Disruption of the Bipartite Imprinting Center in a Family with Angelman Syndrome

This publication has 16 references indexed in Scilit:

• A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect
  European Journal of Human Genetics, 1999
• Large genomic duplicons map to sites of instability in the Prader- Willi/Angelman syndrome chromosome region (15q11-q13)
  Human Molecular Genetics, 1999
• A Novel Imprinted Gene, Encoding a RING Zinc-Finger Protein, and Overlapping Antisense Transcript in the Prader-Willi Syndrome Critical Region
  Human Molecular Genetics, 1999
• The ancestral gene for transcribed, low-copy repeats in the Prader-Willi/Angelman region encodes a large protein implicated in protein trafficking, which is deficient in mice with neuromuscular and spermiogenic abnormalities.
  Human Molecular Genetics, 1999
• The chromosome 15 imprinting centre (IC) region has undergone multiple duplication events and contains an upstream exon of SNRPN that is deleted in all Angelman syndrome patients with an IC microdeletion
  Human Molecular Genetics, 1999
• Molecular Mechanism of Angelman Syndrome in Two Large Families Involves an Imprinting Mutation
  American Journal of Human Genetics, 1999
• Imprinting-Mutation Mechanisms in Prader-Willi Syndrome
  American Journal of Human Genetics, 1999
• Expressed copies of the MN7 (D15F37) gene family map close to the common deletion breakpoints in the Prader-Willi/Angelman syndromes
  Cytogenetic and Genome Research, 1998
• Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene
  Nature Genetics, 1996
• Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations.
  Proceedings of the National Academy of Sciences, 1996