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Select item 27674871.

Is gestation in Prader-Willi syndrome affected by the genetic subtype?

Merlin G. Butler, Jennifer Sturich, Susan E. Myers, June-Anne Gold, Virginia Kimonis, Daniel J. Driscoll

J Assist Reprod Genet. 2009 Aug; 26(8): 461–466. Published online 2009 Sep 17. doi: 10.1007/s10815-009-9341-7

PMCID:: PMC2767487

Abstract Article PDF–152K

Select item 16837592.

Angelman syndrome: three molecular classes identified with chromosome 15q11q13-specific DNA markers.

J H Knoll, R D Nicholls, R E Magenis, K Glatt, J M Graham, Jr, L Kaplan, M Lalande

Am J Hum Genet. 1990 Jul; 47(1): 149–155.

PMCID:: PMC1683759

Summary Page Browse PDF–1.2M

Select item 16864523.

Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients.

W P Robinson, A Bottani, Y G Xie, J Balakrishman, F Binkert, M Mächler, A Prader, A Schinzel

Am J Hum Genet. 1991 Dec; 49(6): 1219–1234.

PMCID:: PMC1686452

Summary Page Browse PDF–2.9M

Select item 17125104.

Angelman syndrome associated with an inversion of chromosome 15q11.2q24.3.

V Greger, J H Knoll, J Wagstaff, E Woolf, P Lieske, H Glatt, P A Benn, S S Rosengren, M Lalande

Am J Hum Genet. 1997 Mar; 60(3): 574–580.

PMCID:: PMC1712510

Summary Page Browse PDF–1.3M

Select item 17159125.

Balanced translocation 46,XY,t(2;15)(q37.2;q11.2) associated with atypical Prader-Willi syndrome.

J M Conroy, T A Grebe, L A Becker, K Tsuchiya, R D Nicholls, K Buiting, B Horsthemke, S B Cassidy, S Schwartz

Am J Hum Genet. 1997 Aug; 61(2): 388–394. doi: 10.1086/514852

PMCID:: PMC1715912

Summary Page Browse PDF–1.5M

Select item 17355426.

Microarray analysis of gene/transcript expression in Prader-Willi syndrome: deletion versus UPD

D Bittel, N Kibiryeva, Z Talebizadeh, M Butler

J Med Genet. 2003 Aug; 40(8): 568–574. doi: 10.1136/jmg.40.8.568

PMCID:: PMC1735542

Summary PDF–317K

Select item 18012337.

Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients.

S L Christian, W P Robinson, B Huang, A Mutirangura, M R Line, M Nakao, U Surti, A Chakravarti, D H Ledbetter

Am J Hum Genet. 1995 Jul; 57(1): 40–48.

PMCID:: PMC1801233

Summary Page Browse PDF–1.6M

Select item 19145368.

Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene.

C. C. Glenn, S. Saitoh, M. T. Jong, M. M. Filbrandt, U. Surti, D. J. Driscoll, R. D. Nicholls

Am J Hum Genet. 1996 Feb; 58(2): 335–346.

PMCID:: PMC1914536

Summary Page Browse PDF–2.7M

Select item 22689269.

Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region

Yong-hui Jiang, Kekio Wauki, Qian Liu, Jan Bressler, Yanzhen Pan, Catherine D Kashork, Lisa G Shaffer, Arthur L Beaudet

BMC Genomics. 2008; 9: 50. Published online 2008 Jan 28. doi: 10.1186/1471-2164-9-50

PMCID:: PMC2268926

Abstract Article PDF–831K

Select item 256807710.

A 9-year-old Male with a Duplication of Chromosome 3p25.3p26.2: Clinical Report and Gene Expression Analysis

Douglas C. Bittel, Nataliya Kibiryeva, Majed Dasouki, Joan H. M. Knoll, Merlin G. Butler

Am J Med Genet A. Author manuscript; available in PMC 2008 Oct 16.

Published in final edited form as: Am J Med Genet A. 2006 Mar 15; 140(6): 573–579. doi: 10.1002/ajmg.a.31132

PMCID:: PMC2568077

Abstract Article PDF–703K

Select item 270519711.

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

Abstract Article PDF–846K

Select item 276629012.

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

Abstract Article PDF–443K

Select item 168330513.

Localization of the gene encoding the GABAA receptor β3 subunit to the Angelman/Prader-Willi region of human chromosome 15

J. Wagstaff, J. H. M. Knoll, J. Fleming, E. F. Kirkness, A. Martin-Gallardo, F. Greenberg, J. M. Graham, J. Menninger, D. Ward, J. C. Venter, M. Lalande

Am J Hum Genet. 1991 Aug; 49(2): 330–337.

PMCID:: PMC1683305

Summary Page Browse PDF–1.3M

Select item 290993714.

