1. Fisher, N. G., Armitage, A., McGonigle R. J., Gilbert, T. J. (2001). Hypocalcaemic cardiomyopathy; the relationship between myocardial damage, left ventricular function, calcium and ECG changes in a patient with idiopathic hypocalcaemia. Eur J Heart Failure. 3, 373-376.

2. Tomlinson, S., Hendy, G. N., and O'Riordan, J. H. (1976). A simplified assessment of response to parathyroid hormone in hypoparathyroid patients. Lancet 1, 62-64.

3. Gidding, S. S., Minciotti, A. L., and Langman, C. B. (1988). Unmasking of hypoparathyroidism in familial partial DiGeorge syndrome by challenge with disodium edetate. N. Engl. J. Med. 319, 1589-1591.

4. Lienhardt, A., Bai, M., Lagarde, J. P., Rigaud, M., Zhang, Z., Jiang, Y. , Kottler, M. L., Brown, E. M., and Garabedian, M. (2001). Activating mutations of the calcium-sensing receptor: management of hypocalcemia. J Clin. Endocrinol. Metab 86, 5313-5323.

5. Arnold, A., Horst, S. A., Gardella, T. J., Baba, H., Levine, M. A., and Kronenberg, H. M. (1990). Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism. J. Clin. Invest 86, 1084-1087.

6. McKusick, V. Online Mendelian Inheritance in Man (OMIM). Baltimore: Johns Hopkins University Press; 2001.

7. Parkinson, D. B., and Thakker, R. V. (1992). A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism. Nat. Genet. 1, 149-152.

8. Sunthornthepvarakul, T., Churesigaew, S., and Ngowngarmratana, S. (1999). A novel mutation of the signal peptide of the preproparathyroid hormone gene associated with autosomal recessive familial isolated hypoparathyroidism. J. Clin. Endocrinol. Metab 84, 3792-3796.

9. Thakker, R. V., Davies, K. E., Whyte, M. P., Wooding, C., and O'Riordan, J. L. H.(1990). Mapping the gene causing X-linked recessive idiopathic hypoparathyroidism to Xq26-Xq27 by linkage studies. J. Clin. Invest 86, 40-45.

10. Trump, D., Dixon, P. H., Mumm, S., Wooding, C., Davies, K. E., Schlessinger, D., Whyte, M. P., and Thakker, R. V. (1998). Localisation of X linked recessive idiopathic hypoparathyroidism to a 1.5 Mb region on Xq26-q27. J. Med. Genet. 35, 905-909.

11. Mumm, S., Whyte, M. P., Thakker, R. V., Buetow, K. H., and Schlessinger, D. (1997). mtDNA analysis shows common ancestry in two kindreds with X-linked recessive hypoparathyroidism and reveals a heteroplasmic silent mutation. Am. J. Hum. Genet. 60, 153-159.

12. Pollak, M. R., Brown, E. M., Estep, H. L., McLaine, P. N., Kifor, O., Park, J., Hebert, S. C., Seidman, C. E., and Seidman, J. G. (1994). Autosomal dominant hypocalcaemia caused by a Ca2+-sensing receptor gene mutation. Nat. Genet. 8, 303-307.

13. Hendy, G. N., D'Souza-Li, L., Yang, B., Canaff, L., and Cole, D. E. (2000). Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. Hum. Mutat. 16, 281-296.

14. Hendy, G. N., Minutti, C., Canaff, L., Pidasheva, S., Yang, B., Nouhi, Z., Zimmerman, D., Wei, C., and Cole, D. E. (2003). Recurrent familial hypocalcemia due to germline mosaicism for an activating mutation of the calcium-sensing receptor gene. J. Clin. Endocrinol. Metab. 88, 3674-3681.

15. Ray, K., Hauschild, B. C., Steinbach, P. J., Goldsmith, P. K., Hauache, O., and Spiegel, A. M. (1999). Identification of the cysteine residues in the amino-terminal extracellular domain of the human Ca2+ receptor critical for dimerization. Implications for function of monomeric Ca2+ receptor. J. Biol. Chem. 274, 27642-27650.

16. Pidasheva, S., D'Souza-Li, L., Canaff, L., Cole, D.E., and Hendy, G.N. (2004). CASRdb: calcium-sensing receptor locus-specific database for mutations causing familial (benign) hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. Hum. Mutat. 24, 107-11.

17. Ding, C., Buckingham, B., and Levine, M. A. (2001). Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB. J. Clin. Invest 108, 1215-1220.

