-
1
-
-
0000821313
-
Pseudohypoparathyroidism - An example of "Seabright-Bantam syndrome."
-
Albright F, Burnett CH, Smith PH, Parson W. 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
Parson, W.4
-
3
-
-
0018247250
-
Studies of hypoparathyroidism and pseudohypoparathyroidism
-
Lewin IG, Papapoulos SE, Tomlinson S, Hendy GN, O'Riordan JLH. Studies of hypoparathyroidism and pseudohypoparathyroidism. QJM 1978;47:533-548
-
(1978)
QJM
, vol.47
, pp. 533-548
-
-
Lewin, I.G.1
Papapoulos, S.E.2
Tomlinson, S.3
Hendy, G.N.4
O'Riordan, J.L.H.5
-
4
-
-
0016303124
-
The effects of exogenous parathyroid hormone on plasma and urinary adenosine 3′,5′-cyclic monophosphate in man
-
Tomlinson S, Barring PM, Albano JDM, Brown BL, O'Riordan JLH. The effects of exogenous parathyroid hormone on plasma and urinary adenosine 3′,5′-cyclic monophosphate in man. Clin Sci Molec Med 1974;47:481-492
-
(1974)
Clin Sci Molec Med
, vol.47
, pp. 481-492
-
-
Tomlinson, S.1
Barring, P.M.2
Albano, J.D.M.3
Brown, B.L.4
O'Riordan, J.L.H.5
-
5
-
-
0027118914
-
G proteins. The target sets the tempo [news]
-
Bourne HR, Stryer L. G proteins. The target sets the tempo [news]. Nature 1992;358:541-543
-
(1992)
Nature
, vol.358
, pp. 541-543
-
-
Bourne, H.R.1
Stryer, L.2
-
6
-
-
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, et al. 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 R.W., Jr.2
Moses, A.M.3
-
7
-
-
0003062185
-
Pseudohypoparathyroidism
-
Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York: McGraw-Hill
-
Spiegel AM, Weinstein LS. Pseudohypoparathyroidism. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th Ed. New York: McGraw-Hill; 1995:3073-3089
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease, 7th Ed.
, pp. 3073-3089
-
-
Spiegel, A.M.1
Weinstein, L.S.2
-
8
-
-
0025173391
-
Immunochemical analysis of the alpha-subunit of the stimulatory G-protein of adenylyl cyclase in patients with Albright's hereditary osteodystrophy
-
Patten JL, Levine MA. Immunochemical analysis of the alpha-subunit of the stimulatory G-protein of adenylyl cyclase in patients with Albright's hereditary osteodystrophy. J Clin Endocrinol Metab 1990;71:1208-1214
-
(1990)
J Clin Endocrinol Metab
, vol.71
, pp. 1208-1214
-
-
Patten, J.L.1
Levine, M.A.2
-
9
-
-
0007406646
-
Genetic deficiency of the α subunit of the guanine nucleotide-binding protein Gs as the molecular basis for Albright hereditary osteodystrophy
-
Levine MA, Ahn TG, Klupt SF, et al. Genetic deficiency of the α subunit of the guanine nucleotide-binding protein Gs 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
-
11
-
-
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
-
12
-
-
0028850141
-
A deletion hotspot in exon 7 of the Gsα gene (GNAS1) in patients with Albright's hereditary osteodystrophy
-
Yu S, Yu D, Hainline BE, et al. A deletion hotspot in exon 7 of the Gsα gene (GNAS1) in patients with Albright's hereditary osteodystrophy. Hum Mol Genet 1995;4:2001-2002
-
(1995)
Hum Mol Genet
, vol.4
, pp. 2001-2002
-
-
Yu, S.1
Yu, D.2
Hainline, B.E.3
-
13
-
-
0028143011
-
Parental origin of Gsα mutations - Evidence for imprinting in Albright hereditary osteodystrophy
-
Wilson LC, Oude Luttikhuis MEM, Clayton PT, Fraser WD, Trembath RC. Parental origin of Gsα mutations - Evidence for imprinting in Albright hereditary osteodystrophy. J Med Genet 1994;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 SJ, Hughes HE. Imprinting in Albright's hereditary osteodystrophy. [review]. J Med Genet 1993;30:101-103
