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Demographic characteristics, clinical and laboratory features, and the distribution of pathogenic variants in the CFTR gene in the Cypriot cystic fibrosis (CF) population demonstrate the utility of a national CF patient registry.
Yiallouros PK, Matthaiou AΜ, Anagnostopoulou P, Kouis P, Libik M, Adamidi T, Eleftheriou A, Demetriou A, Ioannou P, Tanteles GA, Costi C, Fanis P, Macek M, Neocleous V, Phylactou LA. Yiallouros PK, et al. Among authors: fanis p. Orphanet J Rare Dis. 2021 Oct 2;16(1):409. doi: 10.1186/s13023-021-02049-z. Orphanet J Rare Dis. 2021. PMID: 34600583 Free PMC article.
A novel MKRN3 nonsense mutation causing familial central precocious puberty.
Christoforidis A, Skordis N, Fanis P, Dimitriadou M, Sevastidou M, Phelan MM, Neocleous V, Phylactou LA. Christoforidis A, et al. Among authors: fanis p. Endocrine. 2017 May;56(2):446-449. doi: 10.1007/s12020-017-1232-6. Epub 2017 Jan 28. Endocrine. 2017. PMID: 28132164 No abstract available.
Multiple endocrine neoplasia 2 in Cyprus: evidence for a founder effect.
Fanis P, Skordis N, Frangos S, Christopoulos G, Spanou-Aristidou E, Andreou E, Manoli P, Mavrommatis M, Nicolaou S, Kleanthous M, Cariolou MA, Christophidou-Anastasiadou V, Tanteles GA, Phylactou LA, Neocleous V. Fanis P, et al. J Endocrinol Invest. 2018 Oct;41(10):1149-1157. doi: 10.1007/s40618-018-0841-0. Epub 2018 Feb 2. J Endocrinol Invest. 2018. PMID: 29396759 Free PMC article.
40 results