18. Thomee, C., Schubert, S.W., Parma, J., Le, P.Q., Hashemolhosseini, S., Wegner, M., and Abramowicz, M.J. (2005). GCMB mutation in familial isolated hypoparathyroidism with residual secretion of parathyroid hormone. J. Clin. Endocrinol. Metab. Feb 22 (e-pub)

19. Kanemura, Y., Hiraga, S., Arita, N., Ohnishi, T., Izumoto, S., Mori, K. , Matsumura, H., Yamasaki, M., Fushiki, S., and Yoshimine, T. (1999). Isolation and expression analysis of a novel human homologue of the Drosophila glial cells missing (gcm) gene. FEBS Lett. 442, 151-156.

20. Gunther, T., Chen, Z. F., Kim, J., Priemel, M., Rueger, J. M., Amling, M., Moseley, J. M., Martin, T. J., Anderson, D. J., and Karsenty, G. (2000). Genetic ablation of parathyroid glands reveals another source of parathyroid hormone. Nature 406, 199-203.

21. Okabe, M., and Graham, A. (2004). The origin of the parathyroid gland. Proc. Natl. Acad. Sci. USA 101, 17716-17719

22. DiGeorge, A. M. (1965). Discussions on a new concept of the cellular basis of immunity. J. Pediatr. 67, 907-908.

23. Driscoll, D. A., Salvin, J., Sellinger, B., Budarf, M. L., McDonald-McGinn, D. M., Zackai, E. H., and Emanuel, B. S. (1993). Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis. J Med. Genet. 30, 813-817.

24. Botto, L. D., May, K., Fernhoff, P. M., Correa, A., Coleman K., Rasmussen, S. A., et al. (2003). A population based study of the 22q11.2 deletion: Phenotype, incidence and contribution to major birth defects in the population. Pediatrics 112, 101-107.

25. Weinzimer, S.A. (2001). Endocrine aspects of the 22q11.1 deletion. Genet. Med. 3, 19-22.

26. Liu, H., Abecasis., G. R., Heath, S., Knowles, A., Demars S., Chen, Y.-J., et al. (2002). Genetic variation in the 22q11 locus and susceptibility to schizophrenia. Proc. Natl. Acad. Sci. USA 99, 16859-16864.

27. Baldini, A. (2004). DiGeorge syndrome: an update. Curr Opinion Cardiol. 19, 201-204.

28. Yagi, H., Furutani, Y., Hamada, H., Sasaki, T., Asakawa, S., Minoshima, S., et al. (2003). Role of TBX1 in human del22q11.2 syndrome. Lancet 362, 1366-1373.

29. Miller, J. D., Bowker, B. M., Cole, D. E.C., and Guyda, H. J. (1983). DiGeorge's syndrome in monozygotic twins. Treatment with calcitriol. Am. J. Dis. Child 137, 438-440.

30. Goodship, J., Cross, I., Scambler, P., and Burn, J. (1995). Monozygotic twins with chromosome 22q11 deletion and discordant phenotype. J. Med. Genet. 32, 746-748.

31. Hillebrand, G., Siebert, R., Simeoni, E., and Santer, R. (2000). DiGeorge syndrome with discordant phenotype in monozygotic twins. J. Med. Genet. 37, E23.

32. Daw, S. C., Taylor, C., Kraman, M., Call, K., Mao, J., Schuffenhauer, S., Meitinger, T., Lipson, T., Goodship, J., and Scambler, P. (1996). A common region of 10p deleted in DiGeorge and velocardiofacial syndromes. Nat. Genet. 13, 458-460.

33. Gottlieb, S., Driscoll, D. A., Punnett, H. H., Sellinger, B., Emanuel, B. S., and Budarf, M. L. (1998). Characterization of 10p deletions suggests two nonoverlapping regions contribute to the DiGeorge syndrome phenotype. Am. J. Hum. Genet. 62, 495-498.

34. Barakat, A. Y., D'Albora, J. B., Martin, M. M., and Jose, P. A. (1977). Familial nephrosis, nerve deafness, and hypoparathyroidism. J. Pediatr. 91, 61-64.

35. Bilous, R. W., Murty, G., Parkinson, D. B., Thakker, R. V., Coulthard, M. G., Burn, J., Mathias, D., and Kendall-Taylor, P. (1992). Autosomal dominant familial hypoparathyroidism, sensorineural deafness, and renal dysplasia. N. Engl. J. Med. 327, 1069-1074.

36. Schuffenhauer, S., Lichtner, P., Peykar-Derakhshandeh, P., Murken, J., Haas, O. A., Back, E., Wolff, G., Zabel, B., Barisic, I., Rauch, A., Borochowitz, Z., Dallapiccola, B., Ross, M., and Meitinger, T. (1998). Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2). Eur. J. Hum. Genet. 6, 213-225.

