Novelli, Antonio
Novelli, Antonio
Facoltà Dipartimentale di Medicina
15q11.2 microdeletion and hypoplastic left heart syndrome
2015-01-01 Barone, Chiara; Novelli, Antonio; Bianca, Innocenzo; Del Grano, Antonella Cataliotti; Campisi, Marcello; Ettore, Carla; Pappalardo, Elisa; Indaco, Lara; Ettore, Giuseppe; Bartoloni, Giovanni; Bianca, Sebastiano
16p subtelomeric duplication: a clinically recognizable syndrome
2009-01-01 Digilio, Maria Cristina; Bernardini, Laura; Capalbo, Anna; Capolino, Rossella; Gagliardi, Maria Giulia; Marino, Bruno; Novelli, Antonio; Dallapiccola, Bruno
16q22.1 microdeletion detected by array-CGH in a family with mental retardation and lobular breast cancer
2012-01-01 Palka Bayard de Volo, Chiara; Alfonsi, Melissa; Gatta, Valentina; Novelli, Antonio; Bernardini, Laura; Fantasia, Donatella; Antonucci, Ivana; Angelucci, Domenico; Zori, Robert; Stuppia, Liborio; Chiarelli, Francesco; Calabrese, Giuseppe
17p13.1 Microdeletion: Genetic and Clinical Findings in a New Patient With Epilepsy and Comparison With Literature
2014-01-01 Giordano, Lucio; Palestra, Filippo; Giuffrida Maria, Grazia; Molinaro, Anna; Iodice, Alessandro; Bernardini, Laura; La Boria, Paola; Accorsi, Patrizia; Novelli, Antonio
1p36 deletion syndrome and the aorta: A report of three new patients and a literature review
2021-01-01 Lodato, V.; Orlando, V.; Alesi, V.; Di Tommaso, S.; Bengala, M.; Parlapiano, G.; Agnolucci, E.; Cicenia, M.; Cali, F.; Digilio, M. C.; Drago, F.; Novelli, A.; Baban, A.
2q31.2q32.3 Deletion Syndrome: Report of an Adult Patient
2009-01-01 Prontera, Paolo; Bernardini, Laura; Stangoni, Gabriela; Capalbo, Anna; Rogaia, Daniela; Ardisia, Carmela; Novelli, Antonio; Dallapiccola, Bruno; Donti, Emilio
2q33.1q34 Deletion in a Girl with Brain Anomalies and Anorectal Malformation
2016-01-01 Ronzoni, Luisa; Novelli, Antonio; Brisighelli, Giulia; Peron, Angela; Triulzi, Fabio; Bianchi, Vera; Leva, Ernesto; Bedeschi, Maria F.
335.4kb microduplication in chromosome band Xp11.2p11.3 associated with developmental delay, growth retardation, autistic disorder and dysmorphic features
2012-01-01 Alesi, Viola; Bertoli, Marta; Barrano, Giuseppe; Torres, Barbara; Pusceddu, Silvia; Pastorino, Myriam; Perria, Chiara; Nardone, Anna Maria; Novelli, Antonio; Serra, Gigliola
3q27.3 microdeletional syndrome: A recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder
2014-01-01 Thevenon, Julien; Callier, Patrick; Poquet, Hélène; Bache, Iben; Menten, Bjorn; Malan, Valérie; Cavaliere, Maria Luigia; Girod, Jean-Paul; Thauvin-Robinet, Christel; El Chehadeh, Salima; Pinoit, Jean-Michel; Huet, Frederic; Verges, Bruno; Petit, Jean-Michel; Mosca-Boidron, Anne-Laure; Marle, Nathalie; Mugneret, Francine; Masurel-Paulet, Alice; Novelli, Antonio; Tümer, Zeynep; Loeys, Bart; Lyonnet, Stanislas; Faivre, Laurence
3q29 Microdeletion: A mental Retardation Disorder Unassociated With a Recognizable Phenotype in Two Mother-Daughter Pairs
2009-01-01 Digilio, Maria Cristina; Bernardini, Laura; Mingarelli, Rita; Capolino, Rossella; Capalbo, Anna; Giuffrida, Maria Grazia; Versacci, Paolo; Novelli, Antonio; Dallapiccola, Bruno
6p25 Interstitial deletion in two dizygotic twins with gyral pattern anomaly and speech and language disorder
2013-01-01 Bozza, Margherita; Bernardini, Laura; Novelli, Antonio; Brovedani, Paola; Moretti, Elena; Canapicchi, Raffaello; Doccini, Viola; Filippi, Tiziana; Battaglia, Agatino
7q11.23 microduplication syndrome: Clinical and neurobehavioral profiling
2020-01-01 Dentici, M. L.; Bergonzini, P.; Scibelli, F.; Caciolo, C.; De Rose, P.; Cumbo, F.; Alesi, V.; Capolino, R.; Zanni, G.; Sinibaldi, L.; Novelli, A.; Tartaglia, M.; Digilio, M. C.; Dallapiccola, B.; Vicari, S.; Alfieri, P.
