-
1
-
-
0000123102
-
Addison's disease due to congenital adrenal hypoplasia of the adrenals in an infant aged 33 days
-
H. Sikl Addison's disease due to congenital adrenal hypoplasia of the adrenals in an infant aged 33 days J Pathol Bacteriol 60 1948 323 326
-
(1948)
J Pathol Bacteriol
, vol.60
, pp. 323-326
-
-
Sikl, H.1
-
2
-
-
0028598360
-
Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism
-
F. Muscatelli, T.M. Strom, A.P. Walker, and et al. Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism Nature 372 1994 672 676
-
(1994)
Nature
, vol.372
, pp. 672-676
-
-
Muscatelli, F.1
Strom, T.M.2
Walker, A.P.3
-
3
-
-
0027957103
-
A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal
-
B. Bardoni, E. Zanaria, S. Guioli, and et al. A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal Nat Genet 7 4 1994 497 501
-
(1994)
Nat Genet
, vol.7
, Issue.4
, pp. 497-501
-
-
Bardoni, B.1
Zanaria, E.2
Guioli, S.3
-
4
-
-
0028558750
-
An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita
-
E. Zanaria, F. Muscatelli, B. Bardoni, and et al. An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita Nature 372 1994 635 641
-
(1994)
Nature
, vol.372
, pp. 635-641
-
-
Zanaria, E.1
Muscatelli, F.2
Bardoni, B.3
-
5
-
-
57449090890
-
The structure of corepressor Dax-1 bound to its target nuclear receptor LRH-1
-
E.P. Sablin, A. Woods, I.N. Krylova, and et al. The structure of corepressor Dax-1 bound to its target nuclear receptor LRH-1 Proc Natl Acad Sci USA 105 2008 18390 18395
-
(2008)
Proc Natl Acad Sci USA
, vol.105
, pp. 18390-18395
-
-
Sablin, E.P.1
Woods, A.2
Krylova, I.N.3
-
6
-
-
0031020234
-
DAX-1 inhibits SF-1-mediated transactivation via a carboxy-terminal domain that is deleted in adrenal hypoplasia congenita
-
M. Ito, R. Yu, and J.L. Jameson DAX-1 inhibits SF-1-mediated transactivation via a carboxy-terminal domain that is deleted in adrenal hypoplasia congenita Mol Cell Biol 17 1997 1476 1483
-
(1997)
Mol Cell Biol
, vol.17
, pp. 1476-1483
-
-
Ito, M.1
Yu, R.2
Jameson, J.L.3
-
7
-
-
0031796372
-
Role of Ahch in gonadal development and gametogenesis
-
R.N. Yu, M. Ito, T.L. Saunders, and et al. Role of Ahch in gonadal development and gametogenesis Nat Genet 20 1998 Dec 353 357
-
(1998)
Nat Genet
, vol.20
, pp. 353-357
-
-
Yu, R.N.1
Ito, M.2
Saunders, T.L.3
-
8
-
-
80052503783
-
Evidence of adrenal failure in aging Dax1-deficient mice
-
J.O. Scheys, J.H. Heaton, and G.D. Hammer Evidence of adrenal failure in aging Dax1-deficient mice Endocrinology 152 2011 3430 3439
-
(2011)
Endocrinology
, vol.152
, pp. 3430-3439
-
-
Scheys, J.O.1
Heaton, J.H.2
Hammer, G.D.3
-
9
-
-
0043268895
-
DAX-1, an unusual orphan receptor at the crossroads of steroidogenic function and sexual differentiation
-
E. Lalli, and P. Sassone-Corsi DAX-1, an unusual orphan receptor at the crossroads of steroidogenic function and sexual differentiation Mol Endocrinol 17 2003 1445 1453
-
(2003)
Mol Endocrinol
, vol.17
, pp. 1445-1453
-
-
Lalli, E.1
Sassone-Corsi, P.2
-
10
-
-
59749106493
-
CBP/p300-interacting transactivator, with Glu/Asp-rich C-terminal domain, 2, and pre-B-cell leukemia transcription factor 1 in human adrenal development and disease
-
B. Ferraz-de-Souza, F. Martin, D. Mallet, and et al. CBP/p300-interacting transactivator, with Glu/Asp-rich C-terminal domain, 2, and pre-B-cell leukemia transcription factor 1 in human adrenal development and disease J Clin Endocrinol Metab 94 2009 678 683
-
(2009)
J Clin Endocrinol Metab
, vol.94
, pp. 678-683
-
-
Ferraz-de-Souza, B.1
Martin, F.2