37. Van Esch, H., Groenen, P., Daw, S., Poffyn, A., Holvoet, M., Scambler, P., Fryns, J. P., Van den,WV., and Devriendt, K. (1999). Partial DiGeorge syndrome in two patients with a 10p rearrangement. Clin. Genet. 55, 269-276.

38. Lichtner, P., Konig, R., Hasegawa, T., Van Esch, H., Meitinger, T., and Schuffenhauer, S. (2000). An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14. J Med. Genet. 37, 33-37.

39. Van Esch, H., Groenen, P., Nesbit, M. A., Schuffenhauer, S., Lichtner, P., Vanderlinden, G., Harding, B., Beetz, R., Bilous, R. W., Holdaway, I., Shaw, N. J., Fryns, J. P., Van de Ven,W., Thakker, R. V., and Devriendt, K. (2000). GATA3 haplo-insufficiency causes human HDR syndrome. Nature 406, 419-422.

40. Nesbit, M. A., Bowl, M. R., Harding, B., Ali,A., Ayala, A., Crowe, C., et al. (2004). Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome. J. Biol. Chem. 279, 22624-22634.

41. Kenny, F. M., and Linarelli, L. (1966). Dwarfism and cortical thickening of tubular bones. Transient hypocalcemia in a mother and son. Am. J. Dis. Child 111, 201-207.

42. Caffey, J. (1967). Congenital stenosis of medullary spaces in tubular bones and calvaria in two proportionate dwarfs--mother and son; coupled with transitory hypocalcemic tetany. Am. J. Roentgenol. Radium. Ther. Nucl. Med. 100, 1-11.

43. Teebi, A. S. (2000). Hypoparathyroidism, retarded growth and development, and dysmorphism or Sanjad-Sakati syndrome: an Arab disease reminiscent of Kenny-Caffey syndrome. J. Med. Genet. 37, 145.

44. Parvari, R., Hershkovitz, E., Kanis, A., Gorodischer, R., Shalitin, S., Sheffield, V. C., and Carmi, R. (1998). Homozygosity and linkage-disequilibrium mapping of the syndrome of congenital hypoparathyroidism, growth and mental retardation, and dysmorphism to a 1-cM interval on chromosome 1q42-43. Am. J. Hum. Genet. 63, 163-169.

45. The HRD/Autosomal Recessive Kenny-Caffey Syndrome Consortium. (2002). Mutation of TBCE causes hypopaarathyroidism-returdation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. Nat. Genet. 32, 448-452

46. Seneca, S., De Meirleir, L., De Schepper, J., Balduck, N., Jochmans, K., Liebaers, I., and Lissens, W. (1997). Pearson marrow pancreas syndrome: a molecular study and clinical management. Clin. Genet. 51, 338-342.

47. Tengan, C. H., Kiyomoto, B. H., Rocha, M. S., Tavares, V. L., Gabbai, A. A., and Moraes, C. T. (1998). Mitochondrial encephalomyopathy and hypoparathyroidism associated with a duplication and a deletion of mitochondrial deoxyribonucleic acid. J. Clin. Endocrinol. Metab 83, 125-129.

48. Wilichowski, E., Gruters, A., Kruse, K., Rating, D., Beetz, R., Korenke, G. C., Ernst, B. P., Christen, H. J., and Hanefeld, F. (1997). Hypoparathyroidism and deafness associated with pleioplasmic large scale rearrangements of the mitochondrial DNA: a clinical and molecular genetic study of four children with Kearns-Sayre syndrome. Pediatr. Res. 41, 193-200.

49. Tyni, T., Rapola, J., Palotie, A., and Pihko, H. (1997). Hypoparathyroidism in a patient with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency caused by the G1528C mutation. J. Pediatr. 131, 766-768.

50. Eisenbarth, G. S., and Gottlieb, P. A. (2004). Autoimmune polyendocrine syndromes. New Engl. J. Med. 350, 2068-2079.

51. Li, Y., Song, Y. H., Rais, N., Connor, E., Schatz, D., Muir, A., and Maclaren, N. (1996). Autoantibodies to the extracellular domain of the calcium sensing receptor in patients with acquired hypoparathyroidism. J. Clin. Invest. 97, 910-914.

52. Goswami, R., Brown, E. M., Kochupillai, N., Gupta, N., Rani, R., Kifor, O., Chattopadhyay N. (2004). Prevalence of calcium sensing receptor autoantibodies in patients with sporadic idiopathic hypoparathyroidism. Eur. J. Endocrinol. 150, 9-18.

53. Soderbergh, A., Myhre, A.G., Ekwall, O., Gebre-Medhin, G., Hedstrand, H., Landgren, E., et al. (2004). Prevalence and clinical associations in 10 defined autoantibodies in autoimmune polyendocrine syndrome type 1. J. Clin. Endocrinol. Metab. 89, 557-562.

