-
1
-
-
0000821313
-
Pseudo-hypoparathyroidism - An example of Seabright-Bantam syndrome
-
Albright F, Burnett CH, Smith PH, Parson W. Pseudo-hypoparathyroidism - 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
Parson, W.4
-
2
-
-
0014593627
-
Pseudohypoparathyroidism: Defective excretion of 3′-5′-AMP in response to parathyroid hormone
-
Chase LR, Melson GL, Aurbach GD. Pseudohypoparathyroidism: defective excretion of 3′-5′-AMP in response to parathyroid hormone. J Clin Invest 1969; 48: 1832-1844.
-
(1969)
J Clin Invest
, vol.48
, pp. 1832-1844
-
-
Chase, L.R.1
Melson, G.L.2
Aurbach, G.D.3
-
4
-
-
0032544019
-
The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteins
-
Hayward B, Kamiya M, Strain L, Moran V, Campbell R, Hayashizaki Y, Bonthron DT. The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteins. Proc Natl Acad Sci USA 1998; 95: 10038-10045.
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 10038-10045
-
-
Hayward, B.1
Kamiya, M.2
Strain, L.3
Moran, V.4
Campbell, R.5
Hayashizaki, Y.6
Bonthron, D.T.7
-
5
-
-
0035057062
-
Imprints of disease at GNAS1
-
Lalande M. Imprints of disease at GNAS1. J Clin Invest 2001; 107: 793-794.
-
(2001)
J Clin Invest
, vol.107
, pp. 793-794
-
-
Lalande, M.1
-
6
-
-
0034752247
-
Editorial: The stimulatory G protein α-subunit gene: Mutations and imprinting lead to complex phenotypes
-
Weinstein LS. Editorial: 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.S.1
-
8
-
-
0036020511
-
Receptor-mediated adenylyl-cyclase activation through X1αs, the extra-large variant of the stimulatory G protein α-subunit
-
Bastepe M, Gunes Y, Perez-Villamil B, Hunzelman J, Weinstein LS, Juppner H. Receptor-mediated adenylyl-cyclase activation through X1αs, the extra-large variant of the stimulatory G protein α-subunit. Mol Endocrinol 2002; 16: 1912-1919.
-
(2002)
Mol Endocrinol
, vol.16
, pp. 1912-1919
-
-
Bastepe, M.1
Gunes, Y.2
Perez-Villamil, B.3
Hunzelman, J.4
Weinstein, L.S.5
Juppner, H.6
-
10
-
-
2942562178
-
s protein, is significantly longer than suspected, and so is its companion Alex
-
s protein, is significantly longer than suspected, and so is its companion Alex. Proc Natl Acad Sci USA 2004; 101: 8366-8371.
-
(2004)
Proc Natl Acad Sci USA
, vol.101
, pp. 8366-8371
-
-
Abramowitz, J.1
Grenet, D.2
Birnbaumer, M.3
Torres, H.N.4
Birnbaumer, L.5
-
11
-
-
11244289338
-
Secretion and molecular forms of NESP55, a novel genomically imprinted neuroendocrine-specific protein from AtT-20 cells
-
Eder S, Leierer J, Klimaschewski L, Wilhelm A, Volknandt W, Laslop A, Fischer-Colbrie R. Secretion and molecular forms of NESP55, a novel genomically imprinted neuroendocrine-specific protein from AtT-20 cells. Neurosignals 2004; 13: 298-307.
-
(2004)
Neurosignals
, vol.13
, pp. 298-307
-
-
Eder, S.1
Leierer, J.2
Klimaschewski, L.3
Wilhelm, A.4
Volknandt, W.5
Laslop, A.6
Fischer-Colbrie, R.7
-
12
-
-
0038265925
-
NESP55, a novel chromogranin-like peptide, is expressed in endocrine tumors of the pancreas and adrenal medulla but not in ileal carcinoids
-
Jacobsen AM, Ahlman H, Kolby L, Abrahamsson J, Fischer-Colbrie R, Nilsson O. NESP55, a novel chromogranin-like peptide, is expressed in endocrine tumors of the pancreas and adrenal medulla but not in ileal carcinoids. Br J Cancer 2003; 2: 1746-1754.