Mallet, D.3
-
11
-
-
63049123701
-
Dax-1 and steroid receptor RNA activator (SRA) function as transcriptional coactivators for steroidogenic factor 1 in steroidogenesis
-
B. Xu, W.H. Yang, I. Gerin, and et al. Dax-1 and steroid receptor RNA activator (SRA) function as transcriptional coactivators for steroidogenic factor 1 in steroidogenesis Mol Cell Biol 29 2009 1719 1734
-
(2009)
Mol Cell Biol
, vol.29
, pp. 1719-1734
-
-
Xu, B.1
Yang, W.H.2
Gerin, I.3
-
12
-
-
0032977119
-
Clinical and functional effects of mutations in the DAX-1 gene in patients with adrenal hypoplasia congenita
-
A.T. Reutens, J.C. Achermann, M. Ito, and et al. Clinical and functional effects of mutations in the DAX-1 gene in patients with adrenal hypoplasia congenita J Clin Endocrinol Metab 84 1999 504 511
-
(1999)
J Clin Endocrinol Metab
, vol.84
, pp. 504-511
-
-
Reutens, A.T.1
Achermann, J.C.2
Ito, M.3
-
13
-
-
0033305217
-
X-linked adrenal hypoplasia congenita: A mutation in DAX1 expands the phenotypic spectrum in males and females
-
S.B. Seminara, J.C. Achermann, M. Genel, and et al. X-linked adrenal hypoplasia congenita: a mutation in DAX1 expands the phenotypic spectrum in males and females J Clin Endocrinol Metab 84 1999 4501 4509
-
(1999)
J Clin Endocrinol Metab
, vol.84
, pp. 4501-4509
-
-
Seminara, S.B.1
Achermann, J.C.2
Genel, M.3
-
14
-
-
33744523194
-
DAX1 and X-linked adrenal hypoplasia congenita: Clinical and molecular analysis in five patients
-
G. Mantovani, E. De Menis, G. Borretta, and et al. DAX1 and X-linked adrenal hypoplasia congenita: clinical and molecular analysis in five patients Eur J Endocrinol 154 2006 685 689
-
(2006)
Eur J Endocrinol
, vol.154
, pp. 685-689
-
-
Mantovani, G.1
De Menis, E.2
Borretta, G.3
-
15
-
-
0034789172
-
Variable presentation of X-linked adrenal hypoplasia congenita
-
E. Wiltshire, J. Couper, C. Rodda, and et al. Variable presentation of X-linked adrenal hypoplasia congenita J Pediatr Endocrinol Metab 14 2001 1093 1096
-
(2001)
J Pediatr Endocrinol Metab
, vol.14
, pp. 1093-1096
-
-
Wiltshire, E.1
Couper, J.2
Rodda, C.3
-
16
-
-
77749295082
-
Clinical and genetic heterogeneity of congenital adrenal hypoplasia due to NR0B1 gene mutations
-
Z. Landau, A. Hanukoglu, J. Sack, and et al. Clinical and genetic heterogeneity of congenital adrenal hypoplasia due to NR0B1 gene mutations Clin Endocrinol (Oxf) 72 2010 448 454
-
(2010)
Clin Endocrinol (Oxf)
, vol.72
, pp. 448-454
-
-
Landau, Z.1
Hanukoglu, A.2
Sack, J.3
-
17
-
-
0033305636
-
Mutational analysis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delay
-
J.C. Achermann, W.X. Gu, T.J. Kotlar, and et al. Mutational analysis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delay J Clin Endocrinol Metab 84 1999 Dec 4497 4500
-
(1999)
J Clin Endocrinol Metab
, vol.84
, pp. 4497-4500
-
-
Achermann, J.C.1
Gu, W.X.2
Kotlar, T.J.3
-
18
-
-
85047684980
-
Adrenocorticotropin-dependent precocious puberty of testicular origin in a boy with X-linked adrenal hypoplasia congenita due to a novel mutation in the DAX1 gene
-
S. Domenice, A.C. Latronico, V.N. Brito, and et al. Adrenocorticotropin-dependent precocious puberty of testicular origin in a boy with X-linked adrenal hypoplasia congenita due to a novel mutation in the DAX1 gene J Clin Endocrinol Metab 86 2001 4068 4071
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 4068-4071
-
-
Domenice, S.1
Latronico, A.C.2
Brito, V.N.3
-
19
-
-
0033960595
-
A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism
-
