论文信息 - Clinical phenotypes of MAGEL2 mutations and deletions - 字舞流文

Clinical phenotypes of MAGEL2 mutations and deletions

S. Bens | B. Horsthemke | J. Beygo | K. Hackmann | M. von der Hagen | K. Buiting | N. Di Donato

[1] B. Peters,et al. Truncating mutations of MAGEL2cause Prader-Willi phenotypes and autism , 2013, Nature Genetics.

[2] F. Michel,et al. Stochastic Loss of Silencing of the Imprinted Ndn/NDN Allele, in a Mouse Model and Humans with Prader-Willi Syndrome, Has Functional Consequences , 2013, PLoS genetics.

[3] J. Hirschhorn,et al. Central precocious puberty caused by mutations in the imprinted gene MKRN3. , 2013, The New England journal of medicine.

[4] J. Rosenfeld,et al. Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader–Willi syndrome , 2010, European Journal of Human Genetics.

[5] S. O’Rahilly,et al. A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism. , 2009, Human molecular genetics.

[6] R. Hochstenbach,et al. A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader–Willi syndrome , 2009, European Journal of Human Genetics.

[7] Marwan Shinawi,et al. Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster , 2008, Nature Genetics.