54. Gylling, M., Kaariainen, E., Vaisanen, R., Kerosuo, L., Solin, M-L., Halme, L., Saari, S., Halonen, M., Kampe, O., Perheentupa, J., and Miettinene., A. (2003) The hypoparathyroidism of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy: protective effect of male sex. J. Clin. Endocrinol. Metab. 88, 4602-4608.

55. Mayer, A., Ploix, C., Orgiazzi, J., Desbos, A., Moreira, A., Vidal, H., Monier, J-C., Bienvenu, J., and Fabien, N. (2004). Calcium-sensing receptor autoantibodies are relevant makers of acquired hypoparathyroidism. J. Clin. Endocrinol. Metab. 89, 4484-4488.

56. Eisenbarth, G. S., and Gottlieb, P. A. (2004). Hypoparathyroidism and autoimmune polyendocrine syndromes. New Engl. J. Med. 351, 1032-1033.

57. Buzi, F., Badolato, R., Mazza, C., Giliani, S., Notarangelo, L. D., Radetti, G., Plebani, A., and Notarangelo, L. D. (2003). Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome: Time to review diagnostic criteria? J. Clin. Endocrinol. Metab. 88, 3146-3148.

58. Finnish-German Consortium (1997). An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains. The Finnish-German APECED Consortium. Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy. Nat. Genet. 17, 399-403.

59. Nagamine, K., Peterson, P., Scott, H. S., Kudoh, J., Minoshima, S., Heino, M., Krohn, K. J., Lalioti, M. D., Mullis, P. E., Antonarakis, S. E., Kawasaki, K., Asakawa, S., Ito, F., and Shimizu, N. (1997). Positional cloning of the APECED gene. Nat. Genet. 17, 393-398.

60. Halonen, M., Kangas, H., Ruppell, T., Ilmarinen, T., Ollila, J., Kolmer, M., Vihinen, M., Palvimo, J., Saarela, J., Ulmanen, I., Eskelin, P. (2004). APECED-causing mutations in AIRE reveal the functional domains of the protein. Hum. Mutat. 23, 245-257.

61. Wilson, L. C., and Trembath, R. C. (1994). Albright's hereditary osteodystrophy. J. Med. Genet. 31, 779-784.

62. Levine, M. A. (1999). Pseudohypoparathyroidism: from bedside to bench and back. J. Bone Miner. Res. 14, 1255-1260.

63. Levine, M. A. (2000). The molecular basis for parathyroid hormone resistance in pseudohypoparathyroidism. In "The Genetics of Osteoporosis and Metabolic Bone Disease", (Econs, M. J.ed.), pp.179-209. Humana Press, Totawa NJ.

64. Spiegel, A. M. and Weinstein, L. S. (2001). Pseudohypoparathyroidism. In "The Metabolic and Molecular Bases of Inherited Disease", 8th ed. (Scriver, C. R., Beaudet, A. L., Sly, W. S., and Valle, D.eds.), pp.4205-4221. McGraw-Hill, New York.

65. Cole, D. E. C., Carpenter, T. O., and Goltzman, D. (1989). Calcium homeostasis and disorders of bone and mineral metabolism. In "Pediatric Endocrinology", Second ed. (Collu, R., Ducharme, J. R., and Guyda, H. J. eds.), pp.509-580. Raven Press, New York.

66. Albright, F., Burnett, C. H., and Smith, P. H. (1942). Pseudohypoparathyroidism: An example of 'Seabright-Bantam syndrome'. Endocrinol. 30, 922-932.

67. Ong, K. K., Amin, R., and Dunger, D. B. (2000). Pseudohypoparathyroidism--another monogenic obesity syndrome. Clin. Endocrinol. (Oxf) 52, 389-391.

68. Murray, T. M., Rao, L. G., Wong, M. M., Waddell, J. P., McBroom, R., Tam, C. S., Rosen, F., and Levine, M. A. (1993). Pseudohypoparathyroidism with osteitis fibrosa cystica: direct demonstration of skeletal responsiveness to parathyroid hormone in cells cultured from bone. J. Bone Miner. Res. 8, 83-91.

69. Ish-Shalom, S., Rao, L. G., Levine, M. A., Fraser, D., Kooh, S. W., Josse, R. G., McBroom, R., Wong, M. M., and Murray, T. M. (1996). Normal parathyroid hormone responsiveness of bone-derived cells from a patient with pseudohypoparathyroidism. J. Bone Miner. Res. 11, 8-14.

