Vincenzo Antona

Affiliations

Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties, University of Palermo, 90127 Palermo, Italy.

Publications (22)

A Novel CCT5 Missense Variant Associated with Early Onset Motor Neuropathy.

International journal of molecular sciences

Avec: 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

Distal Arthrogryposis type 5 in an Italian family due to an autosomal dominant gain-of-function mutation of the PIEZO2 gene.

Italian journal of pediatrics

Avec: Gregorio Serra , Vincenzo Antona , Chiara Cannata , Mario Giuffrè , Ettore Piro , Ingrid Anne Mandy Schierz , Giovanni Corsello

Distinguishing genetic alterations versus (epi)mutations in Silver-Russell syndrome and focus on the IGF1R gene.

The Journal of clinical endocrinology and metabolism

Avec: Alessandro Vimercati , Pierpaola Tannorella , Sara Guzzetti , Luciano Calzari , Davide Gentilini , Emanuela Manfredini , Giulia Gori , Rossella Gaudino , Vincenzo Antona , Maria Piccione , Cecilia Daolio , Renata Auricchio , Fabio Sirchia , Antonella Minelli , Elena Rossi , Melissa Bellini , Giacomo Biasucci , Annalisa Russo Raucci , Gabriella Pozzobon , Giuseppa Patti , Flavia Napoli , Lidia Larizza , Mohamad Maghnie , Silvia Russo

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

Italian journal of pediatrics

Avec: Silvia Amodeo , Giuseppe Vitrano , Melania Guardino , Giuseppe Paci , Fulvio Corselli , Vincenzo Antona , Giuseppe Barrano , Monia Magliozzi , Antonio Novelli , Renato Venezia , Giovanni Corsello

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

Italian journal of pediatrics

Avec: Ettore Piro , Ingrid Anne Mandy Schierz , Vincenzo Antona , Maria Pia Pappalardo , Mario Giuffrè , Gregorio Serra , Giovanni Corsello

A complex epileptic and dysmorphic phenotype associated with a novel frameshift KDM5B variant and deletion of SCN gene cluster.

Seizure

Avec: Giuseppe Donato Mangano , Vincenzo Antona , Elisa Calì , Antonina Fontana , Vincenzo Salpietro , Henry Houlden , Pierangelo Veggiotti , Rosaria Nardello

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.

Italian journal of pediatrics

Avec: Gregorio Serra , Vincenzo Antona , Maria Rita Di Pace , Mario Giuffrè , Giusy Morgante , Ettore Piro , Roberto Pirrello , Sergio Salerno , Ingrid Anne Mandy Schierz , Vincenzo Verde , Giovanni Corsello

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

BMC medical genomics

Avec: Rosaria Nardello , Vincenzo Antona , Giuseppe Donato Mangano , Vincenzo Salpietro , Salvatore Mangano , Antonina Fontana

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.

Italian journal of pediatrics

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

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.

Italian journal of pediatrics

Avec: Gregorio Serra , Vincenzo Antona , Mario Giuffrè , Ettore Piro , Sergio Salerno , Ingrid Anne Mandy Schierz , Giovanni Corsello

Recurrent missense variant in the nuclear export signal of FMR1 associated with FXS-like phenotype including intellectual disability, ASD, facial abnormalities.

European journal of medical genetics

Avec: Giuseppe Donato Mangano , Antonina Fontana , Vincenzo Salpietro , Vincenzo Antona , Giuseppa Renata Mangano , Rosaria Nardello

Carnitine palmitoyltransferase II (CPT II) deficiency responsible for refractory cardiac arrhythmias, acute multiorgan failure and early fatal outcome.

Italian journal of pediatrics

Avec: Gregorio Serra , Vincenzo Antona , Vincenzo Insinga , Giusy Morgante , Alessia Vassallo , Simona La Placa , Ettore Piro , Sergio Salerno , Ingrid Anne Mandy Schierz , Eloisa Gitto , Mario Giuffrè , Giovanni Corsello

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.

Italian journal of pediatrics

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

NF1 microdeletion syndrome: case report of two new patients.

Italian journal of pediatrics

Avec: Gregorio Serra , Vincenzo Antona , Giovanni Corsello , Federico Zara , Ettore Piro , Raffaele Falsaperla

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

Italian journal of pediatrics

Avec: Gregorio Serra , Giovanni Corsello , Vincenzo Antona , Maria Michela D'Alessandro , Nicola Cassata , Marcello Cimador , Mario Giuffrè , Ingrid Anne Mandy Schierz , Ettore Piro

Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance.

Clinical epigenetics

Avec: Maria Vittoria Cubellis , Laura Pignata , Ankit Verma , Angela Sparago , Rosita Del Prete , Maria Monticelli , Luciano Calzari , Vincenzo Antona , Daniela Melis , Romano Tenconi , Silvia Russo , Flavia Cerrato , Andrea Riccio

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

Italian journal of pediatrics

Avec: Gregorio Serra , Vincenzo Antona , Maria Michela D'Alessandro , Maria Cristina Maggio , Vincenzo Verde , Giovanni Corsello

Commonalities and distinctions between two neurodevelopmental disorder subtypes associated with SCN2A and SCN8A variants and literature review.

Molecular genetics & genomic medicine

Avec: Giuseppe Donato Mangano , Antonina Fontana , Vincenzo Antona , Vincenzo Salpietro , Giuseppa Renata Mangano , Mario Giuffrè , Rosaria Nardello

Cardio-facio-cutaneous syndrome and gastrointestinal defects: report on a newborn with 19p13.3 deletion including the MAP 2 K2 gene.

