Browse Title Index


 
Issue Title
 
Vol 1, No 1 (2011) 22q11.2 deletion (DiGeorge) syndrome: a mother’s open letter Abstract   PDF
Antonio Baldini, Maria Cristina Digilio, Bruno Marino
 
Vol 2, No 1 (2012) A new clonal chromosomal aberration (47, XY, +21) in atrial myxoma from an elderly male patient Abstract   PDF
Ewa Stępień, Grzegorz Grudzień, Marek Andres, Małgorzata Jakóbczyk, Dorota Czapczak, Przemysław Kapusta, Wiesław Frasik, Tomasz Myrdko, Jerzy Sadowski
 
Vol 1, No 1 (2011) A new era in cardiogenetics Abstract   PDF
Giuseppe Limongelli
 
Vol 1, No 1 (2011) A new understanding of endurance exercise Abstract   PDF
Joseph Sepe, Raffaella D'Alessandro
 
Vol 5, No 1 (2015) A post mortem assessment of a 25-year-old man with ascending aortic dissection and a novel MYLK variant Abstract   PDF
Katelyn Hodge, Katherine G. Spoonamore, Christopher B. Griffith, David D. Weaver, Patricia B.S. Celestino-Soper, Ty C. Lynnes, Hongyu Gao, Yunlong Liu, Matteo Vatta
 
Vol 2, No 1 (2012) An unusual case of familial hypertrophic cardiomyopathy with left ventricular systolic dysfunction: a still unsolved diagnosis Abstract   PDF
Elena Biagini, Chiara Pazzi, Stefania Rosmini, Ornella Leone, Domenico A. Coviello, Claudio Rapezzi
 
Vol 3, No 1S (2013): Special issue on Lysosomal Storage Diseases Anderson-Fabry, the histrionic disease: from genetics to clinical management Abstract   PDF   Supplementary
Franco Cecchi, Benedetta Tomberli, Amelia Morrone
 
Vol 3, No 1 (2013) Atrial fibrillation is poorly tolerated by patients with hypertrophic concentric cardiomyopathy caused by mitochondrial tRNALeu (UUR) mutations Abstract   PDF
Tiina M. Heliö, Alexandra Götz, Janne Rapola, Sari Kiuru-Enari, Sari Kivistö, Terttu Heikinheimo, Anu Suomalainen
 
Vol 1, No 1 (2011) Atrioventricular canal defect and associated genetic disorders: new insights into polydactyly syndromes Abstract   PDF
M. Cristina Digilio, Paolo Versacci, Francesca Lepri, Anwar Baban, Bruno Dallapiccola, Bruno Marino
 
Vol 4, No 1 (2014) Bicuspid aortic valve associated aortopathy: a genetic disease Abstract   PDF
Gibran Minero, Simon C. Body
 
Vol 4, No 1 (2014) Bicuspid aortic valve associated aortopathy: a genetic disease? Abstract   PDF
Ciro Bancone, Marisa De Feo, Alessandro Della Corte
 
Vol 1, No 1S (2011): Ion channel diseases: molecular basis, clinical findings, and management Brugada syndrome Abstract   PDF
Rachel Bastiaenen, Elijah R. Behr
 
Vol 2, No 1 (2012) Cardiac electrical system involvement in Alström syndrome: uncommon causes of dilated cardiomyopathies Abstract   PDF
Richard J. Czosek, Paula Goldenberg, Erin M. Miller, Robert Spicer, Jeffrey A. Towbin, Stephanie M. Ware
 
Vol 4, No 1 (2014) Cardiac imaging in RASopathies/mitogen activated protein kinase syndromes Abstract   PDF
Rita Gravino, Giuseppe Pacileo
 
Vol 3, No 1 (2013) Cardiovascular magnetic resonance in rare systemic diseases Abstract   PDF
Antonello D'Andrea, Marianna Fontana, Rosangela Cocchia, Raffaele Calabrò, Maria Giovanna Russo, James C. Moon
 