A. Tabarin, J.C. Achermann, D. Recan, and et al. A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism J Clin Invest 105 2000 321 328
-
(2000)
J Clin Invest
, vol.105
, pp. 321-328
-
-
Tabarin, A.1
Achermann, J.C.2
Recan, D.3
-
20
-
-
0037238501
-
An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation leading to a mild form of X-linked adrenal hypoplasia congenita
-
G. Ozisik, G. Mantovani, J.C. Achermann, and et al. An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation leading to a mild form of X-linked adrenal hypoplasia congenita J Clin Endocrinol Metab 88 2003 417 423
-
(2003)
J Clin Endocrinol Metab
, vol.88
, pp. 417-423
-
-
Ozisik, G.1
Mantovani, G.2
Achermann, J.C.3
-
21
-
-
0036146296
-
Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita
-
G. Mantovani, G. Ozisik, J.C. Achermann, and et al. Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita J Clin Endocrinol Metab 87 2002 44 48
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 44-48
-
-
Mantovani, G.1
Ozisik, G.2
Achermann, J.C.3
-
22
-
-
78049523188
-
Puberty, stress and sudden death
-
M. Guclu, L. Lin, E. Erturk, and et al. Puberty, stress and sudden death Lancet 376 2010 1512
-
(2010)
Lancet
, vol.376
, pp. 1512
-
-
Guclu, M.1
Lin, L.2
Erturk, E.3
-
23
-
-
84875156910
-
A man with a DAX1/NR0B1 mutation, normal puberty, and an intact hypothalamic-pituitary-gonadal axis but deteriorating oligospermia during long-term follow-up
-
M.L. Raffin-Sanson, B. Oudet, S. Salenave, and et al. A man with a DAX1/NR0B1 mutation, normal puberty, and an intact hypothalamic-pituitary-gonadal axis but deteriorating oligospermia during long-term follow-up Eur J Endocrinol 168 2013 K45 K50
-
(2013)
Eur J Endocrinol
, vol.168
, pp. K45-K50
-
-
Raffin-Sanson, M.L.1
Oudet, B.2
Salenave, S.3
-
24
-
-
27644551166
-
Somatic mutational analysis of DAX1 in testes from men with idiopathic azoospermia
-
G. Mantovani, M. Mancini, G. Gazzano, and et al. Somatic mutational analysis of DAX1 in testes from men with idiopathic azoospermia Fertil Steril 84 2005 1542 1544
-
(2005)
Fertil Steril
, vol.84
, pp. 1542-1544
-
-
Mantovani, G.1
Mancini, M.2
Gazzano, G.3
-
25
-
-
49649085557
-
Skewed X inactivation is associated with phenotype in a female with adrenal hypoplasia congenita
-
M.G. Shaikh, L. Boyes, H. Kingston, and et al. Skewed X inactivation is associated with phenotype in a female with adrenal hypoplasia congenita J Med Genet 45 2008 e1
-
(2008)
J Med Genet
, vol.45
, pp. e1
-
-
Shaikh, M.G.1
Boyes, L.2
Kingston, H.3
-
26
-
-
0033635591
-
Presymptomatic diagnosis of X-linked adrenal hypoplasia congenita by analysis of DAX1
-
J.C. Achermann, B.L. Silverman, R.L. Habiby, and et al. Presymptomatic diagnosis of X-linked adrenal hypoplasia congenita by analysis of DAX1 J Pediatr 137 2000 878 881
-
(2000)
J Pediatr
, vol.137
, pp. 878-881
-
-
Achermann, J.C.1
Silverman, B.L.2
Habiby, R.L.3
-
27
-
-
33747644339
-
Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: Ten years' experience
-
L. Lin, W.X. Gu, G. Ozisik, and et al. Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience J Clin Endocrinol Metab 91 2006 3048 3054
-
(2006)
J Clin Endocrinol Metab
, vol.91
, pp. 3048-3054
-
-
Lin, L.1
Gu, W.X.2
Ozisik, G.3
-
28
-
-
0034924861
-
Missense mutations cluster within the carboxyl-terminal region of DAX-1 and impair transcriptional repression
-
J.C. Achermann, M. Ito, B.L. Silverman, and et al. Missense mutations cluster within the carboxyl-terminal region of DAX-1 and impair transcriptional repression J Clin Endocrinol Metab 86 2001 3171 3175
