CARLI, Diana
CARLI, Diana
SCIENZE MEDICHE
'Knowing and Treating Kosaki/Penttinen syndrome' international collaborative consortium: recommendations for follow-up, natural history and a real-life observational study about safety and efficacy profile of tyrosine kinase inhibitors
2025-01-01 Bouhatous, Yordi-Michaël; Bredrup, Cecilie; Maurer, Agnes; Mirakovska, Liubinka; Foster, Alison; Kosaki, Kenjiro; Jost, Céline; Demoulin, Jean-Baptiste; Luu, Maxime; Vabres, Pierre; Kurtz, Jean-Emmanuel; Schaefer, Elise; Guimier, Anne; Cormier-Daire, Valerie; Lim, Derek; Thompson, Sarah; Olson, Lorin; Kwon, Hae Ryong; Aguirre-Rodriguez, Cristina; Hernandez-Dorronsoro, Unai; Martinez-Soroa, Itziar; Iznardo, Helena; Mascaró, José-Manuel; Baselga, Eulalia; Kalantari, Silvia; Mussa, Alessandro; Gazzin, Andrea; Carli, Diana; Svinvik, Ingrid; Mutlu-Albayrak, Hatice; Bluefeather, Sarah; Zarate, Yuri; Takenouchi, Toshiki; Naicker, Thirona; Chateau, Antoinette; Gokhul, Ashmika; Dube-Pule, Anele; Haniffa, Muzhirah; Ong Peitee, Winnie; Nordgren, Ann; Carpentier, Maud; Binquet, Christine; Briffaut, Anne-Sophie; Bal, Laurence; Pond, Dinel; Rustad, Cecilie F; Bardou, Marc; Faivre, Laurence
9p deletion syndrome-like in a girl with a 9p insertion on chromosome 2 without 9p deletion
2014-01-01 D. Carli; G. Mandrile; E. Savin; G. Rivalta; M. Rolando; D. F. Giachino; E. Di Gregorio; A. Brusco
A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities
2025-01-01 Carli, Diana; Quarello, Paola; Porta, Francesco; Cagnazzo, Celeste; Zucchetti, Giulia; Proto, Camilla Francesca; Gianasso, Rebecca; Biamino, Elisa; Carbonara, Caterina; Coscia, Alessandra; Parlato, Caterina; Fenoglio, Beatrice; Guarrera, Simonetta; Spada, Marco; Mussa, Alessandro; Minucci, Saverio; Fagioli, Franca
A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities
2025-01-01 Carli, Diana; Quarello, Paola; Porta, Francesco; Cagnazzo, Celeste; Zucchetti, Giulia; Proto, Camilla Francesca; Gianasso, Rebecca; Biamino, Elisa; Carbonara, Caterina; Coscia, Alessandra; Parlato, Caterina; Fenoglio, Beatrice; Guarrera, Simonetta; Spada, Marco; Mussa, Alessandro; Minucci, Saverio; Fagioli, Franca
A new case of Smith-Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth
2021-01-01 Carli D.; Ferrero G.B.; Fusillo A.; Coppo P.; La Selva R.; Zinali F.; Cardaropoli S.; Ranieri C.; Iacoviello M.; Resta N.; Mussa A.
A Systems Biology Approach for Prioritizing ASD Genes in Large or Noisy Datasets
2025-01-01 Remori, Veronica; Bondi, Heather; Airoldi, Manuel; Pavinato, Lisa; Borini, Giulia; Carli, Diana; Brusco, Alfredo; Fasano, Mauro
A three-generation family with terminal microdeletion involving 5p15.33-32 due to a whole-arm 5;15 chromosomal translocation with a steady phenotype of atypical cri du chat syndrome
2014-01-01 Elmakky A.; Carli D.; Lugli L.; Torelli P.; Guidi B.; Falcinelli C.; Fini S.; Ferrari F.; Percesepe A.
