ANTONA, Vincenzo
ANTONA, Vincenzo
A complex epileptic and dysmorphic phenotype associated with a novel frameshift KDM5B variant and deletion of SCN gene cluster
2022-04-01 Mangano GD; Antona V; Calì E; Fontana A; Salpietro V; Houlden H; Veggiotti P; Nardello R
A novel cct5 missense variant associated with early onset motor neuropathy
2020-10-01 Antona V.; Scalia F.; Giorgio E.; Radio F.C.; Brusco A.; Oliveri M.; Corsello G.; Lo Celso F.; Vadala M.; de Macario E.C.; Macario A.J.L.; Cappello F.; Giuffre M.
A novel mutation of WDR62 gene associated with severe phenotype including infantile spasm, microcephaly, and intellectual disability.
2018-01-01 Nardello R, Fontana A, Antona V, Beninati A, Mangano GD, Stallone MC, Mangano S
A novel NF1 mutation in a pediatric patient with renal artery aneurysm
2022-11-21 Chillura, Ilenia; Restivo, Giulia Angela; Callari, Simonetta; Cibella, Sabrina; D'Alessandro, Maria Michela; Corrado, Ciro; Vallone, Mario; Antona, Vincenzo; Corsello, Giovanni
A paradigmatic autistic phenotype associated with loss of PCDH11Y and NLGN4Y genes
2021-01-01 Nardello R.; Antona V.; Mangano G.D.; Salpietro V.; Mangano S.; Fontana A.
Array CGH identifies a 823 kb Microduplication at 22q 11.22 encompassing the Rab36 gene in a Child with Autism Spectrum Disorder and Mild Dysmorphism
2012-01-01 Piccione, M.; Antona, V.; Piro, E.; Vecchio, D.; Salzano, E.; Corsello, G.
Autosomal recessive polycystic kidney disease: case report of a newborn with rare PKHD1 mutation, rapid renal enlargement and early fatal outcome
2020-01-01 Serra G.; Corsello G.; Antona V.; D'Alessandro M.M.; Cassata N.; Cimador M.; Giuffre M.; Schierz I.A.M.; Piro E.
Carnitine palmitoyltransferase II (CPT II) deficiency responsible for refractory cardiac arrhythmias, acute multiorgan failure and early fatal outcome
2024-04-14 Serra, Gregorio; Antona, Vincenzo; Insinga, Vincenzo; Morgante, Giusy; Vassallo, Alessia; Placa, Simona La; Piro, Ettore; Salerno, Sergio; Schierz, Ingrid Anne Mandy; Gitto, Eloisa; Giuffre, Mario; Corsello, Giovanni
Clinical and genetic approach in the characterization of newborns with anorectal malformation
2022-12-01 Schierz I.A.M.; Piro E.; Giuffre M.; Pinello G.; Angelini A.; Antona V.; Cimador M.; Corsello G.
Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1
2018-01-01 Giovanni Corsello, Vincenzo Antona, Gregorio Serra, Federico Zara, Clara Giambrone, Luca Lagalla, Maria Piccione, Ettore Piro
Commonalities and distinctions between two neurodevelopmental disorder subtypes associated with SCN2A and SCN8A variants and literature review
2022-01-01 Mangano G.D.; Fontana A.; Antona V.; Salpietro V.; Mangano G.R.; Giuffre M.; Nardello R.
Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome
2022-09-08 Serra, Gregorio; Giambrone, Clara; Antona, Vincenzo; Cardella, Francesca; Carta, Maurizio; Cimador, Marcello; Corsello, Giovanni; Giuffre, Mario; Insinga, Vincenzo; Maggio, Maria Cristina; Pensabene, Marco; Schierz, Ingrid Anne Mandy; Piro, Ettore
Distal Arthrogryposis type 5 in an Italian family due to an autosomal dominant gain-of-function mutation of the PIEZO2 gene
2022-07-29 Serra, Gregorio; Antona, Vincenzo; Cannata, Chiara; Giuffre, Mario; Piro, Ettore; Schierz, Ingrid Anne Mandy; Corsello, Giovanni
Electroclinical features and outcome of ANKRD11-related KBG syndrome: A novel report and literature review
2021-02-01 Nardello R; Mangano GD; Antona V; Fontana A; Striano P; Giorgio E; Brusco A; Mangano S; Salpietro V
Etiological heterogeneity and clinical variability in newborns with esophageal atresia
2018-01-01 Piro, E.; Schierz, I.; Giuffrè, M.; Cuffaro, G.; La Placa, S.; Antona, V.; Matina, F.; Puccio, G.; Cimador, M.; Corsello, G.
