PMC Links for Books (Select 3300172) - PMC

Select item 76542231.

Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry

Dorothy K. Grange, Helen I. Roessler, Conor McClenaghan, Karen Duran, Kathleen Shields, Maria S. Remedi, Nine V. A. M. Knoers, Jin-Moo Lee, Edwin P. Kirk, Ingrid Scurr, Sarah F. Smithson, Gautam K. Singh, Mieke M. van Haelst, Colin G. Nichols, Gijs van Haaften

Am J Med Genet C Semin Med Genet. Author manuscript; available in PMC 2020 Nov 10.

Published in final edited form as: Am J Med Genet C Semin Med Genet. 2019 Dec; 181(4): 658–681. doi: 10.1002/ajmg.c.31753

PMCID:: PMC7654223

Abstract Article PDF–2.2M

Select item 68658602.

Cantu syndrome and hypopituitarism: implications for endocrine monitoring

Nicholas J Theis, Toby Calvert, Peter McIntyre, Stephen P Robertson, Benjamin J Wheeler

Endocrinol Diabetes Metab Case Rep. 2019; 2019: 19-0103. Published online 2019 Nov 12. doi: 10.1530/EDM-19-0103

PMCID:: PMC6865860

Abstract Article PDF–1.0M

Select item 67738553.

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 62071444.

Prevalence of Adverse Events in Children With Congenital Hyperinsulinism Treated With Diazoxide

Adriana Herrera, Mary Ellen Vajravelu, Stephanie Givler, Lauren Mitteer, Catherine M Avitabile, Katherine Lord, Diva D De León

J Clin Endocrinol Metab. 2018 Dec; 103(12): 4365–4372. Published online 2018 Sep 21. doi: 10.1210/jc.2018-01613

PMCID:: PMC6207144

Abstract Article

Select item 58471235.

Cantú syndrome with coexisting familial pituitary adenoma

Pedro Marques, Rupert Spencer, Patrick J. Morrison, Ian M. Carr, Mary N. Dang, David T. Bonthron, Steven Hunter, Márta Korbonits

Endocrine. 2018; 59(3): 677–684. Published online 2018 Jan 11. doi: 10.1007/s12020-017-1497-9

PMCID:: PMC5847123

Abstract Article PDF–1.1M

Select item 49552816.

Neurologic and neuroimaging manifestations of Cantú syndrome: A case series

Christopher R. Leon Guerrero, Sheel Pathak, Dorothy K. Grange, Gautam K. Singh, Colin G. Nichols, Jin-Moo Lee, Katie D. Vo

Neurology. 2016 Jul 19; 87(3): 270–276. doi: 10.1212/WNL.0000000000002861

PMCID:: PMC4955281

Abstract Article PDF–343K

Select item 45447537.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Abstract Article PDF–960K

Select item 42778798.

Cantú Syndrome Resulting from Activating Mutation in the KCNJ8 Gene

Paige E. Cooper, Heiko Reutter, Joachim Woelfle, Hartmut Engels, Dorothy K. Grange, Gijs van Haaften, Bregje W. van Bon, Alexander Hoischen, Colin G. Nichols

Hum Mutat. Author manuscript; available in PMC 2015 Jul 1.

Published in final edited form as: Hum Mutat. 2014 Jul; 35(7): 809–813. Published online 2014 May 6. doi: 10.1002/humu.22555

PMCID:: PMC4277879

Abstract Article PDF–661K

Select item 39478699.

ABCC9 is a Novel Brugada and Early Repolarization Syndrome Susceptibility Gene

Dan Hu, Hector Barajas-Martínez, Andre Terzic, Sungjo Park, Ryan Pfeiffer, Elena Burashnikov, Yuesheng Wu, Martin Borggrefe, Christian Veltmann, Rainer Schimpf, John J. Cai, Gi-Byong Nam, Pramod Deshmukh, Melvin Scheinman, Mark Preminger, Jonathan Steinberg, Angélica López-Izquierdo, Daniela Ponce-Balbuena, Christian Wolpert, Michel Haïssaguerre, José Antonio Sánchez-Chapula, Charles Antzelevitch

Int J Cardiol. Author manuscript; available in PMC 2015 Feb 15.

Published in final edited form as: Int J Cardiol. 2014 Feb 15; 171(3): 431–442. Published online 2014 Jan 4. doi: 10.1016/j.ijcard.2013.12.084

PMCID:: PMC3947869

Abstract Article PDF–4.7M

Select item 390201710.

Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition

Catherine A. Brownstein, Meghan C. Towne, Lovelace J. Luquette, David J. Harris, Nicholas S. Marinakis, Peter Meinecke, Kerstin Kutsche, Philippe M. Campeau, Timothy W. Yu, David M. Margulies, Pankaj B. Agrawal, Alan H. Beggs

Eur J Med Genet. Author manuscript; available in PMC 2014 Dec 1.

Published in final edited form as: Eur J Med Genet. 2013 Dec; 56(12): 678–682. Published online 2013 Oct 28. doi: 10.1016/j.ejmg.2013.09.009

PMCID:: PMC3902017

Abstract Article PDF–1.7M

Select item 386540711.

The KCNJ8-S422L variant previously associated with J-wave syndromes is found at an increased frequency in Ashkenazi Jews

Krishna R Veeramah, Tatiana M Karafet, Daniel Wolf, Ricardo A Samson, Michael F Hammer

Eur J Hum Genet. 2014 Jan; 22(1): 94–98. Published online 2013 May 1. doi: 10.1038/ejhg.2013.78

PMCID:: PMC3865407

Abstract Article PDF–2.4M

Select item 284381112.

J Wave Syndromes

Charles Antzelevitch, Gan-Xin Yan

Heart Rhythm. Author manuscript; available in PMC 2011 Apr 1.

Published in final edited form as: Heart Rhythm. 2010 Apr; 7(4): 549–558. Published online 2009 Dec 11. doi: 10.1016/j.hrthm.2009.12.006

PMCID:: PMC2843811

Abstract Article PDF–2.5M

Select item 201330613.

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 199543814.

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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