Novelli, Antonio
Novelli, Antonio
Facoltà Dipartimentale di Medicina
7q35 Microdeletion and 15q13.3 and Xp22.33 Microduplications in a Patient with Severe Myoclonic Epilepsy, Microcephaly, Dysmorphisms, Severe Psychomotor Delay and Intellectual Disability
2020-01-01 Paduano, Francesco; Colao, Emma; Loddo, Sara; Orlando, Valeria; Trapasso, Francesco; Novelli, Antonio; Perrotti, Nicola; Iuliano, Rodolfo
8p23.1 deletion: Look out for left ventricular hypertrabeculation and not only congenital heart diseases. Single-center experience and literature revision
2022-01-01 Cicenia, Marianna; Alesi, Viola; Orlando, Valeria; Magliozzi, Monia; Di Tommaso, Silvia; Iodice, Francesca G.; Pompei, Emanuela; Toscano, Alessandra; Digilio, Maria C.; Drago, Fabrizio; Novelli, Antonio; Baban, Anwar
A bottom-up spatially explicit methodology to estimate the space heating demand of the building stock at regional scale
2020-01-01 D'Alonzo, Valentina; Novelli, Antonio; Vaccaro, Roberto; Vettorato, Daniele; Albatici, Rossano; Diamantini, Corrado; Zambelli, Pietro
A Complex Genomic Rearrangement Resulting in Loss of Function of SCN1A and SCN2A in a Patient with Severe Developmental and Epileptic Encephalopathy
2022-01-01 Orlando, Valeria; Di Tommaso, Silvia; Alesi, Viola; Loddo, Sara; Genovese, Silvia; Catino, Giorgia; Martucci, Licia; Roberti, Maria Cristina; Trivisano, Marina; Dentici, Maria Lisa; Specchio, Nicola; Dallapiccola, Bruno; Ferretti, Alessandro; Novelli, Antonio
A new 1p36.13-1p36.12 microdeletion syndrome characterized by learning disability, behavioral abnormalities, and ptosis
2020-01-01 Aagaard Nolting, Line; Brasch-Andersen, Charlotte; Cox, Helen; Kanani, Farah; Parker, Michael; Fry, Andrew E.; Loddo, Sara; Novelli, Antonio; Dentici, Maria Lisa; Joss, Shelagh; Jørgensen, Joan P.; Fagerberg, Christina R.
A New Intronic Variant in ECEL1 in Two Patients with Distal Arthrogryposis Type 5D
2021-01-01 Alesi, Viola; Sessini, Francesca; Genovese, Silvia; Calvieri, Giusy; Sallicandro, Ester; Ciocca, Laura; Mingoia, Maura; Novelli, Antonio; Moi, Paolo
A new missense mutation in DPF2 gene related to Coffin Siris syndrome 7: Description of a mild phenotype expanding DPF2-related clinical spectrum and differential diagnosis among similar syndromes epigenetically determined
2020-01-01 Milone, Roberta; Gnazzo, Maria; Stefanutti, Elena; Serafin, Dorella; Novelli, Antonio
A Novel Autosomal Recessive Variant of the NRL Gene Causing Enhanced S-Cone Syndrome: A Morpho-Functional Analysis of Two Unrelated Pediatric Patients
2022-01-01 Iarossi, Giancarlo; Sinibaldi, Lorenzo; Passarelli, Chiara; Coppe’, Andrea Maria; Cappelli, Alessandro; Petrocelli, Gianni; Catena, Gino; Perrone, Chiara; Falsini, Benedetto; Novelli, Antonio; Bartuli, Andrea; Buzzonetti, Luca
A Novel Variant in RAD21 in Cornelia De Lange Syndrome Type 4: Case Report and Bioinformatic Analysis
2023-01-01 De Falco, Alessandro; De Brasi, Daniele; Della Monica, Matteo; Cesario, Claudia; Petrocchi, Stefano; Novelli, Antonio; D'Alterio, Giuseppe; Iolascon, Achille; Capasso, Mario; Piscopo, Carmelo
A PEDIATRIC CASE OF TEK-RELATED MALFORMATIONS AND MARFANOID HABITUS: AN INCIDENTAL FINDING OR A FEATURE?