Follow-Up to Ensure Continuity of Care and Support Preventive Care
2023-03-08 Giuliana Ferrante , Vincenzo Antona, Mario Giuffre , Ettore Piro , Gregorio Serra , Giovanni Corsello
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis
2020-01-01 Pavinato L.; Villamor-Paya M.; Sanchiz-Calvo M.; Andreoli C.; Gay M.; Vilaseca M.; Arauz-Garofalo G.; Ciolfi A.; Bruselles A.; Pippucci T.; Prota V.; Carli D.; Giorgio E.; Radio F.C.; Antona V.; Giuffre M.; Ranguin K.; Colson C.; De Rubeis S.; Dimartino P.; Buxbaum J.D.; Ferrero G.B.; Tartaglia M.; Martinelli S.; Stracker T.H.; Brusco A.
Hypertrophic pyloric stenosis masked by kidney failure in a male infant with a contiguous gene deletion syndrome at Xp22.31 involving the steroid sulfatase gene: case report
2022-01-01 Schierz I.A.M.; Giuffre M.; Cimador M.; D'Alessandro M.M.; Serra G.; Favata F.; Antona V.; Piro E.; Corsello G.
Infant developmental profile of Crisponi syndrome due to compound heterozygosity for CRLF1 deletion
2020-01-01 Schierz I.A.M.; Serra G.; Antona V.; Persico I.; Corsello G.; Piro E.
Intellectual disabilitiy in developmental age
2015-09-30 Giuffrè, M.; Moceri, G.; Vecchio, D.; Antona, V.; Salzano, E.; Corsello, G.
| Data di pubblicazione | Titolo | Autori | Tipologia | Autore(i) | File |
|---|---|---|---|---|---|
| 1-apr-2022 | A complex epileptic and dysmorphic phenotype associated with a novel frameshift KDM5B variant and deletion of SCN gene cluster | Mangano GDAntona VFontana ANardello R + | 01 - Contributo in rivista::1.01 Articolo in rivista | Mangano GD; Antona V; Calì E; Fontana A; Salpietro V; Houlden H; Veggiotti P; Nardello R | |
| 1-ott-2020 | A novel cct5 missense variant associated with early onset motor neuropathy | Antona V.Scalia F.Oliveri M.Corsello G.Lo Celso F.Vadala M.Cappello F.Giuffre M. + | 01 - Contributo in rivista::1.01 Articolo in rivista | Antona V.; Scalia F.; Giorgio E.; Radio F.C.; Brusco A.; Oliveri M.; Corsello G.; Lo Celso F.; Vadala M.; de Macario E.C.; Macario A.J.L.; Cappello F.; Giuffre M. | |
| 1-gen-2018 | A novel mutation of WDR62 gene associated with severe phenotype including infantile spasm, microcephaly, and intellectual disability. | Nardello RFontana AAntona VBeninati AMangano GDMangano S + | 01 - Contributo in rivista::1.01 Articolo in rivista | Nardello R, Fontana A, Antona V, Beninati A, Mangano GD, Stallone MC, Mangano S | |
| 21-nov-2022 | A novel NF1 mutation in a pediatric patient with renal artery aneurysm | Chillura, IleniaRestivo, Giulia AngelaCallari, SimonettaCibella, SabrinaD'Alessandro, Maria MichelaCorrado, CiroVallone, MarioAntona, VincenzoCorsello, Giovanni | 01 - Contributo in rivista::1.01 Articolo in rivista | Chillura, Ilenia; Restivo, Giulia Angela; Callari, Simonetta; Cibella, Sabrina; D'Alessandro, Maria Michela; Corrado, Ciro; Vallone, Mario; Antona, Vincenzo; Corsello, Giovanni | |
| 1-gen-2021 | A paradigmatic autistic phenotype associated with loss of PCDH11Y and NLGN4Y genes | Nardello R.Antona V.Mangano G. D.Mangano S.Fontana A. + | 01 - Contributo in rivista::1.01 Articolo in rivista | Nardello R.; Antona V.; Mangano G.D.; Salpietro V.; Mangano S.; Fontana A. | |
