-
1
-
-
0000821313
-
Pseudohypoparathyroidism - An example of "Seabright-Bantam syndrome"
-
Albright F, Burnett CH, Smith PH, Parson W 1942 Pseudohypoparathyroidism - an example of "Seabright-Bantam syndrome". Endocrinology 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
-
-
0034793851
-
Endocrine manifestations of stimulatory G protein α-subunit mutations and the role of genomic imprinting
-
Weinstein LS, Yu S, Warner DR, Liu J 2001 Endocrine manifestations of stimulatory G protein α-subunit mutations and the role of genomic imprinting. Endocr Rev 22:675-705
-
(2001)
Endocr Rev
, vol.22
, pp. 675-705
-
-
Weinstein, L.S.1
Yu, S.2
Warner, D.R.3
Liu, J.4
-
3
-
-
0005371412
-
Pseudohypoparathyroidism
-
Bilezikian JP, Raisz LG, Rodan GA, eds. New York: Academic Press
-
Levine MA 2002 Pseudohypoparathyroidism. In: Bilezikian JP, Raisz LG, Rodan GA, eds. Principles of bone biology. New York: Academic Press; 1137-1163
-
(2002)
Principles of Bone Biology
, pp. 1137-1163
-
-
Levine, M.A.1
-
4
-
-
0023937364
-
Multiple associated endocrine abnormalities in a patient with pseudohypoparathyroidism type 1a
-
Shima M, Nose O, Shimizu K, Seino Y, Yabuuchi H, Saito T 1988 Multiple associated endocrine abnormalities in a patient with pseudohypoparathyroidism type 1a. Eur J Pediatr 147:536-538
-
(1988)
Eur J Pediatr
, vol.147
, pp. 536-538
-
-
Shima, M.1
Nose, O.2
Shimizu, K.3
Seino, Y.4
Yabuuchi, H.5
Saito, T.6
-
5
-
-
0034756288
-
A case of pseudohypoparathyroidism type Ia complicated with growth hormone deficiency: Recovery of growth hormone secretion after vitamin D therapy
-
Kaji M, Umeda K, Ashida M, Tajima T 2001 A case of pseudohypoparathyroidism type Ia complicated with growth hormone deficiency: recovery of growth hormone secretion after vitamin D therapy. Eur J Pediatr 160:679-681
-
(2001)
Eur J Pediatr
, vol.160
, pp. 679-681
-
-
Kaji, M.1
Umeda, K.2
Ashida, M.3
Tajima, T.4
-
6
-
-
0029113971
-
Pseudohypoparathyroidism type Ia and growth hormone deficiency in two siblings
-
Scott DC, Hung W 1995 Pseudohypoparathyroidism type Ia and growth hormone deficiency in two siblings. J Pediatr Endocrinol Metab 8:205-207
-
(1995)
J Pediatr Endocrinol Metab
, vol.8
, pp. 205-207
-
-
Scott, D.C.1
Hung, W.2
-
7
-
-
0036216343
-
Abnormal pentagastrin response in a patient with pseudohypoparathyroidism
-
Zwermann O, Piepkorn B, Engelbach M, Beyer J, Kann P 2002 Abnormal pentagastrin response in a patient with pseudohypoparathyroidism. Exp Clin Endocrinol Diabetes 110:86-91
-
(2002)
Exp Clin Endocrinol Diabetes
, vol.110
, pp. 86-91
-
-
Zwermann, O.1
Piepkorn, B.2
Engelbach, M.3
Beyer, J.4
Kann, P.5
-
8
-
-
0034913954
-
Pseudohypoparathyroidism Ia and hypercalcitoninemia
-
Vlaeminck-Guillem V, D'Herbomez M, Pigny P, Fayard A, Bauters C, Decoulx M, Wemeau JL 2001 Pseudohypoparathyroidism Ia and hypercalcitoninemia. J Clin Endocrinol Metab 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
-
9
-
-
0035013623
-
Paternal uniparental isodisomy of chromosome 20q (patUPD20q)-and the resulting changes in GNAS1 methylation-as a plausible cause of pseudohypoparathyroidism
-
Bastepe M, Lane AH, Jüppner H 2001 Paternal uniparental isodisomy of chromosome 20q (patUPD20q)-and the resulting changes in GNAS1 methylation-as a plausible cause of pseudohypoparathyroidism. Am J Hum Genet 68:1283-1289
-
(2001)
Am J Hum Genet
, vol.68
, pp. 1283-1289
-
-
Bastepe, M.1
Lane, A.H.2
Jüppner, H.3
-
10
-
-
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, Jüppner H 2001 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 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
Jüppner, H.10
-
11
-
-
0141857714
-
sα is imprinted in human thyroid glands: Implications for thyroid function in pseudohypoparathyroidism types 1A and 1B
-
sα is imprinted in human thyroid glands: implications for thyroid function in pseudohypoparathyroidism types 1A and 1B. J Clin Endocrinol Metab 88: 4336-4341.
