-
1
-
-
0027957103
-
A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal
-
Bardoni B, Zanaria E, Guioli Set al. A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal. Nat Genet. 7:1994;497-501.
-
(1994)
Nat Genet
, vol.7
, pp. 497-501
-
-
Bardoni, B.1
Zanaria, E.2
Guioli, S.3
-
2
-
-
0023802963
-
Congenital adrenal hypoplasia and selective absence of pituitary luteinizing hormone, a new autosomal recessive syndrome
-
Burke BA, Wick MR, King Ret al. Congenital adrenal hypoplasia and selective absence of pituitary luteinizing hormone, a new autosomal recessive syndrome. Am J Med Genet. 31:1988;75-97.
-
(1988)
Am J Med Genet
, vol.31
, pp. 75-97
-
-
Burke, B.A.1
Wick, M.R.2
King, R.3
-
3
-
-
0031895798
-
Nuclear receptor DAX-1 recruits nuclear receptor corepressor N-CoR to steroidogenic factor 1
-
Crawford PA, Dorn C, Sadovsky Y, Milbrandt J Nuclear receptor DAX-1 recruits nuclear receptor corepressor N-CoR to steroidogenic factor 1. Mol Cell Biol. 18:1998;2949-2956.
-
(1998)
Mol Cell Biol
, vol.18
, pp. 2949-2956
-
-
Crawford, P.A.1
Dorn, C.2
Sadovsky, Y.3
Milbrandt, J.4
-
4
-
-
0028818621
-
Expression of DAX-1, the gene responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism, in the hypothalamic-pituitary-adrenal/gonadal axis
-
Guo W, Burris TP, McCabe ER Expression of DAX-1, the gene responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism, in the hypothalamic-pituitary-adrenal/gonadal axis. Biochem Mol Med. 56:1995;8-13.
-
(1995)
Biochem Mol Med
, vol.56
, pp. 8-13
-
-
Guo, W.1
Burris, T.P.2
McCabe, E.R.3
-
5
-
-
0029809471
-
Adrenal hypoplasia congenita with hypogonadotropic hypogonadism, evidence that DAX-1 mutations lead to combined hypothalamic and pituitary defects in gonadotropin production
-
Habiby RL, Boepple P, Nachtigall Let al. Adrenal hypoplasia congenita with hypogonadotropic hypogonadism, evidence that DAX-1 mutations lead to combined hypothalamic and pituitary defects in gonadotropin production. J Clin Invest. 98:1996;1055-1062.
-
(1996)
J Clin Invest
, vol.98
, pp. 1055-1062
-
-
Habiby, R.L.1
Boepple, P.2
Nachtigall, L.3
-
6
-
-
10144260675
-
Steroidogenic factor 1 and Dax-1 colocalize in multiple cell lineages, potential links in endocrine development
-
Ikeda Y, Swain A, Weber TJet al. Steroidogenic factor 1 and Dax-1 colocalize in multiple cell lineages, potential links in endocrine development. Mol Endocrinol. 10:1996;1261-1272.
-
(1996)
Mol Endocrinol
, vol.10
, pp. 1261-1272
-
-
Ikeda, Y.1
Swain, A.2
Weber, T.J.3
-
7
-
-
0031020234
-
DAX-1 inhibits SF-1-mediated transactivation via a carboxy-terminal domain that is deleted in adrenal hypoplasia congenita
-
Ito M, Yu R, Jameson JL 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
-
8
-
-
0030912572
-
DAX-1 gene mutations and deletions in Japanese patients with adrenal hypoplasia congenita and hypogonadotropic hypogonadism
-
Kinoshita E, Yoshimoto M, Motomura Ket al. DAX-1 gene mutations and deletions in Japanese patients with adrenal hypoplasia congenita and hypogonadotropic hypogonadism. Horm Res. 48:1997;29-34.
-
(1997)
Horm Res
, vol.48
, pp. 29-34
-
-
Kinoshita, E.1
Yoshimoto, M.2
Motomura, K.3
-
9
-
-
0025895516
-
Congenital adrenal hypoplasia and isolated gonadotropin deficiency
-
Kletter GB, Gorski JL, Kelch RP Congenital adrenal hypoplasia and isolated gonadotropin deficiency. Trends Endocrinol Metab. 2:1991;123-128.
