๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Angelman syndrome: Mutations influence features in early childhood

โœ Scribed by Wen-Hann Tan; Carlos A. Bacino; Steven A. Skinner; Irina Anselm; Rene Barbieri-Welge; Astrid Bauer-Carlin; Arthur L. Beaudet; Terry Jo Bichell; Jennifer K. Gentile; Daniel G. Glaze; Lucia T. Horowitz; Sanjeev V. Kothare; Hye-Seung Lee; Mark P. Nespeca; Sarika U. Peters; Trilochan Sahoo; Dean Sarco; Susan E. Waisbren; Lynne M. Bird

Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
133 KB
Volume
155
Category
Article
ISSN
1552-4825

No coin nor oath required. For personal study only.

๐Ÿ“œ SIMILAR VOLUMES

Imprint switch mechanism indicated by mu
Imprint switch mechanism indicated by mutations in prader-willi and angelman syndromes
โœ Gavin Kelsey; Wolf Reik ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 727 KB

## Abstract Genomic imprinting is an epigenetic mechanism resulting in the preferential expression of the maternal or paternal alleles of a specific subset of genes in the mammalian genome. A key but relatively unexplored question is how imprints are established in the germline. New observations^(1

Investigation ofUBE3A andMECP2 in Angelm
Investigation ofUBE3A andMECP2 in Angelman syndrome (AS) and patients with features of AS
โœ Hitchins, Megan P. ;Rickard, Sarah ;Dhalla, Fatima ;de Vries, Bert B.A. ;Winter, ๐Ÿ“‚ Article ๐Ÿ“… 2004 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 80 KB ๐Ÿ‘ 2 views

## Abstract Angelman syndrome (AS) is an imprinted neurobehavioral disorder characterized by mental retardation, absent speech, excessive laughter, seizures, ataxia, and a characteristic EEG pattern. Classical lesions, including deletion, paternal disomy, or epigenetic mutation, are confirmatory of