-
(1993)
J Med Genet
, vol.30
, pp. 101-103
-
-
Davies, S.J.1
Hughes, H.E.2
-
15
-
-
0028014560
-
Paternal and maternal transmission of pseudohypoparathyroidism type Ia in a family with Albright hereditary osteodystrophy: No evidence of genomic imprinting
-
Schuster V, Kress W, Kruse K. Paternal and maternal transmission of pseudohypoparathyroidism type Ia in a family with Albright hereditary osteodystrophy: No evidence of genomic imprinting. J Med Genet 1994;31:84
-
(1994)
J Med Genet
, vol.31
, pp. 84
-
-
Schuster, V.1
Kress, W.2
Kruse, K.3
-
16
-
-
0035106246
-
Imprinting of the Gsα gene GNAS1 in the pathogenesis of acromegaly
-
Hayward BE, Barlier A, Korbonits M, et al. Imprinting of the Gsα gene GNAS1 in the pathogenesis of acromegaly. J Clin Invest 2001;107:R31-R36
-
(2001)
J Clin Invest
, vol.107
-
-
Hayward, B.E.1
Barlier, A.2
Korbonits, M.3
-
17
-
-
0035982094
-
Paternal imprinting of Galpha(s) in the human thyroid as the basis of TSH resistance in pseudohypoparathyroidism type 1a
-
Germain-Lee EL, Ding CL, Deng Z, et al. Paternal imprinting of Galpha(s) in the human thyroid as the basis of TSH resistance in pseudohypoparathyroidism type 1a. Biochem Biophys Res Commun 2002;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
-
18
-
-
0032555241
-
Variable and tissue-specific hormone resistance in heterotrimeric Gs protein α-subunit (Gsα) knockout mice is due to tissue-specific imprinting of the Gsα gene
-
Yu S, Yu D, Lee E, et al. Variable and tissue-specific hormone resistance in heterotrimeric Gs protein α-subunit (Gsα) knockout mice is due to tissue-specific imprinting of the Gsα gene. Proc Natl Acad Sci USA 1998;95:8715-8720
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 8715-8720
-
-
Yu, S.1
Yu, D.2
Lee, E.3
-
19
-
-
0032433682
-
Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins
-
Hayward BE, Moran V, Strain L, Bonthron DT. Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins. Proc Natl Acad Sci USA 1998;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
-
20
-
-
0033762171
-
A GNAS1 imprinting defect in pseudohypoparathyroidism type IB
-
Liu J, Litman D, Rosenberg MJ, et al. 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
-
21
-
-
0035808314
-
Selective resistance to parathyroid hormone caused by a novel uncoupling mutation in the carboxyl terminus of Gsα
-
Wu WI, Schwindinger WF, Aparicio LF, Levine MA. Selective resistance to parathyroid hormone caused by a novel uncoupling mutation in the carboxyl terminus of Gsα. J Biol Chem 2001;276:165-171
-
(2001)
J Biol Chem
, vol.276
, pp. 165-171
-
-
Wu, W.I.1
Schwindinger, W.F.2
Aparicio, L.F.3
Levine, M.A.4
-
22
-
-
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, et al. 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
-
23
-
-
0019939169
-
Growth and maturation in pseudohypoparathyroidism; a longitudinal study in 5 patients
-
de Wijn EM, Steendijk R. Growth and maturation in pseudohypoparathyroidism; a longitudinal study in 5 patients. Acta Endocrinol 1982;101:223-226
-
(1982)
Acta Endocrinol
, vol.101
, pp. 223-226
-
-
De Wijn, E.M.1
Steendijk, R.2
-
24
-
-
0020061545
-
Albright's hereditary osteodystrophy: A review
-
Fitch N. Albright's hereditary osteodystrophy: A review. Am J Med Genet 1982;11:11-29
-
(1982)
