-
1
-
-
0030817589
-
Clinical and biological heterogeneity in pseudohypoparathyroidism syndrome. Results of a multicenter study
-
Marguet C., Mallet E., Basuyau J.P., Martin D., Leroy M., and Brunelle P. Clinical and biological heterogeneity in pseudohypoparathyroidism syndrome. Results of a multicenter study. Horm. Res. 48 (1997) 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
-
2
-
-
0000821313
-
Pseudohypoparathyroidism-An example of "Seabright-Bantam syndrome"
-
Albright F., Burnett C.H., Smith P.H., and Parson W. Pseudohypoparathyroidism-An example of "Seabright-Bantam syndrome". Endocrinology 30 (1942) 922-932
-
(1942)
Endocrinology
, vol.30
, pp. 922-932
-
-
Albright, F.1
Burnett, C.H.2
Smith, P.H.3
Parson, W.4
-
3
-
-
0029078683
-
Progressive osseous heteroplasia in male patients. Two new case reports
-
Rosenfeld S.R., and Kaplan F.S. Progressive osseous heteroplasia in male patients. Two new case reports. Clin. Orthop. (1995) 243-245
-
(1995)
Clin. Orthop.
, pp. 243-245
-
-
Rosenfeld, S.R.1
Kaplan, F.S.2
-
4
-
-
0028348430
-
Progressive osseous heteroplasia: a distinct developmental disorder of heterotopic ossification. Two new case reports and follow-up of three previously reported cases
-
Kaplan F.S., Craver R., MacEwen G.D., Gannon F.H., Finkel G., Hahn G., et al. Progressive osseous heteroplasia: a distinct developmental disorder of heterotopic ossification. Two new case reports and follow-up of three previously reported cases. J. Bone Jt. Surg. Am. 76 (1994) 425-436
-
(1994)
J. Bone Jt. Surg. Am.
, vol.76
, pp. 425-436
-
-
Kaplan, F.S.1
Craver, R.2
MacEwen, G.D.3
Gannon, F.H.4
Finkel, G.5
Hahn, G.6
-
5
-
-
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., et al. Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy. N. Engl. J. Med. 322 (1990) 1412-1419
-
(1990)
N. Engl. J. Med.
, 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
-
6
-
-
0037050365
-
Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia
-
Shore E.M., Ahn J., Jan de Beur S., Li M., Xu M., Gardner R.J., et al. Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia. N. Engl. J. Med. 346 (2002) 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
-
8
-
-
0027399429
-
Imprinting in Albright's hereditary osteodystrophy
-
Davies S.J., and Hughes H.E. Imprinting in Albright's hereditary osteodystrophy. J. Med. Genet. 30 (1993) 101-103
-
(1993)
J. Med. Genet.
, vol.30
, pp. 101-103
-
-
Davies, S.J.1
Hughes, H.E.2
-
9
-
-
0033793009
-
Deficiency of the alpha-subunit of the stimulatory G protein and severe extraskeletal ossification
-
Eddy M.C., Jan de Beur S.M., Yandow S.M., McAlister W.H., Shore E.M., Kaplan F.S., et al. Deficiency of the alpha-subunit of the stimulatory G protein and severe extraskeletal ossification. J. Bone Miner. Res. 15 (2000) 2074-2083
-
(2000)
J. Bone Miner. Res.
, vol.15
, pp. 2074-2083
-
-
Eddy, M.C.1
Jan de Beur, S.M.2
Yandow, S.M.3
McAlister, W.H.4
Shore, E.M.5
Kaplan, F.S.6
-
10
-
-
0036932905
-
Albright's hereditary osteodystrophy and pseudohypoparathyroidism
-
Wilson L.C., and Hall C.M. Albright's hereditary osteodystrophy and pseudohypoparathyroidism. Semin. Musculoskelet. Radiol. 6 (2002) 273-283
-
(2002)
Semin. Musculoskelet. Radiol.
, vol.6
, pp. 273-283
-
-
Wilson, L.C.1
Hall, C.M.2
-
11
-
-
0019309715
-
Deficient activity of guanine nucleotide regulatory protein in erythrocytes from patients with pseudohypoparathyroidism
-
Levine M.A., Downs Jr. R.W., Singer M., Marx S.J., Aurbach G.D., and Spiegel A.M. Deficient activity of guanine nucleotide regulatory protein in erythrocytes from patients with pseudohypoparathyroidism. Biochem. Biophys. Res. Commun. 94 (1980) 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
-
12
-
-
0018904371
-
Defect of receptor-cyclase coupling protein in pseudohypoparathyroidism
-
Farfel Z., Brickman A.S., Kaslow H.R., Brothers V.M., and Bourne H.R. Defect of receptor-cyclase coupling protein in pseudohypoparathyroidism. N. Engl. J. Med. 303 (1980) 237-242
-
(1980)
