-
1
-
-
0000123102
-
Addison's disease due to congenital adrenal hypoplasia of the adrenals in an infant aged 33 days
-
Sikl H. 1948 Addison's disease due to congenital adrenal hypoplasia of the adrenals in an infant aged 33 days. J Pathol Bactertiol. 60:323-326.
-
(1948)
J Pathol Bactertiol
, vol.60
, pp. 323-326
-
-
Sikl, H.1
-
3
-
-
0015592638
-
Congenital adrenal hypoplasia: An isolated defect of organogenesis
-
Sperling MA, Wolfsen AR, Fisher DA. 1973 Congenital adrenal hypoplasia: an isolated defect of organogenesis. J Pediatr. 82:444-449.
-
(1973)
J Pediatr
, vol.82
, pp. 444-449
-
-
Sperling, M.A.1
Wolfsen, A.R.2
Fisher, D.A.3
-
4
-
-
0023802963
-
Congenital adrenal hypoplasia and selective absence of pituitary luteinizing hormone: A new autosomal recessive syndrome
-
Burke BA, Wick MR, King R, et al. 1988 Congenital adrenal hypoplasia and selective absence of pituitary luteinizing hormone: a new autosomal recessive syndrome. Am J Med Genet. 31:73-97.
-
(1988)
Am J Med Genet
, vol.31
, pp. 73-97
-
-
Burke, B.A.1
Wick, M.R.2
King, R.3
-
5
-
-
0001093226
-
Congenital adrenal hypoplasia
-
New MI, Levine LS (eds) Basel: Karger
-
Kelch RP, Virdis R, Rapaport R, Greig F, Levine LS, New MI. 1984 Congenital adrenal hypoplasia. In: New MI, Levine LS (eds) Adrenal diseases in childhood. Pediatric and adolescent endocrinology. Basel: Karger; vol 13:156-161.
-
(1984)
Adrenal Diseases in Childhood. Pediatric and Adolescent Endocrinology
, vol.13
, pp. 156-161
-
-
Kelch, R.P.1
Virdis, R.2
Rapaport, R.3
Greig, F.4
Levine, L.S.5
New, M.I.6
-
6
-
-
0012426413
-
The pituitary, pineal, adrenal thyroid, and parathyroid glands
-
Stocker JT, Dechner LP, eds. chapt 25. Philadelphia: Lippincott
-
Burke BA. 1992 The pituitary, pineal, adrenal thyroid, and parathyroid glands. In: Stocker JT, Dechner LP, eds. Pediatric pathology, chapt 25. Philadelphia: Lippincott; 941-1001.
-
(1992)
Pediatric Pathology
, pp. 941-1001
-
-
Burke, B.A.1
-
7
-
-
0016639702
-
Luteinizing hormone deficiency in hereditary congenital adrenal hypoplasia
-
Prader A, Zachmann M, Illig R. 1975 Luteinizing hormone deficiency in hereditary congenital adrenal hypoplasia. J Pediatr. 86:421-422.
-
(1975)
J Pediatr
, vol.86
, pp. 421-422
-
-
Prader, A.1
Zachmann, M.2
Illig, R.3
-
8
-
-
0025895516
-
Congenital adrenal hypoplasia and isolated gonadotropin deficiency
-
Kletter GB, Gorski JL, Kelch RP. 1491 Congenital adrenal hypoplasia and isolated gonadotropin deficiency. Trends Endocrinol Metab. 2:123-128.
-
(1491)
Trends Endocrinol Metab
, vol.2
, pp. 123-128
-
-
Kletter, G.B.1
Gorski, J.L.2
Kelch, R.P.3
-
9
-
-
0023215213
-
Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: Molecular genetic evidence for deletions
-
Francke U, Harper JF, Darras BT, et al. 1987 Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions. Am J Hum Genet. 40:212-227.
-
(1987)
Am J Hum Genet
, vol.40
, pp. 212-227
-
-
Francke, U.1
Harper, J.F.2
Darras, B.T.3
-
10
-
-
0027207974
-
Yeast artifical chromosome cloning in the glycerol kinase and adrenal hypoplasia congenita region of Xp21
-
Worley KC, Ellison KA, Zhang YH, et al. 1993 Yeast artifical chromosome cloning in the glycerol kinase and adrenal hypoplasia congenita region of Xp21. Genomics. 16:407-416.
