PMC Links for OMIM (Select 605436) - PMC

Select item 42978921.

Highly restricted deletion of the SNORD116 region is implicated in Prader–Willi Syndrome

Eric Bieth, Sanaa Eddiry, Véronique Gaston, Françoise Lorenzini, Alexandre Buffet, Françoise Conte Auriol, Catherine Molinas, Dorothée Cailley, Caroline Rooryck, Benoit Arveiler, Jérome Cavaillé, Jean Pierre Salles, Maïthé Tauber

Eur J Hum Genet. 2015 Feb; 23(2): 252–255. Published online 2014 Jun 11. doi: 10.1038/ejhg.2014.103

PMCID:: PMC4297892

Article PDF–484K

Select item 37926902.

A Prader–Willi locus lncRNA cloud modulates diurnal genes and energy expenditure

Weston T. Powell, Rochelle L. Coulson, Florence K. Crary, Spencer S. Wong, Robert A. Ach, Peter Tsang, N. Alice Yamada, Dag H. Yasui, Janine M. LaSalle

Hum Mol Genet. 2013 Nov 1; 22(21): 4318–4328. Published online 2013 Jun 13. doi: 10.1093/hmg/ddt281

PMCID:: PMC3792690

Article PDF–1.3M

Select item 27662903.

Imprinting regulates mammalian snoRNA-encoding chromatin decondensation and neuronal nucleolar size

Karen N. Leung, Roxanne O. Vallero, Amanda J. DuBose, James L. Resnick, Janine M. LaSalle

Hum Mol Genet. 2009 Nov 15; 18(22): 4227–4238. Published online 2009 Aug 5. doi: 10.1093/hmg/ddp373

PMCID:: PMC2766290

Article PDF–443K

Select item 27229874.

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

Adam J. de Smith, Carolin Purmann, Robin G. Walters, Richard J. Ellis, Susan E. Holder, Mieke M. Van Haelst, Angela F. Brady, Una L. Fairbrother, Mehul Dattani, Julia M. Keogh, Elana Henning, Giles S.H. Yeo, Stephen O'Rahilly, Philippe Froguel, I. Sadaf Farooqi, Alexandra I.F. Blakemore

Hum Mol Genet. 2009 Sep 1; 18(17): 3257–3265. Published online 2009 Jun 4. doi: 10.1093/hmg/ddp263

PMCID:: PMC2722987

Article PDF–393K

Select item 27051975.

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, Marwan Shinawi, Sarika U Peters, Richard E Person, Adolfo Garnica, Sau Wai Cheung, Arthur L Beaudet

Nat Genet. Author manuscript; available in PMC 2009 Jul 2.

Published in final edited form as: Nat Genet. 2008 Jun; 40(6): 719–721. Published online 2008 May 25. doi: 10.1038/ng.158

PMCID:: PMC2705197

Article PDF–846K

Select item 12885496.

Small Evolutionarily Conserved RNA, Resembling C/D Box Small Nucleolar RNA, Is Transcribed from PWCR1, a Novel Imprinted Gene in the Prader-Willi Deletion Region, Which Is Highly Expressed in Brain

Tala de los Santos, Johannes Schweizer, Christian A. Rees, Uta Francke

Am J Hum Genet. 2000 Nov; 67(5): 1067–1082. Published online 2000 Sep 26. doi: 10.1086/303106

PMCID:: PMC1288549

Article PDF–2.2M

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