Sfoglia per Autore
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.
Total colonic aganglionosis and cleft palate in a newborn with Janus-cysteine 618 mutation of RET proto-oncogene: A case report
2020-01-01 Schierz I.A.M.; Cimador M.; Giuffre M.; Aiello C.M.; Antona V.; Corsello G.; Piro E.
Jacobsen syndrome and neonatal bleeding: report on two unrelated patients
2021-01-01 Serra G.; Memo L.; Antona V.; Corsello G.; Favero V.; Lago P.; Giuffre M.
Novel SCNN1A gene splicing-site mutation causing autosomal recessive pseudohypoaldosteronism type 1 (PHA1) in two Italian patients belonging to the same small town
2021-01-01 Serra G.; Antona V.; D'Alessandro M.M.; Maggio M.C.; Verde V.; Corsello G.
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.
Novel missense mutation of the TP63 gene in a newborn with Hay-Wells/Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome: clinical report and follow-up
2021-09-28 Serra, Gregorio; Antona, Vincenzo; Giuffré, Mario; Li Pomi, Federica; Lo Scalzo, Lucia; Piro, Ettore; Schierz, Ingrid Anne Mandy; Corsello, Giovanni
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.
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.
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.
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
Quando l’amnios si rompe troppo presto e… da solo
2022-06-01 GREGORIO SERRA, VINCENZO ANTONA, ANTONIO CORSELLO, FEDERICA LI POMI, MARIA ROSARIA LA BIANCA, GIOVANNI CORSELLO
Muscle Histopathological Abnormalities in a Patient With a CCT5 Mutation Predicted to Affect the Apical Domain of the Chaperonin Subunit
2022-06-02 Scalia, Federica; Barone, Rosario; Rappa, Francesca; Marino Gammazza, Antonella; Lo Celso, Fabrizio; Lo Bosco, Giosuè; Barone, Giampaolo; Antona, Vincenzo; Vadalà, Maria; Vitale, Alessandra Maria; Donato Mangano, Giuseppe; Amato, Domenico; Sentiero, Giusy; Macaluso, Filippo; Myburgh, Kathryn H.; Conway de Macario, Everly; Macario, Alberto J. L.; Giuffrè, Mario; Cappello, Francesco
Novel de novo missense mutation in the interferon regulatory factor 6 gene in an Italian infant with IRF6-related disorder
2022-07-29 Schierz, Ingrid Anne Mandy; Amoroso, Salvatore; Antona, Vincenzo; Giuffre, Mario; Piro, Ettore; Serra, Gregorio; Corsello, Giovanni
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
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
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
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
New insights on partial trisomy 3q syndrome: de novo 3q27.1-q29 duplication in a newborn with pre and postnatal overgrowth and assisted reproductive conception
2023-01-01 Serra, Gregorio; Antona, Vincenzo; Cimador, Marcello; Collodoro, Giorgia; Guida, Marco; Piro, Ettore; Schierz, Ingrid Anne Mandy; Verde, Vincenzo; Giuffre, Mario; Corsello, Giovanni
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
La Bioetica sul campo: una sfida per il neonatologo e il pediatra
2023-12-01 Serra, Gregorio; Antona, Vincenzo; Giuffre, Mario; Guardino, Melania; Piro, Ettore; Vassallo, Alessia; Corsello, Giovanni
Legenda icone
- file ad accesso aperto
- file disponibili sulla rete interna
- file disponibili agli utenti autorizzati
- file disponibili solo agli amministratori
- file sotto embargo
- nessun file disponibile