2022-01-01 Buonuomo, P. S.; El Hachem, M.; Mastrogiorgio, G.; Pisaneschi, E.; Diociaiuti, A.; Rana, I.; Macchiaiolo, M.; Capolino, R.; Gonfiantini, M. V.; Vecchio, D.; Novelli, Antonio; Bartuli, A.
A Spatially-Explicit Economic and Financial Assessment of Closed-Loop Ground-Source Geothermal Heat Pumps: A Case Study for the Residential Buildings of Valle d'Aosta Region
2021-01-01 Novelli, Antonio; D’Alonzo, Valentina; Pezzutto, Simon; Poggio, Rubén Aarón Estrada; Casasso, Alessandro; Zambelli, Pietro
A ZFHX4 mutation associated with a recognizable neuropsychological and facial phenotype
2021-01-01 Fontana, Paolo; Ginevrino, Monia; Bejo, Kristel; Cantalupo, Giuseppina; Ciavarella, Maria; Lombardi, Cinzia; Maioli, Marianna; Scarano, Francesca; Costabile, Claudia; Novelli, Antonio; Lonardo, Fortunato
Arrhythmogenic cardiomyopathy in children according to "Padua criteria": Single pediatric center experience
2022-01-01 Cicenia, Marianna; Cantarutti, Nicoletta; Adorisio, Rachele; Silvetti, Massimo Stefano; Secinaro, Aurelio; Ciancarella, Paolo; Di Mambro, Corrado; Magliozzi, Monia; Novelli, Antonio; Amodeo, Antonio; Baban, Anwar; Drago, Fabrizio
Atypical 7q11.23 deletions excluding ELN gene result in Williams-Beuren syndrome craniofacial features and neurocognitive profile
2021-01-01 Alesi, Viola; Loddo, Sara; Orlando, Valeria; Genovese, Silvia; Di Tommaso, Silvia; Liambo, Maria Teresa; Pompili, Daniele; Ferretti, Daniele; Calacci, Chiara; Catino, Giorgia; Falasca, Roberto; Dentici, Maria Lisa; Novelli, Antonio; Digilio, Maria Cristina; Dallapiccola, Bruno
Autism and severe clinical phenotype in a patient with 8p21.2p11.21 deletion: Case report and literature review
2021-01-01 Arghir, Aurora; Papuc, Sorina Mihaela; Tutulan-Cunita, Andreea-Cristina; Erbescu, Alina; Loddo, Sara; Genovese, Silvia; Ciocca, Laura; Goldoni, Marina; Piscopo, Carmelo; Bernardini, Laura; Novelli, Antonio; Budisteanu, Magdalena
Autoantibodies against type I IFNs in patients with critical influenza pneumonia
2022-01-01 Zhang, Q.; Pizzorno, A.; Miorin, L.; Bastard, P.; Gervais, A.; Le Voyer, T.; Bizien, L.; Manry, J.; Rosain, J.; Philippot, Q.; Goavec, K.; Padey, B.; Cupic, A.; Laurent, E.; Saker, K.; Vanker, M.; Sarekannu, K.; Garcia-Salum, T.; Ferres, M.; Le Corre, N.; Sanchez-Cespedes, J.; Balsera-Manzanero, M.; Carratala, J.; Retamar-Gentil, P.; Abelenda-Alonso, G.; Valiente, A.; Tiberghien, P.; Zins, M.; Debette, S.; Meyts, I.; Haerynck, F.; Castagnoli, R.; Notarangelo, L. D.; Gonzalez-Granado, L. I.; Dominguez-Pinilla, N.; Andreakos, E.; Triantafyllia, V.; Rodriguez-Gallego, C.; Sole-Violan, J.; Ruiz-Hernandez, J. J.; Rodriguez de Castro, F.; Ferreres, J.; Briones, M.; Wauters, J.; Vanderbeke, L.; Feys, S.; Kuo, C. Y.; Lei, W. T.; Ku, C. L.; Tal, G.; Etzioni, A.; Hanna, S.; Fournet, T.; Casalegno, J. S.; Queromes, G.; Argaud, L.; Javouhey, E; Rosa-Calatrava, M.; Cordero, E.; Aydillo, T.; Medina, R. A.; Kisand, K.; Puel, A.; Jouanguy, E.; Abel, L.; Cobat, A.; Trouillet-Assant, S.; Garcia-Sastre, A.; Casanova, J. L.; COVID HUMAN GENETIC EFFORT, Consortium; Novelli, Antonio
Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects
2021-01-01 Beecroft, Sarah J.; Ayala, Marcos; Mcgillivray, George; Nanda, Vikas; Agolini, Emanuele; Novelli, Antonio; Digilio, Maria C.; Dotta, Andrea; Carrozzo, Rosalba; Clayton, Joshua; Gaffney, Lydia; Mclean, Catriona A.; Ng, Jessica; Laing, Nigel G.; Matteson, Paul; Millonig, James; Ravenscroft, Gianina
Biallelic variants in ZNF526 cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration
2022-01-01 Dentici, Maria Lisa; Alesi, Viola; Quinodoz, Mathieu; Robens, Barbara; Guerin, Andrea; Lebon, Sébastien; Poduri, Annapurna; Travaglini, Lorena; Graziola, Federica; Afenjar, Alexandra; Keren, Boris; Licursi, Valerio; Capuano, Alessandro; Dallapiccola, Bruno; Superti-Furga, Andrea; Novelli, Antonio
Blue Cone Monochromatism with Foveal Hypoplasia Caused by the Concomitant Effect of Variants in OPN1LW/OPN1MW and GPR143 Genes
2021-01-01 Iarossi, Giancarlo; Coppè, Andrea Maria; Passarelli, Chiara; Maltese, Paolo Enrico; Sinibaldi, Lorenzo; Cappelli, Alessandro; Cetola, Sarah; Novelli, Antonio; Buzzonetti, Luca
Cantù syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants
2020-01-01 Kortum, Fanny; Niceta, Marcello; Magliozzi, Monia; Kubat, Katja D.; Robertson, Stephen P.; Moresco, Angelica; Dentici, Maria Lisa; Baban, Anwar; Leoni, Chiara; Onesimo, Roberta; Obregon, Maria Gabriella; Digilio, Maria Cristina; Zampino, Giuseppe; Novelli, Antonio; Tartaglia, Marco; Kutsche, Kerstin
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 7q35 Microdeletion and 15q13.3 and Xp22.33 Microduplications in a Patient with Severe Myoclonic Epilepsy, Microcephaly, Dysmorphisms, Severe Psychomotor Delay and Intellectual Disability | 1-gen-2020 | Paduano, Francesco; Colao, Emma; Loddo, Sara; Orlando, Valeria; Trapasso, Francesco; Novelli, Antonio; Perrotti, Nicola; Iuliano, Rodolfo | |
| 8p23.1 deletion: Look out for left ventricular hypertrabeculation and not only congenital heart diseases. Single-center experience and literature revision | 1-gen-2022 | Cicenia, Marianna; Alesi, Viola; Orlando, Valeria; Magliozzi, Monia; Di Tommaso, Silvia; Iodice, Francesca G.; Pompei, Emanuela; Toscano, Alessandra; Digilio, Maria C.; Drago, Fabrizio; Novelli, Antonio; Baban, Anwar | |
| A bottom-up spatially explicit methodology to estimate the space heating demand of the building stock at regional scale | 1-gen-2020 | D'Alonzo, Valentina; Novelli, Antonio; Vaccaro, Roberto; Vettorato, Daniele; Albatici, Rossano; Diamantini, Corrado; Zambelli, Pietro | |
| A Complex Genomic Rearrangement Resulting in Loss of Function of SCN1A and SCN2A in a Patient with Severe Developmental and Epileptic Encephalopathy | 1-gen-2022 | Orlando, Valeria; Di Tommaso, Silvia; Alesi, Viola; Loddo, Sara; Genovese, Silvia; Catino, Giorgia; Martucci, Licia; Roberti, Maria Cristina; Trivisano, Marina; Dentici, Maria Lisa; Specchio, Nicola; Dallapiccola, Bruno; Ferretti, Alessandro; Novelli, Antonio | |
| A new 1p36.13-1p36.12 microdeletion syndrome characterized by learning disability, behavioral abnormalities, and ptosis | 1-gen-2020 | Aagaard Nolting, Line; Brasch-Andersen, Charlotte; Cox, Helen; Kanani, Farah; Parker, Michael; Fry, Andrew E.; Loddo, Sara; Novelli, Antonio; Dentici, Maria Lisa; Joss, Shelagh; Jørgensen, Joan P.; Fagerberg, Christina R. | |
