NOVELLI, Antonio
NOVELLI, Antonio
A Complex Genomic Rearrangement Resulting in Loss of Function of SCN1A and SCN2A in a Patient with Severe Developmental and Epileptic Encephalopathy
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 LYMPHOTACTIN-PRODUCING MONOCLONAL T-CELL LYMPHOPROLIFERATIVE DISORDER WITH EXTREME LYMPHOCYTOPENIA AND PROGRESSIVE LEUKOENCEPHALOPATHY
2006 Visentini, Marcella; Carbonari, Maurizio; Ghia, E; DE PROPRIIS, S; Guarini, Anna; Girmenia, C; Giannini, Giuseppe; Sabattini, E; Ceccarini, C; Zamarchi, R; Giangaspero, Felice; Novelli, Antonio; Amadori, A; Pileri, Sa; Fiorilli, Massimo
Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome
2023 Piceci-Sparascio, Francesca; Micale, Lucia; Torres, Barbara; Guida, Valentina; Consoli, Federica; Torrente, Isabella; Onori, Annamaria; Frustaci, Emanuela; D'Asdia, Maria Cecilia; Petrizzelli, Francesco; Bernardini, Laura; Mancini, Cecilia; Soli, Fiorenza; Cocciadiferro, Dario; Guadagnolo, Daniele; Mastromoro, Gioia; Putotto, Carolina; Fontana, Franco; Brunetti-Pierri, Nicola; Novelli, Antonio; Pizzuti, Antonio; Marino, Bruno; Digilio, Maria Cristina; Mazza, Tommaso; Dallapiccola, Bruno; Ruiz-Perez, Victor Luis; Tartaglia, Marco; Castori, Marco; De Luca, Alessandro
Congenital heart defects in molecularly confirmed KBG syndrome patients
2021 Digilio, M. C.; Calcagni, G.; Gnazzo, M.; Versacci, P.; Dentici, M. L.; Capolino, R.; Sinibaldi, L.; Baban, A.; Putotto, C.; Alfieri, P.; Unolt, M.; Lepri, F. R.; Alesi, V.; Genovese, S.; Novelli, A.; Marino, B.; Dallapiccola, B.
Congenital heart defects in the recurrent 2q13 deletion syndrome
2022 Digilio, M. C.; Dentici, M. L.; Loddo, S.; Laino, L.; Calcagni, G.; Genovese, S.; Capolino, R.; Bottillo, I.; Calvieri, G.; Dallapiccola, B.; Marino, B.; Novelli, A.; Versacci, P.
Defining the phenotype of FHF1 developmental and epileptic encephalopathy
2020 Trivisano, Marina; Ferretti, Alessandro; Bebin, Elizabeth; Huh, Linda; Lesca, Gaetan; Siekierska, Aleksandra; Takeguchi, Ryo; Carneiro, Maryline; De Palma, Luca; Guella, Ilaria; Haginoya, Kazuhiro; Shi, Ruo Ming; Kikuchi, Atsuo; Kobayashi, Tomoko; Jung, Julien; Lagae, Lieven; Milh, Mathieu; Mathieu, Marie L; Minassian, Berge A; Novelli, Antonio; Pietrafusa, Nicola; Takeshita, Eri; Tartaglia, Marco; Terracciano, Alessandra; Thompson, Michelle L; Cooper, Gregory M; Vigevano, Federico; Villard, Laurent; Villeneuve, Nathalie; Buyse, Gunnar M; Demos, Michelle; Scheffer, Ingrid E; Specchio, Nicola
Fetal First-trimester Cystic Hygroma as the Prenatal Presenting Feature of ASCC1-Related Spinal Muscular Atrophy with Bone Fractures 2
2023 Guadagnolo, Daniele; Mastromoro, Gioia; Hashemian, Nader Khaleghi; Orlando, Valeria; Lepri, Francesca Romana; D'Alberti, Elena; Giancotti, Antonella; Novelli, Antonio; Pizzuti, Antonio
