Epimutations in Prader-Willi and Angelman Syndromes: A Molecular Study of 136 Patients with an Imprinting Defect
- 1 March 2003
- journal article
- Published by Elsevier in American Journal of Human Genetics
- Vol. 72 (3) , 571-577
- https://doi.org/10.1086/367926
Abstract
No abstract availableKeywords
This publication has 24 references indexed in Scilit:
- Parent-Specific Complementary Patterns of Histone H3 Lysine 9 and H3 Lysine 4 Methylation at the Prader-Willi Syndrome Imprinting CenterAmerican Journal of Human Genetics, 2001
- Genome Organization, Function, and Imprinting in Prader-Willi and Angelman SyndromesAnnual Review of Genomics and Human Genetics, 2001
- Disruption of the Bipartite Imprinting Center in a Family with Angelman SyndromeAmerican Journal of Human Genetics, 2001
- A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defectEuropean Journal of Human Genetics, 1999
- Molecular Mechanism of Angelman Syndrome in Two Large Families Involves an Imprinting MutationAmerican Journal of Human Genetics, 1999
- Imprinting-Mutation Mechanisms in Prader-Willi SyndromeAmerican Journal of Human Genetics, 1999
- Sporadic Imprinting Defects in Prader-Willi Syndrome and Angelman Syndrome: Implications for Imprint-Switch Models, Genetic Counseling, and Prenatal DiagnosisAmerican Journal of Human Genetics, 1998
- Different Mechanisms and Recurrence Risks of Imprinting Defects in Angelman SyndromeAmerican Journal of Human Genetics, 1997
- Inherited microdeletions in the Angelman and Prader–Willi syndromes define an imprinting centre on human chromosome 15Nature Genetics, 1995
- An Ncil RFLP at the D15S63 locus in the critical Prader-Willi syndrome region in 15q11 – 13Human Molecular Genetics, 1993