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

Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain‐of‐function variant: Initial experience

(2019) Alan Ma et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Cantú syndrome, the changing phenotype

(2018) Helen I. Roessler et al.   CLINICAL DYSMORPHOLOGY

Effective CRISPR/Cas9-based nucleotide editing in zebrafish to model human genetic cardiovascular disorders

(2018) Federico Tessadori et al.   Disease Models & Mechanisms

Cantu syndrome–associated SUR2 (ABCC9) mutations in distinct structural domains result in KATPchannel gain-of-function by differential mechanisms

(2017) Conor McClenaghan et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Neurologic and neuroimaging manifestations of Cantú syndrome

(2016) Christopher R. Leon Guerrero et al.   NEUROLOGY

De Novo Mutation inABCC9Causes Hypertrichosis Acromegaloid Facial Features Disorder

(2016) Hanan H. Afifi et al.   PEDIATRIC DERMATOLOGY

KATPchannel gain-of-function leads to increased myocardial L-type Ca2+current and contractility in Cantu syndrome

(2016) Mark D. Levin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Electrophysiologic consequences of KATP gain of function in the heart: Conduction abnormalities in Cantu syndrome

(2015) Mark D. Levin et al.   HEART RHYTHM

Consensus on the criteria needed for creating a rare-disease patient registry. A Delphi study

(2015) Clara Cavero-Carbonell et al.   JOURNAL OF PUBLIC HEALTH

Cantú Syndrome Resulting from Activating Mutation in theKCNJ8Gene

(2014) Paige E. Cooper et al.   HUMAN MUTATION

Aortic aneurysm and craniosynostosis in a family with Cantu syndrome

(2013) Yoko Hiraki et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations inABCC9

(2013) Johanna Christina Czeschik et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

K ATP Channels and Cardiovascular Disease

(2013) Colin G. Nichols et al.   CIRCULATION RESEARCH

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

(2013) Catherine A. Brownstein et al.   European Journal of Medical Genetics

Cantú Syndrome Is Caused by Mutations in ABCC9

(2012) Bregje W.M. van Bon et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Dominant missense mutations in ABCC9 cause Cantú syndrome

(2012) Magdalena Harakalova et al.   NATURE GENETICS

Cantú syndrome: Report of nine new cases and expansion of the clinical phenotype

(2011) Ingrid Scurr et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genetics and pathophysiology of neonatal diabetes mellitus

(2011) Rochelle N Naylor et al.   Journal of Diabetes Investigation

Muscle KATP Channels: Recent Insights to Energy Sensing and Myoprotection

(2010) Thomas P. Flagg et al.   PHYSIOLOGICAL REVIEWS

Research electronic data capture (REDCap)—A metadata-driven methodology and workflow process for providing translational research informatics support

(2008) Paul A. Harris et al.   JOURNAL OF BIOMEDICAL INFORMATICS