Vol 1, No 1S (2011): Ion channel diseases: molecular basis, clinical findings, and management Catecholaminergic polymorphic ventricular tachycardia in 2012 Abstract   PDF
Ineke Nederend, Christian van der Werf, Arthur A.M. Wilde
 
Vol 5, No 1 (2015) Clinical and genetic aspects of bicuspid aortic valve: a proposed model for family screening based on a review of literature Abstract   PDF
Hubert Baars, Eline Overwater, Marieke Baars, Barbara Mulder, Wilhelmina Kerstjens-Frederikse, Klaartje van Engelen, Arjan Houweling
 
Vol 4, No 1 (2014) Clinical management of familial hypercholesterolemia: new insights from international guidelines and recent studies Abstract   PDF
Anthony S. Wierzbicki
 
Vol 5, No 1 (2015) Clinical mass spectrometry in heart disease Abstract   PDF
Liam M. Heaney, Toru Suzuki
 
Vol 2, No 1 (2012) Combined use of in silico and in vitro splicing assays for interpretation of genomic variants of unknown significance in cardiomyopathies and channelopathies Abstract   PDF   Supplementary
Hervé Crehalet, Gilles Millat, Juliette Albuisson, Véronique Bonnet, Isabelle Rouvet, Robert Rousson, Dominique Bozon
 
Vol 4, No 1 (2014) Compound BMPR2 gene mutations in a malignant variant of idiopathic pulmonary arterial hypertension Abstract   PDF
Walter Serra, Nicola Marziliano, Domenico Corradi, Francesca Brigati, Mariano Intrieri, Nadia Sapere, Vittoria Caporale, Piera Angelica Merlini, Alfredo Chetta, Diego Ardissino
 
Vol 2, No 1 (2012) Compound heterozygous SCN5A gene mutations in asymptomatic Brugada syndrome child Abstract   PDF
Elena Sommariva, Matteo Vatta, Yutao Xi, Simone Sala, Tomohiko Ai, Jie Cheng, Carlo Pappone, Maurizio Ferrari, Sara Benedetti
 
Vol 3, No 1 (2013) Cost-effectiveness of genetic studies in inherited heart diseases Abstract   PDF
María Sabater-Molina, Esperanza García-Molina, Isabel Tovar, Francisco Ruiz-Espejo, Juan Ramón Gimeno, Mariano Valdés
 
Vol 3, No 1S (2013): Special issue on Lysosomal Storage Diseases Diagnosis and management of lysosomal storage disorders. Three key words: early, multidisciplinary, and network Abstract   PDF
Generoso Andria, Giuseppe Limongelli
 
Vol 7, No 1 (2017) Diagnosis of cardiomyopathies: tips and tricks for internists and general practitioners Abstract   PDF
Giuseppe Palmiero, Guido Carlomagno, Giacomo Lucivero
 
Vol 1, No 1 (2011) DNA variation in myoMIRs of the 1, 133, and 208 families in hypertrophic cardiomyopathy Abstract   PDF
María Palacín, Eliecer Coto, Julián R. Reguero, María Martín, César Morís, Belén Alonso, Marta Díaz, Ana I. Corao, Victoria Alvarez
 
Vol 3, No 1 (2013) Echocardiography in Fabry disease Abstract   PDF   Movie 1   Movie 2   Movie 3   Movie 4
Markus Niemann, Frank Weidemann
 
Vol 5, No 1 (2015) Fabry disease, a complex pathology not easy to diagnose Abstract   PDF
Paolo Colomba, Simone Scalia, Giuseppe Cammarata, Carmela Zizzo, Daniele Francofonte, Vincenzo Savica, Riccardo Alessandro, Francesco Iemolo, Giovanni Duro
 
Vol 1, No 1 (2011) Familial dilated cardiomyopathy associated with congenital defects in the setting of a novel VCL mutation (Lys815Arg) in conjunction with a known MYPBC3 variant Abstract   PDF
Quinn S. Wells, Natalie L. Ausborn, Birgit H. Funke, Jean P. Pfotenhauer, Joseph L. Fredi, Samantha Baxter, Thomas G. DiSalvo, Charles C. Hong
 
