Neonatal hyperinsulinemic hypoglycemia: case report of kabuki syndrome due to a novel KMT2D splicing-site mutation
Piro, Ettore, Schierz, Ingrid Anne Mandy, Antona, Vincenzo, Pappalardo, Maria Pia, Giuffrè, Mario, Serra, Gregorio, Corsello, Giovanni
Published in Italian journal of pediatrics (18.09.2020)
Published in Italian journal of pediatrics (18.09.2020)
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Journal Article
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
Serra, Gregorio, Antona, Vincenzo, Giuffrè, Mario, Piro, Ettore, Salerno, Sergio, Schierz, Ingrid Anne Mandy, Corsello, Giovanni
Published in Italian journal of pediatrics (04.03.2022)
Published in Italian journal of pediatrics (04.03.2022)
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Journal Article
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
Serra, Gregorio, Antona, Vincenzo, Giuffré, Mario, Li Pomi, Federica, Lo Scalzo, Lucia, Piro, Ettore, Schierz, Ingrid Anne Mandy, Corsello, Giovanni
Published in Italian journal of pediatrics (28.09.2021)
Published in Italian journal of pediatrics (28.09.2021)
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Journal Article
Distal Arthrogryposis type 5 in an Italian family due to an autosomal dominant gain-of-function mutation of the PIEZO2 gene
Serra, Gregorio, Antona, Vincenzo, Cannata, Chiara, Giuffrè, Mario, Piro, Ettore, Schierz, Ingrid Anne Mandy, Corsello, Giovanni
Published in Italian journal of pediatrics (29.07.2022)
Published in Italian journal of pediatrics (29.07.2022)
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Journal Article
Novel de novo missense mutation in the interferon regulatory factor 6 gene in an Italian infant with IRF6-related disorder
Schierz, Ingrid Anne Mandy, Amoroso, Salvatore, Antona, Vincenzo, Giuffrè, Mario, Piro, Ettore, Serra, Gregorio, Corsello, Giovanni
Published in Italian journal of pediatrics (29.07.2022)
Published in Italian journal of pediatrics (29.07.2022)
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Journal Article
Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: case report of an Italian patient
Piro, Ettore, Serra, Gregorio, Antona, Vincenzo, Giuffrè, Mario, Giorgio, Elisa, Sirchia, Fabio, Schierz, Ingrid Anne Mandy, Brusco, Alfredo, Corsello, Giovanni
Published in Italian journal of pediatrics (24.09.2020)
Published in Italian journal of pediatrics (24.09.2020)
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Journal Article
Carnitine palmitoyltransferase II (CPT II) deficiency responsible for refractory cardiac arrhythmias, acute multiorgan failure and early fatal outcome
Serra, Gregorio, Antona, Vincenzo, Insinga, Vincenzo, Morgante, Giusy, Vassallo, Alessia, Placa, Simona La, Piro, Ettore, Salerno, Sergio, Schierz, Ingrid Anne Mandy, Gitto, Eloisa, Giuffrè, Mario, Corsello, Giovanni
Published in Italian journal of pediatrics (14.04.2024)
Published in Italian journal of pediatrics (14.04.2024)
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Journal Article
Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome
Serra, Gregorio, Giambrone, Clara, Antona, Vincenzo, Cardella, Francesca, Carta, Maurizio, Cimador, Marcello, Corsello, Giovanni, Giuffrè, Mario, Insinga, Vincenzo, Maggio, Maria Cristina, Pensabene, Marco, Schierz, Ingrid Anne Mandy, Piro, Ettore
Published in Italian journal of pediatrics (08.09.2022)
Published in Italian journal of pediatrics (08.09.2022)
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Journal Article
Necrotizing enterocolitis in the preterm: newborns medical and nutritional Management in a Single-Center Study
Savarino, Giovanni, Carta, Maurizio, Cimador, Marcello, Corsello, Antonio, Giuffrè, Mario, Schierz, Ingrid Anne Mandy, Serra, Gregorio, Corsello, Giovanni
Published in Italian journal of pediatrics (14.11.2021)
Published in Italian journal of pediatrics (14.11.2021)
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Journal Article
Report and follow-up on two new patients with congenital mesoblastic nephroma
Serra, Gregorio, Cimador, Marcello, Giuffrè, Mario, Insinga, Vincenzo, Montante, Claudio, Pensabene, Marco, Piro, Ettore, Salerno, Sergio, Schierz, Ingrid Anne Mandy, Corsello, Giovanni
Published in Italian journal of pediatrics (19.09.2023)
Published in Italian journal of pediatrics (19.09.2023)
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Journal Article
Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis
Serra, Gregorio, Memo, Luigi, Cavicchioli, Paola, Cutrone, Mario, Giuffrè, Mario, La Torre, Maria Laura, Schierz, Ingrid Anne Mandy, Corsello, Giovanni
Published in Italian journal of pediatrics (13.08.2022)
Published in Italian journal of pediatrics (13.08.2022)
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Journal Article
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
Serra, Gregorio, Antona, Vincenzo, Cimador, Marcello, Collodoro, Giorgia, Guida, Marco, Piro, Ettore, Schierz, Ingrid Anne Mandy, Verde, Vincenzo, Giuffrè, Mario, Corsello, Giovanni
Published in Italian journal of pediatrics (09.02.2023)
Published in Italian journal of pediatrics (09.02.2023)
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Journal Article
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, Ingrid Anne Mandy, Giuffrè, Mario, Cimador, Marcello, D'Alessandro, Maria Michela, Serra, Gregorio, Favata, Federico, Antona, Vincenzo, Piro, Ettore, Corsello, Giovanni
Published in Italian journal of pediatrics (03.02.2022)
Published in Italian journal of pediatrics (03.02.2022)
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Journal Article
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
Serra, Gregorio, Antona, Vincenzo, Di Pace, Maria Rita, Giuffrè, Mario, Morgante, Giusy, Piro, Ettore, Pirrello, Roberto, Salerno, Sergio, Schierz, Ingrid Anne Mandy, Verde, Vincenzo, Corsello, Giovanni
Published in Italian journal of pediatrics (29.12.2022)
Published in Italian journal of pediatrics (29.12.2022)
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Journal Article
Congenital syphilis in a preterm newborn with gastrointestinal disorders and postnatal growth restriction
Serra, Gregorio, Carta, Maurizio, Di Pace, Maria Rita, La Sala, Eleonora, Piro, Ettore, Salerno, Sergio, Schierz, Ingrid Anne Mandy, Vassallo, Alessia, Giuffrè, Mario, Corsello, Giovanni
Published in Italian journal of pediatrics (29.12.2022)
Published in Italian journal of pediatrics (29.12.2022)
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Journal Article
Recognizable neonatal clinical features of aplasia cutis congenita
Schierz, Ingrid Anne Mandy, Giuffrè, Mario, Del Vecchio, Antonello, Antona, Vincenzo, Corsello, Giovanni, Piro, Ettore
Published in Italian journal of pediatrics (18.02.2020)
Published in Italian journal of pediatrics (18.02.2020)
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Journal Article