FOXP1-related intellectual disability syndrome: a recognisable entity
2017 Meerschaut, Ilse; Rochefort, Daniel; Revençu, Nicole; Pètre, Justine; Corsello, Christina; Rouleau, Guy A; Hamdan, Fadi F; Michaud, Jacques L; Morton, Jenny; Radley, Jessica; Ragge, Nicola; García-Miñaúr, Sixto; Lapunzina, Pablo; Bralo, Maria Palomares; Mori, Maria Ángeles; Moortgat, Stéphanie; Benoit, Valérie; Mary, Sandrine; Bockaert, Nele; Oostra, Ann; Vanakker, Olivier; Velinov, Milen; de Ravel, Thomy Jl; Mekahli, Djalila; Sebat, Jonathan; Vaux, Keith K; Didonato, Nataliya; Hanson-Kahn, Andrea K; Hudgins, Louanne; Dallapiccola, Bruno; Novelli, Antonio; Tarani, Luigi; Andrieux, Joris; Parker, Michael J; Neas, Katherine; Ceulemans, Berten; Schoonjans, An-Sofie; Prchalova, Darina; Havlovicova, Marketa; Hancarova, Miroslava; Budisteanu, Magdalena; Dheedene, Annelies; Menten, Björn; Dion, Patrick A; Lederer, Damien; Callewaert, Bert
Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 Variants
2022 Ferilli, Marco; Ciolfi, Andrea; Pedace, Lucia; Niceta, Marcello; Radio, Francesca Clementina; Pizzi, Simone; Miele, Evelina; Cappelletti, Camilla; Mancini, Cecilia; Galluccio, Tiziana; Andreani, Marco; Iascone, Maria; Chiriatti, Luigi; Novelli, Antonio; Micalizzi, Alessia; Matraxia, Marta; Menale, Lucia; Faletra, Flavio; Prontera, Paolo; Pilotta, Alba; Bedeschi, Maria Francesca; Capolino, Rossella; Baban, Anwar; Seri, Marco; Mammì, Corrado; Zampino, Giuseppe; Digilio, Maria Cristina; Dallapiccola, Bruno; Priolo, Manuela; Tartaglia, Marco
GRIA3 missense mutation is cause of an x-linked developmental and epileptic encephalopathy
2020 Trivisano, Marina; Santarone, Marta Elena; Micalizzi, Alessia; Ferretti, Alessandro; Dentici, Maria Lisa; Novelli, Antonio; Vigevano, Federico; Specchio, Nicola
Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvement
2018 Pascolini, Giulia; Agolini, Emanuele; Majore, Silvia; Novelli, Antonio; Grammatico, Paola; Digilio, Maria Cristina
Left ventricular non compaction with aortic valve anomalies: A recurrent feature of 22q11.2 distal deletion syndrome
2015 Digilio, M. Cristina; Versacci, Paolo; Bernardini, Laura; Novelli, Antonio; MARINO TAUSSIG DE BODONIA, Bruno; Dallapiccola, Bruno
MED13 mutation. A novel cause of developmental and epileptic encephalopathy with infantile spasms
2022 Trivisano, Marina; De Dominicis, Angela; Micalizzi, Alessia; Ferretti, Alessandro; Dentici, Maria Lisa; Terracciano, Alessandra; Calabrese, Costanza; Vigevano, Federico; Novelli, Giuseppe; Novelli, Antonio; Specchio, Nicola
Microcephalic osteodysplastic primordial dwarfism type II and pachygyria: Morphometric analysis in a 2-year-old girl
2020 Rossi-Espagnet, M. C.; Dentici, M. L.; Pasquini, L.; Carducci, C.; Lucignani, M.; Longo, D.; Agolini, E.; Novelli, A.; Gonfiantini, M. V.; Digilio, M. C.; Napolitano, A.; Bartuli, A.