70. Brickman, A. S., Stern, N., and Sowers, J. R. (1988). Hypertension in pseudohypoparathyroidism type I. Am. J. Med. 85, 785-792.

71. Koch, T., Lehnhardt, E., Bottinger, H., Pfeuffer, T., Palm, D., Fischer, B., Radeke, H., and Hesch, R. D. (1990). Sensorineural hearing loss owing to deficient G proteins in patients with pseudohypoparathyroidism: results of a multicentre study. Eur. J Clin. Invest 20, 416-421.

72. Goadsby, P. J., Lollin, Y., and Kocen, R. S. (1991). Pseudopseudohypoparathyroidism and spinal cord compression. J Neurol. Neurosurg. Psychiatry 54, 929-931.

73. Weinstock, R. S., Wright, H. N., Spiegel, A. M., Levine, M. A., and Moses, A. M. (1986). Olfactory dysfunction in humans with deficient guanine nucleotide- binding protein. Nature 322, 635-636.

74. Doty, R. L., Fernandez, A. D., Levine, M. A., Moses, A., and McKeown, D. A. (1997). Olfactory dysfunction in type I pseudohypoparathyroidism: dissociation from Gs alpha protein deficiency. J. Clin. Endocrinol. Metab 82, 247-250.

75. Phelan, M. C., Rogers, R. C., Clarkson, K. B., Bowyer, F. P., Levine, M. A., Estabrooks, L. L., Severson, M. C., and Dobyns, W. B. (1995). Albright hereditary osteodystrophy and del(2) (q37.3) in four unrelated individuals. Am. J. Med. Genet. 58, 1-7.

76. Farfel, Z., Brickman, A. S., Kaslow, H. R., Brothers, V. M., and Bourne, H. R. (1980). Defect of receptor-cyclase coupling protein in psudohypoparathyroidism. N. Engl. J. Med. 303, 237-242.

77. Levine, M. A., Downs, R. W., Jr., Singer, M., Marx, S. J., Aurbach, G. D., and Spiegel, A. M. (1980). Deficient activity of guanine nucleotide regulatory protein in erythrocytes from patients with pseudohypoparathyroidism. Biochem. Biophys. Res. Commun. 94, 1319-1324.

78. Levine, M. A., Jap, T. S., Mauseth, R. S., Downs, R. W., and Spiegel, A. M. (1986). Activity of the stimulatory guanine nucleotide-binding protein is reduced in erythrocytes from patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism: biochemical, endocrine, and genetic analysis of Albright's hereditary osteodystrophy in six kindreds. J. Clin. Endocrinol. Metab 62, 497-502.

79. Beaudet, A. L. (2004) Complex imprinting. Nat. Genet. 36:793-5.

80. Davies, S. J., and Hughes, H. E. (1993). Imprinting in Albright's hereditary osteodystrophy. J Med. Genet. 30, 101-103.

81. Liu, J., Litman, D., Rosenberg, M. J., Yu, S., Biesecker, L. G., and Weinstein, L. S. (2000). A GNAS1 imprinting defect in pseudohypoparathyroidism type IB. J Clin. Invest 106, 1167-1174.

82. Zheng, H., Radeva, G., McCann, J. A., Hendy, G. N., and Goodyer, C. G. (2001). Galphas transcripts are biallelically expressed in the human kidney cortex: implications for pseudohypoparathyroidism type 1b. J Clin. Endocrinol. Metab 86, 4627-4629.

83. Weinstein, L. S., Yu, S., and Ecelbarger, C. A. (2000). Variable imprinting of the heterotrimeric G protein G(s) alpha-subunit within different segments of the nephron. Am. J Physiol Renal Physiol 278, F507-F514.

84. Weinstein, L. S., Yu, S., Warner, D. R., and Liu, J. (2001). Endocrine manifestations of stimulatory G-protein alpha-subunit mutations and the role of genomic imprinting. Endocr. Rev. 22, 675-705.

85. Weinstein, L. S., Liu, J., Sakamoto, A., Xie, T., and Chen, M. (2004). Minireview: GNAS: normal and abnormal functions. Endocrinology. 145, 5459-5464.

86. Yu, S., Yu, D., Lee, E., Eckhaus, M., Lee, R., Corria, Z., Accili, D., Westphal, H., and Weinstein, L. S. (1998). Variable and tissue-specific hormone resistance in heterotrimeric Gs protein alpha-subunit (Gsalpha) knockout mice is due to tissue-specific imprinting of the gsalpha gene. Proc. Natl. Acad. Sci. USA 95, 8715-8720.

