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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.

Autor: Serra G; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties 'G. D'Alessandro', University of Palermo, Palermo, Italy. gregorio.serra@unipa.it., Antona V; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties 'G. D'Alessandro', University of Palermo, Palermo, Italy., Giuffré M; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties 'G. D'Alessandro', University of Palermo, Palermo, Italy., Li Pomi F; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties 'G. D'Alessandro', University of Palermo, Palermo, Italy., Lo Scalzo L; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties 'G. D'Alessandro', University of Palermo, Palermo, Italy., Piro E; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties 'G. D'Alessandro', University of Palermo, Palermo, Italy., Schierz IAM; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties 'G. D'Alessandro', University of Palermo, Palermo, Italy., Corsello G; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties 'G. D'Alessandro', University of Palermo, Palermo, Italy.

Publikováno v: Italian journal of pediatrics [Ital J Pediatr] 2021 Sep 28; Vol. 47 (1), pp. 196. Date of Electronic Publication: 2021 Sep 28.

Novel homozygous frameshift insertion variant in the last exon of the EDARADD causing hypohidrotic ectodermal dysplasia in two siblings: case report and review of the literature.

Autor: Kablan, Ahmet^1,2 (AUTHOR) kablanmd@gmail.com, Tasdelen, Elifcan^1,2 (AUTHOR)

Publikováno v: Italian Journal of Pediatrics. 6/5/2024, Vol. 50 Issue 1, p1-5. 5p.

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

Autor: Serra, Gregorio¹ (AUTHOR) gregorio.serra@unipa.it, Antona, Vincenzo¹ (AUTHOR), Insinga, Vincenzo¹ (AUTHOR), Morgante, Giusy¹ (AUTHOR), Vassallo, Alessia¹ (AUTHOR), Placa, Simona La¹ (AUTHOR), Piro, Ettore¹ (AUTHOR), Salerno, Sergio¹ (AUTHOR), Schierz, Ingrid Anne Mandy¹ (AUTHOR), Gitto, Eloisa² (AUTHOR), Giuffrè, Mario¹ (AUTHOR), Corsello, Giovanni¹ (AUTHOR)

Publikováno v: Italian Journal of Pediatrics. 4/14/2024, Vol. 50, p1-7. 7p.

Η επίδραση της πανδημίας Covid-19 στους παράγοντες κινδύνου για ανάπτυξη Σακχαρώδη Διαβήτη τύπου 2.

Autor: Νικολέτα, Ντελή¹ (NURSE), Χρυσούλα, Τσίου², Ευγενία, Βλάχου², Γεωργία, Γερογιάννη³, Χρήστος, Κωνσταντής⁴, Σωτήριος, Πλακάς⁵ skplakas@uniwa.gr

Publikováno v: Rostrum of Asclepius / Vima tou Asklipiou. Apr-Jun2024, Vol. 23 Issue 2, p213-232. 20p.