-
1
-
-
0031044662
-
The molecular basis of disorders caused by defects in G proteins
-
Spiegel AM. The molecular basis of disorders caused by defects in G proteins. Horm Res 1997; 47: 89-96.
-
(1997)
Horm. Res.
, vol.47
, pp. 89-96
-
-
Spiegel, A.M.1
-
2
-
-
0034752247
-
The stimulatory G protein α-subunit gene: Mutations and imprinting lead to complex phenotypes
-
Weinstein L. The stimulatory G protein α-subunit gene: mutations and imprinting lead to complex phenotypes. J Clin Endocrinol Metab 2001; 86: 4622-4626.
-
(2001)
J. Clin. Endocrinol. Metab.
, vol.86
, pp. 4622-4626
-
-
Weinstein, L.1
-
3
-
-
0027482950
-
s
-
s. J Pediatr 1993; 123: 509-518.
-
(1993)
J. Pediatr.
, vol.123
, pp. 509-518
-
-
Shenker, A.1
Weinstein, L.S.2
Moran, A.3
Pescovitz, O.H.4
Charest, N.J.5
Boney, C.M.6
Van Wyk, J.J.7
Merino, M.J.8
Feuillan, P.P.9
Spiegel, A.M.10
-
4
-
-
0026003074
-
Activating mutations of the stimulatory G protein in the McCune-Albright syndrome
-
Weinstein LS, Shenker A, Gejman PV, Merino MJ, Friedman E, Speigel AM. Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. N Engl J Med 1991; 325: 1688-1695.
-
(1991)
N. Engl. J. Med.
, vol.325
, pp. 1688-1695
-
-
Weinstein, L.S.1
Shenker, A.2
Gejman, P.V.3
Merino, M.J.4
Friedman, E.5
Speigel, A.M.6
-
5
-
-
12944253120
-
McCune-Albright syndrome: A longitudinal clinical study of 32 patients
-
de Sanctis C, Lala R, Matarazzo P, Balsamo A, Bergamaschi R, Cappa M, Cisternino M, de Sanctis V, Lucci M, Franzese A, Ghizzoni L, Pasquino M, Segni M, Rigon F, Saggese G, Bertelloni S, Buzi F. McCune-Albright syndrome: a longitudinal clinical study of 32 patients. J Pediatr Endocrinol Metab 1999; 12: 817-826.
-
(1999)
J. Pediatr. Endocrinol. Metab.
, vol.12
, pp. 817-826
-
-
de Sanctis, C.1
Lala, R.2
Matarazzo, P.3
Balsamo, A.4
Bergamaschi, R.5
Cappa, M.6
Cisternino, M.7
de Sanctis, V.8
Lucci, M.9
Franzese, A.10
Ghizzoni, L.11
Pasquino, M.12
Segni, M.13
Rigon, F.14
Saggese, G.15
Bertelloni, S.16
Buzi, F.17
-
6
-
-
0027491797
-
Long term testolactone therapy for precocious puberty in girls with the McCune-Albright syndrome
-
Feuillan PP, Jones J, Cutler GB. Long term testolactone therapy for precocious puberty in girls with the McCune-Albright syndrome. J Clin Endocrinol Metab 1993; 77: 647-651.
-
(1993)
J. Clin. Endocrinol. Metab.
, vol.77
, pp. 647-651
-
-
Feuillan, P.P.1
Jones, J.2
Cutler, G.B.3
-
7
-
-
0030976121
-
La sindrome di McCune Albright: Osservazioni cliniche e terapeutiche
-
Lala R, Matarazzo P, Sciolla A, Picciotto G, de Sanctis C. La sindrome di McCune Albright: osservazioni cliniche e terapeutiche. It J Pediatr 1997; 23: 25-31.
-
(1997)
It. J. Pediatr.
