메뉴 건너뛰기




Volumn 89, Issue 4, 2004, Pages 1650-1655

Brachydactyly in 14 genetically characterized pseudohypoparathyroidism type Ia patients

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; BRACHYDACTYLY; BRACHYTETEPHALANGY; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CLUSTER ANALYSIS; EVALUATION; FEMALE; GENE MUTATION; GENETICS; GENOTYPE; HAND MALFORMATION; HUMAN; MALE; METACARPAL BONE; METACARPOPHALANGEAL JOINT; PHENOTYPE; PRIORITY JOURNAL; PSEUDOHYPOPARATHYROIDISM; PSEUDOPSEUDOHYPOPARATHYROIDISM; SCORING SYSTEM; STATISTICAL SIGNIFICANCE;

EID: 1942473082     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2003-030850     Document Type: Article
Times cited : (51)

References (27)
  • 1
    • 0032930395 scopus 로고    scopus 로고
    • Les anomalies radiologiques de la pseudohypoparathyroidie: Importance diagnostique
    • Merzoug V, Hamidou A, Garabedian M, Adamsbaum C, Kalifa G 1999 Les anomalies radiologiques de la pseudohypoparathyroidie: importance diagnostique. J Radiol 80:285-290
    • (1999) J Radiol , vol.80 , pp. 285-290
    • Merzoug, V.1    Hamidou, A.2    Garabedian, M.3    Adamsbaum, C.4    Kalifa, G.5
  • 2
    • 0000821313 scopus 로고
    • Pseudohypoparathyroidism: An example of "Seabright-Bantam syndrome."
    • Albright F, Burnett CH, Smith PH 1942 Pseudohypoparathyroidism: an example of "Seabright-Bantam syndrome." Endocrinology 30:922-932
    • (1942) Endocrinology , vol.30 , pp. 922-932
    • Albright, F.1    Burnett, C.H.2    Smith, P.H.3
  • 5
    • 0033815587 scopus 로고    scopus 로고
    • Pseudohypoparathyroidism. New insight into an old disease
    • Bastepe M, Juppner H 2000 Pseudohypoparathyroidism. New insight into an old disease. Endocrinol Metab Clin North Am 29:569-589
    • (2000) Endocrinol Metab Clin North Am , vol.29 , pp. 569-589
    • Bastepe, M.1    Juppner, H.2
  • 6
    • 0242666154 scopus 로고
    • Resistance to multiple hormones in patients with pseudohypoparathyroidism. Association with deficient activity of guanine nucleotide regulatory protein
    • Levine MA, Downs Jr RW, Moses AM 1977 Resistance to multiple hormones in patients with pseudohypoparathyroidism. Association with deficient activity of guanine nucleotide regulatory protein. Am J Med 296:140-144
    • (1977) Am J Med , vol.296 , pp. 140-144
    • Levine, M.A.1    Downs Jr., R.W.2    Moses, A.M.3
  • 7
    • 0019309715 scopus 로고
    • Deficient activity of guanine nucleotide regulatory protein in erythrocytes from patients with pseudohypoparathyroidism
    • Levine MA, Downs Jr RW, Singer M, Marx SJ, Aurbach GD, Spiegel AM 1980 Deficient activity of guanine nucleotide regulatory protein in erythrocytes from patients with pseudohypoparathyroidism. Biochem Biophys Res Commun 94:1319-1324
    • (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
  • 8
    • 0000032174 scopus 로고    scopus 로고
    • Albright hereditary osteodystrophy, pseudohypoparathyroidism, and Gs deficiency
    • Spiegel AM, ed. Totawa, NJ: Humana Press
    • Weinstein LS 1998 Albright hereditary osteodystrophy, pseudohypoparathyroidism, and Gs deficiency. In: Spiegel AM, ed. Contemporary endocrinology: G proteins, receptors, and disease. Totawa, NJ: Humana Press; 23-56
    • (1998) Contemporary Endocrinology: G Proteins, Receptors, and Disease , pp. 23-56
    • Weinstein, L.S.1
  • 9
    • 0022655674 scopus 로고
    • Activity of the stimulatory guanine nucleotide-binding regulatory protein in erythrocytes from patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism: Biochemical evidence, endocrine, and genetic analysis of Albright's hereditary osteodystrophy in six kindreds
    • Levine MA, Jap TS, Mauseth RS, Downs Jr RW, Spiegel AM 1986 Activity of the stimulatory guanine nucleotide-binding regulatory protein in erythrocytes from patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism: biochemical evidence, endocrine, and genetic analysis of Albright's hereditary osteodystrophy in six kindreds. J Clin Endocrinol Metab 62:497-502