-
(2003)
J Clin Endocrinol Metab
, vol.88
, pp. 4336-4341
-
-
Liu, J.1
Erlichman, B.2
Weinstein, L.S.3
-
13
-
-
0028143011
-
Parental origin of Gsα gene mutations in Albright's hereditary osteodystrophy
-
Wilson LC, Oude-Luttikhuis MEM, Clayton PT, Fraser WD, Trembath RC 1994 Parental origin of Gsα gene mutations in Albright's hereditary osteodystrophy. J Med Genet 31:835-839
-
(1994)
J Med Genet
, vol.31
, pp. 835-839
-
-
Wilson, L.C.1
Oude-Luttikhuis, M.E.M.2
Clayton, P.T.3
Fraser, W.D.4
Trembath, R.C.5
-
14
-
-
0027399429
-
Imprinting in Albright's hereditary osteodystrophy
-
Davies AJ, Hughes HE 1993 Imprinting in Albright's hereditary osteodystrophy. J Med Genet 30:101-103
-
(1993)
J Med Genet
, vol.30
, pp. 101-103
-
-
Davies, A.J.1
Hughes, H.E.2
-
15
-
-
0141846433
-
The paternally imprinted autosomal dominant form of pseudohypoparathyroidism type-Ib is associated with a 2998-bp deletion centromeric of GNAS1
-
Minneapolis, MN, Abstract OR46-2
-
Bastepe M, Fröhlich F, Jüppner H, The paternally imprinted autosomal dominant form of pseudohypoparathyroidism type-Ib is associated with a 2998-bp deletion centromeric of GNAS1. Proc 25th Annual Meeting of the American Society for Bone and Mineral Research, Minneapolis, MN, 2003, p 123 (Abstract OR46-2)
-
(2003)
Proc 25th Annual Meeting of the American Society for Bone and Mineral Research
, pp. 123
-
-
Bastepe, M.1
Fröhlich, F.2
Jüppner, H.3
-
16
-
-
0002038659
-
Introduction to G-protein-coupled signal transduction and human disease
-
Spiegel AM, ed. Totowa, NJ: Humana Press
-
Spiegel AM 1998 Introduction to G-protein-coupled signal transduction and human disease. In: Spiegel AM, ed. G proteins, receptors, and disease. Totowa, NJ: Humana Press; 1-21
-
(1998)
G Proteins, Receptors, and Disease
, pp. 1-21
-
-
Spiegel, A.M.1
-
17
-
-
0020627955
-
Resistance to multiple hormones in patients with pseudohypoparathyroidism. Association with deficient activity of guanine nucleotide regulatory protein
-
Levine MA, Downs Jr RW, Moses AM, Breslau NA, Marx SJ, Lasker RD, Rizzoli RE, Aurbach GD, Spiegel AM 1983 Resistance to multiple hormones in patients with pseudohypoparathyroidism. Association with deficient activity of guanine nucleotide regulatory protein. Am J Med 74:545-556
-
(1983)
Am J Med
, vol.74
, pp. 545-556
-
-
Levine, M.A.1
Downs R.W., Jr.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
-
19
-
-
0020593894
-
Blunted plasma cyclic adenosine monophosphate response to isoproterenol in pseudohypoparathyroidism
-
Carlson HE, Brickman AS 1983 Blunted plasma cyclic adenosine monophosphate response to isoproterenol in pseudohypoparathyroidism. J Clin Endocrinol Metab 56:1323-1326
-
(1983)
J Clin Endocrinol Metab
, vol.56
, pp. 1323-1326
-
-
Carlson, H.E.1
Brickman, A.S.2
-
20
-
-
0028068226
-
Parental origin of transcription from the human GNAS1 gene
-
Campbell R, Gosden CM, Bonthron DT 1994 Parental origin of transcription from the human GNAS1 gene. J Med Genet 31:607-614
-
(1994)
J Med Genet
, vol.31
, pp. 607-614
-
-
Campbell, R.1
Gosden, C.M.2
Bonthron, D.T.3
-
21
-
-