87. Levine, M. A., Ahn, T. G., Klupt, S. F., Kaufman, K. D., Smallwood, P. M., Bourne, H. R., Sullivan, K. A., and Van Dop, C. (1988). Genetic deficiency of the alpha subunit of the guanine nucleotide- binding protein Gs as the molecular basis for Albright hereditary osteodystrophy. Proc. Natl. Acad. Sci. U. S. A 85, 617-621.

88. Patten, J. L., Johns, D. R., Valle, D., Eil, C., Gruppuso, P. A., Steele, G., Smallwood, P. M., and Levine, M. A. (1990). Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy. N. Engl. J Med. 322, 1412-1419.

89. Weinstein, L. S., Gejman, P. V., Friedman, E., Kadowaki, T., Collins, R. M., Gershon, E. S., and Spiegel, A. M. (1990). Mutations of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis. Proc. Natl. Acad. Sci. U. S. A 87, 8287-8290.

90. Aldred, M. A., and Trembath, R. C. (2000). Activating and inactivating mutations in the human GNAS1 gene. Hum. Mutat. 16, 183-189.

91. Ahrens, W., Hiort, O., Staedt, P., Kirschner, T., Marschke, C., and Kruse, K. (2001). Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy. J Clin. Endocrinol. Metab 86, 4630-4634.

92. Aldred, M. A., Bagshaw, R. J., Macdermot, K., Casson, D., Murch, S. H., Walker-Smith, J. A., and Trembath, R. C. (2000). Germline mosaicism for a GNAS1 mutation and Albright hereditary osteodystrophy. J Med. Genet. 37, E35.

93. Namnoum, A. B., Merriam, G. R., Moses, A. M., and Levine, M. A. (1998). Reproductive dysfunction in women with Albright's hereditary osteodystrophy. J Clin. Endocrinol. Metab 83, 824-829.

94. McIlroy, J., Dryburgh, F., Hinnie, J., Dargie, R., and Al Rawi, A. (1999). Oestrogen and calcium homeostasis in women with hypoparathyroidism. BMJ 319, 1252-1253.

95. Breslau, N. A., and Zerwekh, J. E. (1986). Relationship of estrogen and pregnancy to calcium homeostasis in pseudohypoparathyroidism. J Clin. Endocrinol. Metab 62, 45-51.

96. Germain-Lee, E. L., Groman, J., Crane, J. L., Jan de Beur, S. M., and Levine, M. A. (2003). Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multihormone resistance. J. Clin. Endocrinol. Metab. 88, 4059-4069.

97. Mantovani, G., Maghnie, M., Weber, G., De Menis, E., Brunelli, V., Cappa, M., Loli, P., Beck-Peccoz, P., and Spada, A. (2003). Growth hormone-releasing hormone resistance in pseudohypoparathyroidism type Ia: new evidence for imprinting of the Gs alpha gene. J. Clin. Endocrinol. Metab. 88, 4070-4074.

98. Bastepe, M., and Juppner, H. (2003). Pseudohypoparathyroidism and mechanisms of resistance toward multiple hormones: molecular evidence to clinical presentation. J. Clin. Endocrinol. Metab. 88:4055-4058.

99. Laspa, E., Bastepe, M., Juppner, H., and 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. J Clin Endocrinol Metab. 89, 5942-5947

100. Schipani, E., Weinstein, L. S., Bergwitz, C., Iida-Klein, A., Kong, X. F., Stuhrmann, M., Kruse, K., Whyte, M. P., Murray, T., Schmidtke, J., and Levine,M A. (1995). Pseudohypoparathyroidism type Ib is not caused by mutations in the coding exons of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene. J Clin. Endocrinol. Metab 80, 1611-1621.

101. Fukumoto, S., Suzawa, M., Takeuchi, Y., Kodama, Y., Nakayama, K., Ogata, E., Matsumoto, T., and Fujita, T. (1996). Absence of mutations in parathyroid hormone (PTH)/PTH-related protein receptor complementary deoxyribonucleic acid in patients with pseudohypoparathyroidism type Ib. J Clin. Endocrinol. Metab 81, 2554-2558.

102. Bettoun, J. D., Minagawa, M., Kwan, M. Y., Lee, H. S., Yasuda, T., Hendy, G. N., Goltzman, D., and White, J. H. (1997). Cloning and characterization of the promoter regions of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene: analysis of deoxyribonucleic acid from normal subjects and patients with pseudohypoparathyroidism type 1b. J Clin. Endocrinol. Metab 82, 1031-1040.

103. Juppner, 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., and Vikkula, M. (1998). The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3. Proc. Natl. Acad. Sci. U. S. A 95, 11798-11803.

104. Jan de Beur, S. M., Ding, C. L., LaBuda, M. C., Usdin, T. B., and Levine, M. A. (2000). Pseudohypoparathyroidism 1b: exclusion of parathyroid hormone and its receptors as candidate disease genes. J Clin. Endocrinol. Metab 85, 2239-2246.

