Marzia De Bortoli - Concepedia

Author

Marzia De Bortoli

University of Padua ORCID

Also Known As

Giovanni Vazza, M De Bortoli, M. De Bortoli, Marzia De Bortoli

Publications

1.5K

Citations

H-Index

Concepts

All Affiliations

University of Padua Neuroscience Institute Baylor College of Medicine Eurac Research Institute for Biomedicine

About

Marzia De Bortoli is an author at University of Padua specializing in medicine, cardiology, and cardiovascular genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	9	9	480
2	Engineering	2	2	50
3	Electrical Engineering	2	2	50
4	Natural Sciences	1	1	183
5	Immunology	1	1	39

Marzia De Bortoli

Publications

1.3K

Citations

H-Index

Page 1

	Year	Citations
Compound and Digenic Heterozygosity Predicts Lifetime Arrhythmic Outcome and Sudden Cardiac Death in Desmosomal Gene–Related Arrhythmogenic Right Ventricular Cardiomyopathy Ilaria Rigato, Barbara Bauce, Alessandra Rampazzo, Circulation Cardiovascular Genetics	2013	250
Mutations in the area composita protein αT-catenin are associated with arrhythmogenic right ventricular cardiomyopathy Jolanda van Hengel, Martina Calore, Barbara Bauce, European Heart Journal	2012	195
Multiple mutations in desmosomal proteins encoding genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia Barbara Bauce, Andrea Nava, Giorgia Beffagna, Heart Rhythm Cardiac MuscleCardiomyopathyMultiple MutationsNatural SciencesGenetics	2009	183
Clinical phenotype and diagnosis of arrhythmogenic right ventricular cardiomyopathy in pediatric patients carrying desmosomal gene mutations Barbara Bauce, Alessandra Rampazzo, Cristina Basso, Heart Rhythm CardiomyopathyHeart FailureDesmosomal Gene MutationsPediatric Heart DiseasePediatric Patients	2011	86
Missense mutations in Desmocollin-2 N-terminus, associated with arrhythmogenic right ventricular cardiomyopathy, affect intracellular localization of desmocollin-2 in vitro Giorgia Beffagna, Marzia De Bortoli, Andrea Nava, BMC Medical Genetics	2007	79
Desmin Mutations and Arrhythmogenic Right Ventricular Cardiomyopathy Alessandra Lorenzon, Giorgia Beffagna, Barbara Bauce, The American Journal of Cardiology	2012	66
Large Genomic Rearrangements of Desmosomal Genes in Italian Arrhythmogenic Cardiomyopathy Patients Kalliopi Pilichou, Elisabetta Lazzarini, Ilaria Rigato, Circulation Arrhythmia and Electrophysiology	2017	49
A founder <i>MYBPC3</i> mutation results in HCM with a high risk of sudden death after the fourth decade of life Chiara Calore, Marzia De Bortoli, Chiara Romualdi, Journal of Medical Genetics	2015	45
Whole-Exome Sequencing Identifies Pathogenic Variants in <i>TJP1</i> Gene Associated With Arrhythmogenic Cardiomyopathy Marzia De Bortoli, Alex V. Postma, Giulia Poloni, Circulation Genomic and Precision Medicine	2018	43
Homozygous Desmocollin-2 Mutations and Arrhythmogenic Cardiomyopathy Alessandra Lorenzon, Kalliopi Pilichou, Ilaria Rigato, The American Journal of Cardiology Homozygous Desmocollin-2 MutationsCardiomyopathyGeneticsMedicineCardiology	2015	42

Page 1