CARLI, Diana

CARLI, Diana  

SCIENZE MEDICHE  

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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 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 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
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 Syndrome Negligible Effects on Tumor Risk Associated with in Vitro Fertilization 2019 Carli D.; Ferrero G.B.; Mussa A.
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
Cerebral Metastases from Adrenocortical Carcinoma in Children: a Case Report and Literature Review 2023 Pilloni, Giulia; Peretta, Paola; Carli, Diana; Campello, Anna; Bertero, Luca; Maletta, Francesca; Vallero, Stefano Gabriele; Ragazzi, Paola
Chronic subdural hematoma: A previously unreported life-threatening complication in adult with Sotos syndrome 2020 Carli D.; Gazzin A.; Bongioanni M.R.; Bergui M.; Mussa A.; Ferrero G.B.
Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques 2022 Carli, Diana; Operti, Matteo; Russo, Silvia; Cocchi, Guido; Milani, Donatella; Leoni, Chiara; Prada, Elisabetta; Melis, Daniela; Falco, Mariateresa; Spina, Jennifer; Uliana, Vera; Sara, Osimani; Sirchia, Fabio; Tarani, Luigi; Macchiaiolo, Marina; Cerrato, Flavia; Sparago, Angela; Pignata, Laura; Tannorella, Pierpaola; Cardaropoli, Simona; Bartuli, Andrea; Riccio, Andrea; Ferrero, Giovanni Battista; Mussa, Alessandro
Clinical spectrum and follow-up in six individuals with Lamb-Shaffer syndrome (SOX5) 2021 Innella, Giovanni; Greco, Donatella; Carli, Diana; Magini, Pamela; Giorgio, Elisa; Galesi, Ornella; Ferrero, Giovanni Battista; Romano, Corrado; Brusco, Alfredo; Graziano, Claudio
Comparison of Quantitative Analysis of Methylated Alleles Real-Time PCR and Methylation-Specific MLPA for Molecular Diagnosis of Beckwith-Wiedemann Syndrome. 2019 Bergallo M, Galliano I, Montanari P, Calvi C, Daprà V, Carli D, Russo S, Mussa A, Ferrero GB
Constitutional bone impairment in Noonan syndrome 2017 Baldassarre, Giuseppina; Mussa, Alessandro; Carli, Diana; Molinatto, Cristina; Ferrero, Giovanni Battista
Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes 2017 DI GREGORIO, Eleonora; Riberi, Evelise; Belligni, ELGA FABIA; Biamino, Elisa; Spielmann, Malte; Ala, Ugo; Calcia, Alessandro; Bagnasco, Irene; Carli, Diana; Gai, Giorgia; Giordano, Mara; Guala, Andrea; Keller, Roberto; Mandrile, Giorgia; Arduino, Carlo; Maffè, Antonella; Naretto, VALERIA GIORGIA; Sirchia, Fabio; Sorasio, Lorena; Ungari, Silvana; Zonta, Andrea; Zacchetti, Giulia; Talarico, Flavia; Pappi, Patrizia; Cavalieri, Simona; Giorgio, Elisa; Mancini, Cecilia; Ferrero, Marta; Brussino, Alessandro; Savin, Elisa; Gandione, Marina; Pelle, Alessandra; Giachino, Daniela Francesca; DE MARCHI, Mario; Restagno, Gabriella; Provero, Paolo; Silengo, Margherita Cirillo; Grosso, Enrico; Buxbaum, Joseph D; Pasini, Barbara; De Rubeis, Silvia; Brusco, Alfredo; Ferrero, Giovanni Battista
Correspondence on “Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities,” by Carmignac et al 2021 Resta N.; Calabrese O.; Grossi V.; Lugli L.; Simone C.; Ranieri C.; Piglionica M.; Lepore Signorile M.; Rossi K.; Carli D.; Mussa A.