-
1
-
-
0000821313
-
Pseudohypoparathyroidism - An example of 'Seabright Bantam syndrome'
-
Albright, F., Burnett, C.H., Smith, P.H. & 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
-
-
0000914962
-
Pseudopseudohypoparathyroidism
-
Albright, F., Forbes, A.P. & Henneman, P.H. (1952) Pseudopseudohypoparathyroidism. Transactions of the Association of American Physicians, 65, 337-350.
-
(1952)
Transactions of the Association of American Physicians
, vol.65
, pp. 337-350
-
-
Albright, F.1
Forbes, A.P.2
Henneman, P.H.3
-
3
-
-
17344363260
-
Characterisation of mutations in patients with multiple endocrine neoplasia type 1
-
Bassett, J.H.D., Forbes, S.A., Pannett, A.A.J., Lloyd, S.E., Christie, P.T., Wooding, C., Harding, B., Besser, G.M., Edwards, C.R., Monson, J.P., Sampson, J., Woss, J.A.H., Wheeler, M.H. & Thakker, R.V. (1998) Characterisation of mutations in patients with multiple endocrine neoplasia type 1. American Journal of Human Genetics, 62, 232-244.
-
(1998)
American Journal of Human Genetics
, vol.62
, pp. 232-244
-
-
Bassett, J.H.D.1
Forbes, S.A.2
Pannett, A.A.J.3
Lloyd, S.E.4
Christie, P.T.5
Wooding, C.6
Harding, B.7
Besser, G.M.8
Edwards, C.R.9
Monson, J.P.10
Sampson, J.11
Woss, J.A.H.12
Wheeler, M.H.13
Thakker, R.V.14
-
5
-
-
0342382485
-
Chromosomal localisation of genes encoding guanine-nucleotide binding protein subunits in mouse and human
-
Blatt, C., Eversole-Cire, P., Cohn, V.H. & Zollman, S. (1988) Chromosomal localisation of genes encoding guanine-nucleotide binding protein subunits in mouse and human. Proceedings of the National Academy of Sciences USA, 85, 7642-7646.
-
(1988)
Proceedings of the National Academy of Sciences USA
, vol.85
, pp. 7642-7646
-
-
Blatt, C.1
Eversole-Cire, P.2
Cohn, V.H.3
Zollman, S.4
-
6
-
-
0028068226
-
Parental origin of transcription from the human GNAS1 gene
-
Campbell, R., Godson, C.M. & Bontron, D.T. (1994) Parental origin of transcription from the human GNAS1 gene. Journal of Medical Genetics, 31, 607-614.
-
(1994)
Journal of Medical Genetics
, vol.31
, pp. 607-614
-
-
Campbell, R.1
Godson, C.M.2
Bontron, D.T.3
-
7
-
-
15644383681
-
Familial acrodysostosis: Can it be distinguished from Albright's Hereditary Osteodystrophy?
-
Davis, S.J. & Hughes, H.E. (1992) Familial acrodysostosis: can it be distinguished from Albright's Hereditary Osteodystrophy? Journal of Medical Genetics, 30, 101-103.
-
(1992)
Journal of Medical Genetics
, vol.30
, pp. 101-103
-
-
Davis, S.J.1
Hughes, H.E.2
-
8
-
-
0018904371
-
Defect of receptor-cyclase coupling protein in patients with pseudohypoparathyroidism
-
Farfel, Z., Brickman, A.S., Kaslow, H.R., Brothers, V.M. & Bourne, H.R. (1980) Defect of receptor-cyclase coupling protein in patients with pseudohypoparathyroidism. New England Journal of Medicine, 303, 237-242.
-
(1980)
New England Journal of Medicine
, vol.303
, pp. 237-242
-
-
Farfel, Z.1
Brickman, A.S.2
Kaslow, H.R.3
Brothers, V.M.4
Bourne, H.R.5
-
9
-
-
0029906319
-
Absence of mutations in parathyroid hormone (PTH)/PTH-related protein receptor complementary deoxyribonucleic acid in patients with pseudohypoparathyroidism type Ib
-
Fukumoto, S., Suzawa, M., Takeuchi, Y., Kodama, Y., Nakayama, K., Ogata, E., Matsumoto, T. & Fujita, T. (1996) Absence of mutations in parathyroid hormone (PTH)/PTH-related protein receptor complementary deoxyribonucleic acid in patients with pseudohypoparathyroidism type Ib. Journal of Clinical Endocrinology and Metabolism, 81, 2554-2558.
