Low Frequency of p57KIP2 Mutation in Beckwith-Wiedemann Syndrome
Open Access
- 1 August 1997
- journal article
- Published by Elsevier in American Journal of Human Genetics
- Vol. 61 (2), 304-309
- https://doi.org/10.1086/514858
Abstract
No abstract availableKeywords
This publication has 26 references indexed in Scilit:
- Imprinting mutation in the Beckwith-Wiedemann syndrome leads to biallelic IGF2 expression through an H19-independent pathwayHuman Molecular Genetics, 1996
- Mouse/human sequence divergence in a region with a paternal-specific methylation imprint at the human H19 locusHuman Molecular Genetics, 1996
- Imprinting mutations in the Beckwith—Wiedemann syndrome suggested by an altered imprinting pattern in the IGF2–H19 domainHuman Molecular Genetics, 1995
- Epigenetic lesions at the H19 locus in Wilms' tumour patientsNature Genetics, 1994
- Loss of imprinting of IGF2 is linked to reduced expression and abnormal methylation of H19 in Wilms' tumourNature Genetics, 1994
- Constitutional relaxation of insulin–like growth factor II gene imprinting associated with Wilms' tumour and gigantismNature Genetics, 1993
- Tumour-suppressor activity of H19 RNANature, 1993
- IGF2 is parentally imprinted during human embryogenesis and in the Beckwith–Wiedemann syndromeNature Genetics, 1993
- An infant with Beckwith-Wiedemann syndrome and chromosomal duplication 11p13→pter.: Correlation of symptoms between 11p trisomy and Beckwith-Wiedemann syndromeJournal of Human Genetics, 1986
- Abnormality of chromosome 11 in patients withfeatures of Beckwith-Wiedemann syndromeThe Journal of Pediatrics, 1983