-
(1993)
Genomics
, vol.16
, pp. 407-416
-
-
Worley, K.C.1
Ellison, K.A.2
Zhang, Y.H.3
-
11
-
-
0028558750
-
An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita
-
Zanaria E, Muscatelli F, Bardoni B, et al. 1994 An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita. Nature. 372:635-641.
-
(1994)
Nature
, vol.372
, pp. 635-641
-
-
Zanaria, E.1
Muscatelli, F.2
Bardoni, B.3
-
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 AP, et al. 1994 Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. Nature. 372:672-676.
-
(1994)
Nature
, vol.372
, pp. 672-676
-
-
Muscatelli, F.1
Strom, T.M.2
Walker, A.P.3
-
13
-
-
0029145658
-
Diagnosis of X-linked adrenal hypoplasia congenita by mutation analysis of the DAX1 gene
-
Guo W, Mason JS, Stone CG, et al. 1995 Diagnosis of X-linked adrenal hypoplasia congenita by mutation analysis of the DAX1 gene. JAMA. 274:324-330.
-
(1995)
JAMA
, vol.274
, pp. 324-330
-
-
Guo, W.1
Mason, J.S.2
Stone, C.G.3
-
14
-
-
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 K, Nishi Y, Ohe K, Nawata H. 1996 New mutations of DAX-1 genes in two Japanese patients with X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism. J Clin Endocrinol Metab. 81:530-535.
-
(1996)
J Clin Endocrinol Metab
, vol.81
, pp. 530-535
-
-
Yanase, T.1
Takayanagi, R.2
Oba, K.3
Nishi, Y.4
Ohe, K.5
Nawata, H.6
-
15
-
-
0030011395
-
Genomic sequence of the DAX1 gene: An orphan nuclear receptor responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism
-
Guo W, Burris TP, Zhang YH, et al. 1996 Genomic sequence of the DAX1 gene: an orphan nuclear receptor responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. J Clin Endocrinol Metab. 81:2481-2486.
-
(1996)
J Clin Endocrinol Metab
, vol.81
, pp. 2481-2486
-
-
Guo, W.1
Burris, T.P.2
Zhang, Y.H.3
-
16
-
-
0029809471
-
Adrenal hypoplasia congenita with hypogonadotropic hypogonadism: Evidence that DAX-1 mutations lead to combined hypothalmic and pituitary defects in gonadotropin production
-
Habiby RL, Boepple P, Nachtigall L, Sluss PM, Crowley WF, Jameson JL. 1996 Adrenal hypoplasia congenita with hypogonadotropic hypogonadism: evidence that DAX-1 mutations lead to combined hypothalmic and pituitary defects in gonadotropin production. J Clin Invest. 98:1055-1062.
-
(1996)
J Clin Invest
, vol.98
, pp. 1055-1062
-
-
Habiby, R.L.1
Boepple, P.2
Nachtigall, L.3
Sluss, P.M.4
Crowley, W.F.5
Jameson, J.L.6
-
17
-
-
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 S, et al. 1996 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. 81:3680-3685.
-
(1996)
J Clin Endocrinol Metab
, vol.81
, pp. 3680-3685
-
-
Nakae, J.1
Tajima, T.2
Kusuda, S.3
-
18
-
-
0031060690
-
X-linked adrenal hypoplasia in a large Greenlandic family. Detection of a missense mutation (N440I) in the DAX-1 gene; implication for genetic counselling and carrier diagnosis
-
Schwartz M, Blichfeldt S, Müller J. 1997 X-linked adrenal hypoplasia in a large Greenlandic family. Detection of a missense mutation (N440I) in the DAX-1 gene; implication for genetic counselling and carrier diagnosis. Hum Genet. 99:83-87.
-
(1997)
Hum Genet
, vol.99
, pp. 83-87
-
-
Schwartz, M.1
Blichfeldt, S.2
Müller, J.3
-
19
-
-
0030856363
-
Active hypothalamic-pituitary-gonadal axis in an infant with X-linked adrenal hypoplasia congenita
-
Takahashi T, Shoji Y, Haraguchi N, Takahashi I, Takada G. 1997 Active hypothalamic-pituitary-gonadal axis in an infant with X-linked adrenal hypoplasia congenita. J Pediatr. 130:485-488.
