Arama Sonuçları - Vincenzo Antona

NF1 microdeletion syndrome: case report of two new patients Yazar: 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 Yazar: 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 Yazar: 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 Yazar: 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 Yazar: 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 Yazar: 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 Yazar: 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... Yazar: 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 Yazar: 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 Yazar: 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 Yazar: 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 Yazar: 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 Yazar: 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 Yazar: 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 Yazar: 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 Yazar: 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 Yazar: 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 Yazar: 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 Yazar: 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 Yazar: 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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