CARLI, Diana
CARLI, Diana
SCIENZE MEDICHE
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
Adult phenotype of Beckwith-Wiedemann syndrome
2019-01-01 Carli, D; Gazzin, A; Molinatto, C; Sirchia, F; Cardaropoli, S; Mussa, A; Ferrero, GB
Family-based whole exome sequencing allows a 25% diagnostic yield in patients with autism spectrum disorder
2020-01-01 D Carli, E Giorgio, L Pavinato, E Riberi, P Dimartino, A Bruselles, S Cardaropoli, A Mussa, A Pelle, G Mandrile, V Antona, L Sorasio, E Biamino, EF Belligni, V Rizzo, F Sirchia, I Bagnasco, G Zacchetti, VG Naretto, G Gai, A Zonta, E Grosso, C Davico, R Keller, T Pippucci, M Tartaglia, S De Rubeis, A Brusco, GB Ferrero
Loss-of-function variants in CAPRIN1 in patients affected by autism spectrum disorder, language delay and intellectual disability with variable expressivity and incomplete penetrance
2020-01-01 Pavinato, L; Howe, JL; Carli, D; Agolini, E; Coviello, DA; Van de Laar, IMBH; Au, PYB; Di Gregorio, E; Giorgio, E; Pozzi, E; Ferrero, M; Cardaropoli, S; Delle Vedove, A; Salpietro, V; Zara, F; Novelli, A; Wirth, B; Ferrero, GB; Scherer, SW; Brusco, A
Phenotype evolution and health issues of adult patients affected by Beckwith-Wiedemann Syndrome
2018-01-01 gazzin andrea, carli diana, molinatto cristina, cardaropoli simona, mussa alessandro, ferrero giovanni battista
Prenatal phenotype in Beckwith-Wiedemann spectrum
2020-01-01 Carli, D; Bertola, C; Cardaropoli, S; Ciuffreda, VP; Pieretto, M; Ferrero, GB; Mussa, A
SETBP1 gene variants: from Schinzel-Giedion syndrome to mild neurodevelopmental disorder, a challenge for the clinician
2020-01-01 Moroni A, Carli D, Giorgio E, Sirchia F, Pavinato L, Cardaropoli S, Di Martino P, Mussa A, Pipucci T, De Rubeis S, Brusco A
Two de novo and one familiar cases of TLK2-associated intellectual disability confirm disease variable expressivity
2019-01-01 Pavinato, L; Giorgio, E; Antona, V; Carli, D; Ranguin, K; Colson, C; De Rubeis, S; Pippucci, T; Dimartino, P; Scaramuzzino, M; Cardaropoli, S; Ciolfi, A; Radio, C; Buxbaum, J; Tartaglia, M; Brusco, A
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 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 | |
| Adult phenotype of Beckwith-Wiedemann syndrome | 2019 | Carli, D; Gazzin, A; Molinatto, C; Sirchia, F; Cardaropoli, S; Mussa, A; Ferrero, GB | |
| Family-based whole exome sequencing allows a 25% diagnostic yield in patients with autism spectrum disorder | 2020 | D Carli, E Giorgio, L Pavinato, E Riberi, P Dimartino, A Bruselles, S Cardaropoli, A Mussa, A Pelle, G Mandrile, V Antona, L Sorasio, E Biamino, EF Belligni, V Rizzo, F Sirchia, I Bagnasco, G Zacchetti, VG Naretto, G Gai, A Zonta, E Grosso, C Davico, R Keller, T Pippucci, M Tartaglia, S De Rubeis, A Brusco, GB Ferrero | |
| Loss-of-function variants in CAPRIN1 in patients affected by autism spectrum disorder, language delay and intellectual disability with variable expressivity and incomplete penetrance | 2020 | Pavinato, L; Howe, JL; Carli, D; Agolini, E; Coviello, DA; Van de Laar, IMBH; Au, PYB; Di Gregorio, E; Giorgio, E; Pozzi, E; Ferrero, M; Cardaropoli, S; Delle Vedove, A; Salpietro, V; Zara, F; Novelli, A; Wirth, B; Ferrero, GB; Scherer, SW; Brusco, A | |
| Phenotype evolution and health issues of adult patients affected by Beckwith-Wiedemann Syndrome | 2018 | gazzin andrea, carli diana, molinatto cristina, cardaropoli simona, mussa alessandro, ferrero giovanni battista | |
| Prenatal phenotype in Beckwith-Wiedemann spectrum | 2020 | Carli, D; Bertola, C; Cardaropoli, S; Ciuffreda, VP; Pieretto, M; Ferrero, GB; Mussa, A | |
| SETBP1 gene variants: from Schinzel-Giedion syndrome to mild neurodevelopmental disorder, a challenge for the clinician | 2020 | Moroni A, Carli D, Giorgio E, Sirchia F, Pavinato L, Cardaropoli S, Di Martino P, Mussa A, Pipucci T, De Rubeis S, Brusco A | |
| Two de novo and one familiar cases of TLK2-associated intellectual disability confirm disease variable expressivity | 2019 | Pavinato, L; Giorgio, E; Antona, V; Carli, D; Ranguin, K; Colson, C; De Rubeis, S; Pippucci, T; Dimartino, P; Scaramuzzino, M; Cardaropoli, S; Ciolfi, A; Radio, C; Buxbaum, J; Tartaglia, M; Brusco, A |