-
(1997)
J Pediatr
, vol.130
, pp. 485-488
-
-
Takahashi, T.1
Shoji, Y.2
Haraguchi, N.3
Takahashi, I.4
Takada, G.5
-
20
-
-
0030912572
-
DAX-1 gene mutations and deletions in Japanese patients with adrenal hypoplasia congenita and hypogonadotrophic hypogonadism
-
Kinoshita E, Yoshimoto M, Motomura K, et al. 1997 DAX-1 gene mutations and deletions in Japanese patients with adrenal hypoplasia congenita and hypogonadotrophic hypogonadism. Horm Res. 48:29-34.
-
(1997)
Horm Res
, vol.48
, pp. 29-34
-
-
Kinoshita, E.1
Yoshimoto, M.2
Motomura, K.3
-
21
-
-
0017796729
-
Simultaneous radioimmunoassay of plasma aldosterone, corticosterone, 11-deoxycorticosterone, progesterone, 17-hydroxyprogesterone, 11-deoxycortisol, cortisol, and cortisone
-
Sippell WG, Bidlingmaier F, Becker H, et al. 1978 Simultaneous radioimmunoassay of plasma aldosterone, corticosterone, 11-deoxycorticosterone, progesterone, 17-hydroxyprogesterone, 11-deoxycortisol, cortisol, and cortisone. J Steroid Biochem. 9:63-74.
-
(1978)
J Steroid Biochem
, vol.9
, pp. 63-74
-
-
Sippell, W.G.1
Bidlingmaier, F.2
Becker, H.3
-
23
-
-
0023577720
-
Infantile glycerol kinase deficiency-a condition requiring prompt identification. Clinical, biochemical, and morphological findings in two cases
-
Kohlschütter A, Willig HP, Schlamp D, et al. 1987 Infantile glycerol kinase deficiency-a condition requiring prompt identification. Clinical, biochemical, and morphological findings in two cases. Eur J Pediatr. 146:575-581.
-
(1987)
Eur J Pediatr
, vol.146
, pp. 575-581
-
-
Kohlschütter, A.1
Willig, H.P.2
Schlamp, D.3
-
24
-
-
0018913182
-
Plasma levels of aldosterone, corticosterone, 11-deoxycorticosterone, progesterone, 17-hydroxyprogesterone, 11-deoxycortisol, cortisol, and cortisone during infancy and childhood
-
Sippell WG, Dörr HG, Bidlingmaier F, Knorr D. 1980 Plasma levels of aldosterone, corticosterone, 11-deoxycorticosterone, progesterone, 17-hydroxyprogesterone, 11-deoxycortisol, cortisol, and cortisone during infancy and childhood. Pediatr Res. 14:39-44.
-
(1980)
Pediatr Res
, vol.14
, pp. 39-44
-
-
Sippell, W.G.1
Dörr, H.G.2
Bidlingmaier, F.3
Knorr, D.4
-
25
-
-
0018875672
-
17-Hydroxyprogesterone, and rostenedione, and testosterone in normal children and in prepubertal children with congenital adrenal hyperplasia
-
Schnakenburg K, Bidlingmaier F, Knorr D. 1980 17-Hydroxyprogesterone, and rostenedione, and testosterone in normal children and in prepubertal children with congenital adrenal hyperplasia. Pediatrics. 133:259-267.
-
(1980)
Pediatrics
, vol.133
, pp. 259-267
-
-
Schnakenburg, K.1
Bidlingmaier, F.2
Knorr, D.3
-
26
-
-
0027249597
-
Genomic scanning for expressed sequences in Xp21 identifies the glycerol kinase gene
-
Guo W, Worley KC, Adams V, et al. 1993 Genomic scanning for expressed sequences in Xp21 identifies the glycerol kinase gene. Nat Genet. 4:367-372.
-
(1993)
Nat Genet
, vol.4
, pp. 367-372
-
-
Guo, W.1
Worley, K.C.2
Adams, V.3
-
27
-
-
0023904860
-
The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein
-
Koenig M, Monaco AP, Kunkel LM. 1988 The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. Cell. 53:219-226.
-
(1988)
Cell
, vol.53
, pp. 219-226
-
-
Koenig, M.1
Monaco, A.P.2
Kunkel, L.M.3
-
28
-
-
0017541068
-
Congenital adrenal hypoplasia and hypogonadotropic hypogonadism
-
Golden MP, Lippe BM, Kaplan SA. 1977 Congenital adrenal hypoplasia and hypogonadotropic hypogonadism. Am J Dis Child. 131:1117-1118.
