-
2
-
-
0017845477
-
Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production
-
Allgrove J, Clayden GS, Grant DB, Macaulay JC (1978) Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production. Lancet I:1284-1286
-
(1978)
Lancet
, vol.1
, pp. 1284-1286
-
-
Allgrove, J.1
Clayden, G.S.2
Grant, D.B.3
Macaulay, J.C.4
-
3
-
-
0027324668
-
Neurological and adrenal dysfunction in the adrenal insufficiency/alacrima/achalasia (3A) syndrome
-
Grant DB, Barnes ND, Dumic M, Ginalska-Malinowska M, Milla PJ, von Petrykowski W, Rowlatt RJ, Steendijk R, Wales JHK, Werder E (1993) Neurological and adrenal dysfunction in the adrenal insufficiency/alacrima/achalasia (3A) syndrome. Arch Dis Child 68:779-782
-
(1993)
Arch Dis Child
, vol.68
, pp. 779-782
-
-
Grant, D.B.1
Barnes, N.D.2
Dumic, M.3
Ginalska-Malinowska, M.4
Milla, P.J.5
Von Petrykowski, W.6
Rowlatt, R.J.7
Steendijk, R.8
Wales, J.H.K.9
Werder, E.10
-
4
-
-
0026800892
-
The cloning of a family of genes that encode melanocortin receptors
-
Mountjoy KG, Robbins LS, Mortrud MT, Cone RD (1992) The cloning of a family of genes that encode melanocortin receptors. Science 257:1248-1251
-
(1992)
Science
, vol.257
, pp. 1248-1251
-
-
Mountjoy, K.G.1
Robbins, L.S.2
Mortrud, M.T.3
Cone, R.D.4
-
5
-
-
0027396787
-
Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor
-
Clark AJL, McLoughlin L, Grossman A (1993) Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor. Lancet 341:461-462
-
(1993)
Lancet
, vol.341
, pp. 461-462
-
-
Clark, A.J.L.1
McLoughlin, L.2
Grossman, A.3
-
6
-
-
0028349072
-
Mutations of the ACTH receptor gene are only one cause of familial glucocorticoid deficiency
-
Weber A, Clark AJL (1994) Mutations of the ACTH receptor gene are only one cause of familial glucocorticoid deficiency. Hum Mol Gen 3:585-588
-
(1994)
Hum Mol Gen
, vol.3
, pp. 585-588
-
-
Weber, A.1
Clark, A.J.L.2
-
7
-
-
0028815022
-
Adrenocorticotropin receptor gene mutations in familial glucocorticoid deficiency: Relationships with clinical features in four families
-
Weber A, Toppari J, Harvey R et al (1995) Adrenocorticotropin receptor gene mutations in familial glucocorticoid deficiency: relationships with clinical features in four families. J Clin Endocrinol Metab 80:65-71
-
(1995)
J Clin Endocrinol Metab
, vol.80
, pp. 65-71
-
-
Weber, A.1
Toppari, J.2
Harvey, R.3
-
8
-
-
0027423948
-
Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene
-
Tsigos C, Arai K, Hung W, Chrousos GP (1993) Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene. J Clin Invest 92:2458-2461
-
(1993)
J Clin Invest
, vol.92
, pp. 2458-2461
-
-
Tsigos, C.1
Arai, K.2
Hung, W.3
Chrousos, G.P.4
-
9
-
-
0029870664
-
Demonstration by transfection studies that mutations in the adrenocorticotropin receptor gene are one cause of the hereditary syndrome of glucocorticoid deficiency
-
Naville D, Barjhoux L, Jaillard C, Faury D, Despert F, Esteva B et al (1996) Demonstration by transfection studies that mutations in the adrenocorticotropin receptor gene are one cause of the hereditary syndrome of glucocorticoid deficiency. J Clin Endocrinol Metab 81:1442-1448
-
(1996)
J Clin Endocrinol Metab
, vol.81
, pp. 1442-1448
-
-
Naville, D.1
Barjhoux, L.2
Jaillard, C.3
Faury, D.4
Despert, F.5
Esteva, B.6
-
10
-
-
0029029505
-
