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489 results

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Novel compound mutations in the mitochondrial translation elongation factor (TSFM) gene cause severe cardiomyopathy with myocardial fibro-adipose replacement.
Perli E, Pisano A, Glasgow RIC, Carbo M, Hardy SA, Falkous G, He L, Cerbelli B, Pignataro MG, Zacara E, Re F, Della Monica PL, Morea V, Bonnen PE, Taylor RW, d'Amati G, Giordano C. Perli E, et al. Among authors: re f. Sci Rep. 2019 Mar 25;9(1):5108. doi: 10.1038/s41598-019-41483-9. Sci Rep. 2019. PMID: 30911037 Free PMC article.
A novel LAMP2 mutation associated with severe cardiac hypertrophy and microvascular remodeling in a female with Danon disease: a case report and literature review.
Bottillo I, Giordano C, Cerbelli B, D'Angelantonio D, Lipari M, Polidori T, Majore S, Bertini E, D'Amico A, Giannarelli D, De Bernardo C, Masuelli L, Musumeci F, Avella A, Re F, Zachara E, d'Amati G, Grammatico P. Bottillo I, et al. Among authors: re f. Cardiovasc Pathol. 2016 Sep-Oct;25(5):423-31. doi: 10.1016/j.carpath.2016.07.005. Epub 2016 Jul 25. Cardiovasc Pathol. 2016. PMID: 27497751 Review.
Evidence From Family Studies for Autoimmunity in Arrhythmogenic Right Ventricular Cardiomyopathy: Associations of Circulating Anti-Heart and Anti-Intercalated Disk Autoantibodies With Disease Severity and Family History.
Caforio ALP, Re F, Avella A, Marcolongo R, Baratta P, Seguso M, Gallo N, Plebani M, Izquierdo-Bajo A, Cheng CY, Syrris P, Elliott PM, d'Amati G, Thiene G, Basso C, Gregori D, Iliceto S, Zachara E. Caforio ALP, et al. Among authors: re f. Circulation. 2020 Apr 14;141(15):1238-1248. doi: 10.1161/CIRCULATIONAHA.119.043931. Epub 2020 Mar 2. Circulation. 2020. PMID: 32114801
Dilated cardiomyopathy due to a novel combination of TTN and BAG3 genetic variants: From acute heart failure to subclinical phenotypes.
Bottillo I, Giordano C, Ciccone MP, Pignataro MG, Albi F, Parisi G, Formicola D, Grotta S, Ranocchi F, Giuli MV, Checquolo S, Masuelli L, Re F, Majore S, d'Amati G, Grammatico P. Bottillo I, et al. Among authors: re f. Cardiovasc Pathol. 2024 Nov-Dec;73:107675. doi: 10.1016/j.carpath.2024.107675. Epub 2024 Jul 25. Cardiovasc Pathol. 2024. PMID: 39059779 Free article.
Diagnostic value of endomyocardial biopsy guided by electroanatomic voltage mapping in arrhythmogenic right ventricular cardiomyopathy/dysplasia.
Avella A, d'Amati G, Pappalardo A, Re F, Silenzi PF, Laurenzi F, DE Girolamo P, Pelargonio G, Dello Russo A, Baratta P, Messina G, Zecchi P, Zachara E, Tondo C. Avella A, et al. Among authors: re f. J Cardiovasc Electrophysiol. 2008 Nov;19(11):1127-34. doi: 10.1111/j.1540-8167.2008.01228.x. Epub 2008 Jun 12. J Cardiovasc Electrophysiol. 2008. PMID: 18554207 Clinical Trial.
Functional Characterization of a Novel Truncating Mutation in Lamin A/C Gene in a Family with a Severe Cardiomyopathy with Conduction Defects.
Gerbino A, Bottillo I, Milano S, Lipari M, Zio R, Morlino S, Mola MG, Procino G, Re F, Zachara E, Grammatico P, Svelto M, Carmosino M. Gerbino A, et al. Among authors: re f. Cell Physiol Biochem. 2017;44(4):1559-1577. doi: 10.1159/000485651. Epub 2017 Dec 4. Cell Physiol Biochem. 2017. PMID: 29197877 Free article.
Prediction and visualization data for the interpretation of sarcomeric and non-sarcomeric DNA variants found in patients with hypertrophic cardiomyopathy.
Bottillo I, D'Angelantonio D, Caputo V, Paiardini A, Lipari M, De Bernardo C, Majore S, Castori M, Zachara E, Re F, Grammatico P. Bottillo I, et al. Among authors: re f. Data Brief. 2016 Mar 10;7:607-13. doi: 10.1016/j.dib.2016.03.004. eCollection 2016 Jun. Data Brief. 2016. PMID: 27054166 Free PMC article.
489 results