-
(1977)
Am J Dis Child
, vol.131
, pp. 1117-1118
-
-
Golden, M.P.1
Lippe, B.M.2
Kaplan, S.A.3
-
29
-
-
15144352166
-
Gonadotropin deficiency and adrenocortical insufficiency in children: A new syndrome
-
Kelly WF, Joplin GF, Pearson GW. 1477 Gonadotropin deficiency and adrenocortical insufficiency in children: a new syndrome. Br Med J. 9:98.
-
(1477)
Br Med J
, vol.9
, pp. 98
-
-
Kelly, W.F.1
Joplin, G.F.2
Pearson, G.W.3
-
30
-
-
0019517931
-
Familial cytomegalic adrenocortical hypopasia: An X-linked syndrome of pubertal failure
-
Hay ID, Smail PJ, Forsyth CC. 1983 Familial cytomegalic adrenocortical hypopasia: an X-linked syndrome of pubertal failure. Arch Dis Child. 56:715-721.
-
(1983)
Arch Dis Child
, vol.56
, pp. 715-721
-
-
Hay, I.D.1
Smail, P.J.2
Forsyth, C.C.3
-
32
-
-
0018873091
-
Gonadotropin deficiency and cryptorchidism in three prepubertal brothers with congenital adrenal hypoplasia
-
Zachmann M, Illig R, Prader A. 1980 Gonadotropin deficiency and cryptorchidism in three prepubertal brothers with congenital adrenal hypoplasia. J Pediatr. 97:255-257.
-
(1980)
J Pediatr
, vol.97
, pp. 255-257
-
-
Zachmann, M.1
Illig, R.2
Prader, A.3
-
33
-
-
0021741548
-
Contrasting effects of subcutaneous pulsatile GnRH therapy in congenital adrenal hypoplasia and Kallmann's syndrome
-
Oxf
-
Gordon D, Cohen HN, Beastall GH, Hay ID, Thomson J A. 1984 Contrasting effects of subcutaneous pulsatile GnRH therapy in congenital adrenal hypoplasia and Kallmann's syndrome. Clin Endocrinol (Oxf). 21:597-603.
-
(1984)
Clin Endocrinol
, vol.21
, pp. 597-603
-
-
Gordon, D.1
Cohen, H.N.2
Beastall, G.H.3
Hay, I.D.4
Thomson, J.A.5
-
34
-
-
0023233197
-
Failure to induce puberty in a man with X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism by pulsatile administration of low-dose gonadotropin-releasing hormone
-
Copenh
-
Kikuchi K, Kaji M, Momoi T, Mikawa H, Shigematsu Y, Sudo M. 1987 Failure to induce puberty in a man with X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism by pulsatile administration of low-dose gonadotropin-releasing hormone. Acta Endocrinol (Copenh). 114:153-160.
-
(1987)
Acta Endocrinol
, vol.114
, pp. 153-160
-
-
Kikuchi, K.1
Kaji, M.2
Momoi, T.3
Mikawa, H.4
Shigematsu, Y.5
Sudo, M.6
-
35
-
-
0023968754
-
Lack of gonadotropic response to pulsatile gonadotropin-releasing hormone in isolated hypogonadotropic hypogonadism associated to congenital adrenal hypoplasia
-
Bovet P, Reymond MJ, Rey F, Gomez F. 1988 Lack of gonadotropic response to pulsatile gonadotropin-releasing hormone in isolated hypogonadotropic hypogonadism associated to congenital adrenal hypoplasia. J Endocrinol Invest. 11:201-204.
-
(1988)
J Endocrinol Invest
, vol.11
, pp. 201-204
-
-
Bovet, P.1
Reymond, M.J.2
Rey, F.3
Gomez, F.4
-
36
-
-
0021365769
-
Hypogonadism in congenital adrenal hypoplasia: Evidence for a hypothalamic origin
-
Kruse K, Sippell WG, Schnakenburg K. 1984 Hypogonadism in congenital adrenal hypoplasia: evidence for a hypothalamic origin. J Clin Endocrinol Metab. 58:12-17.