-
(1996)
Journal of Clinical Endocrinology and Metabolism
, vol.81
, pp. 2554-2558
-
-
Fukumoto, S.1
Suzawa, M.2
Takeuchi, Y.3
Kodama, Y.4
Nakayama, K.5
Ogata, E.6
Matsumoto, T.7
Fujita, T.8
-
10
-
-
0026673093
-
Pseudohypoparathyroidism type I and Albright's hereditary osteodystrophy with a proximal 15q chromosomal deletion in mother and daughter
-
Hedeland, H., Berntorp, K., Arheden, K. & Kristoffersson, U. (1992) Pseudohypoparathyroidism type I and Albright's hereditary osteodystrophy with a proximal 15q chromosomal deletion in mother and daughter. Clinical Genetics, 42, 129-134.
-
(1992)
Clinical Genetics
, vol.42
, pp. 129-134
-
-
Hedeland, H.1
Berntorp, K.2
Arheden, K.3
Kristoffersson, U.4
-
11
-
-
0027956207
-
Rapid GDP release from Gs alpha in patients with gain and loss of endocrine function
-
Iiri, T., Herzmark, P., Nakamoto, J.M., van-Dop, C. & Bourne, H.R. (1994) Rapid GDP release from Gs alpha in patients with gain and loss of endocrine function. Nature, 371, 164-168.
-
(1994)
Nature
, vol.371
, pp. 164-168
-
-
Iiri, T.1
Herzmark, P.2
Nakamoto, J.M.3
Van-Dop, C.4
Bourne, H.R.5
-
12
-
-
0024121610
-
Isolation and characterisation of the human Gs alpha gene
-
Kosasa, T., Itoh, H., Tsukamoto, T. & Kaziro, Y. (1988) Isolation and characterisation of the human Gs alpha gene. Proceedings of the National Academy of Sciences USA, 85, 2081-2085.
-
(1988)
Proceedings of the National Academy of Sciences USA
, vol.85
, pp. 2081-2085
-
-
Kosasa, T.1
Itoh, H.2
Tsukamoto, T.3
Kaziro, Y.4
-
13
-
-
0020627955
-
Resistance to multiple hormones in patients with pseudohypoparathyroidism: Association with deficient activity of guanine nucleotide regulatory protein
-
Levine, M.A., Downs, R.W., Moses, A.M., Breslau, N.A., Marx, S.J., Lasker, R.D., Rizzoli, R.E., Aurbach, G.D. & Spiegel, A.M. (1983) Resistance to multiple hormones in patients with pseudohypoparathyroidism: association with deficient activity of guanine nucleotide regulatory protein. American Journal of Medicine, 74, 545-556.
-
(1983)
American Journal of Medicine
, vol.74
, pp. 545-556
-
-
Levine, M.A.1
Downs, 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
-
14
-
-
0028151754
-
Characterization of a de novo 43-bp deletion of the Gs alpha gene (GNAS1) in Albright hereditary osteodystrophy
-
Luttikhuis, M.E., Wilson, L.C., Leonard, J.V. & Trembath, R.C. (1994) Characterization of a de novo 43-bp deletion of the Gs alpha gene (GNAS1) in Albright hereditary osteodystrophy. Genomics, 21, 455-457.
-
(1994)
Genomics
, vol.21
, pp. 455-457
-
-
Luttikhuis, M.E.1
Wilson, L.C.2
Leonard, J.V.3
Trembath, R.C.4
-
15
-
-
0027210606
-
Heterogeneous mutations in the gene encoding the alpha-subunit of the stimulatory G protein of adenyl cyclase in Albright hereditary osteodystrophy
-
Miric, A., Vechio, J.D. & Levine, M.A. (1993) Heterogeneous mutations in the gene encoding the alpha-subunit of the stimulatory G protein of adenyl cyclase in Albright hereditary osteodystrophy. Journal of Clinical Endocrinology and Metabolism, 76, 1560-1568.
-
(1993)
Journal of Clinical Endocrinology and Metabolism
, vol.76
, pp. 1560-1568
-
-
Miric, A.1
Vechio, J.D.2
Levine, M.A.3
-
16
-
-
0025323257
-
Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy
-
Patten, J.L., Johns, D.R., Valle, D., Eil, C., Gruppuso, P.A., Steele, G., Smallwood, P.M. & Levine, M.A. (1990) Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy. New England Journal of Medicine, 322, 1412-1419.
