Seven cases of Wiedemann-Beckwith syndrome, including the first reported case of mosaic paternal isodisomy along the whole chromosome 11
- 12 October 1998
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 79 (5) , 347-353
- https://doi.org/10.1002/(sici)1096-8628(19981012)79:5<347::aid-ajmg4>3.0.co;2-g
Abstract
No abstract availableKeywords
This publication has 35 references indexed in Scilit:
- Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome.Journal of Medical Genetics, 1997
- Deregulation of both imprinted and expressed alleles of the insulin–like growth factor 2 gene during β–cell tumorigenesisNature Genetics, 1995
- Single cell analysis demonstrating somatic mosaicism involving 11p in a patient with paternal isodisomy and Beckwith—Wiedemann syndromeHuman Molecular Genetics, 1995
- Genomic imprinting of Mash2, a mouse gene required for trophoblast developmentNature Genetics, 1995
- Clinical features and natural history of Beckwith‐Wiedemann syndrome: presentation of 74 new casesClinical Genetics, 1994
- Allele specific inactivation of insulin 1 and 2, in the mouse yolk sac, indicates imprintingNature Genetics, 1994
- Genetic mosaicism in normal tissues of Wilms' tumour patientsNature Genetics, 1993
- Chromosome 11 uniparental isodisomy predisposing to embryonal neoplasmsThe Lancet, 1991
- Embryological and molecular investigations of parental imprinting on mouse chromosome 7Nature, 1991
- Wiedemann-beckwith syndromeEuropean Journal of Pediatrics, 1988