-
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
-
-
0000032174
-
s deficiency
-
In: Spiegel A.M. ed. Humana Press, Totowa, NJ
-
s deficiency. In : A.M. Spiegel ed. G Proteins, Receptors, and Disease. Humana Press, Totowa, NJ, 23 56.
-
(1998)
G Proteins, Receptors, and Disease.
, pp. 23-56
-
-
Weinstein, L.S.1
-
3
-
-
0002627048
-
Pseudohypoparathyroidism: Clinical, Biochemical, and Molecular Features
-
In: Bilezikian J.P., Markus R., Levine M.A. eds. Academic Press, New York
-
Jan de Beur, S.M. Levine, M.A. (2001) Pseudohypoparathyroidism: Clinical, Biochemical, and Molecular Features. In : J.P. Bilezikian, R. Markus, M.A. Levine eds. The Parathyroids: Basic and Clinical Concepts. Academic Press, New York, 807 825.
-
(2001)
The Parathyroids: Basic and Clinical Concepts.
, pp. 807-825
-
-
Jan De Beur, S.M.1
Levine, M.A.2
-
4
-
-
17844406661
-
The GNAS locus and pseudohypoparathyroidism
-
Bastepe, M. Jüppner, H. (2005) The GNAS locus and pseudohypoparathyroidism. Hormone Research, 63, 65 74.
-
(2005)
Hormone Research
, vol.63
, pp. 65-74
-
-
Bastepe, M.1
Jüppner, H.2
-
5
-
-
0002919409
-
Pseudohypoparathyroidism
-
In: Bilezikian J.P., Raisz L.G., Rodan G.A. eds. Academic Press, New York
-
Levine, M.A. (1996) Pseudohypoparathyroidism. In : J.P. Bilezikian, L.G. Raisz, G.A. Rodan eds. Principles of Bone Biology. Academic Press, New York, 853 876.
-
(1996)
Principles of Bone Biology.
, pp. 853-876
-
-
Levine, M.A.1
-
6
-
-
0025195106
-
Mutations of the Gs α-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 α-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis. Proceedings of the National Academy of Sciences of the USA, 87, 8287 8290.
-
(1990)
Proceedings of the National Academy of Sciences of the 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
-
7
-
-
0034748804
-
Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy
-
Ahrens, W., Hiort, O., Staedt, P., Kirschner, T., Marschke, C. Kruse, K. (2001) Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy. Journal of Clinical Endocrinology and Metabolism, 86, 4630 4634.
-
(2001)
Journal of Clinical Endocrinology and Metabolism
, vol.86
, pp. 4630-4634
-
-
Ahrens, W.1
Hiort, O.2
Staedt, P.3
Kirschner, T.4
Marschke, C.5
Kruse, K.6
-
8
-
-
0036148298
-
GNAS1 lesions in pseudohypoparathyroidism Ia and Ic: Genotype phenotype relationship and evidence of the maternal transmission of the hormonal resistance
-
Linglart, A., Carel, J., Garabédian, M., Lé, T., Mallet, E. Kottler, M. (2002) GNAS1 lesions in pseudohypoparathyroidism Ia and Ic: genotype phenotype relationship and evidence of the maternal transmission of the hormonal resistance. Journal of Clinical Endocrinology and Metabolism, 87, 189 197.
-
(2002)
Journal of Clinical Endocrinology and Metabolism
, vol.87
, pp. 189-197
-
-
Linglart, A.1
Carel, J.2
Garabédian, M.3
Lé, T.4
Mallet, E.5
Kottler, M.6
-
9
-
-
0037050365
-
Paternally-inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia
-
Shore, E., Ahn, J., Jan de Beur, S., Li, M., Xu, M., McKinlay Gardner, R.J., Zasloff, M.A., Whyte, M.P., Levine, M.A. Kaplan, F.S. (2002) Paternally-inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia. New England Journal of Medicine, 346, 99 106.
-
(2002)
New England Journal of Medicine
, vol.346
, pp. 99-106
-
-
Shore, E.1
Ahn, J.2
Jan De Beur, S.3
Li, M.4
Xu, M.5
McKinlay Gardner, R.J.6
Zasloff, M.A.7
Whyte, M.P.8
Levine, M.A.9
Kaplan, F.S.10
-
10
-
-
0027399429
-
Imprinting in Albright's hereditary osteodystrophy
-
Davies, A.J. Hughes, H.E. (1993) Imprinting in Albright's hereditary osteodystrophy. Journal of Medical Genetics, 30, 101 103.