| 1-gen-2012 | Array CGH identifies a 823 kb Microduplication at 22q 11.22 encompassing the Rab36 gene in a Child with Autism Spectrum Disorder and Mild Dysmorphism | M. PiccioneV. AntonaE. PiroD. VecchioE. SalzanoG. Corsello | 10 - Proceedings::Proceedings | Piccione, M.; Antona, V.; Piro, E.; Vecchio, D.; Salzano, E.; Corsello, G. | |
| 1-gen-2020 | Autosomal recessive polycystic kidney disease: case report of a newborn with rare PKHD1 mutation, rapid renal enlargement and early fatal outcome | Serra G.Corsello G.Antona V.Cimador M.Giuffre M.Schierz I. A. M.Piro E. + | 01 - Contributo in rivista::1.01 Articolo in rivista | Serra G.; Corsello G.; Antona V.; D'Alessandro M.M.; Cassata N.; Cimador M.; Giuffre M.; Schierz I.A.M.; Piro E. | |
| 14-apr-2024 | Carnitine palmitoyltransferase II (CPT II) deficiency responsible for refractory cardiac arrhythmias, acute multiorgan failure and early fatal outcome | Serra, GregorioAntona, VincenzoInsinga, VincenzoMorgante, GiusyVassallo, AlessiaPlaca, Simona LaPiro, EttoreSalerno, SergioSchierz, Ingrid Anne MandyGiuffre, MarioCorsello, Giovanni + | 01 - Contributo in rivista::1.01 Articolo in rivista | Serra, Gregorio; Antona, Vincenzo; Insinga, Vincenzo; Morgante, Giusy; Vassallo, Alessia; Placa, Simona La; Piro, Ettore; Salerno, Sergio; Schierz, Ingrid Anne Mandy; Gitto, Eloisa; Giuffre, Mario; Corsello, Giovanni | |
| 1-dic-2022 | Clinical and genetic approach in the characterization of newborns with anorectal malformation | Schierz I. A. M.Piro E.Giuffre M.Antona V.Cimador M.Corsello G. + | 01 - Contributo in rivista::1.01 Articolo in rivista | Schierz I.A.M.; Piro E.; Giuffre M.; Pinello G.; Angelini A.; Antona V.; Cimador M.; Corsello G. | |
| 1-gen-2018 | Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1 | Giovanni CorselloVincenzo AntonaGregorio SerraLuca LagallaMaria PiccioneEttore Piro + | 01 - Contributo in rivista::1.01 Articolo in rivista | Giovanni Corsello, Vincenzo Antona, Gregorio Serra, Federico Zara, Clara Giambrone, Luca Lagalla, Maria Piccione, Ettore Piro | |
| 1-gen-2022 | Commonalities and distinctions between two neurodevelopmental disorder subtypes associated with SCN2A and SCN8A variants and literature review | Mangano G. D.Fontana A.Antona V.Mangano G. R.Giuffre M.Nardello R. + | 01 - Contributo in rivista::1.01 Articolo in rivista | Mangano G.D.; Fontana A.; Antona V.; Salpietro V.; Mangano G.R.; Giuffre M.; Nardello R. | |
| 8-set-2022 | Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome | Serra, GregorioGiambrone, ClaraAntona, VincenzoCarta, MaurizioCimador, MarcelloCorsello, GiovanniGiuffre, MarioInsinga, VincenzoMaggio, Maria CristinaPensabene, MarcoSchierz, Ingrid Anne MandyPiro, Ettore + | 01 - Contributo in rivista::1.01 Articolo in rivista | Serra, Gregorio; Giambrone, Clara; Antona, Vincenzo; Cardella, Francesca; Carta, Maurizio; Cimador, Marcello; Corsello, Giovanni; Giuffre, Mario; Insinga, Vincenzo; Maggio, Maria Cristina; Pensabene, Marco; Schierz, Ingrid Anne Mandy; Piro, Ettore | |
