ANTONA, Vincenzo
ANTONA, Vincenzo
A novel cct5 missense variant associated with early onset motor neuropathy
2020-01-01 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 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.
Clinical and genetic approach in the characterization of newborns with anorectal malformation
2020-01-01 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
2020-01-01 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.
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.
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.
INTELLECTUAL DISABILITY, EPILEPSY AND MILD DYSMORPHISMS DUE 22q11.2 DISTAL DUPLICATION: CLINICAL AND MOLECULAR CHARACTERIZATION OF A 0.5 Mb MINIMAL CRITICAL REGION
2016-01-01 Vecchio, D.; Piccione, M.; D'Adamo, P.; Mignogna, M.; Salzano, E.; Giuffrè, M.; Antona, V.; Caputo, V.; Pizzuti, A.; Nardello, R.; Piro, E.; Capobianco, E.; Corsello, G.
Interstitial deletions of chromosome 1p: novel 1p31.3p22.2 microdeletion in a newborn with craniosynostosis, coloboma and cleft palate, and review of the genomic and phenotypic profiles
2022-03-04 Serra G.; Antona V.; Giuffre M.; Piro E.; Salerno S.; Schierz I.A.M.; Corsello G.
Intestinal malrotation in a female newborn affected by Osteopathia Striata with Cranial Sclerosis due to a de novo heterozygous nonsense mutation of the AMER1 gene
2022-12-29 Serra, Gregorio; Antona, Vincenzo; Di Pace, Maria Rita; Giuffre, Mario; Morgante, Giusy; Piro, Ettore; Pirrello, Roberto; Salerno, Sergio; Schierz, Ingrid Anne Mandy; Verde, Vincenzo; Corsello, Giovanni