Prenatal CFAP53-related laterality defect: case report and review of the literature
2023 Mastromoro, Gioia; Guadagnolo, Daniele; Novelli, Antonio; Torres, Barbara; Piane, Maria; Magliozzi, Monia; Bernardini, Laura; Ventriglia, Flavia; Pizzuti, Antonio; Petrucci, Simona
Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1
2017 Travaglini, Lorena; Aiello, Chiara; Alesi, Viola; Loddo, Sara; Novelli, Antonio; Tozzi, Giulia; Bertini, Enrico; Leuzzi, Vincenzo; Brancati, Francesco
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A Complex Genomic Rearrangement Resulting in Loss of Function of SCN1A and SCN2A in a Patient with Severe Developmental and Epileptic Encephalopathy | 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 LYMPHOTACTIN-PRODUCING MONOCLONAL T-CELL LYMPHOPROLIFERATIVE DISORDER WITH EXTREME LYMPHOCYTOPENIA AND PROGRESSIVE LEUKOENCEPHALOPATHY | 2006 | Visentini, Marcella; Carbonari, Maurizio; Ghia, E; DE PROPRIIS, S; Guarini, Anna; Girmenia, C; Giannini, Giuseppe; Sabattini, E; Ceccarini, C; Zamarchi, R; Giangaspero, Felice; Novelli, Antonio; Amadori, A; Pileri, Sa; Fiorilli, Massimo | |
| Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome | 2023 | Piceci-Sparascio, Francesca; Micale, Lucia; Torres, Barbara; Guida, Valentina; Consoli, Federica; Torrente, Isabella; Onori, Annamaria; Frustaci, Emanuela; D'Asdia, Maria Cecilia; Petrizzelli, Francesco; Bernardini, Laura; Mancini, Cecilia; Soli, Fiorenza; Cocciadiferro, Dario; Guadagnolo, Daniele; Mastromoro, Gioia; Putotto, Carolina; Fontana, Franco; Brunetti-Pierri, Nicola; Novelli, Antonio; Pizzuti, Antonio; Marino, Bruno; Digilio, Maria Cristina; Mazza, Tommaso; Dallapiccola, Bruno; Ruiz-Perez, Victor Luis; Tartaglia, Marco; Castori, Marco; De Luca, Alessandro | |
| Congenital heart defects in molecularly confirmed KBG syndrome patients | 2021 | Digilio, M. C.; Calcagni, G.; Gnazzo, M.; Versacci, P.; Dentici, M. L.; Capolino, R.; Sinibaldi, L.; Baban, A.; Putotto, C.; Alfieri, P.; Unolt, M.; Lepri, F. R.; Alesi, V.; Genovese, S.; Novelli, A.; Marino, B.; Dallapiccola, B. | |
| Congenital heart defects in the recurrent 2q13 deletion syndrome | 2022 | Digilio, M. C.; Dentici, M. L.; Loddo, S.; Laino, L.; Calcagni, G.; Genovese, S.; Capolino, R.; Bottillo, I.; Calvieri, G.; Dallapiccola, B.; Marino, B.; Novelli, A.; Versacci, P. | |
| Defining the phenotype of FHF1 developmental and epileptic encephalopathy | 2020 | Trivisano, Marina; Ferretti, Alessandro; Bebin, Elizabeth; Huh, Linda; Lesca, Gaetan; Siekierska, Aleksandra; Takeguchi, Ryo; Carneiro, Maryline; De Palma, Luca; Guella, Ilaria; Haginoya, Kazuhiro; Shi, Ruo Ming; Kikuchi, Atsuo; Kobayashi, Tomoko; Jung, Julien; Lagae, Lieven; Milh, Mathieu; Mathieu, Marie L; Minassian, Berge A; Novelli, Antonio; Pietrafusa, Nicola; Takeshita, Eri; Tartaglia, Marco; Terracciano, Alessandra; Thompson, Michelle L; Cooper, Gregory M; Vigevano, Federico; Villard, Laurent; Villeneuve, Nathalie; Buyse, Gunnar M; Demos, Michelle; Scheffer, Ingrid E; Specchio, Nicola | |
| Fetal First-trimester Cystic Hygroma as the Prenatal Presenting Feature of ASCC1-Related Spinal Muscular Atrophy with Bone Fractures 2 | 2023 | Guadagnolo, Daniele; Mastromoro, Gioia; Hashemian, Nader Khaleghi; Orlando, Valeria; Lepri, Francesca Romana; D'Alberti, Elena; Giancotti, Antonella; Novelli, Antonio; Pizzuti, Antonio | |