-
(1990)
New England Journal of Medicine
, vol.322
, pp. 1412-1419
-
-
Patten, J.L.1
Johns, D.R.2
Valle, D.3
Eil, C.4
Gruppuso, P.A.5
Steele, G.6
Smallwood, P.M.7
Levine, M.A.8
-
17
-
-
0028848215
-
Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism
-
Pearce, S.H.S., Trump, D., Wooding, C., Besser, G.M., Chew, S.L., Grant, D.B., Heath, D.A., Hughes, I.A., Paterson, C.R., Whyte, M.P. & Thakker, R.V. (1995) Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism. Journal of Clinical Investigation, 96, 2683-2692.
-
(1995)
Journal of Clinical Investigation
, vol.96
, pp. 2683-2692
-
-
Pearce, S.H.S.1
Trump, D.2
Wooding, C.3
Besser, G.M.4
Chew, S.L.5
Grant, D.B.6
Heath, D.A.7
Hughes, I.A.8
Paterson, C.R.9
Whyte, M.P.10
Thakker, R.V.11
-
18
-
-
0028679708
-
GTP-binding proteins: Heterotrimeric G proteins
-
Pennington, S.R. (1994) GTP-binding proteins: heterotrimeric G proteins. Protein Profile, I, 172.
-
(1994)
Protein Profile
, vol.1
, pp. 172
-
-
Pennington, S.R.1
-
19
-
-
0029080844
-
Albright hereditary osteodystrophy and del (2) (q37·3) in four unrelated individuals
-
Phelan, M.C., Rogers, R.C., Clarkson, K.B., Bowyer, P.P., Levine, M.A., Estabrooks, L.L., Severson, M.C. & Dobyns, W.B. (1995) Albright hereditary osteodystrophy and del (2) (q37·3) in four unrelated individuals. American Journal of Medical Genetics, 58, 1-7.
-
(1995)
American Journal of Medical Genetics
, vol.58
, pp. 1-7
-
-
Phelan, M.C.1
Rogers, R.C.2
Clarkson, K.B.3
Bowyer, P.P.4
Levine, M.A.5
Estabrooks, L.L.6
Severson, M.C.7
Dobyns, W.B.8
-
20
-
-
0017687244
-
The pattern of shortening of the bones of the hand in PHP and PPHP - A comparison with Brachydactly E, Turner's Syndrome and Acrodysostosis
-
Poznanski, A.K., Werder, E.A. & Giedian, A. (1977) The pattern of shortening of the bones of the hand in PHP and PPHP - a comparison with Brachydactly E, Turner's Syndrome and Acrodysostosis. Radiology, 123, 707-718.
-
(1977)
Radiology
, vol.123
, pp. 707-718
-
-
Poznanski, A.K.1
Werder, E.A.2
Giedian, A.3
-
21
-
-
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, L.S., Bergwitz, C., Iida-Klein, A., Kong, X.F., Stuhrmann, M., Kruse, K., Whyte, M.P., Murray, T. & Schmidtke, J. (1995) Pseudohypoparathyroidism type Ib is not caused by mutations in the coding exons of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene. Journal of Clinical Endocrinology and Metabolism, 80, 1611-1621.
-
(1995)
Journal of Clinical Endocrinology and Metabolism
, 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
-
22
-
-
0028172104
-
A novel Gs alpha mutant in a patient with Albright hereditary osteodystrophy uncouples cell surface receptors from adenyl cyclase
-
Schwindinger, W.F., Miric, A., Zimmerman, D. & Levine, M.A. (1994) A novel Gs alpha mutant in a patient with Albright hereditary osteodystrophy uncouples cell surface receptors from adenyl cyclase. Journal of Biological Chemistry, 269, 25387-25391.
-
(1994)
Journal of Biological Chemistry
, vol.269
, pp. 25387-25391
-
-
Schwindinger, W.F.1
Miric, A.2
Zimmerman, D.3
Levine, M.A.4
-
23
-
-
0030026060
-
Pseudohypoparathyroidism type Ia: Two new heterozygous frameshift mutations in exons 5 and 10 of the Gs alpha gene
-
Shapira, H., Mouallem, M., Shapiro, M.S., Weisman, Y. & Farfel, Z. (1996) Pseudohypoparathyroidism type Ia: two new heterozygous frameshift mutations in exons 5 and 10 of the Gs alpha gene. Human Genetics, 97, 73-75.
-
(1996)
Human Genetics
, vol.97
, pp. 73-75
-
-
Shapira, H.1
Mouallem, M.2
Shapiro, M.S.3
Weisman, Y.4
Farfel, Z.5
-
24
-
-
0026099538
-
Plasma cyclic AMP response to intravenous parathyroid hormone in pseudohypoparathyroidism
-
Stirling, H.F., Darling, J.A.B. & Barr, D.G.D (1991) Plasma cyclic AMP response to intravenous parathyroid hormone in pseudohypoparathyroidism. Acta Paediatrica Scandinavia, 80, 333-338.
