-
1
-
-
0032252404
-
Activating mutations of the Gs alpha gene are associated with low levels of Gs alpha protein in growth hormone-secreting tumors
-
Ballare E, Mantovani S, Lania A, Di Blasio AM, Vallar L, Spada A. Activating mutations of the Gs alpha gene are associated with low levels of Gs alpha protein in growth hormone-secreting tumors. J Clin Endocrinol Metab 1998; 83: 4386-4390.
-
(1998)
J Clin Endocrinol Metab
, vol.83
, pp. 4386-4390
-
-
Ballare, E.1
Mantovani, S.2
Lania, A.3
Di Blasio, A.M.4
Vallar, L.5
Spada, A.6
-
2
-
-
0038721027
-
Molecular and functional analysis of PRKAR1A and its locus (17q22-24) in sporadic adrenocortical tumors: 17 q losses, somatic mutations, and protein kinase A expression and activity
-
Bertherat J, Groussin L, Sandrini F, Matyakhina L, Bei T, Stergiopoulos S, Papageorgioo T, Bourdeau I, Kirschner LS, Vincent-Dejean C, Perlemoine K, Gicquel C, Bertagna X, Stratakis CA. Molecular and functional analysis of PRKAR1A and its locus (17q22-24) in sporadic adrenocortical tumors: 17 q losses, somatic mutations, and protein kinase A expression and activity. Canc Res 2003; 63: 5308-5319
-
(2003)
Canc Res
, vol.63
, pp. 5308-5319
-
-
Bertherat, J.1
Groussin, L.2
Sandrini, F.3
Matyakhina, L.4
Bei, T.5
Stergiopoulos, S.6
Papageorgioo, T.7
Bourdeau, I.8
Kirschner, L.S.9
Vincent-Dejean, C.10
Perlemoine, K.11
Gicquel, C.12
Bertagna, X.13
Stratakis, C.A.14
-
3
-
-
18544406892
-
Mutations in the protein kinase a R1 alpha regulatory subunit cause familial myxomas and Carney complex
-
Casey M, Vaughan CJ, He J, Hatcher CJ, Winter JM, Weremowicz S, Montgomery K, Kucherlapati R, Morton CC, Basson CT. Mutations in the protein kinase A R1 alpha regulatory subunit cause familial myxomas and Carney complex. J Clin Invest 2000; 106: R31-R38
-
(2000)
J Clin Invest
, vol.106
-
-
Casey, M.1
Vaughan, C.J.2
He, J.3
Hatcher, C.J.4
Winter, J.M.5
Weremowicz, S.6
Montgomery, K.7
Kucherlapati, R.8
Morton, C.C.9
Basson, C.T.10
-
4
-
-
0038030796
-
Cushing's syndrome secondary to adrenocorticotropin-independent macronodular adrenocortical hyperplasia due to activating mutations of GNAS1 gene
-
Fragoso MC, Domenice S, Latronico AC, Martin RM, Pereira MA, Zerbini MC, Lucon AM, Mendonca BB: Cushing's syndrome secondary to adrenocorticotropin- independent macronodular adrenocortical hyperplasia due to activating mutations of GNAS1 gene. J Clin Endocrinol Metab 2003; 885: 2147-2151
-
(2003)
J Clin Endocrinol Metab
, vol.885
, pp. 2147-2151
-
-
Fragoso, M.C.1
Domenice, S.2
Latronico, A.C.3
Martin, R.M.4
Pereira, M.A.5
Zerbini, M.C.6
Lucon, A.M.7
Mendonca, B.B.8
-
5
-
-
18644370689
-
Sequence analysis of the PRKAR1A gene in sporadic somatotroph and other pituitary tumours
-
Kaltsas GA, Kola B, Borboli N, Morris DG, Gueorguiev M, Swords FM, Czirjak S, Kirschner LS, Stratakis CA, Korbonits M, Grossman AB. Sequence analysis of the PRKAR1A gene in sporadic somatotroph and other pituitary tumours. Clin Endocrinol 2002; 57: 443-448
-
(2002)
Clin Endocrinol
, vol.57
, pp. 443-448
-
-
Kaltsas, G.A.1
Kola, B.2
Borboli, N.3
Morris, D.G.4
Gueorguiev, M.5
Swords, F.M.6
Czirjak, S.7
Kirschner, L.S.8
Stratakis, C.A.9
Korbonits, M.10
Grossman, A.B.11
-
6
-
-
0033812849
-
Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex
-
Kirschner LS, Carney JA, Pack SD, Taymans SE, Giatzakis C, Cho YS, Cho-Chung YS, Stratakis CA. Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex. Nat Genet 2000a; 26: 89-92
-
(2000)
Nat Genet
, vol.26
, pp. 89-92
-
-
Kirschner, L.S.1