Adult phenotype of Beckwith-Wiedemann syndrome
2019-01-01 Carli, D; Gazzin, A; Molinatto, C; Sirchia, F; Cardaropoli, S; Mussa, A; Ferrero, GB
Advancing Neuropediatric Rare Disease Diagnosis Through Clinical Genome Sequencing
2026-01-01 Sirchia, Fabio; Kalantari, Silvia; Carli, Diana; Zadorozhna, Mariia; Bassanese, Francesco; Thorpe Venti, Erin; Taft, Ryan J; Kesari, Akanchha; Sorasio, Lorena; Antona, Vincenzo; Guala, Andrea; Feresin, Agnese; Basile, Anna; Licciardi, Francesco; Garau, Jessica; Gasparini, Paolo; Grosso, Enrico; Mussa, Alessandro; Ferrero, Giovanni Battista; Brusco, Alfredo; Giorgio, Elisa
Assisted reproduction techniques and prenatal diagnosis of Beckwith-Wiedemann spectrum presenting with omphalocele
2018-01-01 Mussa, Alessandro; Carli, Diana; Cardaropoli, Simona; Molinatto, Cristina; Ferrero, Giovanni Battista
Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome
2017-01-01 Mussa, Alessandro; Molinatto, Cristina; Cerrato, Flavia; Palumbo, Orazio; Carella, Massimo; Baldassarre, Giuseppina; Carli, Diana; Peris, Clementina; Riccio, Andrea; Ferrero, Giovanni Battista
Atypical microdeletion 22q11.2 in a patient with tetralogy of Fallot
2021-01-01 Carli, Diana; Moroni, Alice; Eleonora, Di Gregorio; Zonta, Andrea; Montin, Davide; Licciardi, Francesco; Aidala, Enrico; Bordese, Roberto; Carlo, Pace Napoleone; Brusco, Alfredo; Giovanni Battista, Ferrero; Mussa, Alessandro
Beckwith-Wiedemann spectrum (BWSp): an update on diagnosis, management, and follow-up from the scientific committee of the Italian BWSp association
2025-01-01 Russo, Silvia; Milani, Donatella; Meossi, Camilla; Marcucci, Lorenzo; Pajno, Roberta; Butti, Niccolò; Cocchi, Guido; Tannorella, Pierpaola; Bertoletti, Monica; Carli, Diana; Meazzini, Maria Costanza; Tortora, Chiara; Ferrari, Mario; Zampino, Giuseppe; Massuras, Stefania; Ferrero, Giovanni Battista; Quarello, Paola; Rossetti, Giulia; Montirosso, Rosario; De Pellegrin, Maurizio; Riccio, Andrea; Mussa, Alessandro
Beckwith-Wiedemann Syndrome Negligible Effects on Tumor Risk Associated with in Vitro Fertilization
2019-01-01 Carli D.; Ferrero G.B.; Mussa A.
BENTA disease or CARD11 gain-of-function? A novel variant with atypical features and a literature review
2025-01-01 Baldini, Letizia; Keller, Bärbel; Dewitte, Lisa; Passarelli, Chiara; Ginevrino, Monia; Carli, Diana; Montin, Davide; Bossuyt, Xavier; Warnatz, Klaus; Licciardi, Francesco
Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype
2024-01-01 Sarli, Camilla; van der Laan, Liselot; Reilly, Jack; Trajkova, Slavica; Carli, Diana; Brusco, Alfredo; Levy, Michael A; Relator, Raissa; Kerkhof, Jennifer; McConkey, Haley; Tedder, Matthew L; Skinner, Cindy; Alders, Mariëlle; Henneman, Peter; Hennekam, Raoul C M; Ciaccio, Claudia; D'Arrigo, Stefano; Vitobello, Antonio; Faivre, Laurence; Weber, Sacha; Vincent-Devulder, Aline; Perrin, Laurence; Bourgois, Alexia; Yamamoto, Toshiyuki; Metcalfe, Kay; Zollino, Marcella; Kini, Usha; Oliveira, Daniela; Sousa, Sergio B; Williams, Denise; Cappuccio, Gerarda; Sadikovic, Bekim; Brunetti-Pierri, Nicola
Bowel loop sign in a newborn
2021-01-01 Garofalo, Salvatore; Guanà, Riccardo; Schleef, Jurgen; Cortese, Maria Grazia; Carli, Diana; Suteu, Liana; Ferrero, Giovanni Battista; Gennari, Fabrizio
Brain Abnormalities in Patients with Germline Variants in H3F3: Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors
2022-01-01 Alves, C A P F; Sherbini, O; D'Arco, F; Steel, D; Kurian, M A; Radio, F C; Ferrero, G B; Carli, D; Tartaglia, M; Balci, T B; Powell-Hamilton, N N; Schrier Vergano, S A; Reutter, H; Hoefele, J; Günthner, R; Roeder, E R; Littlejohn, R O; Lessel, D; Lüttgen, S; Kentros, C; Anyane-Yeboa, K; Catarino, C B; Mercimek-Andrews, S; Denecke, J; Lyons, M J; Klopstock, T; Bhoj, E J; Bryant, L; Vanderver, A
BULLOUS PILOMATRIXOMA
2020-01-01 Garofalo S.; Guana R.; Scottoni F.; Cortese M.G.; Cerrina A.; Linari A.; Carli D.; Ferrero G.B.; Gennari F.