| FOXP1-related intellectual disability syndrome: a recognisable entity | 2017 | Meerschaut, Ilse; Rochefort, Daniel; Revençu, Nicole; Pètre, Justine; Corsello, Christina; Rouleau, Guy A; Hamdan, Fadi F; Michaud, Jacques L; Morton, Jenny; Radley, Jessica; Ragge, Nicola; García-Miñaúr, Sixto; Lapunzina, Pablo; Bralo, Maria Palomares; Mori, Maria Ángeles; Moortgat, Stéphanie; Benoit, Valérie; Mary, Sandrine; Bockaert, Nele; Oostra, Ann; Vanakker, Olivier; Velinov, Milen; de Ravel, Thomy Jl; Mekahli, Djalila; Sebat, Jonathan; Vaux, Keith K; Didonato, Nataliya; Hanson-Kahn, Andrea K; Hudgins, Louanne; Dallapiccola, Bruno; Novelli, Antonio; Tarani, Luigi; Andrieux, Joris; Parker, Michael J; Neas, Katherine; Ceulemans, Berten; Schoonjans, An-Sofie; Prchalova, Darina; Havlovicova, Marketa; Hancarova, Miroslava; Budisteanu, Magdalena; Dheedene, Annelies; Menten, Björn; Dion, Patrick A; Lederer, Damien; Callewaert, Bert | |
| Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 Variants | 2022 | Ferilli, Marco; Ciolfi, Andrea; Pedace, Lucia; Niceta, Marcello; Radio, Francesca Clementina; Pizzi, Simone; Miele, Evelina; Cappelletti, Camilla; Mancini, Cecilia; Galluccio, Tiziana; Andreani, Marco; Iascone, Maria; Chiriatti, Luigi; Novelli, Antonio; Micalizzi, Alessia; Matraxia, Marta; Menale, Lucia; Faletra, Flavio; Prontera, Paolo; Pilotta, Alba; Bedeschi, Maria Francesca; Capolino, Rossella; Baban, Anwar; Seri, Marco; Mammì, Corrado; Zampino, Giuseppe; Digilio, Maria Cristina; Dallapiccola, Bruno; Priolo, Manuela; Tartaglia, Marco | |
| GRIA3 missense mutation is cause of an x-linked developmental and epileptic encephalopathy | 2020 | Trivisano, Marina; Santarone, Marta Elena; Micalizzi, Alessia; Ferretti, Alessandro; Dentici, Maria Lisa; Novelli, Antonio; Vigevano, Federico; Specchio, Nicola | |
| Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvement | 2018 | Pascolini, Giulia; Agolini, Emanuele; Majore, Silvia; Novelli, Antonio; Grammatico, Paola; Digilio, Maria Cristina | |
| Left ventricular non compaction with aortic valve anomalies: A recurrent feature of 22q11.2 distal deletion syndrome | 2015 | Digilio, M. Cristina; Versacci, Paolo; Bernardini, Laura; Novelli, Antonio; MARINO TAUSSIG DE BODONIA, Bruno; Dallapiccola, Bruno | |
| MED13 mutation. A novel cause of developmental and epileptic encephalopathy with infantile spasms | 2022 | Trivisano, Marina; De Dominicis, Angela; Micalizzi, Alessia; Ferretti, Alessandro; Dentici, Maria Lisa; Terracciano, Alessandra; Calabrese, Costanza; Vigevano, Federico; Novelli, Giuseppe; Novelli, Antonio; Specchio, Nicola | |
| Microcephalic osteodysplastic primordial dwarfism type II and pachygyria: Morphometric analysis in a 2-year-old girl | 2020 | Rossi-Espagnet, M. C.; Dentici, M. L.; Pasquini, L.; Carducci, C.; Lucignani, M.; Longo, D.; Agolini, E.; Novelli, A.; Gonfiantini, M. V.; Digilio, M. C.; Napolitano, A.; Bartuli, A. | |
| Prenatal CFAP53-related laterality defect: case report and review of the literature | 2023 | Mastromoro, Gioia; Guadagnolo, Daniele; Novelli, Antonio; Torres, Barbara; Piane, Maria; Magliozzi, Monia; Bernardini, Laura; Ventriglia, Flavia; Pizzuti, Antonio; Petrucci, Simona | |
| Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1 | 2017 | Travaglini, Lorena; Aiello, Chiara; Alesi, Viola; Loddo, Sara; Novelli, Antonio; Tozzi, Giulia; Bertini, Enrico; Leuzzi, Vincenzo; Brancati, Francesco |