Dynamic developmental regulation of the large non-coding RNA associated with the mouse 7C imprinted chromosomal region

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Calbindin D-28k, Neurophysiology, Synaptic Transmission +6

UBE3A/E6-AP mutations cause Angelman syndrome

Tatsuya Kishino, Marc Lalande, Joseph Wagstaff · Nature Genetics · 1997 · 1.3K citations

Mendelian Disorder, Genetic Disorder, Angelman Syndrome +6

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

Toshinobu Matsuura, James S. Sutcliffe, Ping Fang et al. · Nature Genetics · 1997 · 868 citations

Mendelian Disorder, Genetic Disorder, Angelman Syndrome +7

Mutation of the Angelman Ubiquitin Ligase in Mice Causes Increased Cytoplasmic p53 and Deficits of Contextual Learning and Long-Term Potentiation

Yong‐hui Jiang, Dawna Armstrong, Urs Albrecht et al. · Neuron · 1998 · 860 citations · Full text

Angelman Ubiquitin Ligase, Knockout Mouse, Molecular Neuroscience +8

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

Karin Buiting, Shinji Saitoh, Bärbel Dittrich et al. · Nature Genetics · 1995 · 598 citations

Developmental Biology, Genetic Disorder, Developmental Genetics +8