N. Engl. J. Med.
, vol.303
, pp. 237-242
-
-
Farfel, Z.1
Brickman, A.S.2
Kaslow, H.R.3
Brothers, V.M.4
Bourne, H.R.5
-
14
-
-
0031667304
-
Progressive osseous heteroplasia. Report of a family
-
Urtizberea J.A., Testart H., Cartault F., Boccon-Gibod L., Le Merrer M., and Kaplan F.S. Progressive osseous heteroplasia. Report of a family. J. Bone Jt. Surg., Br. 80 (1998) 768-771
-
(1998)
J. Bone Jt. Surg., Br.
, vol.80
, pp. 768-771
-
-
Urtizberea, J.A.1
Testart, H.2
Cartault, F.3
Boccon-Gibod, L.4
Le Merrer, M.5
Kaplan, F.S.6
-
15
-
-
0036785236
-
Progressive osseous heteroplasia. A case report and review of the literature
-
Aynaci O., Mujgan Aynaci F., Cobanoglu U., and Alpay K. Progressive osseous heteroplasia. A case report and review of the literature. J. Pediatr. Orthop., B 11 (2002) 339-342
-
(2002)
J. Pediatr. Orthop., B
, vol.11
, pp. 339-342
-
-
Aynaci, O.1
Mujgan Aynaci, F.2
Cobanoglu, U.3
Alpay, K.4
-
16
-
-
0034100664
-
Osteogenic induction in hereditary disorders of heterotopic ossification
-
Shore E.M., Glaser D.L., and Gannon F.H. Osteogenic induction in hereditary disorders of heterotopic ossification. Clin. Orthop. 374 (2000) 303-316
-
(2000)
Clin. Orthop.
, vol.374
, pp. 303-316
-
-
Shore, E.M.1
Glaser, D.L.2
Gannon, F.H.3
-
17
-
-
0034331685
-
Progressive osseous heteroplasia
-
Kaplan F.S., and Shore E.M. Progressive osseous heteroplasia. J. Bone Miner. Res. 15 (2000) 2084-2094
-
(2000)
J. Bone Miner. Res.
, vol.15
, pp. 2084-2094
-
-
Kaplan, F.S.1
Shore, E.M.2
-
18
-
-
33646348736
-
A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva
-
Shore E.M., Xu M., Feildman G.J., Fenstermacher D.A., Brown M.A., and Kaplan F.S. A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva. Nat. Genet. 38 (2006) 525-527
-
(2006)
Nat. Genet.
, vol.38
, pp. 525-527
-
-
Shore, E.M.1
Xu, M.2
Feildman, G.J.3
Fenstermacher, D.A.4
Brown, M.A.5
Kaplan, F.S.6
-
19
-
-
0036291368
-
Gs(alpha) mutations and imprinting defects in human disease
-
Weinstein L.S., Chen M., and Liu J. Gs(alpha) mutations and imprinting defects in human disease. Ann. N. Y. Acad. Sci. 968 (2002) 173-197
-
(2002)
Ann. N. Y. Acad. Sci.
, vol.968
, pp. 173-197
-
-
Weinstein, L.S.1
Chen, M.2
Liu, J.3
-
20
-
-
0037162114
-
GNAS1 mutations and progressive osseous heteroplasia [comment]
-
Ahmed S.F., Barr D.G., and Bonthron D.T. GNAS1 mutations and progressive osseous heteroplasia [comment]. N. Engl. J. Med. 346 (2002) 1669-1671
-
(2002)
N. Engl. J. Med.
, vol.346
, pp. 1669-1671
-
-
Ahmed, S.F.1
Barr, D.G.2
Bonthron, D.T.3
-
21
-
-
0037162114
-
GNAS1 mutations and progressive osseous heteroplasia
-
Bastepe M., and Juppner H. GNAS1 mutations and progressive osseous heteroplasia. N. Engl. J. Med. 346 (2002) 1669-1671
-
(2002)
N. Engl. J. Med.
, vol.346
, pp. 1669-1671
-
-
Bastepe, M.1
Juppner, H.2
-
22
-
-
18144382322
-
Reduction in Gs(alpha) induces osteogenic differentiation in human mesenchymal stem cells
-
Leitman S., Ding C., Cooke D., and Levine M.A. Reduction in Gs(alpha) induces osteogenic differentiation in human mesenchymal stem cells. Clin. Orthop. 434 (2005) 231-238
-
(2005)
Clin. Orthop.
, vol.434
, pp. 231-238
-
-
Leitman, S.1
Ding, C.2
Cooke, D.3
Levine, M.A.4
-
23
-
-
0031712069
-
GNAS1 mutational analysis in pseudohypoparathyroidism
-
Ahmed S.F., Dixon P.H., Bonthron D.T., Stirling H.F., Barr D.G., Kelnar C.J., et al. GNAS1 mutational analysis in pseudohypoparathyroidism. Clin. Endocrinol. (Oxf.) 49 (1998) 525-531
-
(1998)
Clin. Endocrinol. (Oxf.)
, vol.49
, pp. 525-531
-
-
Ahmed, S.F.1
Dixon, P.H.2
Bonthron, D.T.3
Stirling, H.F.4
Barr, D.G.5
Kelnar, C.J.6
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