-
(1993)
Journal of Medical Genetics
, vol.30
, pp. 101-103
-
-
Davies, A.J.1
Hughes, H.E.2
-
11
-
-
0028143011
-
Parental origin of Gsα gene mutations in Albright's hereditary osteodystrophy
-
Wilson, L.C., Oude-Luttikhuis, M.E.M., Clayton, P.T., Fraser, W.D. Trembath, R.C. (1994) Parental origin of Gsα 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
Oude-Luttikhuis, M.E.M.2
Clayton, P.T.3
Fraser, W.D.4
Trembath, R.C.5
-
12
-
-
0141857714
-
The stimulatory G protein alpha-subunit Gs alpha is imprinted in human thyroid glands: Implications for thyroid function in pseudohypoparathyroidism types 1A and 1B
-
Liu, J., Erlichman, B. Weinstein, L. (2003) The stimulatory G protein alpha-subunit Gs alpha is imprinted in human thyroid glands: implications for thyroid function in pseudohypoparathyroidism types 1A and 1B. Journal of Clinical Endocrinology and Metabolism, 88, 4336 4341.
-
(2003)
Journal of Clinical Endocrinology and Metabolism
, vol.88
, pp. 4336-4341
-
-
Liu, J.1
Erlichman, B.2
Weinstein, L.3
-
13
-
-
0035013623
-
Paternal uniparental isodisomy of chromosome 20q (patUPD20q) - And the resulting changes in GNAS1 methylation - As a plausible cause of pseudohypoparathyroidism
-
Bastepe, M., Lane, A.H. Jüppner, H. (2001) Paternal uniparental isodisomy of chromosome 20q (patUPD20q) - and the resulting changes in GNAS1 methylation - as a plausible cause of pseudohypoparathyroidism. American Journal of Human Genetics, 68, 1283 1289.
-
(2001)
American Journal of Human Genetics
, vol.68
, pp. 1283-1289
-
-
Bastepe, M.1
Lane, A.H.2
Jüppner, H.3
-
14
-
-
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, J.E., Sugimoto, T., Tojo, K., Kanatani, M., Azuma, Y., Kruse, K., Rosenbloom, A.L., 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. Human Molecular Genetics, 10, 1231 1241.
-
(2001)
Human Molecular Genetics
, 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
-
15
-
-
17644372378
-
A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS
-
Linglart, A., Gensure, R.C., Olney, R.C., Jüppner, H. Bastepe, M. (2005) A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS. American Journal of Human Genetics, 76, 804 814.
-
(2005)
American Journal of Human Genetics
, vol.76
, pp. 804-814
-
-
Linglart, A.1
Gensure, R.C.2
Olney, R.C.3
Jüppner, H.4
Bastepe, M.5
-
16
-
-
17644367429
-
Molecular diagnosis of pseudohypoparathyroidism type Ib in a family with presumed paroxysmal dyskinesia
-
Mahmud, F., Linglart, A., Bastepe, M., Jüppner, H. Lteif, A. (2005) Molecular diagnosis of pseudohypoparathyroidism type Ib in a family with presumed paroxysmal dyskinesia. Pediatrics, 115, e242 e244.
-
(2005)
Pediatrics
, vol.115
-
-
Mahmud, F.1
Linglart, A.2
Bastepe, M.3
Jüppner, H.4
Lteif, A.5
-
17
-
-
13144250154
-
The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3
-
Jüppner, H., Schipani, E., Bastepe, M., Cole, D.E.C., Lawson, M.L., Mannstadt, M., Hendy, G.N., Plotkin, H., Koshiyama, H., Koh, T., Crawford, J.D., Olsen, B.R. Vikkula, M. (1998) The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3. Proceedings of the National Academy of Sciences of the USA, 95, 11798 11803.
-
(1998)
Proceedings of the National Academy of Sciences of the USA
, vol.95
, pp. 11798-11803
-
-
Jüppner, 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
-
18
-
-
0032433682
-
Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins
-
Hayward, B.E., Moran, V., Strain, L. Bonthron, D.T. (1998) Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins. Proceedings of the National Academy of Sciences of the USA, 95, 15475 15480.
