Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome

Journal of Medical Genetics

Volumn 37, Issue 12, 2000, Pages 921-926

  Engel, J R ^a   Smallwood, A ^a   Harper, A ^a   Higgins, M J ^b   Oshimura, M ^c   Reik, W ^d   Schofield, P N ^e   Maher, E R ^a  

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^b ROSWELL PARK CANCER INSTITUTE   (United States)

^c TOTTORI UNIVERSITY   (Japan)

^d BABRAHAM INSTITUTE   (United Kingdom)

^e UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

Beckwith Wiedemann syndrome; Epigenotype phenotype correlations; Imprinting

Indexed keywords

ARTICLE; BECKWITH WIEDEMANN SYNDROME; CHROMOSOME 11P; CLINICAL ARTICLE; CONTROLLED STUDY; CORRELATION FUNCTION; DNA METHYLATION; GENE CONTROL; GENE EXPRESSION; GENE MUTATION; GENE SILENCING; GENETIC ANALYSIS; GENOME IMPRINTING; HUMAN; PHENOTYPE; PRIORITY JOURNAL; UMBILICAL HERNIA; UNIPARENTAL DISOMY;

EID: 0034530186     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.37.12.921     Document Type: Article

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8. Is p57KIP2 mutation a common mechanism for Beckwith-Wiedemann syndrome or somatic overgrowth?
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16. Imprinting mutation in the Beckwith-Wiedemann syndrome leads to biallelic IGF2 expression through an H19 independent pathway
17. A maternally methylated CpG island in KCNQ1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome
18. Loss of imprinting of a paternally expressed transcript, with antisense orientation to KCNQ1, occurs frequently in Beckwith-Wiedemann syndrome and is independent of insulin-like growth factor II imprinting
19. LIT1, an imprinted antisense RNA in the human KvLQT1 locus identified by screening for differentially expressed transcripts using monochromosomal hybrids
20. Multiple mechanisms regulate imprinting of the mouse distal chromosome 7 gene cluster
21. Disruption of primary imprinting during oocyte growth leads to the modified expression of imprinted genes during embryogenesis
22. A human p57(KIP2) transgene is not activated by passage through the maternal mouse germline
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25. Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15
26. Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene
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