Detalhe da pesquisa
1.
The Spectrum of Genetic Defects in Congenital Adrenal Hyperplasia in the Population of Cyprus: A Retrospective Analysis.
Horm Metab Res
; 51(9): 586-594, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31505704
2.
Familial Mediterranean fever associated with MEFV mutations in a large cohort of Cypriot patients.
Ann Hum Genet
; 79(1): 20-7, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25393764
3.
Estrogen receptor signaling and targets: Bones, breasts and brain (Review).
Mol Med Rep
; 30(2)2024 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-38904201
4.
Genetic diagnosis of endocrine disorders in Cyprus through the Cyprus Institute of Neurology and Genetics: an ENDO-ERN Reference Center.
Orphanet J Rare Dis
; 19(1): 167, 2024 Apr 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38637882
5.
Obesogens in Adolescence: Challenging Aspects and Prevention Strategies.
Children (Basel)
; 11(5)2024 May 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38790597
6.
Stress, Thyroid Dysregulation, and Thyroid Cancer in Children and Adolescents: Proposed Impending Mechanisms.
Horm Res Paediatr
; 96(1): 44-53, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-35385843
7.
The pathogenic p.Gln319Ter variant is not causing congenital adrenal hyperplasia when inherited in one of the duplicated CYP21A2 genes.
Front Endocrinol (Lausanne)
; 14: 1156616, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37324257
8.
Reduced serum concentrations of biomarkers reflecting Leydig and Sertoli cell function in male patients with congenital adrenal hyperplasia.
Endocr Connect
; 12(8)2023 Jul 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37256668
9.
Molecular modelling of novel ADCY3 variant predicts a molecular target for tackling obesity.
Int J Mol Med
; 49(1)2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34821371
10.
Methylation status of hypothalamic Mkrn3 promoter across puberty.
Front Endocrinol (Lausanne)
; 13: 1075341, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36714607
11.
Bone disease in thalassaemia major: recent advances in pathogenesis and clinical aspects.
Pediatr Endocrinol Rev
; 8 Suppl 2: 300-6, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21705982
12.
Microcalcifications without a thyroid nodule as the sole sign of papillary thyroid carcinoma.
Endocrinol Diabetes Metab Case Rep
; 20212021 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34515657
13.
Pathogenic and Low-Frequency Variants in Children With Central Precocious Puberty.
Front Endocrinol (Lausanne)
; 12: 745048, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34630334
14.
GnRH Deficient Patients With Congenital Hypogonadotropic Hypogonadism: Novel Genetic Findings in ANOS1, RNF216, WDR11, FGFR1, CHD7, and POLR3A Genes in a Case Series and Review of the Literature.
Front Endocrinol (Lausanne)
; 11: 626, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32982993
15.
Central Precocious Puberty Caused by Novel Mutations in the Promoter and 5'-UTR Region of the Imprinted MKRN3 Gene.
Front Endocrinol (Lausanne)
; 10: 677, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31636607
16.
46,XY complete gonadal dysgenesis in a familial case with a rare mutation in the desert hedgehog (DHH) gene.
Hormones (Athens)
; 18(3): 315-320, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31240586
17.
Hormonal dysregulation and bones in thalassaemia--an overview.
Pediatr Endocrinol Rev
; 6 Suppl 1: 107-15, 2008 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-19337163
18.
Endocrine complications in patients with Thalassaemia Major.
Pediatr Endocrinol Rev
; 5(2): 642-8, 2007 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-18084158
19.
Variations in the 3'UTR of the CYP21A2 Gene in Heterozygous Females with Hyperandrogenaemia.
Int J Endocrinol
; 2017: 8984365, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28487735
20.
Diagnosis and management of Silver-Russell syndrome: first international consensus statement.
Nat Rev Endocrinol
; 13(2): 105-124, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27585961