-
(1998)
Proceedings of the National Academy of Sciences of the USA
, vol.95
, pp. 15475-15480
-
-
Hayward, B.E.1
Moran, V.2
Strain, L.3
Bonthron, D.T.4
-
19
-
-
0033616719
-
A cluster of oppositely imprinted transcripts at the GNAS locus in the distal imprinting region of mouse chromosome 2
-
Peters, J., Wroe, S.F., Wells, C.A., Miller, H.J., Bodle, D., Beechey, C.V., Williamson, C.M. Kelsey, G. (1999) A cluster of oppositely imprinted transcripts at the GNAS locus in the distal imprinting region of mouse chromosome 2. Proceedings of the National Academy of Sciences of the USA, 96, 3830 3835.
-
(1999)
Proceedings of the National Academy of Sciences of the 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
-
20
-
-
0034701294
-
An imprinted antisense transcript at the human GNAS1 locus
-
Hayward, B. Bonthron, D. (2000) An imprinted antisense transcript at the human GNAS1 locus. Human Molecular Genetics, 9, 835 841.
-
(2000)
Human Molecular Genetics
, vol.9
, pp. 835-841
-
-
Hayward, B.1
Bonthron, D.2
-
21
-
-
0035106246
-
Imprinting of the G(s) alpha gene GNAS1 in the pathogenesis of acromegaly
-
Hayward, B., Barlier, A., Korbonits, M., Grossman, A., Jacquet, P., Enjalbert, A., Bonthron, D.T. (2001) Imprinting of the G(s) alpha gene GNAS1 in the pathogenesis of acromegaly. Journal of Clinical Investigation, 107, R31 R36.
-
(2001)
Journal of Clinical Investigation
, vol.107
-
-
Hayward, B.1
Barlier, A.2
Korbonits, M.3
Grossman, A.4
Jacquet, P.5
Enjalbert, A.6
Bonthron, D.T.7
-
22
-
-
36248940652
-
Pseudohypoparathyroidism, Gsα, and the GNAS locus
-
Bastepe, M. Jüppner, H. (2005) Pseudohypoparathyroidism, Gsα, and the GNAS locus. Bonekey, 2, 20 32.
-
(2005)
Bonekey
, vol.2
, pp. 20-32
-
-
Bastepe, M.1
Jüppner, H.2
-
23
-
-
0033762171
-
A GNAS1 imprinting defect in pseudohypoparathyroidism type IB
-
Liu, J., Litman, D., Rosenberg, M., Yu S., Biesecker, L. Weinstein, L.S. (2000) A GNAS1 imprinting defect in pseudohypoparathyroidism type IB. Journal of Clinical Investigation, 106, 1167 1174.
-
(2000)
Journal of Clinical Investigation
, vol.106
, pp. 1167-1174
-
-
Liu, J.1
Litman, D.2
Rosenberg, M.3
Yu, S.4
Biesecker, L.5
Weinstein, L.S.6
-
24
-
-
12344293383
-
Distinct patterns of abnormal GNAS imprinting in familial and sporadic pseudohypoparathyroidism type IB
-
Liu, J., Nealon, J. Weinstein, L.S. (2005) Distinct patterns of abnormal GNAS imprinting in familial and sporadic pseudohypoparathyroidism type IB. Human Molecular Genetics, 14, 95 102.
-
(2005)
Human Molecular Genetics
, vol.14
, pp. 95-102
-
-
Liu, J.1
Nealon, J.2
Weinstein, L.S.3
-
25
-
-
11244353640
-
Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib
-
Bastepe, M., Fröhlich, L.F., Linglart, A., Abu-Zahra, H.S., Tojo, K., Ward, L.M. Jüppner, H. (2005) Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib. Nature Genetics, 37, 25 27.
-
(2005)
Nature Genetics
, vol.37
, pp. 25-27
-
-
Bastepe, M.1
Fröhlich, L.F.2
Linglart, A.3
Abu-Zahra, H.S.4
Tojo, K.5
Ward, L.M.6
Jüppner, H.7
-
26
-
-
9144266313
-
Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS
-
Bastepe, M., Fröhlich, L.F., Hendy, G.N., Indridason, O.S., Josse, R.G., Koshiyama, H., Körkko, J., Nakamoto, J.M., Rosenbloom, A.L., Slyper, A.H., Sugimoto, T., Tsatsoulis, A., Crawford, J.D. Jüppner, H. (2003) Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS. Journal of Clinical Investigation, 112, 1255 1263.
