NOTCH3 variants of unknown significance underpin vascular dysfunction in neurodegenerative disease: a case series of three nfvPPA-FTD patients von Di Donna, M G, Colona, V L, Bagnato, M R, Bonomi, C G, Tirrito, L, Marchionni, E, Motta, C, Sangiuolo, F C, Martorana, A

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Expression analysis of the gene encoding for the U-box-type ubiquitin ligase UBE4A in human tissues von Contino, Gianmarco, Amati, Francesca, Pucci, Sabina, Pontieri, Eugenio, Pichiorri, Flavia, Novelli, Antonio, Botta, Annalisa, Mango, Ruggiero, Nardone, Anna Maria, Sangiuolo, Federica Carla, Citro, Gennaro, Spagnoli, Luigi Giusto, Novelli, Giuseppe

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LOX-1 and cancer: an indissoluble liaison von Murdocca, M., De Masi, C., Pucci, S., Mango, R., Novelli, G., Di Natale, C., Sangiuolo, F.

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Machine learning phenomics (MLP) combining deep learning with time-lapse-microscopy for monitoring colorectal adenocarcinoma cells gene expression and drug-response von D’Orazio, M., Murdocca, M., Mencattini, A., Casti, P., Filippi, J., Antonelli, G., Di Giuseppe, D., Comes, M. C., Di Natale, C., Sangiuolo, F., Martinelli, E.

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Assessing individual risk for AMD with genetic counseling, family history, and genetic testing von Cascella, R, Strafella, C, Longo, G, Manzo, L, Ragazzo, M, De Felici, C, Gambardella, S, Marsella, L T, Novelli, G, Borgiani, P, Sangiuolo, F, Cusumano, A, Ricci, F, Giardina, E

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Common polymorphisms in MIR146a, MIR128a and MIR27a genes contribute to neuropathy susceptibility in type 2 diabetes von Ciccacci, Cinzia, Morganti, Roberto, Di Fusco, Davide, D’Amato, Cinzia, Cacciotti, Laura, Greco, Carla, Rufini, Sara, Novelli, Giuseppe, Sangiuolo, Federica, Marfia, Girolama A., Borgiani, Paola, Spallone, Vincenza

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Rescue of murine silica-induced lung injury and fibrosis by human embryonic stem cells von SPITALIERI, P, QUITADAMO, M. C, ORLANDI, A, GUERRA, L, GIARDINA, E, CASAVOLA, V, NOVELLI, G, SALTINI, C, SANGIUOLO, F

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Mandibuloacral Dysplasia Is Caused by a Mutation in LMNA-Encoding Lamin A/C von Novelli, Giuseppe, Muchir, Antoine, Sangiuolo, Federica, Helbling-Leclerc, Anne, D’Apice, Maria Rosaria, Massart, Catherine, Capon, Francesca, Sbraccia, Paolo, Federici, Massimo, Lauro, Renato, Tudisco, Cosimo, Pallotta, Rosanna, Scarano, Gioacchino, Dallapiccola, Bruno, Merlini, Luciano, Bonne, Gisèle

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Characterization of endocrine features and genotype–phenotypes correlations in blepharophimosis–ptosis–epicanthus inversus syndrome type 1 von Nuovo, S., Passeri, M., Di Benedetto, E., Calanchini, M., Meldolesi, I., Di Giacomo, M. C., Petruzzi, D., Piemontese, M. R., Zelante, L., Sangiuolo, F., Novelli, G., Fabbri, A., Brancati, F.

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In Vivo and In Vitro Studies Support That a New Splicing Isoform of OLR1 Gene Is Protective Against Acute Myocardial Infarction von Mango, Ruggiero, Biocca, Silvia, del Vecchio, Francesca, Clementi, Fabrizio, Sangiuolo, Federica, Amati, Francesca, Filareto, Antonio, Grelli, Sandro, Spitalieri, Paola, Filesi, Ilaria, Favalli, Cartesio, Lauro, Renato, Mehta, Jawahar L, Romeo, Francesco, Novelli, Giuseppe

