horm. Res. 8 1953 379 418
-
(1953)
Rec. Progr. Horm. Res.
, vol.8
, pp. 379-418
-
-
Jost, A.1
-
20
-
-
0031922880
-
Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1+/-KTS splice isoforms
-
B. Klamt, A. Koziell, and F. Poulat Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1+/-KTS splice isoforms Hum. Mol. Genet. 7 1998 709 714
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 709-714
-
-
Klamt, B.1
Koziell, A.2
Poulat, F.3
-
21
-
-
0035967923
-
The genetics and biology of vertebrate sex determination
-
P. Koopman The genetics and biology of vertebrate sex determination Cell 105 2001 843 847
-
(2001)
Cell
, vol.105
, pp. 843-847
-
-
Koopman, P.1
-
22
-
-
0025800526
-
Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
-
A.R. La Spada, E.M. Wilson, D.B. Lubahn, A.E. Harding, and K.H. Fischbeck Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy Nature 352 1991 77 79
-
(1991)
Nature
, vol.352
, pp. 77-79
-
-
La Spada, A.R.1
Wilson, E.M.2
Lubahn, D.B.3
Harding, A.E.4
Fischbeck, K.H.5
-
23
-
-
0034701253
-
Longer polyglutamine tracts in the androgen receptor are associated with moderate to severe undermasculinised genitalia in XY males
-
H.N. Lim, H. Chen, and S. McBride Longer polyglutamine tracts in the androgen receptor are associated with moderate to severe undermasculinised genitalia in XY males Hum. Mol. Genet. 9 2000 829 834
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 829-834
-
-
Lim, H.N.1
Chen, H.2
McBride, S.3
-
24
-
-
0035094486
-
Substitution mutation C268Y causes 17β-hydroxysteroid dehydrogenase deficiency
-
A. Lindqvist, I.A. Hughes, and S. Andersson Substitution mutation C268Y causes 17β-hydroxysteroid dehydrogenase deficiency J. Clin. Endocrinol. Metab. 86 2001 921 923
-
(2001)
J. Clin. Endocrinol. Metab.
, vol.86
, pp. 921-923
-
-
Lindqvist, A.1
Hughes, I.A.2
Andersson, S.3
-
25
-
-
0030891372
-
A clinical overview of WT1 gene mutations
-
M. Little, and C. Wells A clinical overview of WT1 gene mutations Hum. Mutat. 9 1995 209 225
-
(1995)
Hum. Mutat.
, vol.9
, pp. 209-225
-
-
Little, M.1
Wells, C.2
-
26
-
-
1242273808
-
Amino acid substitution of arginine 80 in 17β-hydroxysteroid dehydrogenase type 3 and its effect on NADPH cofactor binding and oxidation/reduction kinetics
-
B.M. McKeever, B.K. Hawkins, and W.M. Geissler Amino acid substitution of arginine 80 in 17β-hydroxysteroid dehydrogenase type 3 and its effect on NADPH cofactor binding and oxidation/reduction kinetics Biochim. Biophys. Acta 1601 2002 29 37
-
(2002)
Biochim. Biophys. Acta
, vol.1601
, pp. 29-37
-
-
McKeever, B.M.1
Hawkins, B.K.2
Geissler, W.M.3
-
27
-
-
0031757587
-
Deleterious missense mutations and silent polymorphism in the human 17β-hydroxysteroid dehydrogenase 3 gene (HSD 17B3
-
N. Moghrabi, I.A. Hughes, A. Dunaif, and S. Andersson Deleterious missense mutations and silent polymorphism in the human 17β-hydroxysteroid dehydrogenase 3 gene (HSD 17B3 J. Clin. Endocrinol. Metab. 83 1998 2855 2860
-
(1998)
J. Clin. Endocrinol. Metab.
, vol.83
, pp. 2855-2860
-
-
Moghrabi, N.1
Hughes, I.A.2
Dunaif, A.3
Andersson, S.4
-
28
-
-
0036312418
-
Evidence that luteinising hormone receptor polymorphisms may contribute to male undermasculinisation
-
N.P. Mongan, I.A. Hughes, and H.N. Lim Evidence that luteinising hormone receptor polymorphisms may contribute to male undermasculinisation Eur. J. Endocrinol. 147 2002 103 107
-
(2002)
Eur. J. Endocrinol.
