Giuffrè M - Search Results

1

Semi-automatic volumetric segmentation of the upper airways in patients with pierre robin sequence.

Salerno S, Gagliardo C, Vitabile S, Militello C, La Tona G, Giuffrè M, Lo Casto A, Midiri M. Salerno S, et al. Among authors: giuffre m. Neuroradiol J. 2014 Sep;27(4):487-94. doi: 10.15274/NRJ-2014-10067. Epub 2014 Aug 29. Neuroradiol J. 2014. PMID: 25196625 Free PMC article.

2

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.

Serra G, Antona V, Giuffrè M, Piro E, Salerno S, Schierz IAM, Corsello G. Serra G, et al. Among authors: giuffre m. Ital J Pediatr. 2022 Mar 4;48(1):38. doi: 10.1186/s13052-022-01232-7. Ital J Pediatr. 2022. PMID: 35246213 Free PMC article.

3

Congenital syphilis in a preterm newborn with gastrointestinal disorders and postnatal growth restriction.

Serra G, Carta M, Di Pace MR, La Sala E, Piro E, Salerno S, Schierz IAM, Vassallo A, Giuffrè M, Corsello G. Serra G, et al. Among authors: giuffre m. Ital J Pediatr. 2022 Dec 29;48(1):205. doi: 10.1186/s13052-022-01404-5. Ital J Pediatr. 2022. PMID: 36581899 Free PMC article.

4

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.

Serra G, Antona V, Di Pace MR, Giuffrè M, Morgante G, Piro E, Pirrello R, Salerno S, Schierz IAM, Verde V, Corsello G. Serra G, et al. Among authors: giuffre m. Ital J Pediatr. 2022 Dec 29;48(1):206. doi: 10.1186/s13052-022-01403-6. Ital J Pediatr. 2022. PMID: 36581928 Free PMC article.

5

Report and follow-up on two new patients with congenital mesoblastic nephroma.

Serra G, Cimador M, Giuffrè M, Insinga V, Montante C, Pensabene M, Piro E, Salerno S, Schierz IAM, Corsello G. Serra G, et al. Among authors: giuffre m. Ital J Pediatr. 2023 Sep 19;49(1):124. doi: 10.1186/s13052-023-01523-7. Ital J Pediatr. 2023. PMID: 37726782 Free PMC article.

6

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

Serra G, Antona V, Insinga V, Morgante G, Vassallo A, Placa S, Piro E, Salerno S, Schierz IAM, Gitto E, Giuffrè M, Corsello G. Serra G, et al. Among authors: giuffre m. Ital J Pediatr. 2024 Apr 14;50(1):67. doi: 10.1186/s13052-024-01632-x. Ital J Pediatr. 2024. PMID: 38616285 Free PMC article.

7

New syndrome: autosomal dominant microcephaly and radio-ulnar synostosis.

Giuffrè L, Corsello G, Giuffrè M, Piccione M, Albanese A. Giuffrè L, et al. Among authors: giuffre m. Am J Med Genet. 1994 Jul 1;51(3):266-9. doi: 10.1002/ajmg.1320510319. Am J Med Genet. 1994. PMID: 8074157

8

Autosomal recessive severe dwarfism in a Sicilian girl: a new form of osteodysplastic primordial dwarfism?

Corsello G, Albanese A, Piccione M, Giuffrè M, Opitz JM. Corsello G, et al. Among authors: giuffre m. Am J Med Genet. 1996 Dec 18;66(3):265-8. doi: 10.1002/(SICI)1096-8628(19961218)66:3<265::AID-AJMG5>3.0.CO;2-O. Am J Med Genet. 1996. PMID: 8985484

9

Osteodysplastic primordial dwarfism (ODPD): notes on brain imaging.

Corsello G, Giuffrè M. Corsello G, et al. Among authors: giuffre m. Am J Med Genet. 1998 Oct 30;80(1):90-1. Am J Med Genet. 1998. PMID: 9800914 No abstract available.

10

Aminoacid profile and oxidative status in children affected by Down syndrome before and after supplementary nutritional treatment.

Ciaccio M, Piccione M, Giuffrè M, Macaione V, Vocca L, Bono A, Corsello G. Ciaccio M, et al. Among authors: giuffre m. Ital J Biochem. 2003 Jun;52(2):72-9. Ital J Biochem. 2003. PMID: 14677423

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