Clinical phenotypes of MAGEL2 mutations and deletions

Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism

(2013) Christian P Schaaf et al.   NATURE GENETICS

Central Precocious Puberty Caused by Mutations in the Imprinted Gene MKRN3

(2013) Ana Paula Abreu et al.   NEW ENGLAND JOURNAL OF MEDICINE

Stochastic Loss of Silencing of the Imprinted Ndn/NDN Allele, in a Mouse Model and Humans with Prader-Willi Syndrome, Has Functional Consequences

(2013) Anne Rieusset et al.   PLoS Genetics

Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader–Willi syndrome

(2010) Angela L Duker et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism

(2009) A. J. de Smith et al.   HUMAN MOLECULAR GENETICS

A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader–Willi syndrome

(2008) Deniz Kanber et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster

(2008) Trilochan Sahoo et al.   NATURE GENETICS