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Volumn 129, Issue 2, 2004, Pages 198-200

Giant omphalocele and "prune belly" sequence as components of the Beckwith-Wiedemann syndrome

Author keywords

Beckwith Wiedemann syndrome; Epigenetic; Giant omphalocele; Human malformation; Megacystis; Prune belly

Indexed keywords

ARTICLE; BECKWITH WIEDEMANN SYNDROME; CHROMOSOME 11P; CLINICAL EXAMINATION; FETUS; GENE; HUMAN; KCNQ1OT1 GENE; MALE; OMPHALOCELE; PRIORITY JOURNAL; PRUNE BELLY SYNDROME; SYNDROME DELINEATION;

EID: 4344620691     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30129     Document Type: Article
Times cited : (11)

References (11)
  • 1
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    • Macroglossia, omphalocele, adrenal cytomegaly, gigantism, and hyperplastic visceromegaly
    • Beckwith J. 1969. Macroglossia, omphalocele, adrenal cytomegaly, gigantism, and hyperplastic visceromegaly. Birth Defects Orig Artic Ser 5:188-196.
    • (1969) Birth Defects Orig Artic Ser , vol.5 , pp. 188-196
    • Beckwith, J.1
  • 3
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    • Prenatal detection of a congenital pancreatic cyst and Beckwith-Wiedemann syndrome
    • Fremond B, Poulain P, Odent S, Milon J, Treguier C, Babut JM. 1997. Prenatal detection of a congenital pancreatic cyst and Beckwith-Wiedemann syndrome. Prenat Diagn 17:276-280.
    • (1997) Prenat Diagn , vol.17 , pp. 276-280
    • Fremond, B.1    Poulain, P.2    Odent, S.3    Milon, J.4    Treguier, C.5    Babut, J.M.6
  • 4
    • 0034967806 scopus 로고    scopus 로고
    • Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and the prognosis of Wiedemann-Beckwith syndrome
    • Gaston V, Le Bouc Y, Soupre V, Burglen L, Donadieu J, Oro H, Audry G, Vazquez MP, Gicquel C. 2001. Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and the prognosis of Wiedemann-Beckwith syndrome. Eur J Hum Genet 9:409-418.
    • (2001) Eur J Hum Genet , vol.9 , pp. 409-418
    • Gaston, V.1    Le Bouc, Y.2    Soupre, V.3    Burglen, L.4    Donadieu, J.5    Oro, H.6    Audry, G.7    Vazquez, M.P.8    Gicquel, C.9
  • 5
    • 0028046891 scopus 로고
    • The cell type-specific IGF2 expression during early human development correlates to the pattern of overgrowth and neoplasia in the Beckwith-Wiedemann syndrome
    • Hedborg F, Holmgren L, Sandstedt B, Ohlsson R. 1994. The cell type-specific IGF2 expression during early human development correlates to the pattern of overgrowth and neoplasia in the Beckwith-Wiedemann syndrome. Am J Pathol 145:802-817.
    • (1994) Am J Pathol , vol.145 , pp. 802-817
    • Hedborg, F.1    Holmgren, L.2    Sandstedt, B.3    Ohlsson, R.4
  • 7
    • 0032475940 scopus 로고    scopus 로고
    • Molecular genetics of Wiedemann-Beckwith syndrome
    • Li M, Squire JA, Weksberg R. 1998. Molecular genetics of Wiedemann-Beckwith syndrome. Am J Med Genet 79:253-259.
    • (1998) Am J Med Genet , vol.79 , pp. 253-259
    • Li, M.1    Squire, J.A.2    Weksberg, R.3
  • 9
    • 0036792303 scopus 로고    scopus 로고
    • A possible relationship between Beckwith-Wiedemann syndrome and prune-belly syndrome
    • Silengo M, Barberis L, Ferrero GB, Sorasio L, Valenzise M. 2002. A possible relationship between Beckwith-Wiedemann syndrome and prune-belly syndrome. Clin Dysmorphol 11:293-294.
    • (2002) Clin Dysmorphol , vol.11 , pp. 293-294
    • Silengo, M.1    Barberis, L.2    Ferrero, G.B.3    Sorasio, L.4    Valenzise, M.5
  • 10
    • 0025260087 scopus 로고
    • A possible relationship between Beckwith-Wiedemann syndrome, urinary tract anomaly, and prune belly syndrome
    • Watanabe H, Yamanaka T. 1990. A possible relationship between Beckwith-Wiedemann syndrome, urinary tract anomaly, and prune belly syndrome. Clin Genet 38:410-414.
    • (1990) Clin Genet , vol.38 , pp. 410-414
    • Watanabe, H.1    Yamanaka, T.2
  • 11
    • 76549164702 scopus 로고
    • Complexe malformatif familial avec hernie ombilicale et macroglossie: Un syndrome nouveau?
    • Wiedemann HR. 1964. Complexe malformatif familial avec hernie ombilicale et macroglossie: Un syndrome nouveau? J Genet Hum 13:223-232.
    • (1964) J Genet Hum , vol.13 , pp. 223-232
    • Wiedemann, H.R.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.