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Volumn 72, Issue 1, 1997, Pages 63-65

Deletion of chromosome 22q11 and pseudohypoparathyroidism

Author keywords

DiGeorge anomaly; Hypocalcemia; Pseudohypoparathyroidism

Indexed keywords

GUANINE NUCLEOTIDE BINDING PROTEIN; PARATHYROID HORMONE;

EID: 0030883074     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19971003)72:1<63::AID-AJMG13>3.0.CO;2-S     Document Type: Article
Times cited : (6)

References (12)
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    • (1994) "In Situ Hybridization Protocols", Series: "Methods in Molecular Biology." , vol.33 , pp. 75-85
    • Baldini, A.1    Lindsay, E.A.2
  • 3
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    • Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: Implications for genetic counselling and prenatal diagnosis
    • Driscoll DA, Salvin J, Sellinger B, Budarf ML, McDonald-McGinn DM, Zackai EH, Emanuel BS (1993): Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: Implications for genetic counselling and prenatal diagnosis. J Med Genet 30:813-817.
    • (1993) J Med Genet , vol.30 , pp. 813-817
    • Driscoll, D.A.1    Salvin, J.2    Sellinger, B.3    Budarf, M.L.4    McDonald-McGinn, D.M.5    Zackai, E.H.6    Emanuel, B.S.7
  • 5
    • 0023815540 scopus 로고
    • Cytogenetic findings in a prospective series of patients with DiGeorge anomaly
    • Greenberg F, Elder F, Haffner P, Northrup H, Ledbetter D (1988): Cytogenetic findings in a prospective series of patients with DiGeorge anomaly. Am J Med Genet 43:605-611.
    • (1988) Am J Med Genet , vol.43 , pp. 605-611
    • Greenberg, F.1    Elder, F.2    Haffner, P.3    Northrup, H.4    Ledbetter, D.5
  • 6
    • 0029913444 scopus 로고
    • Transient congenital hypoparathyroidism: Resolution and recurrence in chromosome 22q11 deletion
    • Greig F, Paul E, DiMartino-Nardi J, Saenger P (1994): Transient congenital hypoparathyroidism: Resolution and recurrence in chromosome 22q11 deletion. J Pediatr 128:563-567.
    • (1994) J Pediatr , vol.128 , pp. 563-567
    • Greig, F.1    Paul, E.2    Dimartino-Nardi, J.3    Saenger, P.4
  • 7
    • 0027328673 scopus 로고
    • Molecular cytogenetic characterization of the DiGeorge syndrome region using fluorescence in situ hybridization
    • Lindsay E, Halford S, Wadey K, Scambler P, Baldini A (1993): Molecular cytogenetic characterization of the DiGeorge syndrome region using fluorescence in situ hybridization. Genomics 17:403-407.
    • (1993) Genomics , vol.17 , pp. 403-407
    • Lindsay, E.1    Halford, S.2    Wadey, K.3    Scambler, P.4    Baldini, A.5
  • 8
    • 0028943334 scopus 로고
    • Submicroscopic deletions of 22q11.2: Variability of the clinical picture and delineation of a commonly deleted region
    • Lindsay E, Greenberg F, Shaffer S, Shapira S, Scambler P, Baldini A (1995): Submicroscopic deletions of 22q11.2: Variability of the clinical picture and delineation of a commonly deleted region. Am J Med Genet 56:191-197.
    • (1995) Am J Med Genet , vol.56 , pp. 191-197
    • Lindsay, E.1    Greenberg, F.2    Shaffer, S.3    Shapira, S.4    Scambler, P.5    Baldini, A.6
  • 10
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    • Mutations of signal-transducing G proteins in human disease
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    • Schnabel, P.1    Böhm, M.2
  • 12
    • 0003062185 scopus 로고
    • Pseudohypoparathyroidism
    • Scriver CR, Beaudet AL, Sly WS, Valle D (eds): 7th Edition. New York: McGraw-Hill
    • Spiegel AM, Weinstein LE (1995): Pseudohypoparathyroidism, In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds): "The Metabolic and Molecular Bases of Inherited Disease," Vol. II, 7th Edition. New York: McGraw-Hill, pp 3073-3089.
    • (1995) The Metabolic and Molecular Bases of Inherited Disease , vol.2 , pp. 3073-3089
    • Spiegel, A.M.1    Weinstein, L.E.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.