-
2
-
-
13944270307
-
Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2
-
Metherell LA, Chapple JP, Cooray S, David A, Becker C, Ruschendorf F, Naville D, Begeot M, Khoo B, N̈nberg P, Huebner A, Cheetham ME, Clark AJ. Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2. Nat Genet 2005;37:166-170.
-
(2005)
Nat Genet
, vol.37
, pp. 166-170
-
-
Metherell, L.A.1
Chapple, J.P.2
Cooray, S.3
David, A.4
Becker, C.5
Ruschendorf, F.6
Naville, D.7
Begeot, M.8
Khoo, B.9
N̈nberg, P.10
Huebner, A.11
Cheetham, M.E.12
Clark, A.J.13
-
3
-
-
21244480582
-
Primary adrenal insufficiency in children: Twenty years experience at the Sainte-Justine Hospital, Montreal
-
Perry R, Kecha O, Paquette J, Huot C, Van Vliet G, Deal C. Primary adrenal insufficiency in children: twenty years experience at the Sainte-Justine Hospital, Montreal. Journal of Clinical Endocrinology and Metabolism 2005;90:3243-3250.
-
(2005)
Journal of Clinical Endocrinology and Metabolism
, vol.90
, pp. 3243-3250
-
-
Perry, R.1
Kecha, O.2
Paquette, J.3
Huot, C.4
van Vliet, G.5
Deal, C.6
-
5
-
-
77954427740
-
Primary adrenal failure due to viral infection in an infant
-
Akn L, Kurtoglu S, Kendirci M, Akn MA, Kardas F. Primary adrenal failure due to viral infection in an infant. Eur J Pediatr 2010;169:887-889.
-
(2010)
Eur J Pediatr
, vol.169
, pp. 887-889
-
-
Akin, L.1
Kurtoglu, S.2
Kendirci, M.3
Akn, M.A.4
Kardas, F.5
-
6
-
-
34347210358
-
Differential regulation of the human adrenocorticotropin receptor [melanocortin-2 receptor (MC2R)] by human MC2R accessory protein isoforms alpha and beta in isogenic human embryonic kidney 293 cells
-
Roy S, Rached M, Gallo-Payet N. Differential regulation of the human adrenocorticotropin receptor [melanocortin-2 receptor (MC2R)] by human MC2R accessory protein isoforms alpha and beta in isogenic human embryonic kidney 293 cells. Molecular Endocrinology 2007;21:1656-1669.
-
(2007)
Molecular Endocrinology
, vol.21
, pp. 1656-1669
-
-
Roy, S.1
Rached, M.2
Gallo-Payet, N.3
-
7
-
-
38349045440
-
Familial Glucocorticoid Deficiency: Advances in the Molecular Understanding of ACTH Action
-
Chan LF, Clark AJL, Metherell LA. Familial Glucocorticoid Deficiency: Advances in the Molecular Understanding of ACTH Action. Horm Res 2008;69:75-82.
-
(2008)
Horm Res
, vol.69
, pp. 75-82
-
-
Chan, L.F.1
Clark, A.J.L.2
Metherell, L.A.3
-
8
-
-
0034800415
-
Syndrome of congenital adrenocortical unresponsiveness to ACTH. Report of six patients
-
Berberoglu M, Aycan Z, Ocal G, Begeot M, Naville D, Akar N, Adiyaman P, Evliyaoglu O, Penhoat A. Syndrome of congenital adrenocortical unresponsiveness to ACTH. Report of six patients. J Pediatr Endocrinol Metab 2001;14:1113-1118.
-
(2001)
J Pediatr Endocrinol Metab
, vol.14
, pp. 1113-1118
-
-
Berberoglu, M.1
Aycan, Z.2
Ocal, G.3
Begeot, M.4
Naville, D.5
Akar, N.6
Adiyaman, P.7
Evliyaoglu, O.8
Penhoat, A.9
-
9
-
-
33749557842
-
Unusual presentation of familial glucocorticoid deficiency (FGD) with a novel MRAP mutation
-
Modan-Moses D, Ben Zeev B, Hoffmann C, Falik-Zaccai TC, Bental YA, Pinhas-Hamiel O, Anikster Y. Unusual presentation of familial glucocorticoid deficiency (FGD) with a novel MRAP mutation. J Clin Endocrinol Metab 2006;91:3713-3717.
