Screening for UBE3A gene mutations in a group of Angelman syndrome patients selected according to non-stringent clinical criteria

UBE3A/E6-AP mutations cause Angelman syndrome

1997 • 1,270 citations

De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome

1997 • 847 citations

Cloning and expression of the cDNA for E6-AP, a protein that mediates the interaction of the human papillomavirus E6 oncoprotein with p53.

1993 • 537 citations

The Angelman Syndrome-Associated Protein, E6-AP, Is a Coactivator for the Nuclear Hormone Receptor Superfamily

1999 • 444 citations

Localization of the E6-AP regions that direct human papillomavirus E6 binding, association with p53, and ubiquitination of associated proteins.

1993 • 377 citations

Angelman syndrome: Consensus for diagnostic criteria

1995 • 368 citations

Genetics of Angelman Syndrome

1999 • 202 citations

The spectrum of mutations in UBE3A causing Angelman syndrome

1999 • 163 citations

Mutation Analysis of UBE3A in Angelman Syndrome Patients

1998 • 150 citations

Localization of the E6-AP Regions That Direct Human Papillomavirus E6 Binding, Association with p53, and Ubiquitination of Associated Proteins

1993 • 149 citations

Imprinting analysis of three genes in the Prader — Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D15S225E)

1994 • 123 citations

Angelman syndrome due to paternal uniparental disomy of chromosome 15: A milder phenotype?

1994 • 122 citations

Phenotype–genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patients

1999 • 105 citations

Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling

1999 • 64 citations

Genomic Organization of theUBE3A/E6-AP Gene and Related Pseudogenes

1998 • 56 citations

Phenotypic differences in Angelman syndrome patients: Imprinting mutations show less frequently microcephaly and hypopigmentation than deletions

1996 • 43 citations

UBE3A "mutations" in two unrelated and phenotypically different Angelman syndrome patients

1998 • 23 citations

Phenotypic differences in Angelman syndrome patients: Imprinting mutations show less frequently microcephaly and hypopigmentation than deletions

1996 • 8 citations