메뉴 건너뛰기




Volumn 14, Issue 2, 2005, Pages 39-44

Two cases of pseudohypoparathyroidism type Ia in duozygotic twins with different phenotypes

Author keywords

Albright's hereditary osteodystrophy; Duozygotic twins; Phenotype; Pseudohypoparathyroidism type Ia

Indexed keywords

CALCIUM; PARATHYROID HORMONE; PHOSPHATE; THYROTROPIN;

EID: 23944482610     PISSN: 09185739     EISSN: None     Source Type: Journal    
DOI: 10.1297/cpe.14.39     Document Type: Article
Times cited : (4)

References (15)
  • 1
    • 0034332583 scopus 로고    scopus 로고
    • Clinical spectrum and pathogenesis of pseudohypoparathyroidism
    • Levine MA. Clinical spectrum and pathogenesis of pseudohypoparathyroidism. Rev Endocr Metab Disord 2000;1:265-74.
    • (2000) Rev Endocr Metab Disord , vol.1 , pp. 265-274
    • Levine, M.A.1
  • 2
    • 0034793851 scopus 로고    scopus 로고
    • Endocrine manifestations of stimulatory G protein alpha-subunit mutations and the role of genomic imprinting
    • Weinstein LS, Yu S, Warner DR, Liu J. Endocrine manifestations of stimulatory G protein alpha-subunit mutations and the role of genomic imprinting. Endocr Rev 2001;22:675-705.
    • (2001) Endocr Rev , vol.22 , pp. 675-705
    • Weinstein, L.S.1    Yu, S.2    Warner, D.R.3    Liu, J.4
  • 3
    • 0000821313 scopus 로고
    • Pseudohypoparathyroidism - An example of "Seabright-Bantam syndrome"
    • Albright F, Burnett CH, Smith PH, Parson W. Pseudohypoparathyroidism - an example of "Seabright-Bantam syndrome". Endocrinology 1942;30:922-32.
    • (1942) Endocrinology , vol.30 , pp. 922-932
    • Albright, F.1    Burnett, C.H.2    Smith, P.H.3    Parson, W.4
  • 4
    • 0026079186 scopus 로고
    • Pseudohypoparathyroidism: Its phenotypic variability and associated disorders in a large family
    • Faull CM, WeFaull CM, Welbury RR, Paul B, Kendall-Taylor P. Pseudohypoparathyroidism: its phenotypic variability and associated disorders in a large family. Q J Med 1991;78:251-64.
    • (1991) Q J Med , vol.78 , pp. 251-264
    • Faull, C.M.1    WeFaull, C.M.2    Welbury, R.R.3    Paul, B.4    Kendall-Taylor, P.5
  • 5
    • 12444347454 scopus 로고    scopus 로고
    • The relationships between pubertal development, IGF-1 axis, and bone formation in healthy adolescents
    • Kanbur NO, Derman O, Kinik E. The relationships between pubertal development, IGF-1 axis, and bone formation in healthy adolescents. J Bone Miner Metab 2005;23:76-83.
    • (2005) J Bone Miner Metab , vol.23 , pp. 76-83
    • Kanbur, N.O.1    Derman, O.2    Kinik, E.3
  • 6
    • 0031720576 scopus 로고    scopus 로고
    • Urinary markers of bone turnover in healthy children and adolescents: Age-related changes and effect of puberty
    • Mora S, Prinster C, Proverbio MC, Bellini A, de Poli SC, Chiumello G, et al. Urinary markers of bone turnover in healthy children and adolescents: age-related changes and effect of puberty. Calcif Tissue Int 1998;63:369-74.
    • (1998) Calcif Tissue Int , vol.63 , pp. 369-374
    • Mora, S.1    Prinster, C.2    Proverbio, M.C.3    Bellini, A.4    De Poli, S.C.5    Chiumello, G.6
  • 8
    • 0034527616 scopus 로고    scopus 로고
    • Mutation analysis of GNAS1 in patients with pseudohypoparathyroidism: Identification of two novel mutations
    • Mantovani G, Romoli R, Weber G, Brunelli V, Beck-Peccoz P, Spada A, et al. Mutation analysis of GNAS1 in patients with pseudohypoparathyroidism: identification of two novel mutations. J Clin Endocrinol Metab 2000;85:4243-8.
    • (2000) J Clin Endocrinol Metab , vol.85 , pp. 4243-4248
    • Mantovani, G.1    Romoli, R.2    Weber, G.3    Brunelli, V.4    Beck-Peccoz, P.5    Spada, A.6
  • 10
    • 0027210606 scopus 로고
    • Heterogeneous mutations in the gene encoding the alpha-subunit of the stimulatory G protein of adenylyl cyclase in Albright hereditary osteodystrophy
    • Miric A, Vechio JD, Levine MA. Heterogeneous mutations in the gene encoding the alpha-subunit of the stimulatory G protein of adenylyl cyclase in Albright hereditary osteodystrophy. J Clin Endocrinol Metab 1993;76:1560-8.
    • (1993) J Clin Endocrinol Metab , vol.76 , pp. 1560-1568
    • Miric, A.1    Vechio, J.D.2    Levine, M.A.3
  • 11
    • 0033815587 scopus 로고    scopus 로고
    • Pseudohypoparathyroidism. New insights into an old disease
    • Bastepe M, Juppner H. Pseudohypoparathyroidism. New insights into an old disease. Endocrinol Metab Clin North Am 2000;29:569-89.
    • (2000) Endocrinol Metab Clin North Am , vol.29 , pp. 569-589
    • Bastepe, M.1    Juppner, H.2
  • 13
    • 9344241375 scopus 로고    scopus 로고
    • PTH/PTHrP receptor in early development and Indian hedgehog-regulated bone growth
    • Lanske B, Karaplis AC, Lee K, Luz A, Vortkamp A, Kronenberg HM et al. PTH/PTHrP receptor in early development and Indian hedgehog-regulated bone growth. Science 1996;273:663-6.
    • (1996) Science , vol.273 , pp. 663-666
    • Lanske, B.1    Karaplis, A.C.2    Lee, K.3    Luz, A.4    Vortkamp, A.5    Kronenberg, H.M.6
  • 14
    • 0020627955 scopus 로고
    • Resistance to multiple hormones in patients with pseudohypoparathyroidism. Association with deficient activity of guanine nucleotide regulatory protein
    • Levine MA, Downs RW, Jr., Moses AM, Breslau NA, Marx SJ, Spiegel AM, et al. Resistance to multiple hormones in patients with pseudohypoparathyroidism. Association with deficient activity of guanine nucleotide regulatory protein. Am J Med 1983;74:545-56.
    • (1983) Am J Med , vol.74 , pp. 545-556
    • Levine, M.A.1    Downs Jr., R.W.2    Moses, A.M.3    Breslau, N.A.4    Marx, S.J.5    Spiegel, A.M.6
  • 15
    • 0036771614 scopus 로고    scopus 로고
    • The gsalpha gene: Predominant maternal origin of transcription in human thyroid gland and gonads
    • Mantovani G, Ballare E, Giammona E, Beck-Peccoz P, Spada A. The gsalpha gene: predominant maternal origin of transcription in human thyroid gland and gonads. J Clin Endocrinol Metab 2002;87:4736-40.
    • (2002) J Clin Endocrinol Metab , vol.87 , pp. 4736-4740
    • Mantovani, G.1    Ballare, E.2    Giammona, E.3    Beck-Peccoz, P.4    Spada, A.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.