Comprehensive methylation analysis in typical and atypical PWS and AS patients with normal biparental chromosomes 15

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

Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region

James S. Sutcliffe, Mitsuyoshi Nakao, Susan L. Christian et al. · Nature Genetics · 1994 · 422 citations

Transcriptional Regulation, Cpg Island, Natural Sciences +10

A maternally methylated CpG island in <i>KvLQT1</i> is associated with an antisense paternal transcript and loss of imprinting in Beckwith–Wiedemann syndrome

Nancy J. Smilinich, Colleen D. Day, Galina V. Fitzpatrick et al. · Proceedings of the National Academy of Sciences · 1999 · 406 citations · Full text

Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader–Willi syndrome critical region

Tayfun Özçelık, Stuart E. Leff, Wendy P. Robinson et al. · Nature Genetics · 1992 · 295 citations

Small Nuclear Ribonucleoprotein, Transcriptional Regulation, Genetic Disorder +7

Imprinting-Mutation Mechanisms in Prader-Willi Syndrome

Tohru Ohta, Todd A. Gray, Peter K. Rogan et al. · The American Journal of Human Genetics · 1999 · 276 citations · Full text

Developmental Biology, Genetic Disorder, Genetics +5