| 2024 |
Manifestazioni cutanee anulari e lupus eritematoso neonatale |
Articolo in rivista |
Vai |
| 2023 |
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 |
Articolo in rivista |
Vai |
| 2023 |
Lo spettro dei disordini feto-alcolici: una guida
per il pediatra |
Articolo in rivista |
Vai |
| 2023 |
Penile Length Assessment of Children Treated for Primary Buried Penis: Can Satisfying Penile Growth Always Be Achieved? |
Articolo in rivista |
Vai |
| 2023 |
Useless and limits of Postmortem CT (PMCT) in a complex case of preterm infant murder |
Articolo in rivista |
Vai |
| 2023 |
Safety of Rotavirus Vaccination in Preterm Infants Admitted in Neonatal Intensive Care Units in Sicily, Italy: A Multicenter Observational Study |
Articolo in rivista |
Vai |
| 2023 |
Intraoperative ultrasound-assisted endoscopic treatment of primary intermediate and high-grade vesicoureteral reflux in children in a long-term follow-up |
Articolo in rivista |
Vai |
| 2023 |
Penile Length Assessment of Children Treated for Primary Buried Penis: Can Satisfying Penile Growth Always Be Achieved? |
Articolo in rivista |
Vai |
| 2023 |
Report and follow-up on two new patients with congenital mesoblastic nephroma |
Articolo in rivista |
Vai |
| 2023 |
La Bioetica sul campo: una sfida per il neonatologo e il pediatra |
Articolo in rivista |
Vai |
| 2023 |
Follow-Up to Ensure Continuity of Care and Support Preventive Care |
Capitolo o Saggio |
Vai |
| 2022 |
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 |
Articolo in rivista |
Vai |
| 2022 |
Congenital syphilis in a preterm newborn with gastrointestinal disorders and postnatal growth restriction |
Articolo in rivista |
Vai |
| 2022 |
Quando l’amnios si rompe troppo presto e… da solo |
Articolo in rivista |
Vai |
| 2022 |
Cardio-facio-cutaneous syndrome and gastrointestinal defects: report on a newborn with 19p13.3 deletion including the MAP 2K2 gene |
Articolo in rivista |
Vai |
| 2022 |
Cutis verticis gyrata and Noonan syndrome: report of two cases with pathogenetic variant in SOS1 gene |
Articolo in rivista |
Vai |
| 2022 |
Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis |
Articolo in rivista |
Vai |
| 2022 |
Novel de novo missense mutation in the interferon regulatory factor 6 gene in an Italian infant with IRF6-related disorder |
Articolo in rivista |
Vai |
| 2022 |
Quality of life improving after propranolol treatment in patients with Infantile Hemangiomas |
Articolo in rivista |
Vai |
| 2022 |
Distal Arthrogryposis type 5 in an Italian family due to an autosomal dominant gain-of-function mutation of the PIEZO2 gene |
Articolo in rivista |
Vai |
| 2022 |
Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome |
Articolo in rivista |
Vai |
| 2022 |
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 |
Articolo in rivista |
Vai |
| 2022 |
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 |
Articolo in rivista |
Vai |
| 2021 |
Lesioni cutanee stellate e simmetriche in un gemello “rimasto solo” |
Articolo in rivista |
Vai |
| 2021 |
Novel SCNN1A gene splicing-site mutation causing autosomal recessive pseudohypoaldosteronism type 1 (PHA1) in two Italian patients belonging to the same small town |
Articolo in rivista |
Vai |
| 2021 |
THE “SALT-TASTING” NEWBORN |
Articolo in rivista |
Vai |
| 2021 |
Il neonato che “sa di sale” |
Articolo in rivista |
Vai |
| 2021 |
Necrotizing enterocolitis in the preterm: newborns medical and nutritional Management in a Single-Center Study |
Articolo in rivista |
Vai |
| 2021 |
The social role of pediatrics in the past and present times |
Lettera |
Vai |
| 2021 |
2q13 microdeletion syndrome: Report on a newborn with additional features expanding the phenotype |
Articolo in rivista |
Vai |
| 2021 |
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 |
Articolo in rivista |
Vai |
| 2021 |
Smartphone use and addiction during the coronavirus disease 2019 (COVID-19) pandemic: cohort study on 184 Italian children and adolescents |
