Detalhe da pesquisa
1.
Gonadotropin-Releasing Hormone Receptor (GnRHR) and Hypogonadotropic Hypogonadism.
Int J Mol Sci
; 24(21)2023 Nov 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37958948
2.
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
3.
In silico analysis of a novel MKRN3 missense mutation in familial central precocious puberty.
Clin Endocrinol (Oxf)
; 84(1): 80-4, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26173472
4.
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
5.
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
6.
Inherited metabolic disorders in Cyprus.
Mol Genet Metab Rep
; 39: 101083, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38694234
7.
FoSTeS, MMBIR and NAHR at the human proximal Xp region and the mechanisms of human Xq isochromosome formation.
Hum Mol Genet
; 20(10): 1925-36, 2011 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21349920
8.
Osteoporosis in thalassemia major: an update and the I-CET 2013 recommendations for surveillance and treatment.
Pediatr Endocrinol Rev
; 11(2): 167-80, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24575552
9.
Stress and Growth in Children and Adolescents.
Horm Res Paediatr
; 96(1): 25-33, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-34814153
10.
Salt-wasting congenital adrenal hyperplasia phenotype as a result of the TNXA/TNXB chimera 1 (CAH-X CH-1) and the pathogenic IVS2-13A/C > G in CYP21A2 gene.
Hormones (Athens)
; 22(1): 71-77, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36264454
11.
RET Proto-Oncogene Variants in Patients with Medullary Thyroid Carcinoma from the Mediterranean Basin: A Brief Report.
Life (Basel)
; 13(6)2023 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37374115
12.
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
13.
Seminoma in 46, XY Gonadal Dysgenesis: Rare Presentation and Review of the Literature.
J Clin Res Pediatr Endocrinol
; 2023 Apr 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37074092
14.
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
15.
Methylation status of hypothalamic Mkrn3 promoter across puberty.
Front Endocrinol (Lausanne)
; 13: 1075341, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36714607
16.
KCNJ11 activating mutations cause both transient and permanent neonatal diabetes mellitus in Cypriot patients.
Pediatr Diabetes
; 12(2): 133-7, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21352428
17.
The multifactorial origin of growth failure in thalassaemia.
Pediatr Endocrinol Rev
; 8 Suppl 2: 271-7, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21705977
18.
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
19.
Growth hormone and adrenal response to intramuscular glucagon test and its relationship to IGF-1 production and left ventricular ejection fraction in adult B-thalassemia major patients.
Pediatr Endocrinol Rev
; 8 Suppl 2: 290-4, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21705980
20.
Late diagnosis of 3ß-Hydroxysteroid dehydrogenase deficiency: the pivotal role of gas chromatography-mass spectrometry urinary steroid metabolome analysis and a novel homozygous nonsense mutation in the HSD3B2 gene.
J Pediatr Endocrinol Metab
; 34(1): 131-136, 2021 Jan 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-33180036