, vol.23
, pp. 25-31
-
-
Lala, R.1
Matarazzo, P.2
Sciolla, A.3
Picciotto, G.4
de Sanctis, C.5
-
9
-
-
0000821313
-
Pseudohypoparathyroidism: An example of "Seabright-Bantam syndrome"
-
Albright F, Burnett CH, Smith PH. Pseudohypoparathyroidism: an example of "Seabright-Bantam syndrome". Endocrinology 1942; 30: 922-932.
-
(1942)
Endocrinology
, vol.30
, pp. 922-932
-
-
Albright, F.1
Burnett, C.H.2
Smith, P.H.3
-
10
-
-
0018904371
-
Defect of receptor-cyclase coupling protein in pseuodohypoparathyroidism
-
Farfel Z, Brickman AS, Kaslow HR, Brothers VM, Bourne HR. Defect of receptor-cyclase coupling protein in pseuodohypoparathyroidism. N Engl J Med 1980; 303: 237-242.
-
(1980)
N. Engl. J. Med.
, vol.303
, pp. 237-242
-
-
Farfel, Z.1
Brickman, A.S.2
Kaslow, H.R.3
Brothers, V.M.4
Bourne, H.R.5
-
11
-
-
0020627955
-
Resistance to multiple hormones in patients with pseudohypoparathyroidism. Association with deficient activity of guanine nucleotide regulatory protein
-
Levine MA, Downs RW Jr, Moses AM, Breslau NA, Marx SJ, Lasker RD, Rizzoli RE, Aurbach GD, Spiegel AM. Resistance to multiple hormones in patients with pseudohypoparathyroidism. Association with deficient activity of guanine nucleotide regulatory protein. Am J Med 1983; 74: 545-556.
-
(1983)
Am. J. Med.
, vol.74
, pp. 545-556
-
-
Levine, M.A.1
Downs Jr., R.W.2
Moses, A.M.3
Breslau, N.A.4
Marx, S.J.5
Lasker, R.D.6
Rizzoli, R.E.7
Aurbach, G.D.8
Spiegel, A.M.9
-
12
-
-
0017809406
-
Partial gonadotrophin-resistance in pseudohypparathyroidism
-
Wolfsdorf JI, Rosenfield RL, Fang VS, Kobayashi R, Razdan AK, Kim MH. Partial gonadotrophin-resistance in pseudohypparathyroidism. Acta Endocrinol 1978; 88: 321-328.
-
(1978)
Acta Endocrinol.
, vol.88
, pp. 321-328
-
-
Wolfsdorf, J.I.1
Rosenfield, R.L.2
Fang, V.S.3
Kobayashi, R.4
Razdan, A.K.5
Kim, M.H.6
-
13
-
-
0026079186
-
Pseudohypoparathyroidism, its phenotypic variability and associated disorders in a large family
-
Faull CM, Welbury RR, Paul B, Kendall-Taylor P. Pseudohypoparathyroidism, its phenotypic variability and associated disorders in a large family. Q J Med 1991; 78: 251-264.
-
(1991)
Q J. Med.
, vol.78
, pp. 251-264
-
-
Faull, C.M.1
Welbury, R.R.2
Paul, B.3
Kendall-Taylor, P.4
-
15
-
-
0141923212
-
Diagnosis of pseudohypoparathyroidism (PHP) Ia and pseudoPHP with GNAS1 gene analysis
-
(Abst)
-
de Sanctis L, Maghnie M, Scirè G, Greggio N, Buzi F, Grosso S, Baroncelli GI, Crinò A, de Sanctis C. Diagnosis of pseudohypoparathyroidism (PHP) Ia and pseudoPHP with GNAS1 gene analysis. J Pediatr Endocrinol Metab 2001; 14: 1191 (Abst).
-
(2001)
J. Pediatr. Endocrinol. Metab.
, vol.14
, pp. 1191
-
-
de Sanctis, L.1
Maghnie, M.2
Scirè, G.3
Greggio, N.4
Buzi, F.5
Grosso, S.6
Baroncelli, G.I.7
Crinò, A.8
de Sanctis, C.9
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