-
(2003)
Journal of Clinical Investigation
, vol.112
, pp. 1255-1263
-
-
Bastepe, M.1
Fröhlich, L.F.2
Hendy, G.N.3
Indridason, O.S.4
Josse, R.G.5
Koshiyama, H.6
Körkko, J.7
Nakamoto, J.M.8
Rosenbloom, A.L.9
Slyper, A.H.10
Sugimoto, T.11
Tsatsoulis, A.12
Crawford, J.D.13
Jüppner, H.14
-
27
-
-
10344263392
-
Phenotypic and molecular genetic aspects of pseudohypoparathyroidism type Ib in a Greek kindred: Evidence for enhanced uric acid excretion due to parathyroid hormone resistance
-
Laspa, E., Bastepe, M., Jüppner, H. Tsatsoulis, A. (2004) Phenotypic and molecular genetic aspects of pseudohypoparathyroidism type Ib in a Greek kindred: evidence for enhanced uric acid excretion due to parathyroid hormone resistance. Journal of Clinical Endocrinology and Metabolism, 89, 5942 5947.
-
(2004)
Journal of Clinical Endocrinology and Metabolism
, vol.89
, pp. 5942-5947
-
-
Laspa, E.1
Bastepe, M.2
Jüppner, H.3
Tsatsoulis, A.4
-
28
-
-
0023630019
-
Highly sensitive two-site immunoradiometric assay of parathyrin, and its clinical utility in evaluating patients with hypercalcemia
-
Nussbaum, S.R., Zahradnik, R.J., Lavigne, J.R., Brennan, G.L., Nozawa-Ung, K., Kim, L.Y., Keutmann, H.T., Wang, C.A., Potts, J.T. Jr Segre, G.V. (1987) Highly sensitive two-site immunoradiometric assay of parathyrin, and its clinical utility in evaluating patients with hypercalcemia. Clinical Chemistry, 33, 1364 1367.
-
(1987)
Clinical Chemistry
, vol.33
, pp. 1364-1367
-
-
Nussbaum, S.R.1
Zahradnik, R.J.2
Lavigne, J.R.3
Brennan, G.L.4
Nozawa-Ung, K.5
Kim, L.Y.6
Keutmann, H.T.7
Wang, C.A.8
Potts Jr., J.T.9
Segre, G.V.10
-
29
-
-
36248935123
-
Measurement of parathyroid hormone
-
In: Seibel M., Robins S., Bilezikian J. eds. 2nd edn. Elsevier, Philadelphia, PA
-
Jüppner, H. El-Hajj Fuleihan, G. (2006) Measurement of parathyroid hormone. In : M. Seibel, S. Robins, J. Bilezikian eds. Dynamics of Bone and Cartilage Metabolism, 2nd edn. Elsevier, Philadelphia, PA, 507 512.
-
(2006)
Dynamics of Bone and Cartilage Metabolism
, pp. 507-512
-
-
Jüppner, H.1
El-Hajj Fuleihan, G.2
-
30
-
-
0042165833
-
Discordance between genetic and epigenetic defects in pseudohypoparathyroidism type 1b revealed by inconsistent loss of maternal imprinting at GNAS1
-
Jan de Beur, S., Ding, C., Germain-Lee, E., Cho, J., Maret, A. Levine, M. (2003) Discordance between genetic and epigenetic defects in pseudohypoparathyroidism type 1b revealed by inconsistent loss of maternal imprinting at GNAS1. American Journal of Human Genetics, 73, 314 322.
-
(2003)
American Journal of Human Genetics
, vol.73
, pp. 314-322
-
-
Jan De Beur, S.1
Ding, C.2
Germain-Lee, E.3
Cho, J.4
Maret, A.5
Levine, M.6
-
31
-
-
33748143932
-
Pseudohypoparathyroidism: A rare cause of bilateral slipped capital femoral epiphysis
-
Agarwal, C., Seigle, R., Agarwal, S., Orth, M.C., Bilezikian, J.P., Hyman, J.E. Oberfield, S.E. (2006) Pseudohypoparathyroidism: a rare cause of bilateral slipped capital femoral epiphysis. Journal of Pediatrics, 149, 406 408.
-
(2006)
Journal of Pediatrics
, vol.149
, pp. 406-408
-
-
Agarwal, C.1
Seigle, R.2
Agarwal, S.3
Orth, M.C.4
Bilezikian, J.P.5
Hyman, J.E.6
Oberfield, S.E.7
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