PMC Links for OMIM (Select 601439) - PMC

Select item 67738551.

Marie F. Smeland, Conor McClenaghan, Helen I. Roessler, Sanne Savelberg, Geir Åsmund Myge Hansen, Helene Hjellnes, Kjell Arne Arntzen, Kai Ivar Müller, Andreas Rosenberger Dybesland, Theresa Harter, Monica Sala-Rabanal, Chris H. Emfinger, Yan Huang, Soma S. Singareddy, Jamie Gunn, David F. Wozniak, Attila Kovacs, Maarten Massink, Federico Tessadori, Sarah M. Kamel, Jeroen Bakkers, Maria S. Remedi, Marijke Van Ghelue, Colin G. Nichols, Gijs van Haaften

Nat Commun. 2019; 10: 4457. Published online 2019 Oct 1. doi: 10.1038/s41467-019-12428-7

PMCID:: PMC6773855

Abstract Article PDF–5.9M

Select item 35152042.

Exome sequencing of serous endometrial tumors identifies recurrent somatic mutations in chromatin-remodeling and ubiquitin ligase complex genes

Matthieu Le Gallo, Andrea J. O’Hara, Meghan L. Rudd, Mary Ellen Urick, Nancy F. Hansen, Nigel J. O’Neil, Jessica C. Price, Suiyuan Zhang, Bryant M. England, Andrew K. Godwin, Dennis C. Sgroi, NISC Comparative Sequencing Program, Philip Hieter, James C. Mullikin, Maria J. Merino, Daphne W. Bell

Nat Genet. Author manuscript; available in PMC 2013 Jun 1.

Published in final edited form as: Nat Genet. 2012 Dec; 44(12): 1310–1315. Published online 2012 Oct 28. doi: 10.1038/ng.2455

PMCID:: PMC3515204

Abstract Article PDF–691K

Select item 33702863.

Cantú Syndrome Is Caused by Mutations in ABCC9

Bregje W.M. van Bon, Christian Gilissen, Dorothy K. Grange, Raoul C.M. Hennekam, Hülya Kayserili, Hartmut Engels, Heiko Reutter, John R. Ostergaard, Eva Morava, Konstantinos Tsiakas, Bertrand Isidor, Martine Le Merrer, Metin Eser, Nienke Wieskamp, Petra de Vries, Marloes Steehouwer, Joris A. Veltman, Stephen P. Robertson, Han G. Brunner, Bert B.A. de Vries, Alexander Hoischen

Am J Hum Genet. 2012 Jun 8; 90(6): 1094–1101. doi: 10.1016/j.ajhg.2012.04.014

PMCID:: PMC3370286

Abstract Article PDF–356K

Select item 20133064.

K_ATP channel mutation confers risk for vein of Marshall adrenergic atrial fibrillation

Timothy M Olson, Alexey E Alekseev, Christophe Moreau, Xiaoke K Liu, Leonid V Zingman, Takashi Miki, Susumu Seino, Samuel J Asirvatham, Arshad Jahangir, Andre Terzic

Nat Clin Pract Cardiovasc Med. Author manuscript; available in PMC 2007 Oct 10.

Published in final edited form as: Nat Clin Pract Cardiovasc Med. 2007 Feb; 4(2): 110–116. doi: 10.1038/ncpcardio0792

PMCID:: PMC2013306

Abstract Article PDF–3.1M

Select item 19954385.

ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic K_ATP channel gating

Martin Bienengraeber, Timothy M Olson, Vitaliy A Selivanov, Eva C Kathmann, Fearghas O’Cochlain, Fan Gao, Amy B Karger, Jeffrey D Ballew, Denice M Hodgson, Leonid V Zingman, Yuan-Ping Pang, Alexey E Alekseev, Andre Terzic

Nat Genet. Author manuscript; available in PMC 2007 Oct 1.

Published in final edited form as: Nat Genet. 2004 Apr; 36(4): 382–387. Published online 2004 Mar 21. doi: 10.1038/ng1329

PMCID:: PMC1995438

Abstract Article PDF–2.3M

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