| A New Intronic Variant in ECEL1 in Two Patients with Distal Arthrogryposis Type 5D | 1-gen-2021 | Alesi, Viola; Sessini, Francesca; Genovese, Silvia; Calvieri, Giusy; Sallicandro, Ester; Ciocca, Laura; Mingoia, Maura; Novelli, Antonio; Moi, Paolo | |
| A new missense mutation in DPF2 gene related to Coffin Siris syndrome 7: Description of a mild phenotype expanding DPF2-related clinical spectrum and differential diagnosis among similar syndromes epigenetically determined | 1-gen-2020 | Milone, Roberta; Gnazzo, Maria; Stefanutti, Elena; Serafin, Dorella; Novelli, Antonio | |
| A Novel Autosomal Recessive Variant of the NRL Gene Causing Enhanced S-Cone Syndrome: A Morpho-Functional Analysis of Two Unrelated Pediatric Patients | 1-gen-2022 | Iarossi, Giancarlo; Sinibaldi, Lorenzo; Passarelli, Chiara; Coppe’, Andrea Maria; Cappelli, Alessandro; Petrocelli, Gianni; Catena, Gino; Perrone, Chiara; Falsini, Benedetto; Novelli, Antonio; Bartuli, Andrea; Buzzonetti, Luca | |
| A Novel Variant in RAD21 in Cornelia De Lange Syndrome Type 4: Case Report and Bioinformatic Analysis | 1-gen-2023 | De Falco, Alessandro; De Brasi, Daniele; Della Monica, Matteo; Cesario, Claudia; Petrocchi, Stefano; Novelli, Antonio; D'Alterio, Giuseppe; Iolascon, Achille; Capasso, Mario; Piscopo, Carmelo | |
| A PEDIATRIC CASE OF TEK-RELATED MALFORMATIONS AND MARFANOID HABITUS: AN INCIDENTAL FINDING OR A FEATURE? | 1-gen-2022 | Buonuomo, P. S.; El Hachem, M.; Mastrogiorgio, G.; Pisaneschi, E.; Diociaiuti, A.; Rana, I.; Macchiaiolo, M.; Capolino, R.; Gonfiantini, M. V.; Vecchio, D.; Novelli, Antonio; Bartuli, A. | |
| A Spatially-Explicit Economic and Financial Assessment of Closed-Loop Ground-Source Geothermal Heat Pumps: A Case Study for the Residential Buildings of Valle d'Aosta Region | 1-gen-2021 | Novelli, Antonio; D’Alonzo, Valentina; Pezzutto, Simon; Poggio, Rubén Aarón Estrada; Casasso, Alessandro; Zambelli, Pietro | |
| A ZFHX4 mutation associated with a recognizable neuropsychological and facial phenotype | 1-gen-2021 | Fontana, Paolo; Ginevrino, Monia; Bejo, Kristel; Cantalupo, Giuseppina; Ciavarella, Maria; Lombardi, Cinzia; Maioli, Marianna; Scarano, Francesca; Costabile, Claudia; Novelli, Antonio; Lonardo, Fortunato | |
| Arrhythmogenic cardiomyopathy in children according to "Padua criteria": Single pediatric center experience | 1-gen-2022 | Cicenia, Marianna; Cantarutti, Nicoletta; Adorisio, Rachele; Silvetti, Massimo Stefano; Secinaro, Aurelio; Ciancarella, Paolo; Di Mambro, Corrado; Magliozzi, Monia; Novelli, Antonio; Amodeo, Antonio; Baban, Anwar; Drago, Fabrizio | |
| Atypical 7q11.23 deletions excluding ELN gene result in Williams-Beuren syndrome craniofacial features and neurocognitive profile | 1-gen-2021 | Alesi, Viola; Loddo, Sara; Orlando, Valeria; Genovese, Silvia; Di Tommaso, Silvia; Liambo, Maria Teresa; Pompili, Daniele; Ferretti, Daniele; Calacci, Chiara; Catino, Giorgia; Falasca, Roberto; Dentici, Maria Lisa; Novelli, Antonio; Digilio, Maria Cristina; Dallapiccola, Bruno | |