-
(1991)
Trends Endocrinol Metab
, vol.2
, pp. 123-128
-
-
Kletter, G.B.1
Gorski, J.L.2
Kelch, R.P.3
-
10
-
-
0030780854
-
A transcriptional silencing domain in DAX-1 whose mutation causes adrenal hypoplasia congenita
-
Lalli E, Bardoni B, Zazopoulos Eet al. A transcriptional silencing domain in DAX-1 whose mutation causes adrenal hypoplasia congenita. Mol Endocrinol. 11:1997;1950-1960.
-
(1997)
Mol Endocrinol
, vol.11
, pp. 1950-1960
-
-
Lalli, E.1
Bardoni, B.2
Zazopoulos, E.3
-
11
-
-
0029750231
-
New frameshift mutation in the DAX-1 gene in a patient with X-linked adrenal hypoplasia and hypogonadotropic hypogonadism
-
Meloni A, Meloni A, Cao A, Rosatelli MC New frameshift mutation in the DAX-1 gene in a patient with X-linked adrenal hypoplasia and hypogonadotropic hypogonadism. Hum Mutat. 8:1996;183-184.
-
(1996)
Hum Mutat
, vol.8
, pp. 183-184
-
-
Meloni, A.1
Meloni, A.2
Cao, A.3
Rosatelli, M.C.4
-
12
-
-
0028598360
-
Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism
-
Muscatelli F, Strom TM, Walker APet 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
-
13
-
-
10244264867
-
Truncation at the C-terminus of the DAX-1 protein impairs its biological actions in patients with X-linked adrenal hypoplasia congenita
-
Nakae J, Tajima T, Kusuda Set al. Truncation at the C-terminus of the DAX-1 protein impairs its biological actions in patients with X-linked adrenal hypoplasia congenita. J Clin Endocrinol Metab. 81:1996;3680-3685.
-
(1996)
J Clin Endocrinol Metab
, vol.81
, pp. 3680-3685
-
-
Nakae, J.1
Tajima, T.2
Kusuda, S.3
-
14
-
-
0031010818
-
Steroidogenic factor 1, a key determinant of endocrine development and function
-
Parker KL, Schimmer BP Steroidogenic factor 1, a key determinant of endocrine development and function. Endocr Rev. 18:1997;361-377.
-
(1997)
Endocr Rev
, vol.18
, pp. 361-377
-
-
Parker, K.L.1
Schimmer, B.P.2
-
15
-
-
0031463328
-
Porcine Dax-1 gene, isolation and expression during gonadal development
-
Parma P, Pailhoux E, Puissant C, Cotinot C Porcine Dax-1 gene, isolation and expression during gonadal development. Mol Cell Endocrinol. 135:1997;49-58.
-
(1997)
Mol Cell Endocrinol
, vol.135
, pp. 49-58
-
-
Parma, P.1
Pailhoux, E.2
Puissant, C.3
Cotinot, C.4
-
16
-
-
0016639702
-
Luteinizing hormone deficiency in hereditary congenital adrenal hypoplasia
-
Prader A, Zachmann M, Illig R Luteinizing hormone deficiency in hereditary congenital adrenal hypoplasia. J Pediatr. 86:1975;421-422.
-
(1975)
J Pediatr
, vol.86
, pp. 421-422
-
-
Prader, A.1
Zachmann, M.2
Illig, R.3
-
17
-
-
0031060690
-
X-linked adrenal hypoplasia in a large Greenlandic family. Detection of a missense mutation (N4401) in the DAX-1 gene; Implication for genetic counselling and carrier diagnosis
-
Schwartz M, Blichfeldt S, Muller J X-linked adrenal hypoplasia in a large Greenlandic family. Detection of a missense mutation (N4401) in the DAX-1 gene; implication for genetic counselling and carrier diagnosis. Hum Genet. 99:1997;83-87.
