Sofia Leka-Emiri
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Explore the profile of Sofia Leka-Emiri including associated specialties, affiliations and a list of published articles.
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7
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46
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Recent Articles
1.
Tseretopoulou X, Ali S, Bryce J, Amin N, Atapattu N, Bachega T, et al.
J Endocr Soc
. 2024 Sep;
8(10):bvae145.
PMID: 39258010
Background: It is unclear whether targeted monitoring of acute adrenal insufficiency (AI) related adverse events (AE) such as sick day episodes (SDEs) and hospitalization rate in congenital adrenal hyperplasia (CAH)...
2.
Mouskou S, Leka-Emiri S, Korona A, Mastroyanni S, Manolakos E, Papoulidis I, et al.
Mol Syndromol
. 2023 Jan;
13(5):425-432.
PMID: 36588753
Introduction: Coffin-Siris syndrome (CSS) (MIM #135900) is an extremely rare genetic multisystemic disorder characterized by aplasia or hypoplasia of the upper phalanx of the fifth finger, moderate to severe cognitive...
3.
Leka-Emiri S, Taibi L, Mavroeidi V, Vlachopapadopoulou E, Kafetzi M, Michalacos S, et al.
Sex Dev
. 2021 Oct;
16(1):64-69.
PMID: 34628416
Deficiency of 3β-hydroxysteroid dehydrogenase type 2 (3βHSD2) is a rare type of congenital adrenal hyperplasia (CAH), causing impaired steroid hormone production in both adrenals and gonads. Phenotype ranges, according to...
4.
Mouskou S, Katerelos A, Doulgeraki A, Leka-Emiri S, Manolakos E, Papoulidis I, et al.
Mol Syndromol
. 2021 Jun;
12(3):194-199.
PMID: 34177437
Snyder-Robinson syndrome (SRS) is an extremely rare X-linked intellectual disability syndrome (MRXSSR; MIM #309583). The main clinical features of SRS include psychomotor delay, hypotonia, and asthenic-type body habitus - reduced...
5.
Leka-Emiri S, Petrou V, Manolakos E, Thomaidis L, Fotinou A, Vlachopapadopoulou E, et al.
Mol Syndromol
. 2019 Feb;
9(6):300-305.
PMID: 30800046
To date, 6 cases of 17p13.1 microduplications have been described in the literature. Intellectual disability is the core feature, together with minor facial dysmorphisms and obesity. We describe the first...
6.
Leka-Emiri S, Chrousos G, Kanaka-Gantenbein C
J Endocrinol Invest
. 2017 Mar;
40(8):789-802.
PMID: 28251550
Puberty is a major developmental stage. Damaging mutations, considered as "mistakes of nature", have contributed to the unraveling of the networks implicated in the normal initiation of puberty. Genes involved...
7.
Leka-Emiri S, Louizou E, Kambouris M, Chrousos G, de Roux N, Kanaka-Gantenbein C
Horm Res Paediatr
. 2014 Jan;
81(3):177-81.
PMID: 24434351
Background/aims: Kisspeptin (KISS1)/GPR54 (KISSR) signaling complex and neurokinin B (NKB)/NKB receptor (TACR3) signaling have been proposed as an integral part of the network coordinating GnRH release. GPR54 (KISS1R) and TACR3...