-
(2003)
Br J Cancer
, vol.2
, pp. 1746-1754
-
-
Jacobsen, A.M.1
Ahlman, H.2
Kolby, L.3
Abrahamsson, J.4
Fischer-Colbrie, R.5
Nilsson, O.6
-
13
-
-
0029041620
-
Pseudohypoparathyroidism type Ib is not caused by mutations in the coding exons of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene
-
Schipani E, Weinstein LS, Bergwitz C, Iida-Klein A, Kong XF, Stuhrmann M, Kruse K, Whyte MP, Murray T, Schmidtke J. Pseudohypoparathyroidism type Ib is not caused by mutations in the coding exons of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene. J Clin Endocrinol Metab 1995; 80: 1611-1621.
-
(1995)
J Clin Endocrinol Metab
, vol.80
, pp. 1611-1621
-
-
Schipani, E.1
Weinstein, L.S.2
Bergwitz, C.3
Iida-Klein, A.4
Kong, X.F.5
Stuhrmann, M.6
Kruse, K.7
Whyte, M.P.8
Murray, T.9
Schmidtke, J.10
-
14
-
-
13144250154
-
The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3
-
Juppner H, Schipani E, Bastepe M, Cole DEC, Lawson ML, Mannstadt M, Hendy GN, Plotkin H, Koshiyama H, Koh T, Crawford JD, Olsen BR, Vikkula M. The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3. Proc Natl Acad Sci USA 1998; 95: 11798-11803.
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 11798-11803
-
-
Juppner, H.1
Schipani, E.2
Bastepe, M.3
Cole, D.E.C.4
Lawson, M.L.5
Mannstadt, M.6
Hendy, G.N.7
Plotkin, H.8
Koshiyama, H.9
Koh, T.10
Crawford, J.D.11
Olsen, B.R.12
Vikkula, M.13
-
17
-
-
0033762171
-
A GNAS1 imprinting defect in pseudohypoparathyroidism type Ib
-
Liu J, Litman D, Rosenberg MJ, Yu S, Biesecker LG, Weinstein LS. A GNAS1 imprinting defect in pseudohypoparathyroidism type Ib. J Clin Invest 2000; 106: 1167-1174.
-
(2000)
J Clin Invest
, vol.106
, pp. 1167-1174
-
-
Liu, J.1
Litman, D.2
Rosenberg, M.J.3
Yu, S.4
Biesecker, L.G.5
Weinstein, L.S.6
-
18
-
-
0035013623
-
Paternal uniparental isodisomy of chromosome 20q - And the resulting changes in GNAS1 methylation - As a plausible cause of pseudohypoparathyroidism
-
Bastepe M, Lane AH, Juppner H. Paternal uniparental isodisomy of chromosome 20q - and the resulting changes in GNAS1 methylation - as a plausible cause of pseudohypoparathyroidism. Am J Hum Genet 2001; 68: 1283-1289.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 1283-1289
-
-
Bastepe, M.1
Lane, A.H.2
Juppner, H.3
-
19
-
-
0042165833
-
Discordance between genetic and epigenetic defects in pseudohypoparathyroidism type 1b revealed by inconsistent loss of maternal imprinting at GNAS1
-
Jan de Beur SJ, Ding C, Germain-Lee E, Cho J, Maret A, Levine MA. Discordance between genetic and epigenetic defects in pseudohypoparathyroidism type 1b revealed by inconsistent loss of maternal imprinting at GNAS1. Am J Hum Genet 2003; 73: 314-322.
