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Co-occurrence of Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type 1B: coincidence or common molecular mechanism?
Pignata L, Cecere F, Acquaviva F, D'Angelo E, Cioffi D, Pellino V, Palumbo O, Palumbo P, Carella M, Sparago A, De Brasi D, Cerrato F, Riccio A. Pignata L, et al. Among authors: cioffi d. Front Cell Dev Biol. 2023 Aug 10;11:1237629. doi: 10.3389/fcell.2023.1237629. eCollection 2023. Front Cell Dev Biol. 2023. PMID: 37635873 Free PMC article.
De Novo Large Deletions in the PHEX Gene Caused X-Linked Hypophosphataemic Rickets in Two Italian Female Infants Successfully Treated with Burosumab.
Pecoraro C, Fioretti T, Perruno A, Klain A, Cioffi D, Ambrosio A, Passaro D, Annicchiarico Petruzzelli L, Di Domenico C, de Girolamo D, Vallone S, Cattaneo F, Ammendola R, Esposito G. Pecoraro C, et al. Among authors: cioffi d. Diagnostics (Basel). 2023 Jul 31;13(15):2552. doi: 10.3390/diagnostics13152552. Diagnostics (Basel). 2023. PMID: 37568915 Free PMC article.
Diagnostic issues faced by a rare disease healthcare network during Covid-19 outbreak: data from the Campania Rare Disease Registry.
Limongelli G, Iucolano S, Monda E, Elefante P, De Stasio C, Lubrano I, Caiazza M, Mazzella M, Fimiani F, Galdo M, De Marchi G, Esposito M, Rubino M, Cirillo A, Fusco A, Esposito A, Trama U, Esposito S, Scarano G, Sepe J, Andria G, Orlando V, Menditto E, Chiodini P; Campania Rare Disease Network. Limongelli G, et al. J Public Health (Oxf). 2022 Aug 25;44(3):586-594. doi: 10.1093/pubmed/fdab137. J Public Health (Oxf). 2022. PMID: 33982102 Free PMC article.
60 results