Carney, J.A.2
Pack, S.D.3
Taymans, S.E.4
Giatzakis, C.5
Cho, Y.S.6
Cho-Chung, Y.S.7
Stratakis, C.A.8
-
7
-
-
0034642302
-
Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the Carney complex
-
Kirschner LS, Sandrini F, Monbo J, Lin JP, Carney JA, Stratakis CA. Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the Carney complex. Hum Mol Genet 2000b; 9: 3037-3046
-
(2000)
Hum Mol Genet
, vol.9
, pp. 3037-3046
-
-
Kirschner, L.S.1
Sandrini, F.2
Monbo, J.3
Lin, J.P.4
Carney, J.A.5
Stratakis, C.A.6
-
8
-
-
0033623508
-
Mutation analysis of Gs alpha, adrenocorticotropin receptor and p53 genes in patients with adrenocortical neoplasms: Including a case of Gs alpha mutation
-
Kobayashi H, Usui T, Fukata J, Yoshimasa T, Oki Y, Nakao K. Mutation analysis of Gs alpha, adrenocorticotropin receptor and p53 genes in patients with adrenocortical neoplasms: including a case of Gs alpha mutation. Endocr J 2000; 47: 461-466
-
(2000)
Endocr J
, vol.47
, pp. 461-466
-
-
Kobayashi, H.1
Usui, T.2
Fukata, J.3
Yoshimasa, T.4
Oki, Y.5
Nakao, K.6
-
9
-
-
0028246862
-
ACTH-independent massive bilateral adrenal disease (AIMBAD): A subtype of Cushing's syndrome
-
Lieberman SA, Eccleshall TR, Feldman D. ACTH-independent massive bilateral adrenal disease (AIMBAD): a subtype of Cushing's syndrome. Eur J Endocrinol 1994; 131: 67-73
-
(1994)
Eur J Endocrinol
, vol.131
, pp. 67-73
-
-
Lieberman, S.A.1
Eccleshall, T.R.2
Feldman, D.3
-
10
-
-
0036736814
-
Mutations of the PRKAR1A gene in Cushing's sindrome due to sporadic primary pigmented nodular adrenocortical disease
-
Lionel G, Jullian E, Perlemoine K, Louvel A, Leheup B, Luton JP, Bertagna X, Bertherat J. Mutations of the PRKAR1A gene in Cushing's sindrome due to sporadic primary pigmented nodular adrenocortical disease. J Clin Endocrinol Metab 2002; 87: 4324-4329
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 4324-4329
-
-
Lionel, G.1
Jullian, E.2
Perlemoine, K.3
Louvel, A.4
Leheup, B.5
Luton, J.P.6
Bertagna, X.7
Bertherat, J.8
-
11
-
-
0034527616
-
Mutational analysis of GNAS1 in patients with pseudohypoparathyroidism: Identification of two novel mutations
-
Mantovani G, Romoli R, Weber G, Brunelli V, De Menis E, Beccio S, Beck-Peccoz P, Spada A. Mutational analysis of GNAS1 in patients with pseudohypoparathyroidism: identification of two novel mutations. J Clin Endocrinol Metab 2000; 85: 4243-4248
-
(2000)
J Clin Endocrinol Metab
, vol.85
, pp. 4243-4248
-
-
Mantovani, G.1
Romoli, R.2
Weber, G.3
Brunelli, V.4
De Menis, E.5
Beccio, S.6
Beck-Peccoz, P.7
Spada, A.8
-
12
-
-
0036771614
-
The Gsα gene: Predominant maternal origin of transcription in human thyroid gland and gonads
-
Mantovani G, Ballare E, Giammona E, Beck-Peccoz P, Spada A. The Gsα gene: predominant maternal origin of transcription in human thyroid gland and gonads. J Clin Endocrinol Metab 2002; 87: 4736-4740
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 4736-4740
-
-
Mantovani, G.1
Ballare, E.2
Giammona, E.3
Beck-Peccoz, P.4
Spada, A.5
-
13
-
-
0036886062
-
PRKAR1A, one of the Carney complex genes, and its locus (17q22-24) are rarely altered in pituitary tumours outside the Carney complex
-
Sandrini F, Kirschner LS, Bei T, Farmakidis C, Yasufuku-Takano J, Takano K, Prezant TR, Marx SJ, Farrel WE, Clayton RN, Groussin L, Bertherat J, Stratakis CA. PRKAR1A, one of the Carney complex genes, and its locus (17q22-24) are rarely altered in pituitary tumours outside the Carney complex. J Med Genet 2002; 39: e78
-
(2002)
J Med Genet