Vol 6, No 1 (2016) Genetic disturbances in patients with bodily isomerism from a single center: clinical implications of affected genes and potential impact of ciliary dyskinesia Abstract   PDF
Rohit S. Loomba, Peter C. Frommelt, Robert H. Anderson
 
Vol 1, No 1 (2011) Genetic testing for hypertrophic cardiomyopathy: ongoing voyage from exploration to clinical exploitation Abstract   PDF
Iacopo Olivotto, Heba Sh. Kassem, Francesca Girolami
 
Vol 1, No 1 (2011) Genetics of cardiomyopathies in children Abstract   PDF
Matteo Vatta, Jeffrey A. Towbin
 
Vol 3, No 1 (2013) High-density lipoproteincholesterol, reverse cholesterol transport, and cardiovascular risk: a tale of genetics? Abstract   PDF
Giovanni Cimmino, Chiara D’Amico, Giovanni Ciccarelli, Marco Golino, Alberto Morello, Saverio D’Elia, Valeria Marchese, Paolo Golino
 
Vol 2, No 1 (2012) Idiopathic restrictive cardiomyopathy - perspectives from genetics studies. Is it time to redefine these disorders? Abstract   PDF
Ajay Bahl, Uma Nahar Saikia, Madhu Khullar
 
Vol 3, No 1 (2013) Imaging in Rare Disease: a roadmap for diagnosis Abstract   PDF
Giovanni Di Salvo, Giuseppe Limongelli
 
Vol 2, No 1 (2012) Inherited cardiac disease Abstract   PDF
Philippe Charron
 
Vol 1, No 1S (2011): Ion channel diseases: molecular basis, clinical findings, and management Ion channels and beating heart: the players and the music Abstract   PDF
Lia Crotti, Giuseppe Limongelli, Charles Antzelevitch
 
Vol 3, No 1 (2013) J wave syndromes as a cause of sudden arrhythmic death Abstract   PDF
Charles Antzelevitch
 
Vol 3, No 1 (2013) Lamin A/C mutation affecting primarily the right side of the heart Abstract   PDF
Laura Ollila, Johanna Kuusisto, Keijo Peuhkurinen, Satu Kärkkäinen, Petri Tuomainen, Maija Kaartinen, Olayinka Raheem, Bjarne Udd, Jarkko Magga, Janne Rapola, Annukka M. Lahtinen, Eero Lehtonen, Miia Holmström, Sari Kivistö, Elisabeth Widén, Markku Saksa, Tiina Heliö
 
Vol 1, No 1S (2011): Ion channel diseases: molecular basis, clinical findings, and management Long QT syndrome: from genetic basis to treatment Abstract   PDF
Lia Crotti, Federica Dagradi, Peter J. Schwartz
 
Vol 1, No 1 (2011) LQTS-associated mutation A257G in α1-syntrophin interacts with the intragenic variant P74L to modify its biophysical phenotype Abstract   PDF
Jianding Cheng, David W. Van Norstrand, Argelia Medeiros-Domingo, David J. Tester, Carmen R. Valdivia, Bi-Hua Tan, Matteo Vatta, Jonathan C. Makielski, Michael J. Ackerman
 
Vol 1, No 1 (2011) Matrix metalloproteinase 9 polymorphism and outcome after myocardial infarction Abstract   PDF
Sophie Rodius, Guillermo Mulliert, Francisco Azuaje, Yvan Devaux, Daniel R. Wagner
 
Vol 6, No 1 (2016) Measurement of troponin in cardiomyopathies Abstract   PDF
Andrew Connelly, Iain N. Findlay, Caroline J. Coats
 
Vol 3, No 1S (2013): Special issue on Lysosomal Storage Diseases Molecular basis and clinical management of Gaucher disease Abstract   PDF
Maja Di Rocco, Andrea Loggini, Pierluigi Russo
 