-
(2003)
Am J Hum Genet
, vol.73
, pp. 314-322
-
-
Jan de Beur, S.J.1
Ding, C.2
Germain-Lee, E.3
Cho, J.4
Maret, A.5
Levine, M.A.6
-
20
-
-
0035362592
-
Positional dissociation between the genetic mutation responsible for pseudohypoparathyroidism type Ib and the associated methylation defect at exon A/B: Evidence for a long-range regulatory element within the imprinted GNAS1 locus
-
Bastepe M, Pincus JE, Sugimoto T, Tojo K, Kanatani M, Azuma Y, Kruse K, Rosenbloom AL, Koshiyama H, Juppner H. Positional dissociation between the genetic mutation responsible for pseudohypoparathyroidism type Ib and the associated methylation defect at exon A/B: evidence for a long-range regulatory element within the imprinted GNAS1 locus. Hum Mol Genet 2001; 10: 1231-1241.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 1231-1241
-
-
Bastepe, M.1
Pincus, J.E.2
Sugimoto, T.3
Tojo, K.4
Kanatani, M.5
Azuma, Y.6
Kruse, K.7
Rosenbloom, A.L.8
Koshiyama, H.9
Juppner, H.10
-
21
-
-
9144266313
-
Autosomal dominant pseudo-hypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS
-
Bastepe M, Frolich LF, Hendy GN, Indridason OS, Josse RG, Koshiyama H, Korkko J, Nakamoto JM, Rosenbloom AL, Slyper AH, Sugimoto T, Tsatsoulis A, Crawford JD, Juppner H. Autosomal dominant pseudo-hypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS. J Clin Invest 2003; 112: 1255-1263.
-
(2003)
J Clin Invest
, vol.112
, pp. 1255-1263
-
-
Bastepe, M.1
Frolich, L.F.2
Hendy, G.N.3
Indridason, O.S.4
Josse, R.G.5
Koshiyama, H.6
Korkko, J.7
Nakamoto, J.M.8
Rosenbloom, A.L.9
Slyper, A.H.10
Sugimoto, T.11
Tsatsoulis, A.12
Crawford, J.D.13
Juppner, H.14
-
22
-
-
11244353640
-
Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib
-
Bastepe M, Frolich LF, Linglart A, Abu-Zahra HS, Tojo K, Ward LM, Juppner H. Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib. Nat Genet 2005; 37: 25-27.
-
(2005)
Nat Genet
, vol.37
, pp. 25-27
-
-
Bastepe, M.1
Frolich, L.F.2
Linglart, A.3
Abu-Zahra, H.S.4
Tojo, K.5
Ward, L.M.6
Juppner, H.7
-
23
-
-
0027210606
-
Heterogeneous mutations in the gene encoding the alpha-subunit of the stimulatory G protein of adenylyl cyclase in Albright hereditary osteodystrophy
-
Miric A, Vechio JD, Levine MA. Heterogeneous mutations in the gene encoding the alpha-subunit of the stimulatory G protein of adenylyl cyclase in Albright hereditary osteodystrophy. J Clin Endocrinol Metab 1993; 76: 1560-1568.
-
(1993)
J Clin Endocrinol Metab
, vol.76
, pp. 1560-1568
-
-
Miric, A.1
Vechio, J.D.2
Levine, M.A.3
-
24
-
-
0033855731
-
Activating and inactivating mutations in the human GNAS1 gene
-
Aldred MA, Trembath RC. Activating and inactivating mutations in the human GNAS1 gene. Hum Mutat 2000; 16: 183-189.
-
(2000)
Hum Mutat
, vol.16
, pp. 183-189
-
-
Aldred, M.A.1
Trembath, R.C.2
-
25
-
-
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
-
26
-
-
0034748804
-
Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy
-
Ahrens W, Hiort O, Staedt P, Kirschner T, Marschke C, Kruse K. Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy. J Clin Endocrinol Metab 2001; 86: 4630-4634.
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 4630-4634
-
-
Ahrens, W.1
Hiort, O.2
Staedt, P.3
Kirschner, T.4
Marschke, C.5
Kruse, K.6
-
27
-
-
0037404623
-
Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism
-
de Sanctis L, Romagnolo D, Olivero M, Buzi F, Maghnie M, Scire G, Crino A, Baroncelli GI, Salerno M, di Maio S, Cappa M, Grosso S, Rigon F, Lala R, de Sanctis C, Dianzani I. Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism. Pediatr Res 2003; 53: 749-755.