, vol.39
-
-
Sandrini, F.1
Kirschner, L.S.2
Bei, T.3
Farmakidis, C.4
Yasufuku-Takano, J.5
Takano, K.6
Prezant, T.R.7
Marx, S.J.8
Farrel, W.E.9
Clayton, R.N.10
Groussin, L.11
Bertherat, J.12
Stratakis, C.A.13
-
14
-
-
0037331680
-
Clinical and molecular genetics of Carney complex
-
Sandrini F, Stratakis CA. Clinical and molecular genetics of Carney complex. Mol Genet Metab 2003; 78: 83-92
-
(2003)
Mol Genet Metab
, vol.78
, pp. 83-92
-
-
Sandrini, F.1
Stratakis, C.A.2
-
15
-
-
0030986161
-
Primary pigmented nodular adrenocortical disease: Reevaluation of a patient with Carney complex 27 years after unilateral adrenalectomy
-
Sarlis NJ, Chrousos JP, Doppman JL, Carney JA, Stratakis CA. Primary pigmented nodular adrenocortical disease: reevaluation of a patient with Carney complex 27 years after unilateral adrenalectomy. J Clin Endocrinol Metab 1997; 82: 1274-1278
-
(1997)
J Clin Endocrinol Metab
, vol.82
, pp. 1274-1278
-
-
Sarlis, N.J.1
Chrousos, J.P.2
Doppman, J.L.3
Carney, J.A.4
Stratakis, C.A.5
-
16
-
-
0032697639
-
Paradoxical response to dexamethasone in the diagnosis of primari pigmented nodular adrenocortical disease
-
Stratakis CA, Sarlis N, Kirschner LS, Carney JA, Doppman JL, Nieman LK, Chrousos GP, Papanicolaou DA. Paradoxical response to dexamethasone in the diagnosis of primari pigmented nodular adrenocortical disease. Ann Intern Med 1999; 131: 585-591
-
(1999)
Ann Intern Med
, vol.131
, pp. 585-591
-
-
Stratakis, C.A.1
Sarlis, N.2
Kirschner, L.S.3
Carney, J.A.4
Doppman, J.L.5
Nieman, L.K.6
Chrousos, G.P.7
Papanicolaou, D.A.8
-
17
-
-
0034853288
-
Clinical and molecular features of the Carney complex: Diagnostic criteria and recommendations for patient evaluation
-
Stratakis CA, Kirschner LS, Carney JA. Clinical and molecular features of the Carney complex: diagnostic criteria and recommendations for patient evaluation. J Clin Endocrinol Metab 2001; 86: 4041-4046
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 4041-4046
-
-
Stratakis, C.A.1
Kirschner, L.S.2
Carney, J.A.3
-
18
-
-
0024443691
-
Primary pigmented nodular adrenocortical disease. A light and electron microscopic study of eight cases
-
Travis WD, Tsokos M, Doppman JL, Nieman L, Chrousos GP, Cutler Jr GB, Loriaux DL, Norton JA. Primary pigmented nodular adrenocortical disease. A light and electron microscopic study of eight cases. Am J Surg Pathol 1989; 13: 921-930
-
(1989)
Am J Surg Pathol
, vol.13
, pp. 921-930
-
-
Travis, W.D.1
Tsokos, M.2
Doppman, J.L.3
Nieman, L.4
Chrousos, G.P.5
Cutler Jr., G.B.6
Loriaux, D.L.7
Norton, J.A.8
-
19
-
-
0026003074
-
Activating mutations of the stimulatory G protein in the McCune-Albright syndrome
-
Weinstein LS, Shenker A, Gejman P, Marino MJ, Friedman E, Spiegel AM. Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. New Engl J Med 1991; 325: 1688-1695
-
(1991)
New Engl J Med
, vol.325
, pp. 1688-1695
-
-
Weinstein, L.S.1
Shenker, A.2
Gejman, P.3
Marino, M.J.4
Friedman, E.5
Spiegel, A.M.6
-
20
-
-
0037380199
-
GH-secreting pituitary adenomas infrequently contain inactivating mutations of PRKAR1A and LOH of 17q23-24
-
Yamasaki H, Mizusawa N, Nagahiro S, Yamada S, Sano T, Itakura M, Yoshimoto K. GH-secreting pituitary adenomas infrequently contain inactivating mutations of PRKAR1A and LOH of 17q23-24. Clin Endocrinol 2003; 58: 464-470
-
(2003)
Clin Endocrinol
, vol.58
, pp. 464-470
-
-
Yamasaki, H.1
Mizusawa, N.2
Nagahiro, S.3
Yamada, S.4
Sano, T.5
Itakura, M.6
Yoshimoto, K.7
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