Search for copy number variants in chromosomes 15q11-q13 and 22q11.2 in obsessive compulsive disorder

Richard Delorme, Daniel Moreno-De-Luca, Aurélie Gennetier, Wolfgang Maier, Pauline Chaste, Rainald Mössner, Hans Jörgen Grabe, Stephan Ruhrmann, Peter Falkai, Marie-Christine Mouren, Marion Leboyer, Michael Wagner, Catalina Betancur

BMC Med Genet. 2010; 11: 100. Published online 2010 Jun 21. doi: 10.1186/1471-2350-11-100

PMCID:: PMC2909937

Abstract Article PDF–530K

Select item 317293715.

Establishment of the first WHO international genetic reference panel for Prader Willi and Angelman syndromes

Jennifer Boyle, Malcolm Hawkins, David E Barton, Karen Meaney, Miriam Guitart, Anna O'Grady, Simon Tobi, Simon C Ramsden, Rob Elles, Elaine Gray, Paul Metcalfe, J Ross Hawkins

Eur J Hum Genet. 2011 Aug; 19(8): 857–864. Published online 2011 May 18. doi: 10.1038/ejhg.2011.59

PMCID:: PMC3172937

Abstract Article PDF–538K

Select item 342891716.

Maternally Derived Microduplications at 15q11-q13: Implication of Imprinted Genes in Psychotic Illness

Andrés Ingason, George Kirov, Ina Giegling, Thomas Hansen, Anthony R. Isles, Klaus D. Jakobsen, Kari T. Kristinsson, Louise le Roux, Omar Gustafsson, Nick Craddock, Hans-Jürgen Möller, Andrew McQuillin, Pierandrea Muglia, Sven Cichon, Marcella Rietschel, Roel A. Ophoff, Srdjan Djurovic, Ole A. Andreassen, Olli P.H. Pietiläinen, Leena Peltonen, Emma Dempster, David A. Collier, David St. Clair, Henrik B. Rasmussen, Birte Y. Glenthøj, Lambertus A. Kiemeney, Barbara Franke, Sarah Tosato, Chiara Bonetto, Evald Saemundsen, Stefán J. Hreidarsson, GROUP Investigators, Markus M. Nöthen, Hugh Gurling, Michael C. O’Donovan, Michael J. Owen, Engilbert Sigurdsson, Hannes Petursson, Hreinn Stefansson, Dan Rujescu, Kari Stefansson, Thomas Werge

Am J Psychiatry. Author manuscript; available in PMC 2012 Aug 28.

Published in final edited form as: Am J Psychiatry. 2011 Apr; 168(4): 408–417. Published online 2011 Feb 15. doi: 10.1176/appi.ajp.2010.09111660

PMCID:: PMC3428917

Abstract Article PDF–127K

Select item 368987317.

Growth Hormone Receptor (GHR) Gene Polymorphism and Prader-Willi Syndrome

Merlin G. Butler, Jennifer Roberts, Jena Hayes, Xiaoyu Tan, Ann M. Manzardo

Am J Med Genet A. Author manuscript; available in PMC 2014 Jul 1.

Published in final edited form as: Am J Med Genet A. 2013 Jul; 161(7): 1647–1653. Published online 2013 May 21. doi: 10.1002/ajmg.a.35980

PMCID:: PMC3689873

Abstract Article PDF–2.7M

Select item 374379218.

Psychiatric Illness and Intellectual Disability in the Prader–Willi Syndrome with Different Molecular Defects - A Meta Analysis

Lin Yang, Guo-dong Zhan, Jun-jie Ding, Hui-jun Wang, Duan Ma, Guo-ying Huang, Wen-hao Zhou

PLoS One. 2013; 8(8): e72640. Published online 2013 Aug 14. doi: 10.1371/journal.pone.0072640

PMCID:: PMC3743792

Abstract Article PDF–1.4M

Select item 375221719.

R-loop formation at Snord116 mediates topotecan inhibition of Ube3a-antisense and allele-specific chromatin decondensation

Weston T. Powell, Rochelle L. Coulson, Michael L. Gonzales, Florence K. Crary, Spencer S. Wong, Sarrita Adams, Robert A. Ach, Peter Tsang, Nazumi Alice Yamada, Dag H. Yasui, Frédéric Chédin, Janine M. LaSalle

Proc Natl Acad Sci U S A. 2013 Aug 20; 110(34): 13938–13943. Published online 2013 Aug 5. doi: 10.1073/pnas.1305426110

PMCID:: PMC3752217

Abstract Article PDF–1.0M

Select item 417169720.

Differential regulation of non-protein coding RNAs from Prader-Willi Syndrome locus

Chenna R. Galiveti, Carsten A. Raabe, Zoltán Konthur, Timofey S. Rozhdestvensky

Sci Rep. 2014; 4: 6445. Published online 2014 Sep 23. doi: 10.1038/srep06445

PMCID:: PMC4171697

Abstract Article PDF–1.1M

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