Am J Med Genet
, vol.11
, pp. 11-29
-
-
Fitch, N.1
-
25
-
-
0013912696
-
The roentgen appearance of pseudohypoparathyroidism (PH) and pseudo-pseudohypoparathyroidism (PPH). Differentiation from other syndromes associated with short metacarpals, metatarsals, and phalanges
-
Steinbach HL, Young DA. The roentgen appearance of pseudohypoparathyroidism (PH) and pseudo- pseudohypoparathyroidism (PPH). Differentiation from other syndromes associated with short metacarpals, metatarsals, and phalanges. AJR Am J Roentgenol 1966;97:49-66
-
(1966)
AJR Am J Roentgenol
, vol.97
, pp. 49-66
-
-
Steinbach, H.L.1
Young, D.A.2
-
26
-
-
0017687244
-
The pattern of shortening of the bones of the hand in PHP and PPHP - A comparison with brachydactyly E, Turner syndrome, and acrodysostosis
-
Poznanski AK, Werder EA, Giedion A. The pattern of shortening of the bones of the hand in PHP and PPHP - A comparison with brachydactyly E, Turner syndrome, and acrodysostosis. Radiology 1977;123:707-718
-
(1977)
Radiology
, vol.123
, pp. 707-718
-
-
Poznanski, A.K.1
Werder, E.A.2
Giedion, A.3
-
27
-
-
0021998423
-
Prevalences of CT-detected calcification in the basal ganglia in idiopathic hypoparathyroidism and pseudohypoparathyroidism
-
Illum F, Dupont E. Prevalences of CT-detected calcification in the basal ganglia in idiopathic hypoparathyroidism and pseudohypoparathyroidism. Neuroradiology 1985;27:32-37
-
(1985)
Neuroradiology
, vol.27
, pp. 32-37
-
-
Illum, F.1
Dupont, E.2
-
28
-
-
0026547952
-
Osteoma cutis as a presenting sign of pseudohypoparathyroidism
-
Prendiville JS, Lucky AW, Mallory SB, et al. Osteoma cutis as a presenting sign of pseudohypoparathyroidism. Pediatr Dermatol 1992;9:11-18
-
(1992)
Pediatr Dermatol
, vol.9
, pp. 11-18
-
-
Prendiville, J.S.1
Lucky, A.W.2
Mallory, S.B.3
-
30
-
-
0018395280
-
Scleral and choroidal calcifications in a patient with pseudohypoparathyroidism
-
Wong S, Zakov ZN, Albert DM. Scleral and choroidal calcifications in a patient with pseudohypoparathyroidism. Br J Ophthalmol 1979;63:177-180
-
(1979)
Br J Ophthalmol
, vol.63
, pp. 177-180
-
-
Wong, S.1
Zakov, Z.N.2
Albert, D.M.3
-
31
-
-
0026733016
-
Intracardiac calcifications in a case of pseudohypoparathyroidism type Ia (PHP-Ia)
-
Schuster V, Sandhage K. Intracardiac calcifications in a case of pseudohypoparathyroidism type Ia (PHP-Ia). Pediatr of Cardiol 1992;13:237-239
-
(1992)
Pediatr of Cardiol
, vol.13
, pp. 237-239
-
-
Schuster, V.1
Sandhage, K.2
-
32
-
-
0022485636
-
Mental deficiency in pseudohypoparathyroidism type I is associated with Ns-protein deficiency
-
Farfel Z, Friedman E. Mental deficiency in pseudohypoparathyroidism type I is associated with Ns-protein deficiency. Ann Intern Med 1986;105:197-199
-
(1986)
Ann Intern Med
, vol.105
, pp. 197-199
-
-
Farfel, Z.1
Friedman, E.2
-
33
-
-
0012357767
-
Skeletal dysplasias and the eye: Albright's hereditary osteodystrophy
-
Spranger JW. Skeletal dysplasias and the eye: Albright's hereditary osteodystrophy. Birth Defects Original Article Series 1969;5:122-128
-
(1969)
Birth Defects Original Article Series
, vol.5
, pp. 122-128
-
-
Spranger, J.W.1
-
34
-
-
0025082036
-
Sensorineural hearing loss owing to deficient G proteins in patients with pseudohypoparathyroidism: Results of a multicentre study
-
Koch T, Lehnhardt E, Bottinger H, et al. Sensorineural hearing loss owing to deficient G proteins in patients with pseudohypoparathyroidism: Results of a multicentre study. Eur J Clin Invest 1990;20:416-421