| Autism and severe clinical phenotype in a patient with 8p21.2p11.21 deletion: Case report and literature review | 1-gen-2021 | Arghir, Aurora; Papuc, Sorina Mihaela; Tutulan-Cunita, Andreea-Cristina; Erbescu, Alina; Loddo, Sara; Genovese, Silvia; Ciocca, Laura; Goldoni, Marina; Piscopo, Carmelo; Bernardini, Laura; Novelli, Antonio; Budisteanu, Magdalena | |
| Autoantibodies against type I IFNs in patients with critical influenza pneumonia | 1-gen-2022 | Zhang, Q.; Pizzorno, A.; Miorin, L.; Bastard, P.; Gervais, A.; Le Voyer, T.; Bizien, L.; Manry, J.; Rosain, J.; Philippot, Q.; Goavec, K.; Padey, B.; Cupic, A.; Laurent, E.; Saker, K.; Vanker, M.; Sarekannu, K.; Garcia-Salum, T.; Ferres, M.; Le Corre, N.; Sanchez-Cespedes, J.; Balsera-Manzanero, M.; Carratala, J.; Retamar-Gentil, P.; Abelenda-Alonso, G.; Valiente, A.; Tiberghien, P.; Zins, M.; Debette, S.; Meyts, I.; Haerynck, F.; Castagnoli, R.; Notarangelo, L. D.; Gonzalez-Granado, L. I.; Dominguez-Pinilla, N.; Andreakos, E.; Triantafyllia, V.; Rodriguez-Gallego, C.; Sole-Violan, J.; Ruiz-Hernandez, J. J.; Rodriguez de Castro, F.; Ferreres, J.; Briones, M.; Wauters, J.; Vanderbeke, L.; Feys, S.; Kuo, C. Y.; Lei, W. T.; Ku, C. L.; Tal, G.; Etzioni, A.; Hanna, S.; Fournet, T.; Casalegno, J. S.; Queromes, G.; Argaud, L.; Javouhey, E; Rosa-Calatrava, M.; Cordero, E.; Aydillo, T.; Medina, R. A.; Kisand, K.; Puel, A.; Jouanguy, E.; Abel, L.; Cobat, A.; Trouillet-Assant, S.; Garcia-Sastre, A.; Casanova, J. L.; COVID HUMAN GENETIC EFFORT, Consortium; Novelli, Antonio | |
| Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects | 1-gen-2021 | Beecroft, Sarah J.; Ayala, Marcos; Mcgillivray, George; Nanda, Vikas; Agolini, Emanuele; Novelli, Antonio; Digilio, Maria C.; Dotta, Andrea; Carrozzo, Rosalba; Clayton, Joshua; Gaffney, Lydia; Mclean, Catriona A.; Ng, Jessica; Laing, Nigel G.; Matteson, Paul; Millonig, James; Ravenscroft, Gianina | |
| Biallelic variants in ZNF526 cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration | 1-gen-2022 | Dentici, Maria Lisa; Alesi, Viola; Quinodoz, Mathieu; Robens, Barbara; Guerin, Andrea; Lebon, Sébastien; Poduri, Annapurna; Travaglini, Lorena; Graziola, Federica; Afenjar, Alexandra; Keren, Boris; Licursi, Valerio; Capuano, Alessandro; Dallapiccola, Bruno; Superti-Furga, Andrea; Novelli, Antonio | |
| Blue Cone Monochromatism with Foveal Hypoplasia Caused by the Concomitant Effect of Variants in OPN1LW/OPN1MW and GPR143 Genes | 1-gen-2021 | Iarossi, Giancarlo; Coppè, Andrea Maria; Passarelli, Chiara; Maltese, Paolo Enrico; Sinibaldi, Lorenzo; Cappelli, Alessandro; Cetola, Sarah; Novelli, Antonio; Buzzonetti, Luca | |
| Cantù syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants | 1-gen-2020 | Kortum, Fanny; Niceta, Marcello; Magliozzi, Monia; Kubat, Katja D.; Robertson, Stephen P.; Moresco, Angelica; Dentici, Maria Lisa; Baban, Anwar; Leoni, Chiara; Onesimo, Roberta; Obregon, Maria Gabriella; Digilio, Maria Cristina; Zampino, Giuseppe; Novelli, Antonio; Tartaglia, Marco; Kutsche, Kerstin |