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 3171-3175
-
-
Achermann, J.C.1
Ito, M.2
Silverman, B.L.3
-
29
-
-
17344363194
-
DAX1 mutations map to putative structural domains in a deduced three-dimensional model
-
Y.H. Zhang, W. Guo, R.L. Wagner, and et al. DAX1 mutations map to putative structural domains in a deduced three-dimensional model Am J Hum Genet 62 1998 855 864
-
(1998)
Am J Hum Genet
, vol.62
, pp. 855-864
-
-
Zhang, Y.H.1
Guo, W.2
Wagner, R.L.3
-
30
-
-
33745609818
-
A familial missense mutation in the hinge region of DAX1 associated with late-onset AHC in a prepubertal female
-
P. Bernard, L. Ludbrook, G. Queipo, and et al. A familial missense mutation in the hinge region of DAX1 associated with late-onset AHC in a prepubertal female Mol Genet Metab 88 2006 272 279
-
(2006)
Mol Genet Metab
, vol.88
, pp. 272-279
-
-
Bernard, P.1
Ludbrook, L.2
Queipo, G.3
-
31
-
-
79951566883
-
Birth after TESE-ICSI in a man with hypogonadotropic hypogonadism and congenital adrenal hypoplasia linked to a DAX-1 (NR0B1) mutation
-
C. Frapsauce, C. Ravel, M. Legendre, and et al. Birth after TESE-ICSI in a man with hypogonadotropic hypogonadism and congenital adrenal hypoplasia linked to a DAX-1 (NR0B1) mutation Hum Reprod 26 2001 724 728
-
(2001)
Hum Reprod
, vol.26
, pp. 724-728
-
-
Frapsauce, C.1
Ravel, C.2
Legendre, M.3
-
32
-
-
0025934625
-
A shared promoter element regulates the expression of three steroidogenic enzymes
-
D.A. Rice, A.R. Mouw, A.M. Bogerd, and et al. A shared promoter element regulates the expression of three steroidogenic enzymes Mol Endocrinol 5 1991 1552 1561
-
(1991)
Mol Endocrinol
, vol.5
, pp. 1552-1561
-
-
Rice, D.A.1
Mouw, A.R.2
Bogerd, A.M.3
-
33
-
-
0026640265
-
A common trans-acting factor, Ad4-binding protein, to the promoters of steroidogenic P-450s
-
K. Morohashi, S. Honda, Y. Inomata, and et al. A common trans-acting factor, Ad4-binding protein, to the promoters of steroidogenic P-450s J Biol Chem 267 1991 17913 17919
-
(1991)
J Biol Chem
, vol.267
, pp. 17913-17919
-
-
Morohashi, K.1
Honda, S.2
Inomata, Y.3
-
34
-
-
0028303959
-
A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation
-
X. Luo, Y. Ikeda, and K.L. Parker A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation Cell 77 1994 481 490
-
(1994)
Cell
, vol.77
, pp. 481-490
-
-
Luo, X.1
Ikeda, Y.2
Parker, K.L.3
-
35
-
-
0034644467
-
A naturally occurring steroidogenic factor-1 mutation exhibits differential binding and activation of target genes
-
M. Ito, J.C. Achermann, and J.L. Jameson A naturally occurring steroidogenic factor-1 mutation exhibits differential binding and activation of target genes J Biol Chem 275 2000 31708 31714
-
(2000)
J Biol Chem
, vol.275
, pp. 31708-31714
-
-
Ito, M.1
Achermann, J.C.2
Jameson, J.L.3
-
36
-
-
0033120086
-
Phosphorylation of the nuclear receptor SF-1 modulates cofactor recruitment: Integration of hormone signaling in reproduction and stress
-
G.D. Hammer, I. Krylova, Y. Zhang, and et al. Phosphorylation of the nuclear receptor SF-1 modulates cofactor recruitment: integration of hormone signaling in reproduction and stress Mol Cell 3 1999 521 526
-
(1999)
Mol Cell
, vol.3
, pp. 521-526
-
-
Hammer, G.D.1
Krylova, I.2
Zhang, Y.3
-
37
-
-
79961242786
-
Eliminating SF-1 (NR5A1) sumoylation in vivo results in ectopic hedgehog signaling and disruption of endocrine development
-
F.Y. Lee, E.J. Faivre, M. Suzawa, and et al. Eliminating SF-1 (NR5A1) sumoylation in vivo results in ectopic hedgehog signaling and disruption of endocrine development Dev Cell 21 2011 315 327
