NF1 microdeletion syndrome: case report of two new patients

by Gregorio Serra, Vincenzo Antona, Giovanni Corsello, Federico Zara, Ettore Piro, Raffaele Falsaperla
Published 2019-11-01

A paradigmatic autistic phenotype associated with loss of PCDH11Y and NLGN4Y genes

by Rosaria Nardello, Vincenzo Antona, Giuseppe Donato Mangano, Vincenzo Salpietro, Salvatore Mangano, Antonina Fontana
Published 2021-04-01

Jacobsen syndrome and neonatal bleeding: report on two unrelated patients

by Gregorio Serra, Luigi Memo, Vincenzo Antona, Giovanni Corsello, Valentina Favero, Paola Lago, Mario Giuffrè
Published 2021-07-01

Recognizable neonatal clinical features of aplasia cutis congenita

by Ingrid Anne Mandy Schierz, Mario Giuffrè, Antonello Del Vecchio, Vincenzo Antona, Giovanni Corsello, Ettore Piro
Published 2020-02-01

Novel SCNN1A gene splicing-site mutation causing autosomal recessive pseudohypoaldosteronism type 1 (PHA1) in two Italian patients belonging to the same small town

by Gregorio Serra, Vincenzo Antona, Maria Michela D’Alessandro, Maria Cristina Maggio, Vincenzo Verde, Giovanni Corsello
Published 2021-06-01

Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1

by Giovanni Corsello, Vincenzo Antona, Gregorio Serra, Federico Zara, Clara Giambrone, Luca Lagalla, Maria Piccione, Ettore Piro
Published 2018-04-01

Neonatal hyperinsulinemic hypoglycemia: case report of kabuki syndrome due to a novel KMT2D splicing-site mutation

by Ettore Piro, Ingrid Anne Mandy Schierz, Vincenzo Antona, Maria Pia Pappalardo, Mario Giuffrè, Gregorio Serra, Giovanni Corsello
Published 2020-09-01

Total colonic aganglionosis and cleft palate in a newborn with Janus-cysteine 618 mutation of RET proto-oncogene: a case report

by Ingrid Anne Mandy Schierz, Marcello Cimador, Mario Giuffrè, Claudia Maria Aiello, Vincenzo Antona, Giovanni Corsello, Ettore Piro
Published 2020-09-01

Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: case report of an Italian patient

by Ettore Piro, Gregorio Serra, Vincenzo Antona, Mario Giuffrè, Elisa Giorgio, Fabio Sirchia, Ingrid Anne Mandy Schierz, Alfredo Brusco, Giovanni Corsello
Published 2020-09-01

Perinatal management of gastroschisis

by Vincenzo Insinga, Clelia Lo Verso, Vincenzo Antona, Marcello Cimador, Rita Ortolano, Maurizio Carta, Simona La Placa, Mario Giuffrè, Giovanni Corsello
Published 2014-03-01

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

by Gregorio Serra, Vincenzo Antona, Mario Giuffré, Federica Li Pomi, Lucia Lo Scalzo, Ettore Piro, Ingrid Anne Mandy Schierz, Giovanni Corsello
Published 2021-09-01

What is the impact of a novel MED12 variant on syndromic conotruncal heart defects? Analysis of case report on two male sibs

by Silvia Amodeo, Giuseppe Vitrano, Melania Guardino, Giuseppe Paci, Fulvio Corselli, Vincenzo Antona, Giuseppe Barrano, Monia Magliozzi, Antonio Novelli, Renato Venezia, Giovanni Corsello
Published 2020-07-01

Autosomal recessive polycystic kidney disease: case report of a newborn with rare PKHD1 mutation, rapid renal enlargement and early fatal outcome

by Gregorio Serra, Giovanni Corsello, Vincenzo Antona, Maria Michela D’Alessandro, Nicola Cassata, Marcello Cimador, Mario Giuffrè, Ingrid Anne Mandy Schierz, Ettore Piro
Published 2020-10-01

Etiological heterogeneity and clinical variability in newborns with esophageal atresia

by Ettore Piro, Ingrid Anne Mandy Schierz, Mario Giuffrè, Giovanni Cuffaro, Simona La Placa, Vincenzo Antona, Federico Matina, Giuseppe Puccio, Marcello Cimador, Giovanni Corsello
Published 2018-01-01

A Novel CCT5 Missense Variant Associated with Early Onset Motor Neuropathy

by Vincenzo Antona, Federica Scalia, Elisa Giorgio, Francesca C. Radio, Alfredo Brusco, Massimiliano Oliveri, Giovanni Corsello, Fabrizio Lo Celso, Maria Vadalà, Everly Conway de Macario, Alberto J. L. Macario, Francesco Cappello, Mario Giuffrè
Published 2020-10-01