-
1
-
-
0033994199
-
SRY, SOX9, and DAX1 expression patterns during human sex determination and gonadal development
-
Hanley N.A., Hagan D.M., Clement-Jones M., et al. SRY, SOX9, and DAX1 expression patterns during human sex determination and gonadal development. Mechanisms of Development 91 (2000) 403-407
-
(2000)
Mechanisms of Development
, vol.91
, pp. 403-407
-
-
Hanley, N.A.1
Hagan, D.M.2
Clement-Jones, M.3
-
2
-
-
0035992824
-
Genes essential for early events in gonadal development
-
Parker K.L., and Schimmer B.P. Genes essential for early events in gonadal development. Annals of Medicine 34 (2002) 171-178
-
(2002)
Annals of Medicine
, vol.34
, pp. 171-178
-
-
Parker, K.L.1
Schimmer, B.P.2
-
3
-
-
33846829951
-
Sex determination and gonadal development in mammals
-
Wilhelm D., Palmer S., and Koopman P. Sex determination and gonadal development in mammals. Physiological Reviews 87 (2007) 1-28
-
(2007)
Physiological Reviews
, vol.87
, pp. 1-28
-
-
Wilhelm, D.1
Palmer, S.2
Koopman, P.3
-
4
-
-
33745856805
-
Evaluating human embryonic germ cells: concord and conflict as pluripotent stem cells
-
Turnpenny L., Spalluto C.M., Perrett R.M., et al. Evaluating human embryonic germ cells: concord and conflict as pluripotent stem cells. Stem Cells 24 (2006) 212-220
-
(2006)
Stem Cells
, vol.24
, pp. 212-220
-
-
Turnpenny, L.1
Spalluto, C.M.2
Perrett, R.M.3
-
5
-
-
0344515655
-
AMH signaling: from receptor to target gene
-
Visser J.A. AMH signaling: from receptor to target gene. Molecular and Cellular Endocrinology 211 (2003) 65-73
-
(2003)
Molecular and Cellular Endocrinology
, vol.211
, pp. 65-73
-
-
Visser, J.A.1
-
6
-
-
34548557646
-
-
MIM *600957. http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?cmd=entry&id=600957.
-
-
-
-
7
-
-
34548556539
-
-
MIM *600956. http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?cmd=entry&id=600956.
-
-
-
-
8
-
-
34548587817
-
-
MIM #261550. http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?cmd=entry&id=261550.
-
-
-
-
9
-
-
21244498141
-
AMH and AMH receptor defects in persistent Mullerian duct syndrome
-
Josso N., Belville C., di Clemente N., et al. AMH and AMH receptor defects in persistent Mullerian duct syndrome. Human Reproduction Update 11 (2005) 351-356
-
(2005)
Human Reproduction Update
, vol.11
, pp. 351-356
-
-
Josso, N.1
Belville, C.2
di Clemente, N.3
-
11
-
-
34548554584
-
-
MIM *607306. http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=607306.
-
-
-
-
12
-
-
0016359646
-
Steroid 5alpha-reductase deficiency in man: an inherited form of male pseudohermaphroditism
-
Imperato-McGinley J., Guerrero L., Gautier T., et al. Steroid 5alpha-reductase deficiency in man: an inherited form of male pseudohermaphroditism. Science 186 (1974) 1213-1215
-
(1974)
Science
, vol.186
, pp. 1213-1215
-
-
Imperato-McGinley, J.1
Guerrero, L.2
Gautier, T.3
-
13
-
-
0037203519
-
Androgens and male physiology the syndrome of 5alpha-reductase-2 deficiency
-
Imperato-McGinley J., and Zhu Y.S. Androgens and male physiology the syndrome of 5alpha-reductase-2 deficiency. Molecular and Cellular Endocrinology 198 (2002) 51-59
-
(2002)
Molecular and Cellular Endocrinology
, vol.198
, pp. 51-59
-
-
Imperato-McGinley, J.1
Zhu, Y.S.2
-
14
-
-
0016684228
-
Dihydrotestosterone formation in cultured human fibroblasts. Comparison of cells from normal subjects and patients with familial incomplete male pseudohermaphroditism, Type 2
-
Wilson J.D. Dihydrotestosterone formation in cultured human fibroblasts. Comparison of cells from normal subjects and patients with familial incomplete male pseudohermaphroditism, Type 2. The Journal of Biological Chemistry 250 (1975) 3498-3504
-
(1975)
The Journal of Biological Chemistry
, vol.250
, pp. 3498-3504
-
-
Wilson, J.D.1
-
15
-
-
34548585885
-
-
MIM +152790. http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?cmd=entry&id=152790.