-
(2003)
Pediatr Res
, vol.53
, pp. 749-755
-
-
de Sanctis, L.1
Romagnolo, D.2
Olivero, M.3
Buzi, F.4
Maghnie, M.5
Scire, G.6
Crino, A.7
Baroncelli, G.I.8
Salerno, M.9
di Maio, S.10
Cappa, M.11
Grosso, S.12
Rigon, F.13
Lala, R.14
de Sanctis, C.15
Dianzani, I.16
-
28
-
-
0007406646
-
s as the molecular basis for Albright hereditary osteodystrophy
-
s as the molecular basis for Albright hereditary osteodystrophy. Proc Natl Acad Sci USA 1988; 85: 617-621.
-
(1988)
Proc Natl Acad Sci USA
, vol.85
, pp. 617-621
-
-
Levine, M.A.1
Ahn, T.G.2
Klupt, S.F.3
Kaufman, K.D.4
Smallwood, P.M.5
Bourne, H.R.6
Sullivan, K.A.7
Van Dop, C.8
-
29
-
-
0037159459
-
Constitutional deletion of chromosome 20q in two patients affected with Albright hereditary osteodystrophy
-
Aldred MA, Aftimos S, Hall C, Waters KS, Thakker RV, Trembath RC, Brueton L. Constitutional deletion of chromosome 20q in two patients affected with Albright hereditary osteodystrophy. Am J Med Genet 2002; 113: 167-172.
-
(2002)
Am J Med Genet
, vol.113
, pp. 167-172
-
-
Aldred, M.A.1
Aftimos, S.2
Hall, C.3
Waters, K.S.4
Thakker, R.V.5
Trembath, R.C.6
Brueton, L.7
-
30
-
-
0022655674
-
Activity of the stimulatory guanine nucleotide-binding protein is reduced in erythrocytes from patients with pseudohypoparathyroidism and pseudopseudo-hypoparathyroidism: Biochemical, endocrine, and genetic analysis of Albright's hereditary osteodystrophy in six kindreds
-
Levine MA, Jap TS, Mauseth RS, Downs RW, Spiegel AM. Activity of the stimulatory guanine nucleotide-binding protein is reduced in erythrocytes from patients with pseudohypoparathyroidism and pseudopseudo-hypoparathyroidism: biochemical, endocrine, and genetic analysis of Albright's hereditary osteodystrophy in six kindreds. J Clin Endocrinol Metab 1986; 62: 497-502.
-
(1986)
J Clin Endocrinol Metab
, vol.62
, pp. 497-502
-
-
Levine, M.A.1
Jap, T.S.2
Mauseth, R.S.3
Downs, R.W.4
Spiegel, A.M.5
-
32
-
-
0033815587
-
Pseudohypoparathyroidism. New insights into an old disease
-
Bastepe M, Juppner H. Pseudohypoparathyroidism. New insights into an old disease. Endocrinol Metab Clin North Am 2000; 29: 569-589.
-
(2000)
Endocrinol Metab Clin North Am
, vol.29
, pp. 569-589
-
-
Bastepe, M.1
Juppner, H.2
-
33
-
-
0027399429
-
Imprinting in, Albright's hereditary osteodystrophy
-
Davies SJ, Hughes HE. Imprinting in, Albright's hereditary osteodystrophy. J Med Genet 1993; 30: 101-103.
-
(1993)
J Med Genet
, vol.30
, pp. 101-103
-
-
Davies, S.J.1
Hughes, H.E.2
-
34
-
-
0036148298
-
GNAS1 lesions in pseudohypoparathyroidism Ia and Ic: Genotype phenotype relationship and evidence of the maternal transmission of the hormonal resistance
-
Linglart A, Carel JC, Garabedian M, Le T, Mallet E, Kottler ML. GNAS1 lesions in pseudohypoparathyroidism Ia and Ic: genotype phenotype relationship and evidence of the maternal transmission of the hormonal resistance. J Clin Endocrinol Metab 2002; 87: 189-197.
