Concepedia

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

Angela L. Duker, Blake C. Ballif, Erawati V. Bawle, Richard Person, Sangeetha Mahadevan, Sarah Alliman, Regina Thompson, Ryan N. Traylor, Bassem A. Bejjani, Lisa G. Shaffer,

European Journal of Human Genetics · 2010 · 320 citations · 22 references

DOIFull text

Open access

Concepts

References

22

Prader-Willi Syndrome: Consensus Diagnostic Criteria

Vanja A. Holm, Suzanne B. Cassidy, Merlin G. Butler et al. · PEDIATRICS · 1993 · 1.3K citations · Full text

, , +11

The snoRNA HBII-52 Regulates Alternative Splicing of the Serotonin Receptor 2C

Shivendra Kishore, Stefan Stamm · Science · 2005 · 700 citations

, , +16

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

Trilochan Sahoo, Daniela del Gaudio, Jennifer R. German et al. · Nature Genetics · 2008 · 664 citations · Full text

, , +11

Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization

Jérôme Cavaillé, Karin Buiting, Martin Kiefmann et al. · Proceedings of the National Academy of Sciences · 2000 · 597 citations

, , +12

The Changing Purpose of Prader-Willi Syndrome Clinical Diagnostic Criteria and Proposed Revised Criteria

Meral Gunay‐Aygun, Stuart Schwartz, Shauna Heeger et al. · PEDIATRICS · 2001 · 487 citations

, , +17