-
-
-
-
16
-
-
0033711033
-
Mutations of gonadotropins and gonadotropin receptors: elucidating the physiology and pathophysiology of pituitary-gonadal function
-
Themmen A.P.N., and Huhtaniemi I.T. Mutations of gonadotropins and gonadotropin receptors: elucidating the physiology and pathophysiology of pituitary-gonadal function. Endocrine Reviews 21 (2000) 551-583
-
(2000)
Endocrine Reviews
, vol.21
, pp. 551-583
-
-
Themmen, A.P.N.1
Huhtaniemi, I.T.2
-
17
-
-
18544386359
-
Steroidogenic factor 1: an essential mediator of endocrine development
-
Parker K.L., Rice D.A., Lala D.S., et al. Steroidogenic factor 1: an essential mediator of endocrine development. Recent Progress in Hormone Research 57 (2002) 19-36
-
(2002)
Recent Progress in Hormone Research
, vol.57
, pp. 19-36
-
-
Parker, K.L.1
Rice, D.A.2
Lala, D.S.3
-
18
-
-
34548579084
-
-
MIM +184757. http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?cmd=entry&id=184757.
-
-
-
-
19
-
-
0032990419
-
A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans
-
Achermann J.C., Ito M., Ito M., et al. A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans. Nature Genetics 22 (1999) 125-126
-
(1999)
Nature Genetics
, vol.22
, pp. 125-126
-
-
Achermann, J.C.1
Ito, M.2
Ito, M.3
-
20
-
-
33947505860
-
Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function
-
Lin L., Philibert P., Ferraz-de-Souza B., et al. Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function. The Journal of Clinical Endocrinology and Metabolism 92 (2007) 991-999
-
(2007)
The Journal of Clinical Endocrinology and Metabolism
, vol.92
, pp. 991-999
-
-
Lin, L.1
Philibert, P.2
Ferraz-de-Souza, B.3
-
21
-
-
0015953713
-
Testosterone formation and metabolism during male sexual differentiation in the human embryo
-
Siiteri P.K., and Wilson J.D. Testosterone formation and metabolism during male sexual differentiation in the human embryo. The Journal of Clinical Endocrinology and Metabolism 38 (1974) 113-125
-
(1974)
The Journal of Clinical Endocrinology and Metabolism
, vol.38
, pp. 113-125
-
-
Siiteri, P.K.1
Wilson, J.D.2
-
22
-
-
33645511061
-
In humans, early cortisol biosynthesis provides a mechanism to safeguard female sexual development
-
Goto M., Piper H.K., Marcos J., et al. In humans, early cortisol biosynthesis provides a mechanism to safeguard female sexual development. The Journal of Clinical Investigation 116 (2006) 953-960
-
(2006)
The Journal of Clinical Investigation
, vol.116
, pp. 953-960
-
-
Goto, M.1
Piper, H.K.2
Marcos, J.3
-
24
-
-
0033875535
-
Uroplakin and androgen receptor expression in the human fetal genital tract: insights into the development of the vagina
-
Shapiro E., Huang H.Y., and Wu X.R. Uroplakin and androgen receptor expression in the human fetal genital tract: insights into the development of the vagina. The Journal of Urology 164 (2000) 1048-1051
-
(2000)
The Journal of Urology
, vol.164
, pp. 1048-1051
-
-
Shapiro, E.1
Huang, H.Y.2
Wu, X.R.3
-
26
-
-
33846214395
-
Congenital adrenal hyperplasia and P450 oxidoreductase deficiency
-
Krone N., Dhir V., Ivison H.E., et al. Congenital adrenal hyperplasia and P450 oxidoreductase deficiency. Clinical Endocrinology 66 (2007) 162-172
-
(2007)
Clinical Endocrinology
, vol.66
, pp. 162-172
-
-
Krone, N.1
Dhir, V.2
Ivison, H.E.3
-
27
-
-
20444462824
-
Congenital adrenal hyperplasia
-
Merke D.P., and Bornstein S.R. Congenital adrenal hyperplasia. Lancet 365 (2005) 2125-2136
-
(2005)
Lancet
, vol.365
, pp. 2125-2136
-
-
Merke, D.P.1
Bornstein, S.R.2
-
28
-
-
0034454269
-
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
-
White P.C., and Speiser P.W. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocrine Reviews 21 (2000) 245-291
-
(2000)
Endocrine Reviews
, vol.21
, pp. 245-291
-
-
White, P.C.1
Speiser, P.W.2
-
29
-
-
34548564605
-
-
MIM +201910. http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?cmd=entry&id=201910.
