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Maria Iascone
Maria Iascone
AO Papa Giovanni XXIII -HPG23-Bergamo-Italy
Verified email at asst-pg23.it
Title
Cited by
Cited by
Year
Transaortic chordal cutting: mitral valve repair for obstructive hypertrophic cardiomyopathy with mild septal hypertrophy
P Ferrazzi, P Spirito, A Iacovoni, A Calabrese, K Migliorati, C Simon, ...
Journal of the American College of Cardiology 66 (15), 1687-1696, 2015
1812015
Endocardial fibroelastosis is caused by aberrant endothelial to mesenchymal transition
X Xu, I Friehs, T Zhong Hu, I Melnychenko, B Tampe, F Alnour, M Iascone, ...
Circulation research 116 (5), 857-866, 2015
1352015
Identification of de novo mutations and rare variants in hypoplastic left heart syndrome
M Iascone, R Ciccone, L Galletti, D Marchetti, F Seddio, AR Lincesso, ...
Clinical genetics 81 (6), 542-554, 2012
1322012
A contemporary European experience with surgical septal myectomy in hypertrophic cardiomyopathy
A Iacovoni, P Spirito, C Simon, M Iascone, G Di Dedda, P De Filippo, ...
European heart journal 33 (16), 2080-2087, 2012
1302012
Novel α-actinin 2 variant associated with familial hypertrophic cardiomyopathy and juvenile atrial arrhythmias: a massively parallel sequencing study
F Girolami, M Iascone, B Tomberli, S Bardi, M Benelli, G Marseglia, ...
Circulation: Cardiovascular Genetics 7 (6), 741-750, 2014
952014
Significance of sarcomere gene mutations analysis in the end-stage phase of hypertrophic cardiomyopathy
E Biagini, I Olivotto, M Iascone, MI Parodi, F Girolami, G Frisso, C Autore, ...
The American journal of cardiology 114 (5), 769-776, 2014
922014
Association between 5, 10-methylenetetrahydrofolate reductase C677T and A1298C polymorphisms and conotruncal heart defects
S Storti, S Vittorini, MR Iascone, M Sacchelli, A Collavoli, A Ripoli, ...
Walter de Gruyter 41 (3), 276-280, 2003
842003
Contemporary genetic testing in inherited cardiac disease: tools, ethical issues, and clinical applications
F Girolami, G Frisso, M Benelli, L Crotti, M Iascone, R Mango, ...
Journal of Cardiovascular Medicine 19 (1), 1-11, 2018
692018
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform
ED Mina, R Ciccone, F Brustia, B Bayindir, I Limongelli, A Vetro, ...
European Journal of Human Genetics 23 (3), 354-362, 2015
682015
DNA methylation signature for EZH2 functionally classifies sequence variants in three PRC2 complex genes
S Choufani, WT Gibson, AL Turinsky, BHY Chung, T Wang, K Garg, ...
The American Journal of Human Genetics 106 (5), 596-610, 2020
632020
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females
FC Radio, K Pang, A Ciolfi, MA Levy, A Hernández-García, L Pedace, ...
The American Journal of Human Genetics 108 (3), 502-516, 2021
612021
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders
MA Gillentine, T Wang, K Hoekzema, J Rosenfeld, P Liu, H Guo, CN Kim, ...
Genome medicine 13, 1-26, 2021
602021
Further delineation of Malan syndrome
M Priolo, D Schanze, K Tatton‐Brown, PA Mulder, J Tenorio, K Kooblall, ...
Human mutation 39 (9), 1226-1237, 2018
602018
Human iPSC modelling of a familial form of atrial fibrillation reveals a gain of function of If and ICaL in patient-derived cardiomyocytes
P Benzoni, G Campostrini, S Landi, V Bertini, E Marchina, M Iascone, ...
Cardiovascular Research 116 (6), 1147-1160, 2020
582020
Diagnostic yield of an algorithm for neonatal and infantile cholestasis integrating next-generation sequencing
E Nicastro, A Di Giorgio, D Marchetti, C Barboni, A Cereda, M Iascone, ...
The Journal of Pediatrics 211, 54-62. e4, 2019
522019
De novo variants in MAPK8IP3 cause intellectual disability with variable brain anomalies
K Platzer, H Sticht, SL Edwards, W Allen, KM Angione, MT Bonati, ...
The American Journal of Human Genetics 104 (2), 203-212, 2019
522019
Cohesin complex-associated holoprosencephaly
P Kruszka, SI Berger, V Casa, MR Dekker, J Gaesser, K Weiss, ...
Brain 142 (9), 2631-2643, 2019
512019
Measurement of brain natriuretic peptide in plasma samples and cardiac tissue extracts by means of an immunoradiometric assay method
S Del Ry, A Clerico, D Giannessi, MG Andreassi, R Caprioli, MR Iascone, ...
Scandinavian journal of clinical and laboratory investigation 60 (2), 81-90, 2000
452000
De novo EIF2AK1 and EIF2AK2 variants are associated with developmental delay, leukoencephalopathy, and neurologic decompensation
D Mao, CM Reuter, MRZ Ruzhnikov, AE Beck, EG Farrow, LT Emrick, ...
The American Journal of Human Genetics 106 (4), 570-583, 2020
402020
De novo variants in CNOT1, a central component of the CCR4-NOT complex involved in gene expression and RNA and protein stability, cause neurodevelopmental delay
LELM Vissers, S Kalvakuri, E de Boer, S Geuer, M Oud, I van Outersterp, ...
The American Journal of Human Genetics 107 (1), 164-172, 2020
392020
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