, vol.147
, pp. 103-107
-
-
Mongan, N.P.1
Hughes, I.A.2
Lim, H.N.3
-
30
-
-
0037022020
-
CAG repeat length in androgen receptor gene and reproductive variables in fertile and infertile men
-
E. Rajperts-De Meyts, H. Leffers, and J.H. Petersen CAG repeat length in androgen receptor gene and reproductive variables in fertile and infertile men Lancet 359 2002 44 46
-
(2002)
Lancet
, vol.359
, pp. 44-46
-
-
Rajperts-De Meyts, E.1
Leffers, H.2
Petersen, J.H.3
-
31
-
-
0036892164
-
Induction of reproductive tract developmental abnormalities in the male rat by lowering androgen production or action in combination with a low dose of diethylstilbestiol: Evidence for importance of the androgen-estrogen balance
-
A. Rivas, J.S. Fisher, C. McKinnell, N. Atanassova, and R.M. Sharpe Induction of reproductive tract developmental abnormalities in the male rat by lowering androgen production or action in combination with a low dose of diethylstilbestiol: evidence for importance of the androgen-estrogen balance Endocrinology 143 2002 4797 4808
-
(2002)
Endocrinology
, vol.143
, pp. 4797-4808
-
-
Rivas, A.1
Fisher, J.S.2
McKinnell, C.3
Atanassova, N.4
Sharpe, R.M.5
-
32
-
-
23744469802
-
Decrease in anogenital distance among male infants with prenatal phthalate exposure
-
S.H. Swan, K.M. Main, and F. Liu Decrease in anogenital distance among male infants with prenatal phthalate exposure Environ. Health Perspect. 2005 (Epub 1 June)
-
(2005)
Environ. Health Perspect.
-
-
Swan, S.H.1
Main, K.M.2
Liu, F.3
-
33
-
-
0033711033
-
Mutations of gonadotrophins and gonadotrophin receptors: Elucidating the physiology and pathophysiology of pituitary-gonadal function
-
A.P.N. Themmen, and I.T. Huhtaniemi Mutations of gonadotrophins and gonadotrophin receptors: elucidating the physiology and pathophysiology of pituitary-gonadal function Endocr. Rev. 21 2000 551 583
-
(2000)
Endocr. Rev.
, vol.21
, pp. 551-583
-
-
Themmen, A.P.N.1
Huhtaniemi, I.T.2
-
34
-
-
0026730788
-
The molecular genetics of steroid 5α-reductase 2 deficiency
-
A.E. Thigpen, D.L. Davis, and A. Milakovich The molecular genetics of steroid 5α-reductase 2 deficiency J. Clin. Invest. 90 1992 799 809
-
(1992)
J. Clin. Invest.
, vol.90
, pp. 799-809
-
-
Thigpen, A.E.1
Davis, D.L.2
Milakovich, A.3
-
35
-
-
85047683884
-
SRY and architectural gene regulation: The kinetic stability of a bent protein-DNA complex can regulate its transcriptional potency
-
E. Ukiyama, A. Jancso-Radek, and B. Li SRY and architectural gene regulation: the kinetic stability of a bent protein-DNA complex can regulate its transcriptional potency Mol. Endocrinol. 15 2001 363 377
-
(2001)
Mol. Endocrinol.
, vol.15
, pp. 363-377
-
-
Ukiyama, E.1
Jancso-Radek, A.2
Li, B.3
-
37
-
-
0037384830
-
The CAG repeat polymorphism within the androgen receptor gene and maleness
-
M. Zitzmann, and E. Nieschlag The CAG repeat polymorphism within the androgen receptor gene and maleness Int. J. Androl. 26 2003 76 83
-
(2003)
Int. J. Androl.
, vol.26
, pp. 76-83
-
-
Zitzmann, M.1
Nieschlag, E.2
|