Italian journal of pediatrics

Avec: Gregorio Serra , Sofia Felice , Vincenzo Antona , Maria Rita Di Pace , Mario Giuffrè , Ettore Piro , Giovanni Corsello

Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome.

Italian journal of pediatrics

Avec: Gregorio Serra , Clara Giambrone , Vincenzo Antona , Francesca Cardella , Maurizio Carta , Marcello Cimador , Giovanni Corsello , Mario Giuffrè , Vincenzo Insinga , Maria Cristina Maggio , Marco Pensabene , Ingrid Anne Mandy Schierz , Ettore Piro

Recognizable neonatal clinical features of aplasia cutis congenita.

Italian journal of pediatrics

Avec: Ingrid Anne Mandy Schierz , Mario Giuffrè , Antonello Del Vecchio , Vincenzo Antona , Giovanni Corsello , Ettore Piro

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.

Italian journal of pediatrics

Avec: Gregorio Serra , Vincenzo Antona , Mario Giuffré , Federica Li Pomi , Lucia Lo Scalzo , Ettore Piro , Ingrid Anne Mandy Schierz , Giovanni Corsello

Réseau de co-auteurs

Giovanni Corsello 16 collaborations

Mario Giuffrè 13 collaborations

Gregorio Serra 13 collaborations

Ettore Piro 13 collaborations

Ingrid Anne Mandy Schierz 11 collaborations

Giuseppe Donato Mangano 4 collaborations

Antonina Fontana 4 collaborations

Vincenzo Salpietro 4 collaborations

Rosaria Nardello 4 collaborations

Marcello Cimador 4 collaborations

Sergio Salerno 3 collaborations

Vincenzo Verde 3 collaborations

Maria Michela D'Alessandro 3 collaborations

Luciano Calzari 2 collaborations

Silvia Russo 2 collaborations

Maria Rita Di Pace 2 collaborations

Giusy Morgante 2 collaborations

Giuseppa Renata Mangano 2 collaborations

Vincenzo Insinga 2 collaborations

Maria Cristina Maggio 2 collaborations

Federica Scalia 1 collaboration

Elisa Giorgio 1 collaboration

Francesca C Radio 1 collaboration

Alfredo Brusco 1 collaboration

Massimiliano Oliveri 1 collaboration

Fabrizio Lo Celso 1 collaboration

Maria Vadalà 1 collaboration

Everly Conway de Macario 1 collaboration

Alberto J L Macario 1 collaboration

Francesco Cappello 1 collaboration

Chiara Cannata 1 collaboration

Alessandro Vimercati 1 collaboration

Pierpaola Tannorella 1 collaboration

Sara Guzzetti 1 collaboration

Davide Gentilini 1 collaboration

Emanuela Manfredini 1 collaboration

Giulia Gori 1 collaboration

Rossella Gaudino 1 collaboration

Maria Piccione 1 collaboration

Cecilia Daolio 1 collaboration

Renata Auricchio 1 collaboration

Fabio Sirchia 1 collaboration

Antonella Minelli 1 collaboration

Elena Rossi 1 collaboration

Melissa Bellini 1 collaboration

Giacomo Biasucci 1 collaboration

Annalisa Russo Raucci 1 collaboration

Gabriella Pozzobon 1 collaboration

Giuseppa Patti 1 collaboration

Flavia Napoli 1 collaboration

Lidia Larizza 1 collaboration

Mohamad Maghnie 1 collaboration

Silvia Amodeo 1 collaboration

Giuseppe Vitrano 1 collaboration

Melania Guardino 1 collaboration

Giuseppe Paci 1 collaboration

Fulvio Corselli 1 collaboration

Giuseppe Barrano 1 collaboration

Monia Magliozzi 1 collaboration

Antonio Novelli 1 collaboration

Renato Venezia 1 collaboration

Maria Pia Pappalardo 1 collaboration

Elisa Calì 1 collaboration

Henry Houlden 1 collaboration

Pierangelo Veggiotti 1 collaboration

Roberto Pirrello 1 collaboration

Salvatore Mangano 1 collaboration

Federico Favata 1 collaboration

Alessia Vassallo 1 collaboration

Simona La Placa 1 collaboration

Eloisa Gitto 1 collaboration

Giorgia Collodoro 1 collaboration

Marco Guida 1 collaboration

Federico Zara 1 collaboration

Raffaele Falsaperla 1 collaboration

Nicola Cassata 1 collaboration

Maria Vittoria Cubellis 1 collaboration

Laura Pignata 1 collaboration

Ankit Verma 1 collaboration

Angela Sparago 1 collaboration

Rosita Del Prete 1 collaboration

Maria Monticelli 1 collaboration

Daniela Melis 1 collaboration

Romano Tenconi 1 collaboration

Flavia Cerrato 1 collaboration

Andrea Riccio 1 collaboration

Sofia Felice 1 collaboration

Clara Giambrone 1 collaboration

Francesca Cardella 1 collaboration

Maurizio Carta 1 collaboration

Marco Pensabene 1 collaboration

Antonello Del Vecchio 1 collaboration

Mario Giuffré 1 collaboration

Federica Li Pomi 1 collaboration

Lucia Lo Scalzo 1 collaboration