105. Bastepe, M., Lane, A. H., and Juppner, H. (2001). Paternal uniparental isodisomy of chromosome 20q--and the resulting changes in GNAS1 methylation--as a plausible cause of pseudohypoparathyroidism. Am. J Hum. Genet. 68, 1283-1289.

106. Bastepe, M., Pincus, J. E., Sugimoto, T., Tojo, K., Kanatani, M., Azuma, Y., Kruse, K., Rosenbloom, A. L., Koshiyama, H., and Juppner, 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. Hum. Mol. Genet. 10, 1231-1241.

107. Bastepe, M., Frohlich, L. F., Hendy, G. N., Indridason, O. S., Josse, R. G., Koshiyama, H., Korkko, J., Nakamoto, J. M., Rosenbloom, A. L., Slyper, A. H., Sugimoto, T., Tsatsoulis, A., Crawford, J. D., and Juppner. H. (2003). Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS. J. Clin. Invest. 112, 1255-1263.

108. Bastepe, M., Frohlich, L. F., Linglart, A., Abu-Zahra, H. S., Tojo, K., Ward, L. M., and Juppner, H. (2005). Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib. Nat. Genet. 37, 25-27.

109. Wu, W. I., Schwindinger, W. F., Aparicio, L. F., and Levine, M. A. (2001). Selective resistance to parathyroid hormone caused by a novel uncoupling mutation in the carboxyl terminus of G alpha(s). A cause of pseudohypoparathyroidism type Ib. J. Biol. Chem. 276, 165-171.

110. Linglart, A., Carel, J. C., Garabedian, M., Le, T., Mallet, E., and Kottler, M. L. (2002). GNAS1 lesions in pseudohypoparathyroidism Ia and Ic: genotype phenotype relationship and evidence of the maternal transmission of the hormonal resistance. J. Clin. Endocrinol. Metab. 87, 189-197.

111. Drezner, M., Neelon, F. A., and Lebovitz, H. E. (1973). Pseudohypoparathyroidism type II: a possible defect in the reception of the cyclic AMP signal. N. Engl. J Med. 289, 1056-1060.

112. Weinstein, L. S. (2000). Fibrous dysplasia and the McCune-Albright syndrome. In "The Genetics of Osteoporosis and Metabolic Bone Disease", (Econs, M. J.ed.), pp.163-177. Humana Press, Totawa NJ.

113. Cole, D. E.C., Fraser, F. C., Glorieux, F. H., Jequier, S., Marie, P. J., Reade, T. M., and Scriver, C. R. (1983). Panostotic fibrous dysplasia: a congenital disorder of bone with unusual facial appearance, bone fragility, hyperphosphatasemia, and hypophosphatemia. Am. J. Med. Genet. 14, 725-735.

114. Cole, D. E. and Whyte, M. P. (1997). Hyperphosphatasia Syndromes. In "Studies in Stomatology and Craniofacial Biology", (Cohen, M. M., Jr., and Baum, B. J.eds.), pp.245-272. IOS Press, Amsterdam.

115. Iiri, T., Herzmark, P., Nakamoto, J. M., Van Dop, C., and Bourne, H. R. (1994). Rapid GDP release from Gs alpha in patients with gain and loss of endocrine function. Nature 371, 164-168.

116. Eddy, M. C., De Beur, S. M., Yandow, S. M., McAlister, W. H., Shore, E. M., Kaplan, F. S., Whyte, M. P., and Levine, M. A. (2000). Deficiency of the alpha-subunit of the stimulatory G protein and severe extraskeletal ossification. J Bone Miner. Res. 15, 2074-2083.

117. Kaplan, F. S., and Shore, E. M. (2000). Progressive osseous heteroplasia. J Bone Miner. Res. 15, 2084-2094.

118. Yeh, G. L., Mathur, S., Wivel, A., Li, M., Gannon, F. H., Ulied, A., Audi, L., Olmstead, E. A., Kaplan, F. S., and Shore, E. M. (2000). GNAS1 mutation and Cbfa1 misexpression in a child with severe congenital platelike osteoma cutis. J Bone Miner. Res. 15, 2063-2073.

119. Gardella, T. J., and Juppner H. (2000). Interaction of PTH and PTHrP with their receptors. Rev. Endocr. Metab. Disord. 1, 317-329.

120. Blomstrand, S., Claesson, I., and Save-Soderbergh, J. (1985). A case of lethal congenital dwarfism with accelerated skeletal maturation. Pediatr. Radiol. 15, 141-143.