-
(1990)
Eur J Clin Invest
, vol.20
, pp. 416-421
-
-
Koch, T.1
Lehnhardt, E.2
Bottinger, H.3
-
35
-
-
0012460536
-
Dental manifestations of pseudohypoparathyroidism
-
Ritchie GM. Dental manifestations of pseudohypoparathyroidism. Arch Dis Child 1965;40:565-572
-
(1965)
Arch Dis Child
, vol.40
, pp. 565-572
-
-
Ritchie, G.M.1
-
36
-
-
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. QJM 1991;78:251-264
-
(1991)
QJM
, vol.78
, pp. 251-264
-
-
Faull, C.M.1
Welbury, R.R.2
Paul, B.3
Kendall-Taylor, P.4
-
37
-
-
0028337307
-
Pseudohypoparathyroidism - Associated spinal stenosis
-
Okada K, Iida K, Sakusabe N, et al. Pseudohypoparathyroidism - Associated spinal stenosis. Spine 1994;19:1186-1189
-
(1994)
Spine
, vol.19
, pp. 1186-1189
-
-
Okada, K.1
Iida, K.2
Sakusabe, N.3
-
38
-
-
0021878101
-
Metabolic bone disease in pseudohypoparathyroidism: Radiologic features
-
Burnstein MI, Kottamasu SR, Pettifor JM, et al. Metabolic bone disease in pseudohypoparathyroidism: Radiologic features. Radiology 1985;155:351-356
-
(1985)
Radiology
, vol.155
, pp. 351-356
-
-
Burnstein, M.I.1
Kottamasu, S.R.2
Pettifor, J.M.3
-
39
-
-
0023583035
-
Pseudohypoparathyroidism: Clinical expression of PTH resistance
-
Kerr D, Hosking DJ. Pseudohypoparathyroidism: Clinical expression of PTH resistance. QJM 1987;65:889-894
-
(1987)
QJM
, vol.65
, pp. 889-894
-
-
Kerr, D.1
Hosking, D.J.2
-
40
-
-
0037050365
-
Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia
-
Shore EM, Ahn J, Jan de Beur S, et al. 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
-
41
-
-
0026003074
-
Activating mutations of the stimulatory G protein in the McCune-Albright syndrome
-
Weinstein LS, Shenker A, Gejman PV, et al. 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
-
42
-
-
0025127424
-
Two G protein oncogenes in human endocrine tumors
-
Lyons J, Landis CA, Harsh G, et al. Two G protein oncogenes in human endocrine tumors. Science 1990;249:655-659
-
(1990)
Science
, vol.249
, pp. 655-659
-
-
Lyons, J.1
Landis, C.A.2
Harsh, G.3
-
44
-
-
0029954184
-
Isolated autosomal dominant type E brachydactyly: Exclusion of linkage to candidate regions 2q37 and 20q13
-
Oude Luttikhuis ME, Williams DK, Trembath RC. Isolated autosomal dominant type E brachydactyly: Exclusion of linkage to candidate regions 2q37 and 20q13. J Med Genet 1996; 33:873-876
-
(1996)
J Med Genet
, vol.33
, pp. 873-876
-
-
Oude Luttikhuis, M.E.1
Williams, D.K.2
Trembath, R.C.3
-
45
-
-
0031057954
-
Normal erythrocyte membrane Gsα bioactivity in two unrelated patients with acrodysostosis
-
Wilson LC, Oude Luttikhuis MEM, Baraitser M, Kingston HM, Trembath RC. Normal erythrocyte membrane Gsα bioactivity in two unrelated patients with acrodysostosis. J Med Genet 1997;34:133-136
-
(1997)
J Med Genet
, vol.34
, pp. 133-136
-
-
Wilson, L.C.1
Oude Luttikhuis, M.E.M.2
Baraitser, M.3
Kingston, H.M.4
Trembath, R.C.5
-
46
-
-
0028813978
-
Brachydactyly and mental retardation: An Albright hereditary osteodystrophy-like syndrome localised to 2q37
-
Wilson LC, Leverton K, Oude Luttikhuis MEM, et al. Brachydactyly and mental retardation: An Albright hereditary osteodystrophy-like syndrome localised to 2q37. Am J Hum Genet 1995;56:400-407
-
(1995)
Am J Hum Genet
, vol.56
, pp. 400-407
-
-
Wilson, L.C.1
Leverton, K.2
Oude Luttikhuis, M.E.M.3
|