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 1998 The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteins. Proc Natl Acad Sci USA 95:10038-10043
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 10038-10043
-
-
Hayward, B.1
Kamiya, M.2
Strain, L.3
Moran, V.4
Campbell, R.5
Hayashizaki, Y.6
Bonthron, D.T.7
-
22
-
-
0032433682
-
Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins
-
Hayward BE, Moran V, Strain L, Bonthron DT 1998 Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins. Proc Natl Acad Sci USA 95:15475-15480
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 15475-15480
-
-
Hayward, B.E.1
Moran, V.2
Strain, L.3
Bonthron, D.T.4
-
23
-
-
0034740058
-
Gαs transcripts are biallelically expressed in the human kidney cortex: Implications for pseudohypoparathyroidism type Ib
-
Zheng H, Radeva G, McCann JA, Hendy GN, Goodyer CG 2001 Gαs transcripts are biallelically expressed in the human kidney cortex: implications for pseudohypoparathyroidism type Ib. J Clin Endocrinol Metab 86:4627-4629
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 4627-4629
-
-
Zheng, H.1
Radeva, G.2
McCann, J.A.3
Hendy, G.N.4
Goodyer, C.G.5
-
24
-
-
0033616719
-
A cluster of oppositely imprinted transcripts at the Gnas locus in the distal imprinting region of mouse chromosome 2
-
Peters J, Wroe SF, Wells CA, Miller HJ, Bodle D, Beechey CV, Williamson CM, Kelsey G 1999 A cluster of oppositely imprinted transcripts at the Gnas locus in the distal imprinting region of mouse chromosome 2. Proc Natl Acad Sci USA 96:3830-3835
-
(1999)
Proc Natl Acad Sci USA
, vol.96
, pp. 3830-3835
-
-
Peters, J.1
Wroe, S.F.2
Wells, C.A.3
Miller, H.J.4
Bodle, D.5
Beechey, C.V.6
Williamson, C.M.7
Kelsey, G.8
-
25
-
-
0028670789
-
XLαs is a new type of G protein
-
Erratum (1995) 375:253
-
Kehlenbach RH, Matthey J, Huttner WB 1994 XLαs is a new type of G protein [Erratum (1995) 375:253]. Nature 372:804-809
-
(1994)
Nature
, vol.372
, pp. 804-809
-
-
Kehlenbach, R.H.1
Matthey, J.2
Huttner, W.B.3
-
26
-
-
0030998512
-
Molecular cloning and characterization of NESP55, a novel chromogranin-like precursor of a peptide with 5-HT1B receptor antagonist activity
-
Ischia R, Lovisetti-Scamihorn P, Hogue-Angeletti R, Wolkersdorfer M, Winkler H, Fischer-Colbrie R 1997 Molecular cloning and characterization of NESP55, a novel chromogranin-like precursor of a peptide with 5-HT1B receptor antagonist activity. J Biol Chem 272:11657-11662
-
(1997)
J Biol Chem
, vol.272
, pp. 11657-11662
-
-
Ischia, R.1
Lovisetti-Scamihorn, P.2
Hogue-Angeletti, R.3
Wolkersdorfer, M.4
Winkler, H.5
Fischer-Colbrie, R.6
-
27
-
-
0025814814
-
Differential expression of novel Gs α signal transduction protein cDNA species
-
Swaroop A, Agarwal N, Gruen JR, Bick D, Weissman SM 1991 Differential expression of novel Gs α signal transduction protein cDNA species. Nucleic Acids Res 19:4725-4729
-
(1991)
Nucleic Acids Res
, vol.19
, pp. 4725-4729
-
-
Swaroop, A.1
Agarwal, N.2
Gruen, J.R.3
Bick, D.4
Weissman, S.M.5
-
28
-
-
0033865243
-
Identification of a methylation imprint mark within the mouse gnas locus
-
Liu J, Yu S, Litman D, Chen W, Weinstein L 2000 Identification of a methylation imprint mark within the mouse gnas locus. Mol Cell Biol 20:5808-5817