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 189-197
-
-
Linglart, A.1
Carel, J.C.2
Garabedian, M.3
Le, T.4
Mallet, E.5
Kottler, M.L.6
-
35
-
-
0019309715
-
Deficient activity of guanine nucleotide regulatory protein in erythrocytes from patients with pseudohypoparathyroidism
-
Levine MA, Downs RW Jr, Singer M, Marx SJ, Aurbach GD, Spiegel AM. Deficient activity of guanine nucleotide regulatory protein in erythrocytes from patients with pseudohypoparathyroidism. Biochem Biophys Res Commun 1980; 94: 1319-1324.
-
(1980)
Biochem Biophys Res Commun
, vol.94
, pp. 1319-1324
-
-
Levine, M.A.1
Downs Jr., R.W.2
Singer, M.3
Marx, S.J.4
Aurbach, G.D.5
Spiegel, A.M.6
-
36
-
-
0020325841
-
Pseudohypoparathyroidism: The molecular basis for hormone resistance-a retrospective study
-
Spiegel AM, Levine MA, Marx SJ, Aurbach GD. Pseudohypoparathyroidism: the molecular basis for hormone resistance-a retrospective study. N Engl J Med 1982; 307: 679-681.
-
(1982)
N Engl J Med
, vol.307
, pp. 679-681
-
-
Spiegel, A.M.1
Levine, M.A.2
Marx, S.J.3
Aurbach, G.D.4
-
37
-
-
17844406661
-
GNAS locus and pseudohypoparathyroidism
-
Bastepe M, Juppner H. GNAS locus and pseudohypoparathyroidism. Horm Res 2005; 63: 65-74.
-
(2005)
Horm Res
, vol.63
, pp. 65-74
-
-
Bastepe, M.1
Juppner, H.2
-
38
-
-
0036932905
-
Albright's hereditary osteodystrophy and pseudohypoparathyroidism
-
Wilson LC, Hall CM. Albright's hereditary osteodystrophy and pseudohypoparathyroidism. Semin Musculoskelet Radiol 2002; 6: 273-283.
-
(2002)
Semin Musculoskelet Radiol
, vol.6
, pp. 273-283
-
-
Wilson, L.C.1
Hall, C.M.2
-
39
-
-
1942473082
-
Brachydactyly in 14 genetically characterized pseudohypoparathyroidism type Ia patients
-
de Sanctis L, Vai S, Andreo MR, Romagnolo D, Silvestro L, de Sanctis C. Brachydactyly in 14 genetically characterized pseudohypoparathyroidism type Ia patients. J Clin Endocrinol Metab 2004; 89: 1650-1655.
-
(2004)
J Clin Endocrinol Metab
, vol.89
, pp. 1650-1655
-
-
de Sanctis, L.1
Vai, S.2
Andreo, M.R.3
Romagnolo, D.4
Silvestro, L.5
de Sanctis, C.6
-
40
-
-
0141606268
-
Growth hormone deficiency in pseudohypoparathyroidism type Ia: Another manifestation of multihormone resistance
-
Germain-Lee EL, Groman J, Crane JL, Jan de Beur S, Levine MA. Growth hormone deficiency in pseudohypoparathyroidism type Ia: another manifestation of multihormone resistance. J Clin Endocrinol Metab 2003; 88: 4059-4069.
-
(2003)
J Clin Endocrinol Metab
, vol.88
, pp. 4059-4069
-
-
Germain-Lee, E.L.1
Groman, J.2
Crane, J.L.3
Jan de Beur, S.4
Levine, M.A.5
-
41
-
-
0141857716
-
Growth hormone-releasing hormone resistance in pseudohypoparathyroidism type Ia: New evidence for imprinting of the Gs alpha gene
-
Mantovani G, Maghnie M, Weber G, De Menis E, Brunelli V, Cappa M, Loli P, Beck-Peccoz P, Spada A. Growth hormone-releasing hormone resistance in pseudohypoparathyroidism type Ia: new evidence for imprinting of the Gs alpha gene. J Clin Endocrinol Metab 2003; 88: 4070-4074.