Articolo in rivista |
Vai |
| 2021 |
Recommendations for neonatologists and pediatricians working in first level birthing centers on the first communication of genetic disease and malformation syndrome diagnosis: consensus issued by 6 Italian scientific societies and 4 parents’ associations |
Articolo in rivista |
Vai |
| 2021 |
Jacobsen syndrome and neonatal bleeding: report on two unrelated patients |
Articolo in rivista |
Vai |
| 2020 |
Autosomal recessive polycystic kidney disease: case report of a newborn with rare PKHD1 mutation, rapid renal enlargement and early fatal outcome |
Articolo in rivista |
Vai |
| 2020 |
Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: Case report of an Italian patient |
Articolo in rivista |
Vai |
| 2020 |
Neonatal hyperinsulinemic hypoglycemia: Case report of kabuki syndrome due to a novel KMT2D splicing-site mutation |
Articolo in rivista |
Vai |
| 2020 |
LARGE FOR GESTATIONAL AGE, MACROSOMIA, OVERGROWTH: AN UPDATE ON
DEFINITIONS AND DETERMINANTS |
Articolo in rivista |
Vai |
| 2020 |
Infant developmental profile of Crisponi syndrome due to compound heterozygosity for CRLF1 deletion |
Articolo in rivista |
Vai |
| 2020 |
The child with overgrowth between clinical variability and genetic heterogeneity |
Articolo in rivista |
Vai |
| 2020 |
Neonatal ten-year retrospective study on neural tube defects in a second level University Hospital |
Articolo in rivista |
Vai |
| 2020 |
Growth patterns and associated risk factors of congenital malformations in twins |
Articolo in rivista |
Vai |
| 2020 |
MACROCEPHALY FROM A NORMAL VARIANT TO A THREATENING CONDITION. A SINGLE CENTER RETROSPECTIVE STUDY ON 189 SUBJECTS |
Articolo in rivista |
Vai |
| 2019 |
NF1 microdeletion syndrome: Case report of two new patients |
Articolo in rivista |
Vai |
| 2019 |
Standard and Specialized Infant Formulas in Europe: Making, Marketing, and Health Outcomes |
Review essay (rassegna critica) |
Vai |
| 2019 |
Perinatal and newborn care in a two years retrospective study in a first level peripheral hospital in Sicily (Italy) |
Articolo in rivista |
Vai |
| 2019 |
Fetal growth restriction: A growth pattern with fetal, neonatal and long-term consequences |
Review essay (rassegna critica) |
Vai |
| 2019 |
The vaccinaTion & Hpv Knowledge (THinK) questionnaire: a reliability and validity study on a sample of women living in Sicily (southern-Italy) |
Articolo in rivista |
Vai |
| 2018 |
Esophageal atresia and Beckwith–Wiedemann syndrome in one of the naturally conceived discordant newborn twins: first report |
Articolo in rivista |
Vai |
| 2018 |
Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1 |
Articolo in rivista |
Vai |
| 2017 |
IPOGLICEMIA NEONATALE: RILIEVI EPIDEMIOLOGICI IN UN CAMPIONE DI NEONATI RICOVERATI (2012-2017) |
Poster non pubblicato |
Vai |
| 2016 |
Portal Vein Thrombosis in a Preterm Newborn with Mutation of the MTHFR and PAI-1 Genes and Sepsis by Candida parapsilosis |
Articolo in rivista |
Vai |
| 2015 |
Antimicrobial therapy in neonatal intensive care unit |
Articolo in rivista |
Vai |
| 2013 |
MALFORMATIONS OF CENTRAL NERVOUS SYSTEM: GENERAL ISSUES |
Articolo in rivista |
Vai |
| 2013 |
Acute pancreatitis in children and rotavirus infection. Description of a case and minireview |
Articolo in rivista |
Vai |
| 2013 |
Neonatal osteomyelitis of the talus due to methicillin-resistant Staphylococcus epidermidis |
Articolo in rivista |
Vai |
| 2012 |
A new mutation in EDA gene in X-linked hypohidrotic ectodermal dysplasia associated with keratoconus. |
Articolo in rivista |
Vai |
| 2012 |
14q13.1-21.1 Deletion Encompassing the HPE8 Locus in an Adolescent With Intellectual Disability and Bilateral Microphthalmia, But Without Holoprosencephaly |
Articolo in rivista |
Vai |
| 2009 |
ADOLESCENTE CON DATTILITE DELLE MANI DA INFEZIONE DA HELICOBACTER PYLORI |
eedings |
Vai |