| 29-lug-2022 | Distal Arthrogryposis type 5 in an Italian family due to an autosomal dominant gain-of-function mutation of the PIEZO2 gene | Serra, GregorioAntona, VincenzoCannata, ChiaraGiuffre, MarioPiro, EttoreSchierz, Ingrid Anne MandyCorsello, Giovanni | 01 - Contributo in rivista::1.01 Articolo in rivista | Serra, Gregorio; Antona, Vincenzo; Cannata, Chiara; Giuffre, Mario; Piro, Ettore; Schierz, Ingrid Anne Mandy; Corsello, Giovanni | |
| 1-feb-2021 | Electroclinical features and outcome of ANKRD11-related KBG syndrome: A novel report and literature review | Nardello RMangano GDAntona VFontana AMangano S + | 01 - Contributo in rivista::1.01 Articolo in rivista | Nardello R; Mangano GD; Antona V; Fontana A; Striano P; Giorgio E; Brusco A; Mangano S; Salpietro V | |
| 1-gen-2018 | Etiological heterogeneity and clinical variability in newborns with esophageal atresia | Piro EGiuffrè MLa Placa SAntona VCimador MCorsello G. + | 01 - Contributo in rivista::1.01 Articolo in rivista | Piro, E.; Schierz, I.; Giuffrè, M.; Cuffaro, G.; La Placa, S.; Antona, V.; Matina, F.; Puccio, G.; Cimador, M.; Corsello, G. | |
| 8-mar-2023 | Follow-Up to Ensure Continuity of Care and Support Preventive Care | Giuliana FerranteVincenzo AntonaMario GiuffreEttore PiroGregorio SerraGiovanni Corsello | 02 - Contributo in volume::2.01 Capitolo o Saggio | Giuliana Ferrante , Vincenzo Antona, Mario Giuffre , Ettore Piro , Gregorio Serra , Giovanni Corsello | |
| 1-gen-2020 | Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis | Antona V.Giuffre M. + | 01 - Contributo in rivista::1.01 Articolo in rivista | Pavinato L.; Villamor-Paya M.; Sanchiz-Calvo M.; Andreoli C.; Gay M.; Vilaseca M.; Arauz-Garofalo G.; Ciolfi A.; Bruselles A.; Pippucci T.; Prota V.; Carli D.; Giorgio E.; Radio F.C.; Antona V.; Giuffre M.; Ranguin K.; Colson C.; De Rubeis S.; Dimartino P.; Buxbaum J.D.; Ferrero G.B.; Tartaglia M.; Martinelli S.; Stracker T.H.; Brusco A. | |
| 1-gen-2022 | Hypertrophic pyloric stenosis masked by kidney failure in a male infant with a contiguous gene deletion syndrome at Xp22.31 involving the steroid sulfatase gene: case report | Schierz I. A. M.Giuffre M.Cimador M.D'Alessandro M. M.Serra G.Antona V.Piro E.Corsello G. + | 01 - Contributo in rivista::1.01 Articolo in rivista | Schierz I.A.M.; Giuffre M.; Cimador M.; D'Alessandro M.M.; Serra G.; Favata F.; Antona V.; Piro E.; Corsello G. | |
| 1-gen-2020 | Infant developmental profile of Crisponi syndrome due to compound heterozygosity for CRLF1 deletion | Schierz I. A. M.Serra G.Antona V.Corsello G.Piro E. + | 01 - Contributo in rivista::1.01 Articolo in rivista | Schierz I.A.M.; Serra G.; Antona V.; Persico I.; Corsello G.; Piro E. | |
| 30-set-2015 | Intellectual disabilitiy in developmental age | GIUFFRE, MarioMOCERI, GiovanniVECCHIO, DavideANTONA, VincenzoSALZANO, EmanuelaCORSELLO, Giovanni | 01 - Contributo in rivista::1.01 Articolo in rivista | Giuffrè, M.; Moceri, G.; Vecchio, D.; Antona, V.; Salzano, E.; Corsello, G. |