-
(1997)
Hum Genet
, vol.99
, pp. 83-87
-
-
Schwartz, M.1
Blichfeldt, S.2
Muller, J.3
-
18
-
-
0029912474
-
Mouse Dax1 expression is consistent with a role in sex determination as well as in adrenal and hypothalamus function
-
Swain A, Zanaria E, Hacker A, Lovell-Badge R, Camerino G Mouse Dax1 expression is consistent with a role in sex determination as well as in adrenal and hypothalamus function. Nat Genet. 12:1996;404-409.
-
(1996)
Nat Genet
, vol.12
, pp. 404-409
-
-
Swain, A.1
Zanaria, E.2
Hacker, A.3
Lovell-Badge, R.4
Camerino, G.5
-
19
-
-
0032546009
-
Dax1 antagonizes Sry action in mammalian sex determination
-
Swain A, Narvaez V, Burgoyne P, Camerino G, Lovell-Badge R Dax1 antagonizes Sry action in mammalian sex determination. Nature. 391:1998;761-767.
-
(1998)
Nature
, vol.391
, pp. 761-767
-
-
Swain, A.1
Narvaez, V.2
Burgoyne, P.3
Camerino, G.4
Lovell-Badge, R.5
-
20
-
-
0030856363
-
Active hypothalamic-pituitary-gonadal axis in an infant with X-linked adrenal hypoplasia congenita
-
Takahashi T, Shoji Y, Shoji Yet al. Active hypothalamic-pituitary-gonadal axis in an infant with X-linked adrenal hypoplasia congenita. J Pediatr. 130:1997;485-488.
-
(1997)
J Pediatr
, vol.130
, pp. 485-488
-
-
Takahashi, T.1
Shoji, Y.2
Shoji, Y.3
-
21
-
-
0029857387
-
Hormonal and developmental regulation of DAX-1 expression in Sertoli cells
-
Tamai KT, Monaco L, Alastalo TPet al. Hormonal and developmental regulation of DAX-1 expression in Sertoli cells. Mol Endocrinol. 10:1996;1561-1569.
-
(1996)
Mol Endocrinol
, vol.10
, pp. 1561-1569
-
-
Tamai, K.T.1
Monaco, L.2
Alastalo, T.P.3
-
22
-
-
0014367648
-
Familial congenital adrenal hypoplasia
-
Uttley WS Familial congenital adrenal hypoplasia. Arch Dis Child. 43:1968;724-730.
-
(1968)
Arch Dis Child
, vol.43
, pp. 724-730
-
-
Uttley, W.S.1
-
23
-
-
0026949686
-
A YAC contig in Xp21 containing the adrenal hypoplasia congenita and glycerol kinase deficiency genes
-
Walker AP, Chelly J, Love DRet al. A YAC contig in Xp21 containing the adrenal hypoplasia congenita and glycerol kinase deficiency genes. Hum Mol Genet. 1:1992;579-585.
-
(1992)
Hum Mol Genet
, vol.1
, pp. 579-585
-
-
Walker, A.P.1
Chelly, J.2
Love, D.R.3
-
24
-
-
0030063778
-
New mutations of DAX-1 genes in two Japanese patients with X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism
-
Yanase T, Takayanagi R, Oba Ket al. New mutations of DAX-1 genes in two Japanese patients with X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism. J Clin Endocrinol Metab. 81:1996;530-535.
-
(1996)
J Clin Endocrinol Metab
, vol.81
, pp. 530-535
-
-
Yanase, T.1
Takayanagi, R.2
Oba, K.3
-
25
-
-
0028558750
-
An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita
-
Zanaria E, Muscatelli F, Bardoni Bet 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
-
26
-
-
0030728417
-
DNA binding and transcriptional repression by DAX-1 blocks steroidogenesis
-
Zazopoulos E, Lalli E, Stocco DM, Sassone-Corsi P DNA binding and transcriptional repression by DAX-1 blocks steroidogenesis. Nature. 390:1997;311-315.
-
(1997)
Nature
, vol.390
, pp. 311-315
-
-
Zazopoulos, E.1
Lalli, E.2
Stocco, D.M.3
Sassone-Corsi, P.4
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