Vol 3, No 1S (2013): Special issue on Lysosomal Storage Diseases Molecular basis and clinical management of Pompe disease Abstract   PDF
Giancarlo Parenti, Giuseppe Di Iorio, Simone Sampaolo, Giuseppe Fiorentino, Vincenzo Farina, Simona Fecarotta, Fabio Valente, Serena Ascione, Mario Caputi, Generoso Andria
 
Vol 3, No 1S (2013): Special issue on Lysosomal Storage Diseases Molecular basis, diagnosis and clinical management of mucopolysaccharidoses Abstract   PDF
Rossella Parini, Francesca Bertola, Pierluigi Russo
 
Vol 3, No 1 (2013) Muscular dystrophies: key elements for everyday diagnosis and management Abstract   PDF
Alberto Palladino, Gerardo Nigro, Luisa Politano
 
Vol 7, No 1 (2017) Mutations in hotspot region of MYH7 gene exon 23 associated with restrictive cardiomyopathy Abstract   PDF
Mitali Kapoor, Soumi Das, Amitabh Biswas, Sandeep Seth, Balram Bhargava, Vadlamudi Raghavendra Rao
 
Vol 3, No 1 (2013) Myocardial deformation imaging and rare cardiomyopathies with hypertrophic phenotype: a review focused on Fabry disease, Friedreich ataxia and amyloidosis Abstract   PDF
Bahaa Fadel, Luca Baldini, Valeria Pergola, Ziad Al Bulbul, Giovanni Di Salvo
 
Vol 2, No 1 (2012) Novel SCN5A mutation associated with idiopathic ventricular fibrillation due to subclinical Brugada syndrome Abstract   PDF
Juan Jiménez-Jáimez, Miguel Álvarez-López, Luis Tercedor-Sánchez, Pablo Santiago, Maria Algarra, Rocio Peñas, Francisca Valverde, Rafael Melgares-Moreno
 
Vol 5, No 1 (2015) Patent ductus arteriosus and pulmonary artery aneurism in a child affected by Loeys-Dietz syndrome Abstract   PDF
Marcello Marcì
 
Vol 6, No 1 (2016) Pathogenesis of Takotsubo syndrome Abstract   PDF
Daniele Masarone, Valeria Maddaloni, Marta Rubino, Fiorella Fratta, Annapaola Cirillo, Ludovica Spinelli Barrile, Roberta Pacileo, Adelaide Fusco, Guido Coppola, Francesca Pisacane, Paolo Calabrò, Raffaele Calabrò, Edoardo Bossone, Maria Giovanna Russo, Giuseppe Pacileo
 
Vol 5, No 1 (2015) Persistent left superior vena cava: an overlooked feature of CHARGE syndrome? Abstract   PDF
Paula Goldenberg, Amy Shikany, Ashley Parrott, Stephanie M. Ware, Robert B. Hinton
 
Vol 1, No 1 (2011) Phenotypic spectrum of mutations in cardiolaminopathies Abstract   PDF
Ali J. Marian
 
Vol 1, No 1S (2011): Ion channel diseases: molecular basis, clinical findings, and management Preface Abstract   PDF
Lia Crotti
 
Vol 2, No 1 (2012) Recent advances in cardiovascular research: systems biology Abstract   PDF
Raffaella D'Alessandro, Joseph Sepe
 
Vol 1, No 1S (2011): Ion channel diseases: molecular basis, clinical findings, and management Recent advances in the genetics of atrial fibrillation: from rare and common genetic variants to microRNA signaling Abstract   PDF
Moritz F. Sinner, Sebastian Clauss, Reza Wakili, Thomas Meitinger, Heidi Estner, Stefan Kääb
 
Vol 2, No 1 (2012) Restrictive cardiomyopathy and hypertrophic cardiomyopathy overlap: the importance of the phenotype Abstract   PDF
Juan Pablo Kaski, Elena Biagini, Massimo Lorenzini, Claudio Rapezzi, Perry Elliott
 
