Zobrazeno 1 - 10
of 86
pro vyhledávání: '"Vincenzo Antona"'
Autor:
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
Publikováno v:
Italian Journal of Pediatrics, Vol 50, Iss 1, Pp 1-7 (2024)
Abstract Background Carnitine palmitoyltransferase II (CPT II) deficiency is a rare inborn error of mitochondrial fatty acid metabolism with autosomal recessive pattern of inheritance. Its phenotype is highly variable (neonatal, infantile, and adult
Externí odkaz:
https://doaj.org/article/65719bfe5f5a4631adf2049d327c6e44
Autor:
Pierluigi Morreale, Veronica Notarbartolo, Giancarlo Allegro, Mario Giuseppe Vallone, Francesca Finazzo, Vincenzo Antona, Maria Fiorella Sanfilippo, Calogero Comparato
Publikováno v:
Paediatrica Indonesiana, Vol 63, Iss 3, Pp 208-12 (2023)
Pulmonary arteriovenous malformations (PAVMs) in children are rare lesions characterized by abnormal low resistance vascular structures connecting a pulmonary artery to a pulmonary vein, resulting in an intrapulmonary right-to-left shunt. The insidio
Externí odkaz:
https://doaj.org/article/72d30f44a5004d2193f4276f6f03017c
Autor:
Gianluca Dini, Alberto Verrotti, Paolo Gorello, Luca Soliani, Duccio Maria Cordelli, Vincenzo Antona, Amedea Mencarelli, Davide Colavito, Paolo Prontera
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
BackgroundNFIA-related disorder (OMIM #613735) is an autosomal dominant neurodevelopmental disorder characterized by a variable degree of cognitive impairment and non-specific dysmorphic features. To date, fewer than thirty patients affected by this
Externí odkaz:
https://doaj.org/article/8ec25769b4fa46dd92f227b84a70043c
Autor:
Gregorio Serra, Vincenzo Antona, Marcello Cimador, Giorgia Collodoro, Marco Guida, Ettore Piro, Ingrid Anne Mandy Schierz, Vincenzo Verde, Mario Giuffrè, Giovanni Corsello
Publikováno v:
Italian Journal of Pediatrics, Vol 49, Iss 1, Pp 1-8 (2023)
Abstract Background Duplications of the long arm of chromosome 3 are rare, and associated to a well-defined contiguous gene syndrome known as partial trisomy 3q syndrome. It has been first described in 1966 by Falek et al., and since then around 100
Externí odkaz:
https://doaj.org/article/61d83b7eba7845418b27c001db2a8fc6
Autor:
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
Publikováno v:
Italian Journal of Pediatrics, Vol 48, Iss 1, Pp 1-7 (2022)
Abstract Background Osteopathia Striata with Cranial Sclerosis (OS-CS), also known as Horan-Beighton Syndrome, is a rare genetic disease; about 90 cases have been reported to date. It is associated with mutations (heterozygous for female subjects and
Externí odkaz:
https://doaj.org/article/da61e53b53284d9a9371d6933387a6ab
Autor:
Ilenia Chillura, Giulia Angela Restivo, Simonetta Callari, Sabrina Cibella, Maria Michela D’Alessandro, Ciro Corrado, Mario Vallone, Vincenzo Antona, Giovanni Corsello
Publikováno v:
Italian Journal of Pediatrics, Vol 48, Iss 1, Pp 1-5 (2022)
Abstract Background Neurofibromatosis type 1 (NF1) is a neurocutaneous syndrome, due to heterozygous pathogenic variants in NF1 gene. The main clinical manifestations are multiple café au lait spots, axillary and inguinal freckling, cutaneous and pl
Externí odkaz:
https://doaj.org/article/82d464b8abaf4017a8c28b849f36b134
Autor:
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
Publikováno v:
Italian Journal of Pediatrics, Vol 48, Iss 1, Pp 1-8 (2022)
Abstract Background Cat eye syndrome (CES) is a rare chromosomal disease, with estimated incidence of about 1 in 100,000 live newborns. The classic triad of iris coloboma, anorectal malformations, and auricular abnormalities is present in 40% of pati
Externí odkaz:
https://doaj.org/article/f230bee370b44f85baf1efd9abfa1a8d
Autor:
Gregorio Serra, Vincenzo Antona, Chiara Cannata, Mario Giuffrè, Ettore Piro, Ingrid Anne Mandy Schierz, Giovanni Corsello
Publikováno v:
Italian Journal of Pediatrics, Vol 48, Iss 1, Pp 1-9 (2022)
Abstract Background Arthrogryposis multiplex congenita (AMC) is a group of clinically and etiologically heterogeneous conditions, characterized by prenatal onset contractures affecting two or more joints. Its incidence is about 1 in 3000 live births.
Externí odkaz:
https://doaj.org/article/25eda517237a47bca6a21e2614871995
Autor:
Ingrid Anne Mandy Schierz, Salvatore Amoroso, Vincenzo Antona, Mario Giuffrè, Ettore Piro, Gregorio Serra, Giovanni Corsello
Publikováno v:
Italian Journal of Pediatrics, Vol 48, Iss 1, Pp 1-6 (2022)
Abstract Background Congenital maxillomandibular syngnathia is a rare craniofacial anomaly leading to difficulties in feeding, breathing and ability to thrive. The fusion may consist of soft tissue union (synechiae) to hard tissue union. Isolated cas
Externí odkaz:
https://doaj.org/article/06de9f7df0744dd9abd37da243b23d30
Autor:
Gregorio Serra, Sofia Felice, Vincenzo Antona, Maria Rita Di Pace, Mario Giuffrè, Ettore Piro, Giovanni Corsello
Publikováno v:
Italian Journal of Pediatrics, Vol 48, Iss 1, Pp 1-6 (2022)
Abstract Background Cardio-facio-cutaneous syndrome (CFCS) belongs to RASopathies, a group of conditions caused by mutations in genes encoding proteins of the rat sarcoma/mitogen-activated protein kinase (RAS/MAPK) pathway. It is a rare syndrome, wit
Externí odkaz:
https://doaj.org/article/f4c0874902d042b1b136740229de5995