Beckwith-Wiedemann syndrome

Current Paediatrics

Volumn 8, Issue 2, 1998, Pages 117-120

  Lam, W W K ^a   Maher, E R ^a  

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 0842300548     PISSN: 09575839     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0957-5839(98)80131-0     Document Type: Conference Paper

References (10)

1. CIP1 Cdk inhibitor family is a candidate tumour suppressor gene. Genes and Develop 1995; 9: 650-662.
2. Lee M P, Hu R J, Johnson L A, Feinberg A P. Human KVLQT1 gene shows tissue specific imprinting and encompasses Beckwith-Wiedemann syndrome chromosomal rearrangements. Nature Genet 1997; 15: 181-185.
3. Elliott M, Bayly R, Cole T R P, Temple K, Maher E R. Clinical features and natural history of Beckwith-Wiedemann syndrome: presentation of 74 new cases. Clin Genet 1994; 46: 168-174.
4. Weng E Y, Moeschler J B, Graham J M. Longitudinal observations on 15 children with Wiedemann-Beckwith syndrome. Am J Med Genet 1995; 56: 366-373.
5. Slatter R E, Elliott M, Welham K, Carrera M, et al. Mosaic uniparental disomy in Beckwith-Wiedemann syndrome. J Med Genet 1994; 31: 749-753.
6. Reik W, Brown K, Schneid H, Le Bouc Y, Bickmore W, Maher E R. Imprinting mutations in the Beckwith-Wiedemann syndrome suggested by an altered imprinting pattern in the IGF2-H19 domain. Hum Molec Genet 1995; 4: 2379-2385.
7. Catchpoole D, Lam W W K, Valler D, Temple I K, et al. Epigenetics modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome. J Med Genet 1997; 34: 353-359.
8. Joyce J A, Lam W W K, Catchpoole D J, Jenks P, et al. Imprinting of IGF2 and H19: Lack of reciprocity in sporadic Beckwith-Wiedemann syndrome. Hum Molec Genet 1997 in Press.
9. Brown K W, Villar A J, Bickmore W, Clayton-Smith J, et al. Imprinting mutation in the Beckwith-Wiedemann syndrome leads to biallelic IGF2 expression through an H19 independent pathway. Hum Mol Genet 1996; 6: 2027-2032.
10. Lam W W K, Hatada I, Ohishi S, Mukai T, et al. Analysis of Germline CDKNIC mutations in the human imprinting disorder: Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation Am J Hum Genet 1997; 61: A3.