Vol 6, No 1 (2016) Reversible dilated cardiomyopathy: into the thaumaturgy of the heart - Part 1 Abstract   PDF   Video 1   Video 2
Giovanni Quarta, Raffale Coppini, Pier Lambiase, Pablo Garcia-Pavia, Alice Calabrese, Anna Maria Iorio, Niccolò Maurizi, Maria Iascone, Antonello Gavazzi, Iacopo Olivotto, Michele Senni
 
Vol 6, No 1 (2016) Reversible dilated cardiomyopathy: into the thaumaturgy of the heart - Part 2 Abstract   PDF
Giovanni Quarta, Raffaele Coppini, Pier Lambiase, Pablo Garcia-Pavia, Alice Calabrese, Anna Maria Iorio, Niccolò Maurizi, Maria Iascone, Antonello Gavazzi, Iacopo Olivotto, Michele Senni
 
Vol 1, No 1S (2011): Ion channel diseases: molecular basis, clinical findings, and management Short QT syndrome Abstract   PDF
Carla Giustetto, Chiara Scrocco, Daniela Giachino, Charles Antzelevitch, Fiorenzo Gaita
 
Vol 1, No 1S (2011): Ion channel diseases: molecular basis, clinical findings, and management Sudden infant death syndrome and cardiac channelopathies: from mechanisms to prevention of avoidable tragedies Abstract   PDF
Roberto Insolia, Alice Ghidoni, Cinzia Dossena, Elisa Mastantuono, Peter J. Schwartz
 
Vol 1, No 1 (2011) Tafazzin gene mutations are uncommon causes of dilated cardiomyopathy in adults Abstract   PDF
Matthew Taylor, Dobromir Slavov, Ernesto Salcedo, Xiao Zhu, Deborah Ferguson, Jean Jirikowic, Andrea Di Lenarda, Gianfranco Sinagra, Luisa Mestroni
 
Vol 2, No 1 (2012) Targeted capture and massively parallel sequencing in pediatric cardiomyopathy: development of novel diagnostics Abstract   PDF   Supplementary
Muhammad Tariq, Thanh-Tam Le, Patrick Putnam, Steven Kindel, Mehdi Keddache, Stephanie M. Ware
 
Vol 4, No 1 (2014) The impact of β 2 adrenergic receptor polymorphisms on the outcomes in cardiovascular diseases Abstract   PDF
Ersilia Cipolletta, Annalisa Carillo, Roberto Annunziata, Bruno Trimarco, Antonietta Franco, Guido Iaccarino
 
Vol 1, No 1 (2011) The interpretation of genetic tests in inherited cardiovascular diseases Abstract   PDF
Lorenzo Monserrat, Andrea Mazzanti, Martin Ortiz-Genga, Roberto Barriales-Villa, Diego Garcia-Giustiniani, Juan Ramon Gimeno-Blanes
 
Vol 2, No 1 (2012) The novel role of epigenetics in primary prevention of cardiovascular diseases Abstract   PDF
Claudio Napoli, Amelia Casamassimi, Vincenzo Grimaldi, Concetta Schiano, Teresa Infante, Alberto Zullo, Maria Lourdes Montesano, Laura Auriemma, Francesco Paolo De Luca, Gustavo De Iorio, Louis J. Ignarro, Francesco Paolo Mancini
 
Vol 1, No 1 (2011) Time for education in cardiogenetics Abstract   PDF
Philippe Charron, Perry Elliott
 
Vol 2, No 1 (2012) Transcriptional regulation of cardiac genes balance pro- and anti-hypertrophic mechanisms in hypertrophic cardiomyopathy Abstract   PDF
Nina Gennebäck, Gerhard Wikström, Urban Hellman, Jane-Lise Samuel, Anders Waldenström, Stellan Mörner
 
Vol 2, No 1S (2012): Update in cardiomyopathies and congestive heart failure Update in cardiomyopathies and congestive heart failure Abstract   PDF
The Heart Hospital, London, UK and Monaldi Hospital, Naples, Italy
 
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