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
9q34.3 microduplications lead to Neurodevelopmental Disorders through EHMT1 overexpression
2019-01-01 Bonati, Maria Teresa; Castronovo, Chiara; Sironi, Alessandra; Zimbalatti, Dario; Bestetti, Ilaria; Crippa, Milena; Novelli, Antonio; Loddo, Sara; Dentici, Maria Lisa; Taylor, Juliet; Devillard, Françoise; Larizza, Lidia; Finelli, Palma
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 Case of CDKL5 Deficiency Due to an X Chromosome Pericentric Inversion: Delineation of Structural Rearrangements as an Overlooked Recurrent Pathological Mechanism
2024-01-01 Lombardo, A.; Sinibaldi, L.; Genovese, S.; Catino, G.; Mei, V.; Pompili, D.; Sallicandro, E.; Falasca, R.; Liambo, M. T.; Faggiano, M. V.; Roberti, M. C.; Di Donato, M.; Vitelli, A.; Russo, S.; Giannini, R.; Micalizzi, A.; Pietrafusa, N.; Digilio, M. C.; Novelli, Antonio; Fusco, L.; Alesi, V.
A Case of Patient with Rubinstein-Taybi Syndrome Type 2 with Complete Deletion of EP300 Gene and Complex Phenotype
2016-01-01 Santoro, Elisa; Marini, Romana; Novelli, Antonio; Alesi, Viola; Dentici, Maria Lisa; Cappa, Marco
A case report on filamin A gene mutation and progressive pulmonary disease in an infant A lung tissued derived mesenchymal stem cell study
2018-01-01 Calcaterra, Valeria; Avanzini, Maria Antonietta; Mantelli, Melissa; Agolini, Emanuele; Croce, Stefania; De Silvestri, Annalisa; Re, Giuseppe; Collura, Mirella; Maltese, Alice; Novelli, Antonio; Pelizzo, Gloria
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
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 15q11.2 microdeletion and hypoplastic left heart syndrome | 1-gen-2015 | Barone, Chiara; Novelli, Antonio; Bianca, Innocenzo; Del Grano, Antonella Cataliotti; Campisi, Marcello; Ettore, Carla; Pappalardo, Elisa; Indaco, Lara; Ettore, Giuseppe; Bartoloni, Giovanni; Bianca, Sebastiano | |
| 16p subtelomeric duplication: a clinically recognizable syndrome | 1-gen-2009 | Digilio, Maria Cristina; Bernardini, Laura; Capalbo, Anna; Capolino, Rossella; Gagliardi, Maria Giulia; Marino, Bruno; Novelli, Antonio; Dallapiccola, Bruno | |
| 16q22.1 microdeletion detected by array-CGH in a family with mental retardation and lobular breast cancer | 1-gen-2012 | Palka Bayard de Volo, Chiara; Alfonsi, Melissa; Gatta, Valentina; Novelli, Antonio; Bernardini, Laura; Fantasia, Donatella; Antonucci, Ivana; Angelucci, Domenico; Zori, Robert; Stuppia, Liborio; Chiarelli, Francesco; Calabrese, Giuseppe | |
| 17p13.1 Microdeletion: Genetic and Clinical Findings in a New Patient With Epilepsy and Comparison With Literature | 1-gen-2014 | Giordano, Lucio; Palestra, Filippo; Giuffrida Maria, Grazia; Molinaro, Anna; Iodice, Alessandro; Bernardini, Laura; La Boria, Paola; Accorsi, Patrizia; Novelli, Antonio | |
| 1p36 deletion syndrome and the aorta: A report of three new patients and a literature review | 1-gen-2021 | Lodato, V.; Orlando, V.; Alesi, V.; Di Tommaso, S.; Bengala, M.; Parlapiano, G.; Agnolucci, E.; Cicenia, M.; Cali, F.; Digilio, M. C.; Drago, F.; Novelli, A.; Baban, A. | |
| 2q31.2q32.3 Deletion Syndrome: Report of an Adult Patient | 1-gen-2009 | Prontera, Paolo; Bernardini, Laura; Stangoni, Gabriela; Capalbo, Anna; Rogaia, Daniela; Ardisia, Carmela; Novelli, Antonio; Dallapiccola, Bruno; Donti, Emilio | |
| 2q33.1q34 Deletion in a Girl with Brain Anomalies and Anorectal Malformation | 1-gen-2016 | Ronzoni, Luisa; Novelli, Antonio; Brisighelli, Giulia; Peron, Angela; Triulzi, Fabio; Bianchi, Vera; Leva, Ernesto; Bedeschi, Maria F. | |