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD
2023-01-01 Pavinato, Lisa; Delle Vedove, Andrea; Carli, Diana; Ferrero, Marta; Carestiato, Silvia; Howe, Jennifer L; Agolini, Emanuele; Coviello, Domenico A; van de Laar, Ingrid; Au, Ping Yee Billie; Di Gregorio, Eleonora; Fabbiani, Alessandra; Croci, Susanna; Mencarelli, Maria Antonietta; Bruno, Lucia P; Renieri, Alessandra; Veltra, Danai; Sofocleous, Christalena; Faivre, Laurence; Mazel, Benoit; Safraou, Hana; Denommé-Pichon, Anne Sophie; van Slegtenhorst, Marjon A; Giesbertz, Noor; van Jaarsveld, Richard H; Childers, Anna; Rogers, R Curtis; Novelli, Antonio; De Rubeis, Silvia; Buxbaum, Joseph D; Scherer, Stephen W; Ferrero, Giovanni Battista; Wirth, Brunhilde; Brusco, Alfredo
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 'Knowing and Treating Kosaki/Penttinen syndrome' international collaborative consortium: recommendations for follow-up, natural history and a real-life observational study about safety and efficacy profile of tyrosine kinase inhibitors | 2025 | Bouhatous, Yordi-Michaël; Bredrup, Cecilie; Maurer, Agnes; Mirakovska, Liubinka; Foster, Alison; Kosaki, Kenjiro; Jost, Céline; Demoulin, Jean-Baptiste; Luu, Maxime; Vabres, Pierre; Kurtz, Jean-Emmanuel; Schaefer, Elise; Guimier, Anne; Cormier-Daire, Valerie; Lim, Derek; Thompson, Sarah; Olson, Lorin; Kwon, Hae Ryong; Aguirre-Rodriguez, Cristina; Hernandez-Dorronsoro, Unai; Martinez-Soroa, Itziar; Iznardo, Helena; Mascaró, José-Manuel; Baselga, Eulalia; Kalantari, Silvia; Mussa, Alessandro; Gazzin, Andrea; Carli, Diana; Svinvik, Ingrid; Mutlu-Albayrak, Hatice; Bluefeather, Sarah; Zarate, Yuri; Takenouchi, Toshiki; Naicker, Thirona; Chateau, Antoinette; Gokhul, Ashmika; Dube-Pule, Anele; Haniffa, Muzhirah; Ong Peitee, Winnie; Nordgren, Ann; Carpentier, Maud; Binquet, Christine; Briffaut, Anne-Sophie; Bal, Laurence; Pond, Dinel; Rustad, Cecilie F; Bardou, Marc; Faivre, Laurence | |
| 9p deletion syndrome-like in a girl with a 9p insertion on chromosome 2 without 9p deletion | 2014 | D. Carli; G. Mandrile; E. Savin; G. Rivalta; M. Rolando; D. F. Giachino; E. Di Gregorio; A. Brusco | |
| A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities | 2025 | Carli, Diana; Quarello, Paola; Porta, Francesco; Cagnazzo, Celeste; Zucchetti, Giulia; Proto, Camilla Francesca; Gianasso, Rebecca; Biamino, Elisa; Carbonara, Caterina; Coscia, Alessandra; Parlato, Caterina; Fenoglio, Beatrice; Guarrera, Simonetta; Spada, Marco; Mussa, Alessandro; Minucci, Saverio; Fagioli, Franca | |
| A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities | 2025 | Carli, Diana; Quarello, Paola; Porta, Francesco; Cagnazzo, Celeste; Zucchetti, Giulia; Proto, Camilla Francesca; Gianasso, Rebecca; Biamino, Elisa; Carbonara, Caterina; Coscia, Alessandra; Parlato, Caterina; Fenoglio, Beatrice; Guarrera, Simonetta; Spada, Marco; Mussa, Alessandro; Minucci, Saverio; Fagioli, Franca | |
