Microdeletion of LIT1 in Familial Beckwith-Wiedemann Syndrome
- 1 November 2004
- journal article
- Published by Elsevier BV in American Journal of Human Genetics
- Vol. 75 (5), 844-849
- https://doi.org/10.1086/425343
Abstract
No abstract availableKeywords
This publication has 14 references indexed in Scilit:
- Silencing of CDKN1C (p57KIP2) is associated with hypomethylation at KvDMR1 in Beckwith-Wiedemann syndromeJournal of Medical Genetics, 2003
- Regional loss of imprinting and growth deficiency in mice with a targeted deletion of KvDMR1Nature Genetics, 2002
- A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith–Wiedemann syndromeProceedings of the National Academy of Sciences of the United States of America, 1999
- Loss of imprinting of a paternally expressed transcript, with antisense orientation to K V LQT1, occurs frequently in Beckwith–Wiedemann syndrome and is independent of insulin-like growth factor II imprintingProceedings of the National Academy of Sciences of the United States of America, 1999
- Loss of imprinting in normal tissue of colorectal cancer patients with microsatellite instabilityNature Medicine, 1998
- Coding Mutations in p57 Are Present in Some Cases of Beckwith-Wiedemann Syndrome but Are Rare or Absent in Wilms TumorsAmerican Journal of Human Genetics, 1997
- Imprinting of the gene encoding a human cyclin-dependent kinase inhibitor, p57KIP2, on chromosome 11p15.Proceedings of the National Academy of Sciences of the United States of America, 1996
- Inherited microdeletions in the Angelman and Prader–Willi syndromes define an imprinting centre on human chromosome 15Nature Genetics, 1995
- Loss of imprinting of IGF2 is linked to reduced expression and abnormal methylation of H19 in Wilms' tumourNature Genetics, 1994
- Disruption of insulin–like growth factor 2 imprinting in Beckwith–Wiedemann syndromeNature Genetics, 1993