Molecular Mechanism of Angelman Syndrome in Two Large Families Involves an Imprinting Mutation

This publication has 43 references indexed in Scilit:

• Unexpected familial recurrence in Angelman syndrome
  American Journal of Medical Genetics, 1997
• De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome
  Nature Genetics, 1997
• UBE3A/E6-AP mutations cause Angelman syndrome
  Nature Genetics, 1997
• Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene
  Nature Genetics, 1996
• Inherited microdeletions in the Angelman and Prader–Willi syndromes define an imprinting centre on human chromosome 15
  Nature Genetics, 1995
• Protein ubiquitination involving an E1–E2–E3 enzyme ubiquitin thioester cascade
  Nature, 1995
• The critical region for Angelman syndrome lies between D15S122 and D15S113
  American Journal of Medical Genetics, 1994
• Characterization of a methylation imprint in the Prader — Willi syndrome chromosome region
  Human Molecular Genetics, 1993
• Modification of 15q11 — q13 DNA methylation imprints in unique Angelman and Prader — Willi patients
  Human Molecular Genetics, 1993
• Further evidence for dominant inheritance at the chromosome 15q11-13 locus in familial angelman syndrome
  American Journal of Medical Genetics, 1992