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Volumn 2, Issue NOV, 2011, Pages

Paternal uniparental isodisomy of chromosome 11 p 15.5 within the pancreas causes isolated hyperinsulinemic hypoglycemia

Author keywords

Beckwith Wiedemann syndrome; Hyperinsulinemic hypoglycemia; Uniparental disomy

Indexed keywords


EID: 84874362818     PISSN: None     EISSN: 16642392     Source Type: Journal    
DOI: 10.3389/fendo.2011.00066     Document Type: Article
Times cited : (11)

References (14)
  • 4
    • 0034090918 scopus 로고    scopus 로고
    • Hypoglycemia in Beckwith-Wiedemann syndrome
    • Debaun, M. R., King, A. A., and White, N. (2000). Hypoglycemia in Beckwith-Wiedemann syndrome. Semin. Perinatol. 24, 164-171.
    • (2000) Semin. Perinatol. , vol.24 , pp. 164-171
    • Debaun, M.R.1    King, A.A.2    White, N.3
  • 6
    • 0025986902 scopus 로고
    • Chromosome 11 uniparental isodisomy predisposing to embryonal neoplasms
    • Grundy, P., Telzerow, P., Paterson, M. C., Haber, D., Berman, B., Li, F., and Garber, J. (1991). Chromosome 11 uniparental isodisomy predispos- ing to embryonal neoplasms. Lancet 338, 1079-1080.
    • (1991) Lancet , vol.338 , pp. 1079-1080
    • Grundy, P.1    Telzerow, P.2    Paterson, M.C.3    Haber, D.4    Berman, B.5    Li, F.6    Garber, J.7
  • 11
    • 37249076439 scopus 로고    scopus 로고
    • Severe presentation of Beckwith-Wiedemann syndrome associated with high levels of constitutional paternal uniparental disomy for chromosome 11 p 15
    • Smith, A. C., Shuman, C., Chitayat, D., Steele, L., Ray, P. N., Bourgeois, J., and Weksberg, R. (2007). Severe pre- sentation of Beckwith-Wiedemann syndrome associated with high lev- els of constitutional paternal uni- parental disomy for chromosome 11 p 15. Am.J.Med.Genet.A 143A, 3010-3015.
    • (2007) Am. J. Med. Genet. A 143A , pp. 3010-3015
    • Smith, A.C.1    Shuman, C.2    Chitayat, D.3    Steele, L.4    Ray, P.N.5    Bourgeois, J.6    Weksberg, R.7
  • 12
    • 0029836983 scopus 로고    scopus 로고
    • Mutation of the pancreatic islet inward rectifier Kir6 2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy
    • Thomas, P., Ye, Y., and Lightner, E. (1996). Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsuline- mic hypoglycemia of infancy. Hum. Mol. Genet. 5, 1809-1812.
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 1809-1812
    • Thomas, P.1    Ye, Y.2    Lightner, E.3
  • 13
    • 0029021696 scopus 로고
    • Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy
    • Thomas, P. M., Cote, G. J., Wohllk, N., Haddad, B., Mathew, P. M., Rabl, W., Aguilar-Bryan, L., Gagel, R. F., and Bryan, J. (1995). Muta- tions in the sulfonylurea receptor gene in familial persistent hyperin- sulinemic hypoglycemia of infancy. Science 268, 426-429.
    • (1995) Science , vol.268 , pp. 426-429
    • Thomas, P.M.1    Cote, G.J.2    Wohllk, N.3    Haddad, B.4    Mathew, P.M.5    Rabl, W.6    Aguilar-Bryan, L.7    Gagel, R.F.8    Bryan, J.9


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.