-
(1991)
Acta Paediatrica Scandinavia
, vol.80
, pp. 333-338
-
-
Stirling, H.F.1
Darling, J.A.B.2
Barr, D.G.D.3
-
25
-
-
0024394627
-
Association of parathyroid tumours in multiple endocrine neoplasia type 1 with loss of alleles on chromosome 11
-
Thakker, R.V., Bouloux, P., Wooding, C., Chotal, K., Broad, P.M., Spurr, N.K., Besser, G.M. & O'Riordan, J.L.H. (1989) Association of parathyroid tumours in multiple endocrine neoplasia type 1 with loss of alleles on chromosome 11. New England Journal of Medicine, 321, 218-224.
-
(1989)
New England Journal of Medicine
, vol.321
, pp. 218-224
-
-
Thakker, R.V.1
Bouloux, P.2
Wooding, C.3
Chotal, K.4
Broad, P.M.5
Spurr, N.K.6
Besser, G.M.7
O'Riordan, J.L.H.8
-
26
-
-
0027161684
-
Association of somatotrophinomas with loss of alleles on chromosome 11 and with gsp mutations
-
Thakker, R.V., Pook, M.A., Wooding, C., Boscaro, M., Scanarini, M. & Clayton, R.N. (1993) Association of somatotrophinomas with loss of alleles on chromosome 11 and with gsp mutations. Journal of Clinical Investigation, 91, 2815-2821.
-
(1993)
Journal of Clinical Investigation
, vol.91
, pp. 2815-2821
-
-
Thakker, R.V.1
Pook, M.A.2
Wooding, C.3
Boscaro, M.4
Scanarini, M.5
Clayton, R.N.6
-
27
-
-
0026672057
-
A heterozygous 4-bp deletion mutation in the Gs alpha gene (GNAS1) in a patient with Albright hereditary osteodystrophy
-
Weinstein, L.S., de Gejman, P.V., de Mazancourt, P., American, N. & Spiegel, A.M. (1992) A heterozygous 4-bp deletion mutation in the Gs alpha gene (GNAS1) in a patient with Albright hereditary osteodystrophy. Genomics, 13, 1319-1321.
-
(1992)
Genomics
, vol.13
, pp. 1319-1321
-
-
Weinstein, L.S.1
De Gejman, P.V.2
De Mazancourt, P.3
American, N.4
Spiegel, A.M.5
-
28
-
-
0025195106
-
Mutations of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis
-
Weinstein, L.S., Gejman, P.V., Friedman, E., Kadowaki, T., Collins, R.M., Gershon, E.S. & Spiegel, A.M. (1990) Mutations of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis. Proceedings of the National Academy of Sciences USA, 87, 8287-8290.
-
(1990)
Proceedings of the National Academy of Sciences USA
, vol.87
, pp. 8287-8290
-
-
Weinstein, L.S.1
Gejman, P.V.2
Friedman, E.3
Kadowaki, T.4
Collins, R.M.5
Gershon, E.S.6
Spiegel, A.M.7
-
30
-
-
0028143011
-
Parental origin of Gsa gene mutations in Albright's hereditary osteodystrophy
-
Wilson, L.C., Luttikhuis, M.E.O., Clayton, P.T., Fraser, W.D. & Trembath, R.C. (1994) Parental origin of Gsa gene mutations in Albright's hereditary osteodystrophy. Journal of Medical Genetics, 31, 835-839.
-
(1994)
Journal of Medical Genetics
, vol.31
, pp. 835-839
-
-
Wilson, L.C.1
Luttikhuis, M.E.O.2
Clayton, P.T.3
Fraser, W.D.4
Trembath, R.C.5
-
31
-
-
0028850141
-
A deletion hot-spot in exon 7 of the Gs alpha gene (GNAS1) in patients with Albright hereditary osteodystrophy
-
Yu, S., Yu, D., Hainline, B.E., Brener, J.L., Wilson, K.A., Wilson, L.C., Luttikhuis, M.E.O., Trembatn, R.C. & Weinstein, L.S. (1995) A deletion hot-spot in exon 7 of the Gs alpha gene (GNAS1) in patients with Albright hereditary osteodystrophy. Human Molecular Genetics, 4, 2001-2002.
-
(1995)
Human Molecular Genetics
, vol.4
, pp. 2001-2002
-
-
Yu, S.1
Yu, D.2
Hainline, B.E.3
Brener, J.L.4
Wilson, K.A.5
Wilson, L.C.6
Luttikhuis, M.E.O.7
Trembatn, R.C.8
Weinstein, L.S.9
|