-
(2000)
Mol Cell Biol
, vol.20
, pp. 5808-5817
-
-
Liu, J.1
Yu, S.2
Litman, D.3
Chen, W.4
Weinstein, L.5
-
30
-
-
0034701294
-
An imprinted antisense transcript at the human GNAS1 locus
-
Hayward B, Bonthron D 2000 An imprinted antisense transcript at the human GNAS1 locus. Hum Mol Genet 9:835-841
-
(2000)
Hum Mol Genet
, vol.9
, pp. 835-841
-
-
Hayward, B.1
Bonthron, D.2
-
31
-
-
0034724290
-
An imprinted transcript, antisense to Nesp, adds complexity to the cluster of imprinted genes at the mouse Gnas locus
-
Wroe SF, Kelsey G, Skinner JA, Bodle D, Ball ST, Beechey CV, Peters J, Willlamson CM 2000 An imprinted transcript, antisense to Nesp, adds complexity to the cluster of imprinted genes at the mouse Gnas locus. Proc Natl Acad Sci USA 97:3342-3346
-
(2000)
Proc Natl Acad Sci USA
, vol.97
, pp. 3342-3346
-
-
Wroe, S.F.1
Kelsey, G.2
Skinner, J.A.3
Bodle, D.4
Ball, S.T.5
Beechey, C.V.6
Peters, J.7
Willlamson, C.M.8
-
32
-
-
0034331227
-
Tissue-specific expression of antisense and sense transcripts at the imprinted Gnas locus
-
Li T, Vu TH, Zeng ZL, Nguyen BT, Hayward BE, Bonthron DT, Hu JF, Hoffman AR 2000 Tissue-specific expression of antisense and sense transcripts at the imprinted Gnas locus. Genomics 69:295-304
-
(2000)
Genomics
, vol.69
, pp. 295-304
-
-
Li, T.1
Vu, T.H.2
Zeng, Z.L.3
Nguyen, B.T.4
Hayward, B.E.5
Bonthron, D.T.6
Hu, J.F.7
Hoffman, A.R.8
-
33
-
-
0032555241
-
sα gene
-
sα gene. Proc Natl Acad Sci USA 95:8715-8720
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 8715-8720
-
-
Yu, S.1
Yu, D.2
Lee, E.3
Eckhaus, M.4
Lee, R.5
Corria, Z.6
Accili, D.7
Westphal, H.8
Weinstein, L.S.9
-
34
-
-
0035106246
-
Imprinting of the G(s)α gene GNAS1 in the pathogenesis of acromegaly
-
Hayward BE, Barlier A, Korbonits M, Grossman AB, Jacquet P, Enjalbert A, Bonthron DT 2001 Imprinting of the G(s)α gene GNAS1 in the pathogenesis of acromegaly. J Clin Invest 107:R31-R36
-
(2001)
J Clin Invest
, vol.107
-
-
Hayward, B.E.1
Barlier, A.2
Korbonits, M.3
Grossman, A.B.4
Jacquet, P.5
Enjalbert, A.6
Bonthron, D.T.7
-
35
-
-
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 2002 The Gsα gene: predominant maternal origin of transcription in human thyroid gland and gonads. J Clin Endocrinol Metab 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
-
36
-
-
0035982094
-
Paternal imprinting of Gα(s) in the human thyroid as the basis of TSH resistance in pseudohypoparathyroidism type 1a
-
Germain-Lee EL, Ding CL, Deng Z, Crane JL, Saji M, Ringel MD, Levine MA 2002 Paternal imprinting of Gα(s) in the human thyroid as the basis of TSH resistance in pseudohypoparathyroidism type 1a. Biochem Biophys Res Commun 296:67-72
-
(2002)
Biochem Biophys Res Commun
, vol.296
, pp. 67-72
-
-
Germain-Lee, E.L.1
Ding, C.L.2
Deng, Z.3
Crane, J.L.4
Saji, M.5
Ringel, M.D.6
Levine, M.A.7
-
37
-
-
0026079186
-
Pseudohypoparathyroidism: Its phenotypic variability and associated disorders in a large family
-
Faull CM, Welbury RR, Paul B, Kendall-Taylor P 1991 Pseudohypoparathyroidism: its phenotypic variability and associated disorders in a large family. Q J Med 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
