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Genetic defects of the CYP21A2 gene in girls with premature adrenarche.
Skordis N, Shammas C, Phedonos AA, Kyriakou A, Toumba M, Neocleous V, Phylactou LA. Skordis N, et al. Among authors: neocleous v. J Endocrinol Invest. 2015 May;38(5):535-9. doi: 10.1007/s40618-014-0223-1. Epub 2014 Dec 7. J Endocrinol Invest. 2015. PMID: 25481255
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: neocleous v. 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.
Developing and evaluating rare disease educational materials co-created by expert clinicians and patients: the paradigm of congenital hypogonadotropic hypogonadism.
COST Action BM1105; Badiu C, Bonomi M, Borshchevsky I, Cools M, Craen M, Ghervan C, Hauschild M, Hershkovitz E, Hrabovszky E, Juul A, Kim SH, Kumanov P, Lecumberri B, Lemos MC, Neocleous V, Niedziela M, Djurdjevic SP, Persani L, Phan-Hug F, Pignatelli D, Pitteloud N, Popovic V, Quinton R, Skordis N, Smith N, Stefanija MA, Xu C, Young J, Dwyer AA. COST Action BM1105, et al. Among authors: neocleous v. Orphanet J Rare Dis. 2017 Mar 20;12(1):57. doi: 10.1186/s13023-017-0608-2. Orphanet J Rare Dis. 2017. PMID: 28320476 Free PMC article.
46,XY Disorder of Sex Development due to 17-Beta Hydroxysteroid Dehydrogenase Type 3 Deficiency in an Infant of Greek Origin.
Galli-Tsinopoulou A, Serbis A, Kotanidou EP, Litou E, Dokousli V, Mouzaki K, Fanis P, Neocleous V, Skordis N. Galli-Tsinopoulou A, et al. Among authors: neocleous v. J Clin Res Pediatr Endocrinol. 2018 Mar 1;10(1):74-78. doi: 10.4274/jcrpe.4829. Epub 2017 Jul 24. J Clin Res Pediatr Endocrinol. 2018. PMID: 28739554 Free PMC article.
72 results