121. Loshkajian, A., Roume, J., Stanescu, V., Delezoide, A.-L., Stampf, F., and Maroteaux, P. (1997) Familial Blomstrand chondrodysplasia with advanced skeletal maturation: Further delineation. Am. J. Med. Genet. 71, 283-288.

122. Zhang, P., Jobert, A. S., Couvineau, A., and Silve, C. (1998). A homozygous inactivating mutation in the parathyroid hormone/parathyroid hormone-related peptide receptor causing Blomstrand chondrodysplasia. J Clin. Endocrinol. Metab 83, 3365-3368.

123. Karperien, M., van der Harten, H. J., van Schooten, R., Farih-Sips, H., den Hollander, N. S., Kneppers, S. L., Nijweide, P., Papapoulos, S. E., and Lowik, C. W. (1999). A frame-shift mutation in the type I parathyroid hormone (PTH)/PTH- related peptide receptor causing Blomstrand lethal osteochondrodysplasia. J Clin. Endocrinol. Metab 84, 3713-3720.

124. Duchatelet, S., Ostergaard, E., Cores, D., Lemainque, A., and Julier, C., (2005). Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes. Hum. Mol. Genet. 14, 1-5.

125. Hopyan, S., Gokgoz, N., Poon, R., Gensure, R. C., Yu, C., Cole, W. G., Bell, R.S., Juppner, H., Andrulis, I.L., Wunder, J.S., and Alman, B. A. (2002). A mutant PTH/PTHrP type I receptor in enchondromatosis. Nat. Genet. 30, 306-10.

126. Rozeman, L. B., Sangiorgi, L., Briaire-de Bruijn, I. H., Mainil-Varlet, P., and Bertoni, F., Cleton-Jansen, A. M., Hogendoorn, P. C., and Bovee, J. V. (2004). Enchondromatosis (Ollier disease, Maffucci syndrome) is not caused by the PTHR1 mutation p.R150C. Hum. Mutat. 24, 466-473.

127. Konrad, M., Schlingmann, K. P., and Gudermann, T. (2004). Insights into the molecular nature of magnesium homeostasis. Am. J. Physiol. Renal Physiol. 286, F599-F605.

128. Unger, S., Paul, D. A., Nino, M. C., McKay, C. P., Miller, S., Sochett, E., Braverman, N., Clarke, J. T., Cole, D. E., and Superti-Furga, A. (2005) Mucolipidosis II presenting as severe neonatal hyperparathyroidism. Eur. J. Pediatr. 164, 236-243.

129. O'Riordan, J. L.H. (1994). Treatment of hypoparathyroidism. In "The Parathyroids", (Bilezikian, J. P., Marcus, R., and Levine, M. A.eds.), pp.801-804. Raven Press, New York.

130. Mittendorf, E. A., Merlino, J. I., and McHenry, C. R. (2004) Post-parathyroidectomy hypocalcemia: incidence, risk factors, and management. Am. Surg. 70, 114-119.

131. Arlt, W., Fremerey, C., Callies, F., Reincke, M., Schneider, P., Timmermann, W., and Allolio, B. (2002) Well-being, mood and calcium homeostasis in patients with hypoparathyroidism receiving standard treatment with calcium and vitamin D. Eur. J. Endocrinol. 146, 215-222.

132. Okano, K., Furukawa, Y., Morii, H., and Fujita, T. (1982). Comparative efficacy of various vitamin D metabolites in the treatment of various types of hypoparathyroidism. J Clin. Endocrinol. Metab. 55, 238-243.

133. Winer, K. K., Ko, C. W., Reynolds, J. C., Dowdy, K., Keil, M., Peterson, D., Gerber, L. H., McGarvey. C, and Cutler, G. B. Jr. (2003). Long-term treatment of hypoparathyroidism: a randomized controlled study comparing parathyroid hormone-(1-34) versus calcitriol and calcium. J. Clin. Endocrinol. Metab. 88, 4214-4220.

134. Nemeth, E. F., Delmar, E. G., Heaton, W. L., Miller, M. A., Lambert, L. D., Conklin, R. L., Gowen, M., Gleason, J. G., Bhatnagar, P. K., and Fox, J. (2001). Calcilytic compounds: potent and selective Ca2+ receptor antagonists that stimulate secretion of parathyroid hormone. J. Pharmacol. Exp. Ther. 299, 323-331.

135. Sato, K., Hasegawa, Y., Nakae, J., Nanao, K., Takahashi, I., Tajima, T., Shinohara, N., and Fujieda, K. (2002) Hydrochlorothiazide effectively reduces urinary calcium excretion in two Japanese patients with gain-of-function mutations of the calcium-sensing receptor gene. J. Clin. Endocrinol. Metab. 87, 3068-3073.