-
-
-
-
30
-
-
0021691461
-
Prenatal treatment of congenital adrenal hyperplasia resulting from 21-hydroxylase deficiency
-
David M., and Forest M.G. Prenatal treatment of congenital adrenal hyperplasia resulting from 21-hydroxylase deficiency. The Journal of Pediatrics 105 (1984) 799-803
-
(1984)
The Journal of Pediatrics
, vol.105
, pp. 799-803
-
-
David, M.1
Forest, M.G.2
-
31
-
-
34247499906
-
Prenatal diagnosis and treatment of congenital adrenal hyperplasia owing to 21-hydroxylase deficiency
-
Nimkarn S., and New M.I. Prenatal diagnosis and treatment of congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. Nature Clinical Practice. Endocrinology & Metabolism 3 (2007) 405-413
-
(2007)
Nature Clinical Practice. Endocrinology & Metabolism
, vol.3
, pp. 405-413
-
-
Nimkarn, S.1
New, M.I.2
-
32
-
-
34548594096
-
-
MIM #202110. http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?cmd=entry&id=202110.
-
-
-
-
33
-
-
0023943706
-
Structural characterization of normal and mutant human steroid 17alpha-hydroxylase genes: molecular basis of one example of combined 17alpha-hydroxylase/17,20 lyase deficiency
-
Kagimoto M., Winter J.S., Kagimoto K., et al. Structural characterization of normal and mutant human steroid 17alpha-hydroxylase genes: molecular basis of one example of combined 17alpha-hydroxylase/17,20 lyase deficiency. Molecular Endocrinology 2 (1988) 564-570
-
(1988)
Molecular Endocrinology
, vol.2
, pp. 564-570
-
-
Kagimoto, M.1
Winter, J.S.2
Kagimoto, K.3
-
34
-
-
0035032081
-
The genetics, pathophysiology, and management of human deficiencies of P450c17
-
Auchus R.J. The genetics, pathophysiology, and management of human deficiencies of P450c17. Endocrinology and Metabolism Clinics of North America 30 (2001) 101-119
-
(2001)
Endocrinology and Metabolism Clinics of North America
, vol.30
, pp. 101-119
-
-
Auchus, R.J.1
-
35
-
-
0022374725
-
Male pseudohermaphroditism due to multiple defects in steroid-biosynthetic microsomal mixed-function oxidases. A new variant of congenital adrenal hyperplasia
-
Peterson R.E., Imperato-McGinley J., Gautier T., et al. Male pseudohermaphroditism due to multiple defects in steroid-biosynthetic microsomal mixed-function oxidases. A new variant of congenital adrenal hyperplasia. The New England Journal of Medicine 313 (1985) 1182-1191
-
(1985)
The New England Journal of Medicine
, vol.313
, pp. 1182-1191
-
-
Peterson, R.E.1
Imperato-McGinley, J.2
Gautier, T.3
-
36
-
-
0032996258
-
A male patient presenting with major clinical symptoms of glucocorticoid deficiency and skeletal dysplasia, showing a steroid pattern compatible with 17alpha-hydroxylase/17,20-lyase deficiency, but without obvious CYP17 gene mutations
-
Adachi M., Tachibana K., Asakura Y., et al. A male patient presenting with major clinical symptoms of glucocorticoid deficiency and skeletal dysplasia, showing a steroid pattern compatible with 17alpha-hydroxylase/17,20-lyase deficiency, but without obvious CYP17 gene mutations. Endocrine Journal 46 (1999) 285-292
-
(1999)
Endocrine Journal
, vol.46
, pp. 285-292
-
-
Adachi, M.1
Tachibana, K.2