    • (1986) J Clin Endocrinol Metab , vol.62 , pp. 497-502
    • Levine, M.A.1    Jap, T.S.2    Mauseth, R.S.3    Downs Jr., R.W.4    Spiegel, A.M.5
  • 13
    • 0033855731 scopus 로고    scopus 로고
    • Activating and inactivating mutations in the human GNAS1 gene
    • Aldred MA, Trembath RC 2000 Activating and inactivating mutations in the human GNAS1 gene. Hum Mutat 16:183-189
    • (2000) Hum Mutat , vol.16 , pp. 183-189
    • Aldred, M.A.1    Trembath, R.C.2
  • 15
    • 0017670843 scopus 로고    scopus 로고
    • Pseudohypoparathyroidism: Variable manifestations within a family
    • Williams AJ, Wilkinson JL, Taylor WH 1997 Pseudohypoparathyroidism: variable manifestations within a family. Arch Dis Child 52:798-799
    • (1997) Arch Dis Child , vol.52 , pp. 798-799
    • Williams, A.J.1    Wilkinson, J.L.2    Taylor, W.H.3
  • 16
    • 0027399429 scopus 로고
    • Imprinting in Albright's hereditary osteodystrophy
    • Davies SJ, Hughes HE 1993 Imprinting in Albright's hereditary osteodystrophy. J Med Genet 30:101-103
    • (1993) J Med Genet , vol.30 , pp. 101-103
    • Davies, S.J.1    Hughes, H.E.2
  • 17
    • 0028068226 scopus 로고
    • Parental origin of transcription from the human GNAS1 gene
    • Campbell R, Gosden CM, Bonthron DT 1994 Parental origin of transcription from the human GNAS1 gene. J Med Genet 31:607-614
    • (1994) J Med Genet , vol.31 , pp. 607-614
    • Campbell, R.1    Gosden, C.M.2    Bonthron, D.T.3
  • 19
    • 0242414475 scopus 로고
    • Heterogeneous mutations in the gene encoding the a subunit of the stimulatory G protein of adenylyl cyclase in Albright hereditary osteodystrophy
    • Miric A, Vechio JD, Levine MA 1993 Heterogeneous mutations in the gene encoding the a subunit of the stimulatory G protein of adenylyl cyclase in Albright hereditary osteodystrophy. J Clin Endocrinol Metab 75:171-184
    • (1993) J Clin Endocrinol Metab , vol.75 , pp. 171-184
    • Miric, A.1    Vechio, J.D.2    Levine, M.A.3
  • 20
    • 0015365048 scopus 로고
    • Metacarpophalangeal pattern profiles in the evaluation of skeletal malformations
    • Poznanski AK, Garn SM, Nagy JM, Gall JC 1972 Metacarpophalangeal pattern profiles in the evaluation of skeletal malformations. Radiology 104:1-11
    • (1972) Radiology , vol.104 , pp. 1-11
    • Poznanski, A.K.1    Garn, S.M.2    Nagy, J.M.3    Gall, J.C.4
  • 21
    • 0017687244 scopus 로고
    • 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 1977 The pattern of shortening of the bones of the hand in PHP and PPHP: a comparison with brachydactyly E, Turner syndrome, and acrodysostosis. Pediatr Radiol 123:707-718
    • (1977) Pediatr Radiol , vol.123 , pp. 707-718
    • Poznanski, A.K.1    Werder, E.A.2    Giedion, A.3
  • 22
    • 0030908749 scopus 로고    scopus 로고
    • A bibliography covering the use of metacarpophalangeal pattern profile analysis in bone dysplasias, congenital malformation syndromes, and other disorders
    • Poznanski AK, Gartman S 1997 A bibliography covering the use of metacarpophalangeal pattern profile analysis in bone dysplasias, congenital malformation syndromes, and other disorders. Pediatr Radiol 27:358-365
    • (1997) Pediatr Radiol , vol.27 , pp. 358-365
    • Poznanski, A.K.1    Gartman, S.2
  • 25
    • 0004241258 scopus 로고
    • Boca Raton, FL: Chapman and Hall
    • Gordon AD 1980 Classification. Boca Raton, FL: Chapman and Hall
    • (1980) Classification
    • Gordon, A.D.1
  • 26
    • 0026959461 scopus 로고
    • Cluster analysis and related techniques in medical research
    • McLachlan GJ 1992 Cluster analysis and related techniques in medical research. Stat Methods Med Res 1:27-48
    • (1992) Stat Methods Med Res , vol.1 , pp. 27-48
    • McLachlan, G.J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.