-
(2003)
J Clin Endocrinol Metab
, vol.88
, pp. 4070-4074
-
-
Mantovani, G.1
Maghnie, M.2
Weber, G.3
De Menis, E.4
Brunelli, V.5
Cappa, M.6
Loli, P.7
Beck-Peccoz, P.8
Spada, A.9
-
42
-
-
6944221426
-
Stimulatory G protein directly regulates hypertrophic differentiation of growth plate cartilage in vivo
-
Bastepe M, Weinstein LS, Ogata N, Kawaguchi H, Juppner H, Kronenberg HM, Chung UI. Stimulatory G protein directly regulates hypertrophic differentiation of growth plate cartilage in vivo. Proc Natl Acad Sci USA 2004; 101: 14794-14799.
-
(2004)
Proc Natl Acad Sci USA
, vol.101
, pp. 14794-14799
-
-
Bastepe, M.1
Weinstein, L.S.2
Ogata, N.3
Kawaguchi, H.4
Juppner, H.5
Kronenberg, H.M.6
Chung, U.I.7
-
43
-
-
10344231982
-
sα gene in human bone and adipose tissue
-
sα gene in human bone and adipose tissue. J Clin Endocrinol Metab 2004; 89: 6316-6319.
-
(2004)
J Clin Endocrinol Metab
, vol.89
, pp. 6316-6319
-
-
Mantovani, G.1
Bondioni, S.2
Locatelli, M.3
Pedroni, C.4
Lania, A.G.5
Ferrante, E.6
Filopanti, M.7
Beck-Peccoz, P.8
Spada, A.9
-
44
-
-
0037162114
-
GNAS1 mutations and progressive osseous heteroplasia
-
Ahmed SF, Barr DG, Bonthron DT. GNAS1 mutations and progressive osseous heteroplasia. N Engl J Med 2002; 346: 1669-1671.
-
(2002)
N Engl J Med
, vol.346
, pp. 1669-1671
-
-
Ahmed, S.F.1
Barr, D.G.2
Bonthron, D.T.3
-
45
-
-
0037050365
-
Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia
-
Shore EM, Ahn J, Jan de Beur S, Li M, Xu M, Gardner RJ, Zasloff MA, Whyte MP, Levine MA, Kaplan FS. Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia. N Engl J Med 2002; 346: 99-106.
-
(2002)
N Engl J Med
, vol.346
, pp. 99-106
-
-
Shore, E.M.1
Ahn, J.2
Jan de Beur, S.3
Li, M.4
Xu, M.5
Gardner, R.J.6
Zasloff, M.A.7
Whyte, M.P.8
Levine, M.A.9
Kaplan, F.S.10
-
46
-
-
0035236965
-
Pseudohypoparathyroidism type IA and II with severe neuropsychic manifestations
-
Kutilek S, Kabicek P, Nedvidkova J, Bayer M. Pseudohypoparathyroidism type IA and II with severe neuropsychic manifestations. Turk J Pediatr 2001; 43: 70-75.
-
(2001)
Turk J Pediatr
, vol.43
, pp. 70-75
-
-
Kutilek, S.1
Kabicek, P.2
Nedvidkova, J.3
Bayer, M.4
-
47
-
-
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
-
48
-
-
0034913954
-
Pseudohypoparathyroidism Ia and hypercalcitoninemia
-
Vlaeminck-Guillem V, d'Herbomez M, Pigny P, Fayard A, Bauters C, Decoulx M, Wemeau JL. Pseudohypoparathyroidism Ia and hypercalcitoninemia. J Clin Endocrinol Metab 2001; 86: 3091-3096.
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 3091-3096
-
-
Vlaeminck-Guillem, V.1
d'Herbomez, M.2
Pigny, P.3
Fayard, A.4
Bauters, C.5
Decoulx, M.6
Wemeau, J.L.7
-
51
-
-
0018828273
-
Skeletal responsiveness in pseudohypoparathyroidism. A spectrum of clinical disease
-
Kidd GS, Schaaf M, Adler RA, Lassman MN, Wray HL. Skeletal responsiveness in pseudohypoparathyroidism. A spectrum of clinical disease. Am J Med 1980; 68: 772-781.