Asakura, Y.3
-
37
-
-
0037097340
-
Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia
-
Kelley R.I., Kratz L.E., Glaser R.L., et al. Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia. American Journal of Medical Genetics 110 (2002) 95-102
-
(2002)
American Journal of Medical Genetics
, vol.110
, pp. 95-102
-
-
Kelley, R.I.1
Kratz, L.E.2
Glaser, R.L.3
-
38
-
-
3042613405
-
Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study
-
Arlt W., Walker E.A., Draper N., et al. Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study. Lancet 363 (2004) 2128-2135
-
(2004)
Lancet
, vol.363
, pp. 2128-2135
-
-
Arlt, W.1
Walker, E.A.2
Draper, N.3
-
39
-
-
10744224515
-
Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome
-
Fluck C.E., Tajima T., Pandey A.V., et al. Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nature Genetics 36 (2004) 228-230
-
(2004)
Nature Genetics
, vol.36
, pp. 228-230
-
-
Fluck, C.E.1
Tajima, T.2
Pandey, A.V.3
-
40
-
-
34548557645
-
-
MIM #201750. http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?cmd=entry&id=201750.
-
-
-
-
41
-
-
34547465321
-
Differential Inhibition of CYP17A1 and CYP21A2 Activities by the P450 Oxidoreductase Mutant A287P
-
[epub ahead of print]
-
Dhir V., Ivison H.E., Krone N., et al. Differential Inhibition of CYP17A1 and CYP21A2 Activities by the P450 Oxidoreductase Mutant A287P. Molecular Endocrinology (2007 May 15) [epub ahead of print]
-
(2007)
Molecular Endocrinology
-
-
Dhir, V.1
Ivison, H.E.2
Krone, N.3
-
42
-
-
34548577772
-
-
MIM #207410. http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?cmd=entry&id=207410.
-
-
-
-
43
-
-
0016736856
-
Trapezoidocephaly, midfacial hypoplasia and cartilage abnormalities with multiple synostoses and skeletal fractures
-
Antley R., and Bixler D. Trapezoidocephaly, midfacial hypoplasia and cartilage abnormalities with multiple synostoses and skeletal fractures. Birth Defects Original Article Series 11 (1975) 397-401
-
(1975)
Birth Defects Original Article Series
, vol.11
, pp. 397-401
-
-
Antley, R.1
Bixler, D.2
-
44
-
-
0037317265
-
5alpha-androstane-3alpha,17beta-diol is formed in tammar wallaby pouch young testes by a pathway involving 5alpha-pregnane-3alpha,17alpha-diol-20-one as a key intermediate
-
Wilson J.D., Auchus R.J., Leihy M.W., et al. 5alpha-androstane-3alpha,17beta-diol is formed in tammar wallaby pouch young testes by a pathway involving 5alpha-pregnane-3alpha,17alpha-diol-20-one as a key intermediate. Endocrinology 144 (2003) 575-580
-
(2003)
Endocrinology
, vol.144
, pp. 575-580
-
-
Wilson, J.D.1
Auchus, R.J.2
Leihy, M.W.3
-
45
-
-
3142530379
-
Steroid 5alpha-reductase 1 promotes 5alpha-androstane-3alpha,17beta-diol synthesis in immature mouse testes by two pathways
-
Mahendroo M., Wilson J.D., Richardson J.A., et al. Steroid 5alpha-reductase 1 promotes 5alpha-androstane-3alpha,17beta-diol synthesis in immature mouse testes by two pathways. Molecular and Cellular Endocrinology 222 (2004) 113-120
-
(2004)
Molecular and Cellular Endocrinology
, vol.222
, pp. 113-120
-
-
Mahendroo, M.1
Wilson, J.D.2
Richardson, J.A.3
|