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Disease relevance of Pseudohypoparathyroidism


Psychiatry related information on Pseudohypoparathyroidism


High impact information on Pseudohypoparathyroidism


Chemical compound and disease context of Pseudohypoparathyroidism


Biological context of Pseudohypoparathyroidism


Anatomical context of Pseudohypoparathyroidism


Gene context of Pseudohypoparathyroidism


Analytical, diagnostic and therapeutic context of Pseudohypoparathyroidism


  1. Treatment of hypoparathyroidism and pseudohypoparathyroidism with metabolites of vitamin D: evidence for impaired conversion of 25-hydroxyvitamin D to 1 alpha,25-dihydroxyvitamin D. Kooh, S.W., Fraser, D., DeLuca, H.F., Holick, M.F., Belsey, R.E., Clark, M.B., Murray, T.M. N. Engl. J. Med. (1975) [Pubmed]
  2. Analysis of GNAS1 and overlapping transcripts identifies the parental origin of mutations in patients with sporadic Albright hereditary osteodystrophy and reveals a model system in which to observe the effects of splicing mutations on translated and untranslated messenger RNA. Rickard, S.J., Wilson, L.C. Am. J. Hum. Genet. (2003) [Pubmed]
  3. Relationship of estrogen and pregnancy to calcium homeostasis in pseudohypoparathyroidism. Breslau, N.A., Zerwekh, J.E. J. Clin. Endocrinol. Metab. (1986) [Pubmed]
  4. Demonstration of a diurnal variation in serum parathyroid hormone in primary and secondary hyperparathyroidism. Sinha, T.K., Miller, S., Feming, J., Khairi, R., Edmondson, J., Johnston, C.C., Bell, N.H. J. Clin. Endocrinol. Metab. (1975) [Pubmed]
  5. DNA methylation based testing of 450 patients suspected of having Prader-Willi syndrome. Gillessen-Kaesbach, G., Gross, S., Kaya-Westerloh, S., Passarge, E., Horsthemke, B. J. Med. Genet. (1995) [Pubmed]
  6. Mental deficiency in pseudohypoparathyroidism type I is associated with Ns-protein deficiency. Farfel, Z., Friedman, E. Ann. Intern. Med. (1986) [Pubmed]
  7. Evidence for normal antidiuretic responses to endogenous and exogenous arginine vasopressin in patients with guanine nucleotide-binding stimulatory protein-deficient pseudohypoparathyroidism. Moses, A.M., Weinstock, R.S., Levine, M.A., Breslau, N.A. J. Clin. Endocrinol. Metab. (1986) [Pubmed]
  8. 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. Nat. Genet. (2005) [Pubmed]
  9. Defect of receptor-cyclase coupling protein in psudohypoparathyroidism. Farfel, Z., Brickman, A.S., Kaslow, H.R., Brothers, V.M., Bourne, H.R. N. Engl. J. Med. (1980) [Pubmed]
  10. Prolactin deficiency in pseudohypoparathyroidism. Carlson, H.E., Brickman, A.S., Bottazzo, G.F. N. Engl. J. Med. (1977) [Pubmed]
  11. Selective deficiency of 1,25-dihydroxycholecalciferol. A cause of isolated skeletal resistance to parathyroid hormone. Metz, S.A., Baylink, D.J., Hughes, M.R., Haussler, M.R., Robertson, R.P. N. Engl. J. Med. (1977) [Pubmed]
  12. Glucose tolerance and insulin secretion in patients with parathyroid disorders. Effect of serum calcium on insulin release. Yasuda, K., Hurukawa, Y., Okuyama, M., Kikuchi, M., Yoshinaga, K. N. Engl. J. Med. (1975) [Pubmed]
  13. Altered activity of the nucleotide regulatory site in the parathyroid hormone-sensitive adenylate cyclase from the renal cortex of a patient with pseudohypoparathyroidism. Drezner, M.K., Burch, W.M. J. Clin. Invest. (1978) [Pubmed]
  14. Effects of active vitamin D3 and parathyroid hormone on the serum osteocalcin in idiopathic hypoparathyroidism and pseudohypoparathyroidism. Mizunashi, K., Furukawa, Y., Miura, R., Yumita, S., Sohn, H.E., Yoshinaga, K. J. Clin. Invest. (1988) [Pubmed]
