Search Results - Vincenzo Antona

NF1 microdeletion syndrome: case report of two new patients by Gregorio Serra, Vincenzo Antona, Giovanni Corsello, Federico Zara, Ettore Piro, Raffaele Falsaperla

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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

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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

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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

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Recognizable neonatal clinical features of aplasia cutis congenita by Ingrid Anne Mandy Schierz, Mario Giuffrè, Antonello Del Vecchio, Vincenzo Antona, Giovanni Corsello, Ettore Piro

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Novel de novo missense mutation in the interferon regulatory factor 6 gene in an Italian infant with IRF6-related disorder by Ingrid Anne Mandy Schierz, Salvatore Amoroso, Vincenzo Antona, Mario Giuffrè, Ettore Piro, Gregorio Serra, Giovanni Corsello

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Distal Arthrogryposis type 5 in an Italian family due to an autosomal dominant gain-of-function mutation of the PIEZO2 gene by Gregorio Serra, Vincenzo Antona, Chiara Cannata, Mario Giuffrè, Ettore Piro, Ingrid Anne Mandy Schierz, Giovanni Corsello

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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 pro... by Gregorio Serra, Vincenzo Antona, Mario Giuffrè, Ettore Piro, Sergio Salerno, Ingrid Anne Mandy Schierz, Giovanni Corsello

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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

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Cardio-facio-cutaneous syndrome and gastrointestinal defects: report on a newborn with 19p13.3 deletion including the MAP 2 K2 gene by Gregorio Serra, Sofia Felice, Vincenzo Antona, Maria Rita Di Pace, Mario Giuffrè, Ettore Piro, Giovanni Corsello

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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

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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

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Pulmonary arteriovenous malformation as a cause of exercise intolerance in children: a case report by Pierluigi Morreale, Veronica Notarbartolo, Giancarlo Allegro, Mario Giuseppe Vallone, Francesca Finazzo, Vincenzo Antona, Maria Fiorella Sanfilippo, Calogero Comparato

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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

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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

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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

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A novel NF1 mutation in a pediatric patient with renal artery aneurysm by Ilenia Chillura, Giulia Angela Restivo, Simonetta Callari, Sabrina Cibella, Maria Michela D'Alessandro, Ciro Corrado, Mario Vallone, Vincenzo Antona, Giovanni Corsello

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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 by Gregorio Serra, Vincenzo Antona, Marcello Cimador, Giorgia Collodoro, Marco Guida, Ettore Piro, Ingrid Anne Mandy Schierz, Vincenzo Verde, Mario Giuffrè, Giovanni Corsello

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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

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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 by Ingrid Anne Mandy Schierz, Mario Giuffrè, Marcello Cimador, Maria Michela D'Alessandro, Gregorio Serra, Federico Favata, Vincenzo Antona, Ettore Piro, Giovanni Corsello

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