De novo deletions of SNRPN exon 1 in early human and mouse embryos result in a paternal to maternal imprint switch

@article{Bielinska2000DeND,
  title={De novo deletions of SNRPN exon 1 in early human and mouse embryos result in a paternal to maternal imprint switch},
  author={Beata Bielinska and Susan M. Blaydes and Karin Buiting and Tao H. Yang and Malgorzata Krajewska-Walasek and Bernhard Horsthemke and Camilynn I. Brannan},
  journal={Nature Genetics},
  year={2000},
  volume={25},
  pages={74-78}
}
Prader-Willi syndrome (PWS) is a neurogenetic disease characterized by infantile hypotonia, gonadal hypoplasia, obsessive behaviour and neonatal feeding difficulties followed by hyperphagia, leading to profound obesity. PWS is due to a lack of paternal genetic information at 15q11–q13 (ref. 2). Five imprinted, paternally expressed genes map to the PWS region, MKRN3 (ref. 3), NDN (ref. 4), NDNL1 (ref. 5), SNRPN (refs 6–8) and IPW (ref. 9), as well as two poorly characterized framents designated… CONTINUE READING

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Genetics of Prader-Willi syndrome and Prader-Will-Like syndrome

Annals of pediatric endocrinology & metabolism • 2016

Genomic imprinting in mammals.

Cold Spring Harbor perspectives in biology • 2014

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