237 results on '"Serra, Gregorio"'
Search Results
2. Increased adherence to influenza vaccination among Palermo family pediatricians: a study on safety and compliance of qLAIV vaccination
3. Carnitine palmitoyltransferase II (CPT II) deficiency responsible for refractory cardiac arrhythmias, acute multiorgan failure and early fatal outcome
4. Report and follow-up on two new patients with congenital mesoblastic nephroma
5. 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
6. Follow-Up to Ensure Continuity of Care and Support Preventive Care
7. Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome
8. Cutis verticis gyrata and Noonan syndrome: report of two cases with pathogenetic variant in SOS1 gene
9. 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
10. 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
11. Quality of life improving after propranolol treatment in patients with Infantile Hemangiomas
12. Novel de novo missense mutation in the interferon regulatory factor 6 gene in an Italian infant with IRF6-related disorder
13. Distal Arthrogryposis type 5 in an Italian family due to an autosomal dominant gain-of-function mutation of the PIEZO2 gene
14. Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis
15. Congenital syphilis in a preterm newborn with gastrointestinal disorders and postnatal growth restriction
16. 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
17. Cardio-facio-cutaneous syndrome and gastrointestinal defects: report on a newborn with 19p13.3 deletion including the MAP 2 K2 gene
18. KBG syndrome: report and follow-up on three unrelated patients observed at different ages
19. Group B streptococcus colonization in pregnancy and neonatal outcomes: a three-year monocentric retrospective study during and after the COVID-19 pandemic
20. Intraoperative ultrasound-assisted endoscopic treatment of primary intermediate and high-grade vesicoureteral reflux in children in a long-term follow-up
21. Novel SCNN1A gene splicing-site mutation causing autosomal recessive pseudohypoaldosteronism type 1 (PHA1) in two Italian patients belonging to the same small town
22. The social role of pediatrics in the past and present times
23. 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
24. Manifestazioni cutanee anulari e lupus eritematoso neonatale
25. Infant developmental profile of Crisponi syndrome due to compound heterozygosity for CRLF1 deletion
26. Lo spettro dei disordini feto-alcolici: una guida per il pediatra
27. Autosomal recessive polycystic kidney disease: case report of a newborn with rare PKHD1 mutation, rapid renal enlargement and early fatal outcome
28. Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: case report of an Italian patient
29. Neonatal hyperinsulinemic hypoglycemia: case report of kabuki syndrome due to a novel KMT2D splicing-site mutation
30. Growth patterns and associated risk factors of congenital malformations in twins
31. Neonatal ten-year retrospective study on neural tube defects in a second level University Hospital
32. Penile Length Assessment of Children Treated for Primary Buried Penis: Can Satisfying Penile Growth Always Be Achieved?
33. Useless and limits of Postmortem CT (PMCT) in a complex case of preterm infant murder
34. Perinatal and newborn care in a two years retrospective study in a first level peripheral hospital in Sicily (Italy)
35. NF1 microdeletion syndrome: case report of two new patients
36. Safety of Rotavirus Vaccination in Preterm Infants Admitted in Neonatal Intensive Care Units in Sicily, Italy: A Multicenter Observational Study
37. Report and follow-up on two new patients with Congenital Mesoblastic Nephroma
38. Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1
39. 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
40. Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome
41. Quando l’amnios si rompe troppo presto e… da solo
42. Necrotizing enterocolitis in the preterm: newborns medical and nutritional Management in a Single-Center Study
43. Smartphone use and addiction during the coronavirus disease 2019 (COVID-19) pandemic: cohort study on 184 Italian children and adolescents
44. Jacobsen syndrome and neonatal bleeding: report on two unrelated patients
45. Lesioni cutanee stellate e simmetriche in un gemello “rimasto solo”
46. Lesioni cutanee stellate e simmetriche in un gemello “rimasto solo”
47. 2q13 microdeletion syndrome: Report on a newborn with additional features expanding the phenotype
48. Novel SCNN1A Gene Splicing-site Mutation Causing Autosomal Recessive Pseudohypoaldosteronism type 1 (PHA1) in two Italian Patients Belonging to the Same Small Town
49. Il neonato che “sa di sale”
50. Recommendations on the first communication of genetic disease and malformation syndrome diagnosis: consensus issued by 6 Italian Scientific Societies and 4 Parents’ Associations
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