| A new case of Smith-Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth | 2021 | Carli D.; Ferrero G.B.; Fusillo A.; Coppo P.; La Selva R.; Zinali F.; Cardaropoli S.; Ranieri C.; Iacoviello M.; Resta N.; Mussa A. | |
| A Systems Biology Approach for Prioritizing ASD Genes in Large or Noisy Datasets | 2025 | Remori, Veronica; Bondi, Heather; Airoldi, Manuel; Pavinato, Lisa; Borini, Giulia; Carli, Diana; Brusco, Alfredo; Fasano, Mauro | |
| A three-generation family with terminal microdeletion involving 5p15.33-32 due to a whole-arm 5;15 chromosomal translocation with a steady phenotype of atypical cri du chat syndrome | 2014 | Elmakky A.; Carli D.; Lugli L.; Torelli P.; Guidi B.; Falcinelli C.; Fini S.; Ferrari F.; Percesepe A. | |
| Adult phenotype of Beckwith-Wiedemann syndrome | 2019 | Carli, D; Gazzin, A; Molinatto, C; Sirchia, F; Cardaropoli, S; Mussa, A; Ferrero, GB | |
| Advancing Neuropediatric Rare Disease Diagnosis Through Clinical Genome Sequencing | 2026 | Sirchia, Fabio; Kalantari, Silvia; Carli, Diana; Zadorozhna, Mariia; Bassanese, Francesco; Thorpe Venti, Erin; Taft, Ryan J; Kesari, Akanchha; Sorasio, Lorena; Antona, Vincenzo; Guala, Andrea; Feresin, Agnese; Basile, Anna; Licciardi, Francesco; Garau, Jessica; Gasparini, Paolo; Grosso, Enrico; Mussa, Alessandro; Ferrero, Giovanni Battista; Brusco, Alfredo; Giorgio, Elisa | |
| Assisted reproduction techniques and prenatal diagnosis of Beckwith-Wiedemann spectrum presenting with omphalocele | 2018 | Mussa, Alessandro; Carli, Diana; Cardaropoli, Simona; Molinatto, Cristina; Ferrero, Giovanni Battista | |
| Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome | 2017 | Mussa, Alessandro; Molinatto, Cristina; Cerrato, Flavia; Palumbo, Orazio; Carella, Massimo; Baldassarre, Giuseppina; Carli, Diana; Peris, Clementina; Riccio, Andrea; Ferrero, Giovanni Battista | |
| Atypical microdeletion 22q11.2 in a patient with tetralogy of Fallot | 2021 | Carli, Diana; Moroni, Alice; Eleonora, Di Gregorio; Zonta, Andrea; Montin, Davide; Licciardi, Francesco; Aidala, Enrico; Bordese, Roberto; Carlo, Pace Napoleone; Brusco, Alfredo; Giovanni Battista, Ferrero; Mussa, Alessandro | |
| Beckwith-Wiedemann spectrum (BWSp): an update on diagnosis, management, and follow-up from the scientific committee of the Italian BWSp association | 2025 | Russo, Silvia; Milani, Donatella; Meossi, Camilla; Marcucci, Lorenzo; Pajno, Roberta; Butti, Niccolò; Cocchi, Guido; Tannorella, Pierpaola; Bertoletti, Monica; Carli, Diana; Meazzini, Maria Costanza; Tortora, Chiara; Ferrari, Mario; Zampino, Giuseppe; Massuras, Stefania; Ferrero, Giovanni Battista; Quarello, Paola; Rossetti, Giulia; Montirosso, Rosario; De Pellegrin, Maurizio; Riccio, Andrea; Mussa, Alessandro | |