-
(2011)
Dev Cell
, vol.21
, pp. 315-327
-
-
Lee, F.Y.1
Faivre, E.J.2
Suzawa, M.3
-
38
-
-
84908065769
-
The signaling phospholipid PIP3 creates a new interaction surface on the nuclear receptor SF-1
-
R.D. Blind, E.P. Sablin, K.M. Kuchenbecker, and et al. The signaling phospholipid PIP3 creates a new interaction surface on the nuclear receptor SF-1 Proc Natl Acad Sci USA 111 2014 15054 15059
-
(2014)
Proc Natl Acad Sci USA
, vol.111
, pp. 15054-15059
-
-
Blind, R.D.1
Sablin, E.P.2
Kuchenbecker, K.M.3
-
39
-
-
0029123832
-
Developmental defects of the ventromedial hypothalamic nucleus and pituitary gonadotroph in the Ftz-F1 disrupted mice
-
K. Shinoda, H. Lei, H. Yoshii, and et al. Developmental defects of the ventromedial hypothalamic nucleus and pituitary gonadotroph in the Ftz-F1 disrupted mice Dev Dyn 204 1995 22 29
-
(1995)
Dev Dyn
, vol.204
, pp. 22-29
-
-
Shinoda, K.1
Lei, H.2
Yoshii, H.3
-
40
-
-
0036153668
-
Knockout mice lacking steroidogenic factor 1 are a novel genetic model of hypothalamic obesity
-
G. Majdic, M. Young, E. Gomez-Sanchez, and et al. Knockout mice lacking steroidogenic factor 1 are a novel genetic model of hypothalamic obesity Endocrinology 143 2002 607 614
-
(2002)
Endocrinology
, vol.143
, pp. 607-614
-
-
Majdic, G.1
Young, M.2
Gomez-Sanchez, E.3
-
41
-
-
0034687721
-
Haploinsufficiency of steroidogenic factor-1 in mice disrupts adrenal development leading to an impaired stress response
-
M.L. Bland, C.A. Jamieson, S.F. Akana, and et al. Haploinsufficiency of steroidogenic factor-1 in mice disrupts adrenal development leading to an impaired stress response Proc Natl Acad Sci USA 97 2000 14488 14493
-
(2000)
Proc Natl Acad Sci USA
, vol.97
, pp. 14488-14493
-
-
Bland, M.L.1
Jamieson, C.A.2
Akana, S.F.3
-
42
-
-
56749136435
-
Impaired follicle development and infertility in female mice lacking steroidogenic factor 1 in ovarian granulosa cells
-
C. Pelusi, Y. Ikeda, M. Zubair, and et al. Impaired follicle development and infertility in female mice lacking steroidogenic factor 1 in ovarian granulosa cells Biol Reprod 79 2008 1074 1083
-
(2008)
Biol Reprod
, vol.79
, pp. 1074-1083
-
-
Pelusi, C.1
Ikeda, Y.2
Zubair, M.3
-
43
-
-
79954572300
-
ChIP-on-chip analysis reveals angiopoietin 2 (Ang2, ANGPT2) as a novel target of steroidogenic factor-1 (SF-1, NR5A1) in the human adrenal gland
-
B. Ferraz-de-Souza, L. Lin, S. Shah, and et al. ChIP-on-chip analysis reveals angiopoietin 2 (Ang2, ANGPT2) as a novel target of steroidogenic factor-1 (SF-1, NR5A1) in the human adrenal gland FASEB J 25 2001 1166 1175
-
(2001)
FASEB J
, vol.25
, pp. 1166-1175
-
-
Ferraz-de-Souza, B.1
Lin, L.2
Shah, S.3
-
44
-
-
79953837350
-
Sterol O-acyltransferase 1 (SOAT1, ACAT) is a novel target of steroidogenic factor-1 (SF-1, NR5A1, Ad4BP) in the human adrenal
-
B. Ferraz-de-Souza, R.E. Hudson-Davies, L. Lin, and et al. Sterol O-acyltransferase 1 (SOAT1, ACAT) is a novel target of steroidogenic factor-1 (SF-1, NR5A1, Ad4BP) in the human adrenal J Clin Endocrinol Metab 96 2011 E663 E668
-
(2011)
J Clin Endocrinol Metab
, vol.96
, pp. E663-E668
-
-
Ferraz-de-Souza, B.1
Hudson-Davies, R.E.2
Lin, L.3
-
45
-
-
84898621885
-
Glycolytic genes are targets of the nuclear receptor Ad4BP/SF-1
-
T. Baba, H. Otake, T. Sato, and et al. Glycolytic genes are targets of the nuclear receptor Ad4BP/SF-1 Nat Commun 5 2014 3634
-
(2014)
Nat Commun
, vol.5
, pp. 3634
-
-
Baba, T.1
Otake, H.2
Sato, T.3
-
46
-
-
84876079350
-
Beyond steroidogenesis: Novel target genes for SF-1 discovered by genomics
