-
1
-
-
0032990419
-
A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans
-
Achermann JC, Ito M, Hindmarsh PC, Jameson JL. 1999. A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans. Nat Genet 22:125-126.
-
(1999)
Nat Genet
, vol.22
, pp. 125-126
-
-
Achermann, J.C.1
Ito, M.2
Hindmarsh, P.C.3
Jameson, J.L.4
-
2
-
-
0036277895
-
Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner
-
Achermann JC, Ozisik G, Ito M, Orun UA, Harmanci K, Gurakan B, Jameson JL. 2002. Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner. J Clin Endocrinol Metab 87:1829-1833.
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 1829-1833
-
-
Achermann, J.C.1
Ozisik, G.2
Ito, M.3
Orun, U.A.4
Harmanci, K.5
Gurakan, B.6
Jameson, J.L.7
-
3
-
-
21244505473
-
Familial occurrence of the IMAGe association: Additional clinical variants and a proposed mode of inheritance
-
Bergada I, Del Rey G, Lapunzina P, Bergada C, Fellous M, Copelli S. 2005. Familial occurrence of the IMAGe association: Additional clinical variants and a proposed mode of inheritance. J Clin Endocrinol Metab 90:3186-3190.
-
(2005)
J Clin Endocrinol Metab
, vol.90
, pp. 3186-3190
-
-
Bergada, I.1
Del Rey, G.2
Lapunzina, P.3
Bergada, C.4
Fellous, M.5
Copelli, S.6
-
4
-
-
0024996081
-
Congenital adrenal hypoplasia in association with growth hormone deficiency, developmental delay, partial androgen resistance, unusual facies, and skeletal abnormalities
-
Blethen SL, Wenick GB, Hawkins LA. 1990. Congenital adrenal hypoplasia in association with growth hormone deficiency, developmental delay, partial androgen resistance, unusual facies, and skeletal abnormalities. Dysmorphol Clin Genet 4:110-116.
-
(1990)
Dysmorphol Clin Genet
, vol.4
, pp. 110-116
-
-
Blethen, S.L.1
Wenick, G.B.2
Hawkins, L.A.3
-
5
-
-
0242585421
-
A peculiar form of neonatal adrenal insufficiency: The IMAGe association. Two new cases
-
Ferey S, Merzoug V, Linlart A, Chaussain JL, Kalifa G. 2003. A peculiar form of neonatal adrenal insufficiency: The IMAGe association. Two new cases. J Radiol 84:323-325.
-
(2003)
J Radiol
, vol.84
, pp. 323-325
-
-
Ferey, S.1
Merzoug, V.2
Linlart, A.3
Chaussain, J.L.4
Kalifa, G.5
-
6
-
-
0036049405
-
IMAGe association: Additional clinical features and evidence for recessive autosomal inheritance
-
Lienhardt A, Mas JC, Kalifa G, Chaussain JI, Tauber M. 2002. IMAGe association: Additional clinical features and evidence for recessive autosomal inheritance. Horm Res 57:71-78.
-
(2002)
Horm Res
, vol.57
, pp. 71-78
-
-
Lienhardt, A.1
Mas, J.C.2
Kalifa, G.3
Chaussain, J.I.4
Tauber, M.5
-
7
-
-
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, Zanaria E, Recan D, Meindl A, Bardoni B, Guioli S, Zehetner G, Rabl W, SchwarZ HP, Laplan J, Camerino G, Meitinger T, Monaco AP. 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
Zanaria, E.4
Recan, D.5
Meindl, A.6
Bardoni, B.7
Guioli, S.8
Zehetner, G.9
Rabl, W.10
SchwarZ, H.P.11
Laplan, J.12
Camerino, G.13
Meitinger, T.14
Monaco, A.P.15
-
8
-
-
1542347707
-
IMAGe syndrome: A complex disorder affecting growth, adrenal and gonadal function, and skeletal development
-
Pedreira CC, Savarirayan R, Zacharin MR. 2004. IMAGe syndrome: A complex disorder affecting growth, adrenal and gonadal function, and skeletal development. J Pediatr 144:274-277.
-
(2004)
J Pediatr
, vol.144
, pp. 274-277
-
-
Pedreira, C.C.1
Savarirayan, R.2
Zacharin, M.R.3
-
9
-
-
33746658040
-
Two sisters with IMAGe syndrome: Cytomegalic adrenal histopathology, support for autosomal recessive inheritance and literature review
-
Tan TY, Jameson JL, Campbell PE, Ekert PG, Zacharin M, Savarirayan R. 2006. Two sisters with IMAGe syndrome: Cytomegalic adrenal histopathology, support for autosomal recessive inheritance and literature review. Am J Med Genet Part A 140A:1778-1784.
-
(2006)
Am J Med Genet
, vol.140 A
, Issue.PART A
, pp. 1778-1784
-
-
Tan, T.Y.1
Jameson, J.L.2
Campbell, P.E.3
Ekert, P.G.4
Zacharin, M.5
Savarirayan, R.6
-
10
-
-
0033850730
-
Cephaloskeletal dysplasia (Taybi-Linder syndrome: Osteodysplastic primordial dwarfism type III): Report of two cases and review of the literature
-
Vichi GF, Currarino G, Wasserman RL, Duvina PL, Fillippi L. 2000. Cephaloskeletal dysplasia (Taybi-Linder syndrome: osteodysplastic primordial dwarfism type III): Report of two cases and review of the literature. Pediatr Radiol 30:644-652.
-
(2000)
Pediatr Radiol
, vol.30
, pp. 644-652
-
-
Vichi, G.F.1
Currarino, G.2
Wasserman, R.L.3
Duvina, P.L.4
Fillippi, L.5
-
11
-
-
0033304828
-
IMAGe, a new clinical association of intrauterine growth retardation, metaohyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies
-
Vilain E, Le Merrer M, Lecointre C, Desangles F, Kay MA, Maroteaux P, McCabe ER. 1999. IMAGe, a new clinical association of intrauterine growth retardation, metaohyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies. J Clin Endocrinol Metab 84:4335-4340.
-
(1999)
J Clin Endocrinol Metab
, vol.84
, pp. 4335-4340
-
-
Vilain, E.1
Le Merrer, M.2
Lecointre, C.3
Desangles, F.4
Kay, M.A.5
Maroteaux, P.6
McCabe, E.R.7
|