-
(1984)
J Clin Endocrinol Metab
, vol.58
, pp. 12-17
-
-
Kruse, K.1
Sippell, W.G.2
Schnakenburg, K.3
-
37
-
-
0024350089
-
Hypothalamic hypogonadism in congenital adrenal hypoplasia
-
Partsch CJ, Sippell WG. 1989 Hypothalamic hypogonadism in congenital adrenal hypoplasia. Horm Metab Res. 21:623-625.
-
(1989)
Horm Metab Res
, vol.21
, pp. 623-625
-
-
Partsch, C.J.1
Sippell, W.G.2
-
38
-
-
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. 1995 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. 56:8-13.
-
(1995)
Biochem Mol Med
, vol.56
, pp. 8-13
-
-
Guo, W.1
Burris, T.P.2
McCabe, E.R.3
-
40
-
-
0017669349
-
Zur Häufigkeit des kongenitalen adrenogenitalen Syndroms (AGS): München 1963-72
-
Mauthe I, Laspe H, Knorr D. 1976 Zur Häufigkeit des kongenitalen adrenogenitalen Syndroms (AGS): München 1963-72. Klin Paediatr. 189:172-176.
-
(1976)
Klin Paediatr
, vol.189
, pp. 172-176
-
-
Mauthe, I.1
Laspe, H.2
Knorr, D.3
-
41
-
-
0029047410
-
Identification of a putative steroidogenic factor-1 response element in the DAX-1 promoter
-
Burris TP, Guo W, Le T, McCabe ER. 1995 Identification of a putative steroidogenic factor-1 response element in the DAX-1 promoter. Biochem Biophys Res Commun. 214:576-581.
-
(1995)
Biochem Biophys Res Commun
, vol.214
, pp. 576-581
-
-
Burris, T.P.1
Guo, W.2
Le, T.3
McCabe, E.R.4
-
42
-
-
0031031237
-
Steroidogenic factor I acts at all levels of the reproductive axis
-
Caron KM, Clark BJ, Ikeda Y, Parker KL. 1997 Steroidogenic factor I acts at all levels of the reproductive axis. Steroids. 62:53-56.
-
(1997)
Steroids
, vol.62
, pp. 53-56
-
-
Caron, K.M.1
Clark, B.J.2
Ikeda, Y.3
Parker, K.L.4
-
43
-
-
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 BR, Camerino G. 1996 Mouse Dax1 expression is consistent with a role in sex determination as well as in adrenal and hypothalamus function. Nat Genet. 12:404-109.
-
(1996)
Nat Genet
, vol.12
, pp. 404-1109
-
-
Swain, A.1
Zanaria, E.2
Hacker, A.3
Lovell, B.R.4
Camerino, G.5
-
44
-
-
0029841777
-
Characterization of the mouse DAX-1 gene reveals evolutionary conservation of a unique amino-terminal motif and widespread expression in mouse tissue
-
Bae DS, Schaefer ML, Partan BW, Muglia L. 1996 Characterization of the mouse DAX-1 gene reveals evolutionary conservation of a unique amino-terminal motif and widespread expression in mouse tissue. Endocrinology. 137:3921-3927.
-
(1996)
Endocrinology
, vol.137
, pp. 3921-3927
-
-
Bae, D.S.1
Schaefer, M.L.2
Partan, B.W.3
Muglia, L.4
-
45
-
-
0030728417
-
DNA binding and transcriptional repression by DAX-1 blocks steroidogenesis
-
Zazopoulos E, Lalli E, Stocco DM, Sassone-Corsi P. 1997 DNA binding and transcriptional repression by DAX-1 blocks steroidogenesis. Nature. 390:311-315.
-
(1997)
Nature
, vol.390
, pp. 311-315
-
-
Zazopoulos, E.1
Lalli, E.2
Stocco, D.M.3
Sassone-Corsi, P.4
-
46
-
-
0030780854
-
A transcriptional silencing domain an DAX-1 whose mutation causes adrenal hypoplasia congenita
-
Lalli E, Bardoni B, Zazopoulos E, et al. 1997 A transcriptional silencing domain an DAX-1 whose mutation causes adrenal hypoplasia congenita. Mol Endocrinol. 13:1950-1960.
-
(1997)
Mol Endocrinol
, vol.13
, pp. 1950-1960
-
-
Lalli, E.1
Bardoni, B.2
Zazopoulos, E.3
|