-
E. Lalli, M. Doghman, P. Latre de Late, and et al. Beyond steroidogenesis: novel target genes for SF-1 discovered by genomics Mol Cell Endocrinol 371 2013 154 159
-
(2013)
Mol Cell Endocrinol
, vol.371
, pp. 154-159
-
-
Lalli, E.1
Doghman, M.2
Latre De Late, P.3
-
47
-
-
0032990419
-
A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans
-
J.C. Achermann, M. Ito, M. Ito, and et al. A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans Nat Genet 22 1999 125 126
-
(1999)
Nat Genet
, vol.22
, pp. 125-126
-
-
Achermann, J.C.1
Ito, M.2
Ito, M.3
-
48
-
-
0036277895
-
Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner
-
J.C. Achermann, G. Ozisik, M. Ito, and et al. Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner J Clin Endocrinol Metab 87 2002 1829 1833
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 1829-1833
-
-
Achermann, J.C.1
Ozisik, G.2
Ito, M.3
-
49
-
-
0033623571
-
Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and adrenocortical insufficiency
-
A. Biason-Lauber, and E.J. Schoenle Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and adrenocortical insufficiency Am J Hum Genet 67 2000 1563 1568
-
(2000)
Am J Hum Genet
, vol.67
, pp. 1563-1568
-
-
Biason-Lauber, A.1
Schoenle, E.J.2
-
50
-
-
1942505197
-
A microdeletion in the ligand binding domain of human steroidogenic factor 1 causes XY sex reversal without adrenal insufficiency
-
R.V. Correa, S. Domenice, N.C. Bingham, and et al. A microdeletion in the ligand binding domain of human steroidogenic factor 1 causes XY sex reversal without adrenal insufficiency J Clin Endocrinol Metab 89 2004 1767 1772
-
(2004)
J Clin Endocrinol Metab
, vol.89
, pp. 1767-1772
-
-
Correa, R.V.1
Domenice, S.2
Bingham, N.C.3
-
51
-
-
33947505860
-
Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function
-
L. Lin, P. Philibert, and B. Ferraz-de-Souza Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function J Clin Endocrinol Metab 92 2007 991 999
-
(2007)
J Clin Endocrinol Metab
, vol.92
, pp. 991-999
-
-
Lin, L.1
Philibert, P.2
Ferraz-de-Souza, B.3
-
52
-
-
38149046500
-
Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency
-
B. Kohler, L. Lin, B. Ferraz-de-Souza, and et al. Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency Hum Mutat 29 2008 59 64
-
(2008)
Hum Mutat
, vol.29
, pp. 59-64
-
-
Kohler, B.1
Lin, L.2
Ferraz-de-Souza, B.3
-
53
-
-
80054789767
-
Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46,XY disorders of sex development (DSD) including hypospadias
-
S. Allali, J.-B. Muller, R. Brauner, and et al. Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46,XY disorders of sex development (DSD) including hypospadias PLoS ONE 6 2011 e24117
-
(2011)
PLoS ONE
, vol.6
, pp. e24117
-
-
Allali, S.1
Muller, J.-B.2
Brauner, R.3
-
54
-
-
34547758544
-
Heterozygous mutation of steroidogenic factor-1 in 46,XY subjects may mimic partial androgen insensitivity syndrome
-
R. Coutant, D. Mallet, N. Lahlou, and et al. Heterozygous mutation of steroidogenic factor-1 in 46,XY subjects may mimic partial androgen insensitivity syndrome J Clin Endocrinol Metab 92 2007 2868 2873
-
(2007)
J Clin Endocrinol Metab
, vol.92
, pp. 2868-2873
-
-
Coutant, R.1
Mallet, D.2
Lahlou, N.3
-
55
-
-
84875178951
-
A novel NR5A1 variant in an infant with elevated testosterone from an Australasian cohort of 46,XY patients with disorders of sex development
-
J.Y. Wu, I.N. McGown, L. Lin, and et al. A novel NR5A1 variant in an infant with elevated testosterone from an Australasian cohort of 46,XY patients with disorders of sex development Clin Endocrinol (Oxf) 78 2013 545 550
