A 5-kb imprinting center deletion in a family with Angelman syndrome reduces the shortest region of deletion overlap to 880 bp

Karin Buiting; Christina Lich; S Cottrell; Angela Barnicoat; Bernhard Horsthemke

doi:10.1007/s004399900196

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A 5-kb imprinting center deletion in a family with Angelman syndrome reduces the shortest region of deletion overlap to 880 bp

Karin Buiting, Christina Lich, S Cottrell, Angela Barnicoat, Bernhard Horsthemke

DOI: 10.1007/s004399900196

Human Genetics

Data up to Jan 2025

Published1999

Citations96

References4

Fields

Biology Genetics

Total Citations Per Year

Abstract

References (4)

Inherited microdeletions in the Angelman and Prader–Willi syndromes define an imprinting centre on human chromosome 15

1995 • 606 citations

Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations.

1996 • 176 citations

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

1999 • 89 citations

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

1999 • 65 citations

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