-
(1980)
Am J Med
, vol.68
, pp. 772-781
-
-
Kidd, G.S.1
Schaaf, M.2
Adler, R.A.3
Lassman, M.N.4
Wray, H.L.5
-
52
-
-
0020554370
-
Evidence for bone remodeling but lack of calcium mobilization response to parathyroid hormone in pseudohypoparathyroidism
-
Breslau NA, Moses AM, Pak CY. Evidence for bone remodeling but lack of calcium mobilization response to parathyroid hormone in pseudohypoparathyroidism. J Clin Endocrinol Metab 1983; 57: 638-644.
-
(1983)
J Clin Endocrinol Metab
, vol.57
, pp. 638-644
-
-
Breslau, N.A.1
Moses, A.M.2
Pak, C.Y.3
-
53
-
-
0021927650
-
Pseudohypoparathyroidism type Ia presenting as congenital hypothyroidism
-
Weisman Y, Golancer A, Spirer Z, Farfel Z. Pseudohypoparathyroidism type Ia presenting as congenital hypothyroidism. J Pediatr 1985; 107: 413-415.
-
(1985)
J Pediatr
, vol.107
, pp. 413-415
-
-
Weisman, Y.1
Golancer, A.2
Spirer, Z.3
Farfel, Z.4
-
54
-
-
17744386745
-
Early manifestation of calcinosis cutis in pseudohypoparathyroidism type Ia associated with a novel mutation in the GNAS gene
-
Riepe FG, Ahrens W, Krone N, Folster-Holst R, Brasch J, Sippell WG, Hiort O, Partsch CJ. Early manifestation of calcinosis cutis in pseudohypoparathyroidism type Ia associated with a novel mutation in the GNAS gene. Eur J Endocrinol 2005; 152: 515-519.
-
(2005)
Eur J Endocrinol
, vol.152
, pp. 515-519
-
-
Riepe, F.G.1
Ahrens, W.2
Krone, N.3
Folster-Holst, R.4
Brasch, J.5
Sippell, W.G.6
Hiort, O.7
Partsch, C.J.8
-
55
-
-
0030817589
-
Clinical and biological heterogeneity in pseudohypoparathyroidism syndrome. Results of a multicenter study
-
Marguet C, Mallet E, Basuyau JP, Martin D, Leroy M, Brunelle P. Clinical and biological heterogeneity in pseudohypoparathyroidism syndrome. Results of a multicenter study. Horm Res 1997; 48: 120-130.
-
(1997)
Horm Res
, vol.48
, pp. 120-130
-
-
Marguet, C.1
Mallet, E.2
Basuyau, J.P.3
Martin, D.4
Leroy, M.5
Brunelle, P.6
-
57
-
-
0041777710
-
Pubertal development in patients with McCune-Albright syndrome or pseudohypoparathyroidism
-
de Sanctis C, Lala R, Matarazzo P, Andreo M, de Sanctis L. Pubertal development in patients with McCune-Albright syndrome or pseudohypoparathyroidism. J Pediatr Endocrinol Metab 2003; 16 (Suppl 2): 293-296.
-
(2003)
J Pediatr Endocrinol Metab
, vol.16
, Issue.SUPPL. 2
, pp. 293-296
-
-
de Sanctis, C.1
Lala, R.2
Matarazzo, P.3
Andreo, M.4
de Sanctis, L.5
-
58
-
-
33745260468
-
Different mutations within or upstream of the GNAS locus cause distinct forms of pseudohypoparathyroidism
-
Jüppner H, Bastepe M. Different mutations within or upstream of the GNAS locus cause distinct forms of pseudohypoparathyroidism. J Pediatr Endocrinol Metab 2006; 19 (Suppl 2): 641-646.
-
(2006)
J Pediatr Endocrinol Metab
, vol.19
, Issue.SUPPL. 2
, pp. 641-646
-
-
Jüppner, H.1
Bastepe, M.2
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