-
(2013)
Clin Endocrinol (Oxf)
, vol.78
, pp. 545-550
-
-
Wu, J.Y.1
McGown, I.N.2
Lin, L.3
-
56
-
-
84856112780
-
Pubertal androgenization and gonadal histology in two 46,XY adolescents with SF-1 mutations and predominantly female phenotype at birth
-
M. Cools, P. Hoebeke, K.P. Wolffenbuttel, and et al. Pubertal androgenization and gonadal histology in two 46,XY adolescents with SF-1 mutations and predominantly female phenotype at birth Eur J Endocrinol 166 2012 341 346
-
(2012)
Eur J Endocrinol
, vol.166
, pp. 341-346
-
-
Cools, M.1
Hoebeke, P.2
Wolffenbuttel, K.P.3
-
57
-
-
84862752011
-
Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations
-
S. Tantawy, L. Lin, I. Akkurt, and et al. Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations Eur J Endocrinol 167 2012 125 130
-
(2012)
Eur J Endocrinol
, vol.167
, pp. 125-130
-
-
Tantawy, S.1
Lin, L.2
Akkurt, I.3
-
58
-
-
84899733381
-
Testicular differentiation factor SF-1 is required for human spleen development
-
D. Zangen, Y. Kaufman, E. Banne, and et al. Testicular differentiation factor SF-1 is required for human spleen development J Clin Invest 124 2014 2071 2075
-
(2014)
J Clin Invest
, vol.124
, pp. 2071-2075
-
-
Zangen, D.1
Kaufman, Y.2
Banne, E.3
-
59
-
-
68349149348
-
The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency
-
B. Kohler, L. Lin, I. Mazen, and et al. The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency Eur J Endocrinol 161 2009 237 242
-
(2009)
Eur J Endocrinol
, vol.161
, pp. 237-242
-
-
Kohler, B.1
Lin, L.2
Mazen, I.3
-
60
-
-
40449102287
-
Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: A French collaborative study
-
P. Philibert, D. Zenaty, L. Lin, and et al. Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study Hum Reprod 22 2007 3255 3261
-
(2007)
Hum Reprod
, vol.22
, pp. 3255-3261
-
-
Philibert, P.1
Zenaty, D.2
Lin, L.3
-
61
-
-
77957752301
-
Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1
-
A. Bashamboo, B. Ferraz-de-Souza, D. Lourenco, and et al. Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1 Am J Hum Genet 87 2010 505 512
-
(2010)
Am J Hum Genet
, vol.87
, pp. 505-512
-
-
Bashamboo, A.1
Ferraz-de-Souza, B.2
Lourenco, D.3
-
62
-
-
84882450925
-
Comprehensive sequence analysis of the NR5A1 gene encoding steroidogenic factor 1 in a large group of infertile males
-
A. Röpke, A.C. Tewes, J. Gromoll, and et al. Comprehensive sequence analysis of the NR5A1 gene encoding steroidogenic factor 1 in a large group of infertile males Eur J Hum Genet 21 2013 1012 1015
-
(2013)
Eur J Hum Genet
, vol.21
, pp. 1012-1015
-
-
Röpke, A.1
Tewes, A.C.2
Gromoll, J.3
-
63
-
-
84937518693
-
Mutational screening of NR5A1 gene encoding steroidogenic factor 1 (SF-1) in cryptorchidism and male factor infertility and functional analysis of seven undescribed mutations
-
A. Ferlin, M.S. Rocca, C. Vinanzi, and et al. Mutational screening of NR5A1 gene encoding steroidogenic factor 1 (SF-1) in cryptorchidism and male factor infertility and functional analysis of seven undescribed mutations Fertil Steril 104 2015 163 169
-
(2015)
Fertil Steril
, vol.104
, pp. 163-169
-
-
Ferlin, A.1
Rocca, M.S.2
Vinanzi, C.3
-
64
-
-
62749102793
-
Mutations in NR5A1 associated with ovarian insufficiency
-
D. Lourenco, R. Brauner, L. Lin, and et al. Mutations in NR5A1 associated with ovarian insufficiency N Engl J Med 360 2009 1200 1210
-
(2009)
N Engl J Med
, vol.360
, pp. 1200-1210
-
-
Lourenco, D.1
Brauner, R.2
Lin, L.3
-
65
