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Beckwith-Wiedemann syndrome.

作者信息

Elliott M, Maher E R

机构信息

Department of Clinical Genetics, Addenbrooke's Hospital, Cambridge, UK.

出版信息

J Med Genet. 1994 Jul;31(7):560-4. doi: 10.1136/jmg.31.7.560.

DOI:10.1136/jmg.31.7.560

PMID:7966193

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1049980/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e940/1049980/af368ff858d4/jmedgene00286-0059-a.jpg

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[FAMILIAL MALFORMATION COMPLEX WITH UMBILICAL HERNIA AND MACROGLOSSIA--A "NEW SYNDROME"?].

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Molecular characterization of cytogenetic alterations associated with the Beckwith-Wiedemann syndrome (BWS) phenotype refines the localization and suggests the gene for BWS is imprinted.

Hum Mol Genet. 1993 May;2(5):549-56. doi: 10.1093/hmg/2.5.549.

IGF2 is parentally imprinted during human embryogenesis and in the Beckwith-Wiedemann syndrome.

Nat Genet. 1993 May;4(1):94-7. doi: 10.1038/ng0593-94.

Monozygotic twinning and Wiedemann-Beckwith syndrome.

Am J Med Genet. 1993 May 15;46(3):353-4. doi: 10.1002/ajmg.1320460327.

Parental-origin-specific epigenetic modification of the mouse H19 gene.

Nature. 1993 Apr 22;362(6422):751-5. doi: 10.1038/362751a0.

Relaxation of imprinted genes in human cancer.

Nature. 1993 Apr 22;362(6422):747-9. doi: 10.1038/362747a0.

Wilms' tumor in a patient with Beckwith-Wiedemann syndrome: onset detected with 3-month serial sonography.

AJR Am J Roentgenol. 1993 Jan;160(1):139-40. doi: 10.2214/ajr.160.1.8380110.

Constitutional relaxation of insulin-like growth factor II gene imprinting associated with Wilms' tumour and gigantism.

Nat Genet. 1993 Dec;5(4):408-12. doi: 10.1038/ng1293-408.

Disruption of insulin-like growth factor 2 imprinting in Beckwith-Wiedemann syndrome.

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Relaxation of insulin-like growth factor II gene imprinting implicated in Wilms' tumour.

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Beckwith-Wiedemann syndrome.

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