| Beckwith-Wiedemann Syndrome Negligible Effects on Tumor Risk Associated with in Vitro Fertilization | 2019 | Carli D.; Ferrero G.B.; Mussa A. | |
| BENTA disease or CARD11 gain-of-function? A novel variant with atypical features and a literature review | 2025 | Baldini, Letizia; Keller, Bärbel; Dewitte, Lisa; Passarelli, Chiara; Ginevrino, Monia; Carli, Diana; Montin, Davide; Bossuyt, Xavier; Warnatz, Klaus; Licciardi, Francesco | |
| Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype | 2024 | Sarli, Camilla; van der Laan, Liselot; Reilly, Jack; Trajkova, Slavica; Carli, Diana; Brusco, Alfredo; Levy, Michael A; Relator, Raissa; Kerkhof, Jennifer; McConkey, Haley; Tedder, Matthew L; Skinner, Cindy; Alders, Mariëlle; Henneman, Peter; Hennekam, Raoul C M; Ciaccio, Claudia; D'Arrigo, Stefano; Vitobello, Antonio; Faivre, Laurence; Weber, Sacha; Vincent-Devulder, Aline; Perrin, Laurence; Bourgois, Alexia; Yamamoto, Toshiyuki; Metcalfe, Kay; Zollino, Marcella; Kini, Usha; Oliveira, Daniela; Sousa, Sergio B; Williams, Denise; Cappuccio, Gerarda; Sadikovic, Bekim; Brunetti-Pierri, Nicola | |
| Bowel loop sign in a newborn | 2021 | Garofalo, Salvatore; Guanà, Riccardo; Schleef, Jurgen; Cortese, Maria Grazia; Carli, Diana; Suteu, Liana; Ferrero, Giovanni Battista; Gennari, Fabrizio | |
| Brain Abnormalities in Patients with Germline Variants in H3F3: Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors | 2022 | Alves, C A P F; Sherbini, O; D'Arco, F; Steel, D; Kurian, M A; Radio, F C; Ferrero, G B; Carli, D; Tartaglia, M; Balci, T B; Powell-Hamilton, N N; Schrier Vergano, S A; Reutter, H; Hoefele, J; Günthner, R; Roeder, E R; Littlejohn, R O; Lessel, D; Lüttgen, S; Kentros, C; Anyane-Yeboa, K; Catarino, C B; Mercimek-Andrews, S; Denecke, J; Lyons, M J; Klopstock, T; Bhoj, E J; Bryant, L; Vanderver, A | |
| BULLOUS PILOMATRIXOMA | 2020 | Garofalo S.; Guana R.; Scottoni F.; Cortese M.G.; Cerrina A.; Linari A.; Carli D.; Ferrero G.B.; Gennari F. | |
| CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD | 2023 | Pavinato, Lisa; Delle Vedove, Andrea; Carli, Diana; Ferrero, Marta; Carestiato, Silvia; Howe, Jennifer L; Agolini, Emanuele; Coviello, Domenico A; van de Laar, Ingrid; Au, Ping Yee Billie; Di Gregorio, Eleonora; Fabbiani, Alessandra; Croci, Susanna; Mencarelli, Maria Antonietta; Bruno, Lucia P; Renieri, Alessandra; Veltra, Danai; Sofocleous, Christalena; Faivre, Laurence; Mazel, Benoit; Safraou, Hana; Denommé-Pichon, Anne Sophie; van Slegtenhorst, Marjon A; Giesbertz, Noor; van Jaarsveld, Richard H; Childers, Anna; Rogers, R Curtis; Novelli, Antonio; De Rubeis, Silvia; Buxbaum, Joseph D; Scherer, Stephen W; Ferrero, Giovanni Battista; Wirth, Brunhilde; Brusco, Alfredo |