-
-
84863571720
-
Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals
-
N. Camats, A.V. Pandey, M. Fernández-Cancio, and et al. Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals J Clin Endocrinol Metab 97 2012 E1294 E1306
-
(2012)
J Clin Endocrinol Metab
, vol.97
, pp. E1294-E1306
-
-
Camats, N.1
Pandey, A.V.2
Fernández-Cancio, M.3
-
66
-
-
84155169072
-
Limited contribution of NR5A1 (SF-1) mutations in women with primary ovarian insufficiency (POI)
-
F. Janse, L.M. de With, K.J. Duran, and et al. Limited contribution of NR5A1 (SF-1) mutations in women with primary ovarian insufficiency (POI) Fertil Steril 97 2012 141 146
-
(2012)
Fertil Steril
, vol.97
, pp. 141-146
-
-
Janse, F.1
De With, L.M.2
Duran, K.J.3
-
67
-
-
84877713978
-
NR5A1 (SF-1) mutations are not a major cause of primary ovarian insufficiency
-
A. Voican, A. Bachelot, J. Bouligand, and et al. NR5A1 (SF-1) mutations are not a major cause of primary ovarian insufficiency J Clin Endocrinol Metab 98 2013 E1017 E1021
-
(2013)
J Clin Endocrinol Metab
, vol.98
, pp. E1017-E1021
-
-
Voican, A.1
Bachelot, A.2
Bouligand, J.3
-
68
-
-
77749233736
-
Steroidogenic factor 1 overexpression and gene amplification are more frequent in adrenocortical tumors from children than from adults
-
M.Q. Almeida, I.C. Soares, T.C. Ribeiro, and et al. Steroidogenic factor 1 overexpression and gene amplification are more frequent in adrenocortical tumors from children than from adults J Clin Endocrinol Metab 95 2010 1458 1462
-
(2010)
J Clin Endocrinol Metab
, vol.95
, pp. 1458-1462
-
-
Almeida, M.Q.1
Soares, I.C.2
Ribeiro, T.C.3
-
69
-
-
77957771843
-
High diagnostic and prognostic value of steroidogenic factor-1 expression in adrenal tumors
-
S. Sbiera, S. Schmull, G. Assie, and et al. High diagnostic and prognostic value of steroidogenic factor-1 expression in adrenal tumors J Clin Endocrinol Metab 95 2010 E161 E171
-
(2010)
J Clin Endocrinol Metab
, vol.95
, pp. E161-E171
-
-
Sbiera, S.1
Schmull, S.2
Assie, G.3
-
70
-
-
0035029668
-
Screening for mutations in the steroidogenic acute regulatory protein and steroidogenic factor-1 genes, and in CYP11A and dosage-sensitive sex reversal-adrenal hypoplasia gene on the X chromosome, gene-1 (DAX-1), in hyperandrogenic hirsute women
-
R.M. Calvo, M. Asuncion, D. Telleria, and et al. Screening for mutations in the steroidogenic acute regulatory protein and steroidogenic factor-1 genes, and in CYP11A and dosage-sensitive sex reversal-adrenal hypoplasia gene on the X chromosome, gene-1 (DAX-1), in hyperandrogenic hirsute women J Clin Endocrinol Metab 86 2001 1746 1749
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 1746-1749
-
-
Calvo, R.M.1
Asuncion, M.2
Telleria, D.3
-
71
-
-
79960965496
-
Partial deletion of the NR5A1 (SF1) gene detected by synthetic probe MLPA in a patient with XY gonadal disorder of sex development
-
M. Barbaro, M. Cools, L.H.J. Looijenga, and et al. Partial deletion of the NR5A1 (SF1) gene detected by synthetic probe MLPA in a patient with XY gonadal disorder of sex development Sex Dev 5 2011 181 187
-
(2011)
Sex Dev
, vol.5
, pp. 181-187
-
-
Barbaro, M.1
Cools, M.2
Looijenga, L.H.J.3
-
72
-
-
34248186062
-
Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of Genitopatellar syndrome
-
S. Schlaubitz, S.A. Yatsenko, L.D. Smith, and et al. Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of Genitopatellar syndrome Am J Med Genet A 143A 2007 1071 1081
-
(2007)
Am J Med Genet A
, vol.143 A
, pp. 1071-1081
-
-
Schlaubitz, S.1
Yatsenko, S.A.2
Smith, L.D.3
|