A novel mutation of the adrenocorticotropin receptor (ACTH-R) gene in a family with the syndrome of isolated glucocorticoid deficiency, but no ACTH-R abnormalities in two families with the triple a syndrome
-
Tsigos C, Arai K, Latronico AC, DiGeorge AM, Rapaport R, Chrousos GP (1995) A novel mutation of the adrenocorticotropin receptor (ACTH-R) gene in a family with the syndrome of isolated glucocorticoid deficiency, but no ACTH-R abnormalities in two families with the triple A syndrome. J Clin Endocrinol Metab 80:2186-2189
-
(1995)
J Clin Endocrinol Metab
, vol.80
, pp. 2186-2189
-
-
Tsigos, C.1
Arai, K.2
Latronico, A.C.3
DiGeorge, A.M.4
Rapaport, R.5
Chrousos, G.P.6
-
11
-
-
0027500950
-
Functional characterization of the cloned human ACTH receptor: Impaired responsiveness of a mutant receptor in familial glucocorticoid deficiency
-
Weber A, Kapas S, Hinson J et al (1993) Functional characterization of the cloned human ACTH receptor: impaired responsiveness of a mutant receptor in familial glucocorticoid deficiency. Biochem Biophys Res Commun 197:172-178
-
(1993)
Biochem Biophys Res Commun
, vol.197
, pp. 172-178
-
-
Weber, A.1
Kapas, S.2
Hinson, J.3
-
12
-
-
0029084519
-
Cloning, characterization and expression of a functional mouse ACTH receptor
-
Cammas FM, Kapas S, Barker S, Clark AJL. (1995) Cloning, characterization and expression of a functional mouse ACTH receptor. Biochem Biophys Res Commun 212:912-918
-
(1995)
Biochem Biophys Res Commun
, vol.212
, pp. 912-918
-
-
Cammas, F.M.1
Kapas, S.2
Barker, S.3
Clark, A.J.L.4
-
13
-
-
0027361220
-
Localization of the genes encoding the melanocortin-2 (adrenocorticotropic hormone) and melanocortin-3 receptors to chromosomes 18p11.2 and 20q13.2-q13.3 by fluorescent in situ hybridization
-
Gantz I, Tashiro T, Bancroft C et al (1993c) Localization of the genes encoding the melanocortin-2 (adrenocorticotropic hormone) and melanocortin-3 receptors to chromosomes 18p11.2 and 20q13.2-q13.3 by fluorescent in situ hybridization. Genomics 18:166-167
-
(1993)
Genomics
, vol.18
, pp. 166-167
-
-
Gantz, I.1
Tashiro, T.2
Bancroft, C.3
-
14
-
-
0028485229
-
Mapping of the ACTH, MSH, and neural (MC3 & MC4) melanocortin receptors in the mouse and human
-
Magenis RE, Smith L, Nadeau JH et al (1994) Mapping of the ACTH, MSH, and neural (MC3 & MC4) melanocortin receptors in the mouse and human. Mammalian Genome 5:503-508
-
(1994)
Mammalian Genome
, vol.5
, pp. 503-508
-
-
Magenis, R.E.1
Smith, L.2
Nadeau, J.H.3
-
15
-
-
0026665062
-
Steroidogenic factor 1, a key regulator of steroidogenic enzyme expression, is the mouse homolog of fushi tarazu-fuctor 1
-
Lala DS, Rice DA, Parker KL (1992) Steroidogenic factor 1, a key regulator of steroidogenic enzyme expression, is the mouse homolog of fushi tarazu-fuctor 1. Mol Endocrinol 6:1249-1258
-
(1992)
Mol Endocrinol
, vol.6
, pp. 1249-1258
-
-
Lala, D.S.1
Rice, D.A.2
Parker, K.L.3
-
16
-
-
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
-
17
-
-
0029827345
-
Linkage of the gene for the triple a syndrome to chromosome 12q13 near the type II keratin gene cluster
-
Weber A, Wienker TF, Jung M, Easton D, Dean HJ, Heinrichs C, Reis A & Clark AJL. Linkage of the gene for the triple A syndrome to chromosome 12q13 near the type II keratin gene cluster. Human Molecular Genetics 5:2061-2066
-
Human Molecular Genetics
, vol.5
, pp. 2061-2066
-
-
Weber, A.1
Wienker, T.F.2
Jung, M.3
Easton, D.4
Dean, H.J.5
Heinrichs, C.6
Reis, A.7
Clark, A.J.L.8
|