  15. Pseudohypoparathyroidism. Van Dop, C., Bourne, H.R. Annu. Rev. Med. (1983) [Pubmed]
  16. 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. Am. J. Med. (1983) [Pubmed]
  17. Endocrine manifestations of stimulatory G protein alpha-subunit mutations and the role of genomic imprinting. Weinstein, L.S., Yu, S., Warner, D.R., Liu, J. Endocr. Rev. (2001) [Pubmed]
  18. Paternal uniparental isodisomy of chromosome 20q--and the resulting changes in GNAS1 methylation--as a plausible cause of pseudohypoparathyroidism. Bastepe, M., Lane, A.H., Jüppner, H. Am. J. Hum. Genet. (2001) [Pubmed]
  19. 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.A. Am. J. Hum. Genet. (2003) [Pubmed]
  20. Deficient activity of receptor-cyclase coupling protein in platelets of patients with pseudohypoparathyroidism. Farfel, Z., Bourne, H.R. J. Clin. Endocrinol. Metab. (1980) [Pubmed]
  21. Selective resistance to parathyroid hormone in cultured skin fibroblasts from patients with pseudohypoparathyroidism type Ib. Silve, C., Santora, A., Breslau, N., Moses, A., Spiegel, A. J. Clin. Endocrinol. Metab. (1986) [Pubmed]
  22. 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.S. J. Clin. Endocrinol. Metab. (2003) [Pubmed]
  23. Human placental production of 1 alpha,25-dihydroxyvitamin D3: biochemical characterization and production in normal subjects and patients with pseudohypoparathyroidism. Zerwekh, J.E., Breslau, N.A. J. Clin. Endocrinol. Metab. (1986) [Pubmed]
  24. 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. Am. J. Hum. Genet. (2005) [Pubmed]
  25. Distinct patterns of abnormal GNAS imprinting in familial and sporadic pseudohypoparathyroidism type IB. Liu, J., Nealon, J.G., Weinstein, L.S. Hum. Mol. Genet. (2005) [Pubmed]
  26. Normal parathyroid hormone responsiveness of bone-derived cells from a patient with pseudohypoparathyroidism. Ish-Shalom, S., Rao, L.G., Levine, M.A., Fraser, D., Kooh, S.W., Josse, R.G., McBroom, R., Wong, M.M., Murray, T.M. J. Bone Miner. Res. (1996) [Pubmed]
  27. Fibroblast growth factor-23 is regulated by 1alpha,25-dihydroxyvitamin D. Collins, M.T., Lindsay, J.R., Jain, A., Kelly, M.H., Cutler, C.M., Weinstein, L.S., Liu, J., Fedarko, N.S., Winer, K.K. J. Bone Miner. Res. (2005) [Pubmed]
  28. 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. J. Clin. Endocrinol. Metab. (1995) [Pubmed]
  29. Massive cerebral calcifications associated with increased renal phosphate reabsorption. Weisinger, J.R., Mogollón, A., Lander, R., Bellorin-Font, E., Riera, R., Abadí, I., Paz-Martínez, V. Arch. Intern. Med. (1986) [Pubmed]
  30. Normal left ventricular performance documented by Doppler echocardiography in patients with long-standing hypocalcemia. Vered, I., Vered, Z., Perez, J.E., Jaffe, A.S., Whyte, M.P. Am. J. Med. (1989) [Pubmed]
  31. Plasma cyclic nucleotide determination in the investigation of hypocalcemia. Mallet, E., Basuyau, J.P., Brunelle, P., de Menibus, C.H. Pediatr. Res. (1979) [Pubmed]
  32. Sensorineural hearing loss owing to deficient G proteins in patients with pseudohypoparathyroidism: results of a multicentre study. Koch, T., Lehnhardt, E., Böttinger, H., Pfeuffer, T., Palm, D., Fischer, B., Radeke, H., Hesch, R.D. Eur. J. Clin. Invest. (1990) [Pubmed]
  33. Cerebellopontine calcification: a new entity of idiopathic intracranial calcification? Saito, Y., Shibuya, M., Hayashi, M., Matsuoka, S., Kaneko, K., Chikumaru, Y., Saito, K., Matsui, A., Kimura, S. Acta Neuropathol. (2005) [Pubmed]
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