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Human embryonic stem cells recover in vivo acute lung inflammation bleomycin-induced von Spitalieri, P, Quitadamo, M C, Orlandi, A, Puxeddu, E, Curradi, G, Sangiuolo, F

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P1447Use of novel local impedance-based catheter in typical right atrial flutter ablation: preliminary data from a multicenter Italian study von Ducceschi, V, Pandozi, C, Arestia, A, Rossi, L, Bencardino, G, Segreti, L, Schillaci, V, Auricchio, C, Aperuta, F, Malacrida, M, Sangiuolo, R

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Optimized radiofrequency lesions through local impedance guidance for effective cavo-tricuspid isthmus ablation in typical right atrial flutter: data from the CHARISMA registry von Ducceschi, V, Carbone, A, Botto, G, Nigro, G, Lavalle, C, Infusino, T, Maglia, G, Nicolis, D, Zingarini, G, Del Giorno, G, Brasca, F, Rago, A, Auricchio, C, Malacrida, M, Sangiuolo, R

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Isolation of CF cell lines corrected at Δf508-CFTR locus by SFHR-mediated targeting von BRUSCIA, E, SANGIUOLO, F, SINIBALDI, P, GONCZ, K. K, NOVELLI, G, GRUENERT, D. C

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Epidemiology and a novel procedure for large scale analysis of CFTR rearrangements in classic and atypical CF patients: A multicentric Italian study von Tomaiuolo, R, Sangiuolo, F, Bombieri, C, Bonizzato, A, Cardillo, G, Raia, V, D'Apice, M.R, Bettin, M.D, Pignatti, P.F, Castaldo, G, Novelli, G

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Sequence-specific modification of genomic DNA by small DNA fragments von Gruenert, Dieter C, Bruscia, Emanuela, Novelli, Giuseppe, Colosimo, Alessia, Dallapiccola, Bruno, Sangiuolo, Federica, Goncz, Kaarin K

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I‐LASIK retreatment of residual refractive errors after microkeratome and femtosecond assisted LASIK von MENICACCI, F, FRUSCHELLI, M, MENICACCI, C, SANGIUOLO, M, HADIJSTILIANOU, T

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Prenatal diagnosis of Cockayne syndrome type A based on the identification of two novel mutations in the ERCC8 gene von Conte, Chiara, D'Apice, Maria Rosaria, Botta, Annalisa, Sangiuolo, Federica, Novelli, Giuseppe

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Use of hypo‐osmolar riboflavin for corneal cross‐linking in thin keratoconic corneas von FRUSCHELLI, M, BATISTI, C, MOTOLESE, I, SANGIUOLO, M, MENICACCI, F, MENICACCI, C, MOTOLESE, E

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Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene : a cystic fibrosis mutation of slavic origin common in Central and East Europe von DÖRK, T, MACEK, M. JR, ZEMKOVA, D, GINTER, E, PETROVA, N. V, IVASCHENKO, T, BARANOV, V, WITT, M, POGORZELSKI, A, BAL, J, ZEKANOWSKY, C, WAGNER, K, MEKUS, F, STUHRMANN, M, BAUER, I, SEYDEWITZ, H. H, NEUMANN, T, JAKUBICZKA, S, KRAUS, C, THAMM, B, NECHIPORENKO, M, LIVSHITS, L, MOSSE, N, TÜMMLER, B, TSUKERMAN, G, KADASI, L, RAVNIK-GLAVAC, M, GLAVAC, D, KOMEL, R, VOUK, K, KUCINSKAS, V, KRUMINA, A, TEDER, M, KOCHEVA, S, TZOUNTZOURIS, J, EFREMOV, G. D, ONAY, T, KIRDAR, B, MALONE, G, SCHWARZ, M, ZHAOQING ZHOU, FRIEDMAN, K. J, CARLES, S, CLAUSTRES, M, BOZON, D, CASALS, T, VERLINGUE, C, FEREC, C, TZETIS, M, KANAVAKIS, E, CUPPENS, H, BOMBIERI, C, PIGNATTI, P. F, SANGIUOLO, F, JORDANOVA, A, KUSIC, J, KREBSOVA, A, KOUDOVA, M, SAKMARYOVA, I. SR, VAVROVA, V

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