Detalhe da pesquisa
1.
Portal Vein Thrombosis in a Preterm Newborn with Mutation of the MTHFR and PAI-1 Genes and Sepsis by Candida parapsilosis.
Am J Perinatol
; 33(11): 1099-103, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27603544
2.
Intraoperative ultrasound-assisted endoscopic treatment of primary intermediate and high-grade vesicoureteral reflux in children in a long-term follow-up.
J Pediatr Urol
; 20(1): 132.e1-132.e11, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37880015
3.
Carnitine palmitoyltransferase II (CPT II) deficiency responsible for refractory cardiac arrhythmias, acute multiorgan failure and early fatal outcome.
Ital J Pediatr
; 50(1): 67, 2024 Apr 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38616285
4.
Acute pancreatitis in children and rotavirus infection. Description of a case and minireview.
New Microbiol
; 36(1): 97-101, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23435823
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.
Ital J Pediatr
; 49(1): 17, 2023 Feb 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36759911
6.
Useless and limits of Postmortem CT (PMCT) in a complex case of preterm infant murder.
Forensic Sci Int
; 347: 111687, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37062141
7.
Report and follow-up on two new patients with congenital mesoblastic nephroma.
Ital J Pediatr
; 49(1): 124, 2023 Sep 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37726782
8.
Penile Length Assessment of Children Treated for Primary Buried Penis: Can Satisfying Penile Growth Always Be Achieved?
Children (Basel)
; 10(7)2023 Jul 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37508751
9.
Safety of Rotavirus Vaccination in Preterm Infants Admitted in Neonatal Intensive Care Units in Sicily, Italy: A Multicenter Observational Study.
Vaccines (Basel)
; 11(4)2023 Mar 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37112630
10.
14q13.1-21.1 deletion encompassing the HPE8 locus in an adolescent with intellectual disability and bilateral microphthalmia, but without holoprosencephaly.
Am J Med Genet A
; 158A(6): 1427-33, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22581785
11.
Cardio-facio-cutaneous syndrome and gastrointestinal defects: report on a newborn with 19p13.3 deletion including the MAP 2 K2 gene.
Ital J Pediatr
; 48(1): 65, 2022 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35509048
12.
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.
Ital J Pediatr
; 48(1): 38, 2022 Mar 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35246213
13.
Novel de novo missense mutation in the interferon regulatory factor 6 gene in an Italian infant with IRF6-related disorder.
Ital J Pediatr
; 48(1): 132, 2022 Jul 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35906647
14.
Distal Arthrogryposis type 5 in an Italian family due to an autosomal dominant gain-of-function mutation of the PIEZO2 gene.
Ital J Pediatr
; 48(1): 133, 2022 Jul 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35906671
15.
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.
Ital J Pediatr
; 48(1): 19, 2022 Feb 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35115028
16.
Cutis verticis gyrata and Noonan syndrome: report of two cases with pathogenetic variant in SOS1 gene.
Ital J Pediatr
; 48(1): 152, 2022 Aug 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35986401
17.
Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis.
Ital J Pediatr
; 48(1): 145, 2022 Aug 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35964051
18.
Quality of life improving after propranolol treatment in patients with Infantile Hemangiomas.
Ital J Pediatr
; 48(1): 140, 2022 Aug 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35927685
19.
Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome.
Ital J Pediatr
; 48(1): 170, 2022 Sep 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36076277
20.
Congenital syphilis in a preterm newborn with gastrointestinal disorders and postnatal growth restriction.
Ital J Pediatr
; 48(1): 205, 2022 Dec 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-36581899