-
(2006)
J Clin Endocrinol Metab
, vol.91
, pp. 3713-3717
-
-
Modan-Moses, D.1
Ben Zeev, B.2
Hoffmann, C.3
Falik-Zaccai, T.C.4
Bental, Y.A.5
Pinhas-Hamiel, O.6
Anikster, Y.7
-
10
-
-
0030996897
-
Diminished adrenal androgen secretion in familial glucocorticoid deficiency implicates a significant role for ACTH in the induction of adrenarche
-
Weber A, Clark AJ, Perry LA, Honour JW, Savage MO. Diminished adrenal androgen secretion in familial glucocorticoid deficiency implicates a significant role for ACTH in the induction of adrenarche. Clin Endocrinol (Oxf) 1997;46:431-437.
-
(1997)
Clin Endocrinol (Oxf)
, vol.46
, pp. 431-437
-
-
Weber, A.1
Clark, A.J.2
Perry, L.A.3
Honour, J.W.4
Savage, M.O.5
-
11
-
-
0033794585
-
Tall stature in familial glucocorticoid deficiency
-
Elias LL, Huebner A, Metherell LA, Canas A, Warne GL, Bitti ML, Cianfarani S, Clayton PE, Savage MO, Clark AJ. Tall stature in familial glucocorticoid deficiency. Clin Endocrinol (Oxf) 2000;53:423-430.
-
(2000)
Clin Endocrinol (Oxf)
, vol.53
, pp. 423-430
-
-
Elias, L.L.1
Huebner, A.2
Metherell, L.A.3
Canas, A.4
Warne, G.L.5
Bitti, M.L.6
Cianfarani, S.7
Clayton, P.E.8
Savage, M.O.9
Clark, A.J.10
-
12
-
-
0032238826
-
Adrenocorticotropin insensitivity syndromes
-
Clark AJ, Weber A. Adrenocorticotropin insensitivity syndromes. Endocr Rev 1998;19:828-843.
-
(1998)
Endocr Rev
, vol.19
, pp. 828-843
-
-
Clark, A.J.1
Weber, A.2
-
13
-
-
13944272719
-
Possible relationship between elevated plasma ACTH and tall stature in familial glucocorticoid deficiency
-
Imamine H, Mizuno H, Sugiyama Y, Ohro Y, Sugiura T, Togari H. Possible relationship between elevated plasma ACTH and tall stature in familial glucocorticoid deficiency. Tohoku J Exp Med 2005;205:123-131.
-
(2005)
Tohoku J Exp Med
, vol.205
, pp. 123-131
-
-
Imamine, H.1
Mizuno, H.2
Sugiyama, Y.3
Ohro, Y.4
Sugiura, T.5
Togari, H.6
-
14
-
-
20944434906
-
Multiple melanocortin receptors are expressed in bone cells
-
Zhong Q, Sridhar S, Ruan L, Ding KH, Xie D, Insogna K, Kang B, Xu J, Bollag RJ, Isales CM. Multiple melanocortin receptors are expressed in bone cells. Bone 2005;36:820-831.
-
(2005)
Bone
, vol.36
, pp. 820-831
-
-
Zhong, Q.1
Sridhar, S.2
Ruan, L.3
Ding, K.H.4
Xie, D.5
Insogna, K.6
Kang, B.7
Xu, J.8
Bollag, R.J.9
Isales, C.M.10
-
15
-
-
67650296377
-
Homozygous nonsense and frameshift mutations of the ACTH receptor in children with familial glucocorticoid deficiency (FGD) are not associated with long-term mineralocorticoid deficiency
-
Chan LF, Metherell LA, Krude H, Ball C, O'Riordan SM, Costigan C, Lynch SA, Savage MO, Cavarzere P, Clark AJ. Homozygous nonsense and frameshift mutations of the ACTH receptor in children with familial glucocorticoid deficiency (FGD) are not associated with long-term mineralocorticoid deficiency. Clin Endocrinol (Oxf) 2009;71:171-175.
-
(2009)
Clin Endocrinol (Oxf)
, vol.71
, pp. 171-175
-
-
Chan, L.F.1
Metherell, L.A.2
Krude, H.3
Ball, C.4
O'Riordan, S.M.5
Costigan, C.6
Lynch, S.A.7
Savage, M.O.8
Cavarzere, P.9
Clark, A.J.10
|