-
38
-
-
0141857716
-
Growth hormone-releasing hormone resistance in pseudohypoparathyroidism type Ia: New evidence for imprinting of the Gsα gene
-
Mantovani G, Maghnie M, Weber G, De Menis E, Brunelli V, Cappa M, Loli P, Beck-Peccoz P, Spada A 2003 Growth hormone-releasing hormone resistance in pseudohypoparathyroidism type Ia: new evidence for imprinting of the Gsα gene. J Clin Endocrinol Metab 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
-
39
-
-
0141606268
-
Growth hormone deficiency in pseudohypoparathyroidism type 1a: Another manifestation of multihormone resistance
-
Germain-Lee EL, Groman J, Crane JL, Jan de Beur SM, Levine MA 2003 Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multihormone resistance. J Clin Endocrinology Metab 88: 4059-4069
-
(2003)
J Clin Endocrinology Metab
, vol.88
, pp. 4059-4069
-
-
Germain-Lee, E.L.1
Groman, J.2
Crane, J.L.3
Jan De Beur, S.M.4
Levine, M.A.5
-
40
-
-
0024418886
-
Deficient erythrocyte membrane Gs α activity and resistance to trophic hormones of multiple endocrine organs in two cases of pseudohypoparathyroidism
-
Tsai KS, Chang CC, Wu DJ, Huang TS, Tsai IH, Chen FW 1989 Deficient erythrocyte membrane Gs α activity and resistance to trophic hormones of multiple endocrine organs in two cases of pseudohypoparathyroidism. Taiwan Yi Xue Hui Za Zhi 88:450-455
-
(1989)
Taiwan Yi Xue Hui Za Zhi
, vol.88
, pp. 450-455
-
-
Tsai, K.S.1
Chang, C.C.2
Wu, D.J.3
Huang, T.S.4
Tsai, I.H.5
Chen, F.W.6
-
41
-
-
0034721880
-
Characterization of the extra-large G protein α-subunit XLαs. I. Tissue distribution and subcellular localization
-
Pasolli H, Klemke M, Kehlenbach R, Wang Y, Huttner W 2000 Characterization of the extra-large G protein α-subunit XLαs. I. Tissue distribution and subcellular localization. J Biol Chem 275:33622-33632
-
(2000)
J Biol Chem
, vol.275
, pp. 33622-33632
-
-
Pasolli, H.1
Klemke, M.2
Kehlenbach, R.3
Wang, Y.4
Huttner, W.5
-
42
-
-
0036020511
-
Receptor-mediated adenylyl cyclase activation through XLαs, the extra-large variant of the stimulatory G protein α-subunit
-
Bastepe M, Gunes Y, Perez-Villamil B, Hunzelman J, Weinstein LS, Jüppner H 2002 Receptor-mediated adenylyl cyclase activation through XLαs, the extra-large variant of the stimulatory G protein α-subunit. Mol Endocrinol 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
Jüppner, H.6
-
43
-
-
0034752247
-
The stimulatory G protein α-subunit gene: Mutations and imprinting lead to complex phenotypes
-
Weinstein LS 2001 The stimulatory G protein α-subunit gene: mutations and imprinting lead to complex phenotypes. J Clin Endocrinol Metab 86:4622-4626
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 4622-4626
-
-
Weinstein, L.S.1
-
44
-
-
0033762171
-
A GNAS1 imprinting defect in pseudohypoparathyroidism type IB
-
Liu J, Litman D, Rosenberg M, Yu S, Biesecker L, Weinstein L 2000 A GNAS1 imprinting defect in pseudohypoparathyroidism type IB. J Clin Invest 106: 1167-1174
-
(2000)
J Clin Invest
, vol.106
, pp. 1167-1174
-
-
Liu, J.1
Litman, D.2
Rosenberg, M.3
Yu, S.4
Biesecker, L.5
Weinstein, L.6
|