| 335.4kb microduplication in chromosome band Xp11.2p11.3 associated with developmental delay, growth retardation, autistic disorder and dysmorphic features | 1-gen-2012 | Alesi, Viola; Bertoli, Marta; Barrano, Giuseppe; Torres, Barbara; Pusceddu, Silvia; Pastorino, Myriam; Perria, Chiara; Nardone, Anna Maria; Novelli, Antonio; Serra, Gigliola | |
| 3q27.3 microdeletional syndrome: A recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder | 1-gen-2014 | Thevenon, Julien; Callier, Patrick; Poquet, Hélène; Bache, Iben; Menten, Bjorn; Malan, Valérie; Cavaliere, Maria Luigia; Girod, Jean-Paul; Thauvin-Robinet, Christel; El Chehadeh, Salima; Pinoit, Jean-Michel; Huet, Frederic; Verges, Bruno; Petit, Jean-Michel; Mosca-Boidron, Anne-Laure; Marle, Nathalie; Mugneret, Francine; Masurel-Paulet, Alice; Novelli, Antonio; Tümer, Zeynep; Loeys, Bart; Lyonnet, Stanislas; Faivre, Laurence | |
| 3q29 Microdeletion: A mental Retardation Disorder Unassociated With a Recognizable Phenotype in Two Mother-Daughter Pairs | 1-gen-2009 | Digilio, Maria Cristina; Bernardini, Laura; Mingarelli, Rita; Capolino, Rossella; Capalbo, Anna; Giuffrida, Maria Grazia; Versacci, Paolo; Novelli, Antonio; Dallapiccola, Bruno | |
| 6p25 Interstitial deletion in two dizygotic twins with gyral pattern anomaly and speech and language disorder | 1-gen-2013 | Bozza, Margherita; Bernardini, Laura; Novelli, Antonio; Brovedani, Paola; Moretti, Elena; Canapicchi, Raffaello; Doccini, Viola; Filippi, Tiziana; Battaglia, Agatino | |
| 7q11.23 microduplication syndrome: Clinical and neurobehavioral profiling | 1-gen-2020 | Dentici, M. L.; Bergonzini, P.; Scibelli, F.; Caciolo, C.; De Rose, P.; Cumbo, F.; Alesi, V.; Capolino, R.; Zanni, G.; Sinibaldi, L.; Novelli, A.; Tartaglia, M.; Digilio, M. C.; Dallapiccola, B.; Vicari, S.; Alfieri, P. | |
| 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 | |
| 9q34.3 microduplications lead to Neurodevelopmental Disorders through EHMT1 overexpression | 1-gen-2019 | Bonati, Maria Teresa; Castronovo, Chiara; Sironi, Alessandra; Zimbalatti, Dario; Bestetti, Ilaria; Crippa, Milena; Novelli, Antonio; Loddo, Sara; Dentici, Maria Lisa; Taylor, Juliet; Devillard, Françoise; Larizza, Lidia; Finelli, Palma | |
| 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 Case of CDKL5 Deficiency Due to an X Chromosome Pericentric Inversion: Delineation of Structural Rearrangements as an Overlooked Recurrent Pathological Mechanism | 1-gen-2024 | Lombardo, A.; Sinibaldi, L.; Genovese, S.; Catino, G.; Mei, V.; Pompili, D.; Sallicandro, E.; Falasca, R.; Liambo, M. T.; Faggiano, M. V.; Roberti, M. C.; Di Donato, M.; Vitelli, A.; Russo, S.; Giannini, R.; Micalizzi, A.; Pietrafusa, N.; Digilio, M. C.; Novelli, Antonio; Fusco, L.; Alesi, V. | |
| A Case of Patient with Rubinstein-Taybi Syndrome Type 2 with Complete Deletion of EP300 Gene and Complex Phenotype | 1-gen-2016 | Santoro, Elisa; Marini, Romana; Novelli, Antonio; Alesi, Viola; Dentici, Maria Lisa; Cappa, Marco | |
| A case report on filamin A gene mutation and progressive pulmonary disease in an infant A lung tissued derived mesenchymal stem cell study | 1-gen-2018 | Calcaterra, Valeria; Avanzini, Maria Antonietta; Mantelli, Melissa; Agolini, Emanuele; Croce, Stefania; De Silvestri, Annalisa; Re, Giuseppe; Collura, Mirella; Maltese, Alice; Novelli, Antonio; Pelizzo, Gloria | |
| 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 |