Search Results - "Neocleous V"

Cystic fibrosis mutational spectrum and genotypic/phenotypic features in Greek-Cypriots, with emphasis on dehydration as presenting symptom.

Authors: Yiallouros, P. K. Neocleous, V. Zeniou, M et al.

Source: Clinical Genetics. Mar2007, Vol. 71 Issue 3, p290-292. 3p. 2 Charts.

High carrier frequency of 21-hydroxylase deficiency in Cyprus.

Authors: Phedonos, AAP Shammas, C Skordis, N et al.

Source: Clinical Genetics. Dec2013, Vol. 84 Issue 6, p585-588. 4p.

WS03.4 Notable cystic fibrosis cases of Greek-Cypriot originwith rare or unique CFTR genotypes.

Authors: Matthaiou, A.M. Anagnostopoulou, P. Kouis, P. et al.

Source: Journal of Cystic Fibrosis. 2021 Supplement, Vol. 20, pS6-S6. 1p.

Congenital Adrenal Hyperplasia in the Mediterranean: A Concise Overview.

Authors: Fanis P Skordis N Tomazou M et al.

Source: Pharmaceuticals (Basel, Switzerland) [Pharmaceuticals (Basel)] 2026 May 08; Vol. 19 (5). Date of Electronic Publication: 2026 May 08.

Publication Type: Journal Article; Review

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101238453 Publication Model: Electronic Cited Medium: Print ISSN: 1424-8247 (Print) Linking ISSN: 14248247 NLM ISO Abbreviation: Pharmaceuticals (Basel) Subsets: PubMed not MEDLINE

Co-segregation of the c.489+3A>G variant with p.Cys1400Ter pathogenic CFTR mutation in Cyprus: prevalence and clinical implications.

Authors: Yiallouros PK Anagnostopoulou P Kouis P et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2025 Apr 29; Vol. 20 (1), pp. 205. Date of Electronic Publication: 2025 Apr 29.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Genetic diagnosis of endocrine disorders in Cyprus through the Cyprus Institute of Neurology and Genetics: an ENDO-ERN Reference Center.

Authors: Neocleous V Fanis P Toumba M et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Apr 18; Vol. 19 (1), pp. 167. Date of Electronic Publication: 2024 Apr 18.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

A novel pathogenic variant in ZNF462 gene associated with Weiss-Kruszka syndrome and systemic lupus erythematosus.

Authors: Constantinou M Lampi M Parperis K et al.

Source: Rheumatology (Oxford, England) [Rheumatology (Oxford)] 2023 Aug 01; Vol. 62 (8), pp. e249-e250.

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 100883501 Publication Model: Print Cited Medium: Internet ISSN: 1462-0332 (Electronic) Linking ISSN: 14620324 NLM ISO Abbreviation: Rheumatology (Oxford) Subsets: MEDLINE

The pathogenic p.Gln319Ter variant is not causing congenital adrenal hyperplasia when inherited in one of the duplicated CYP21A2 genes.

Authors: Fanis P Skordis N Toumba M et al.

Source: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2023 May 31; Vol. 14, pp. 1156616. Date of Electronic Publication: 2023 May 31 (Print Publication: 2023).

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101555782 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2392 (Print) Linking ISSN: 16642392 NLM ISO Abbreviation: Front Endocrinol (Lausanne) Subsets: MEDLINE

Identification of puberty related miRNAs in the hypothalamus of female mice.

Authors: Fanis P Morrou M Tomazou M et al.

Source: Molecular and cellular endocrinology [Mol Cell Endocrinol] 2025 Mar 01; Vol. 598, pp. 112468. Date of Electronic Publication: 2025 Jan 20.

Publication Type: Journal Article

Journal Info: Publisher: North Holland Publishing Country of Publication: Ireland NLM ID: 7500844 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-8057 (Electronic) Linking ISSN: 03037207 NLM ISO Abbreviation: Mol Cell Endocrinol Subsets: MEDLINE

Prenatal dexamethasone treatment for classic 21-hydroxylase deficiency in Europe.

Authors: Nowotny H Neumann U Tardy-Guidollet V et al.

Source: European journal of endocrinology [Eur J Endocrinol] 2022 Mar 23; Vol. 186 (5), pp. K17-K24. Date of Electronic Publication: 2022 Mar 23.

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 9423848 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-683X (Electronic) Linking ISSN: 08044643 NLM ISO Abbreviation: Eur J Endocrinol Subsets: MEDLINE

Molecular modelling of novel ADCY3 variant predicts a molecular target for tackling obesity.

Authors: Toumba M Fanis P Vlachakis D et al.

Source: International journal of molecular medicine [Int J Mol Med] 2022 Jan; Vol. 49 (1). Date of Electronic Publication: 2021 Nov 25.

Publication Type: Journal Article

Journal Info: Publisher: D.A. Spandidos Country of Publication: Greece NLM ID: 9810955 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1791-244X (Electronic) Linking ISSN: 11073756 NLM ISO Abbreviation: Int J Mol Med Subsets: MEDLINE

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.

Authors: Yiallouros PK Matthaiou AΜ Anagnostopoulou P et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Oct 02; Vol. 16 (1), pp. 409. Date of Electronic Publication: 2021 Oct 02.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Pathogenic and Low-Frequency Variants in Children With Central Precocious Puberty.

Authors: Neocleous V Fanis P Toumba M et al.

Source: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2021 Sep 24; Vol. 12, pp. 745048. Date of Electronic Publication: 2021 Sep 24 (Print Publication: 2021).

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101555782 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2392 (Print) Linking ISSN: 16642392 NLM ISO Abbreviation: Front Endocrinol (Lausanne) Subsets: MEDLINE

Late diagnosis of 3β-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.

Authors: Fanis P Neocleous V Kosta K et al.

Source: Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2020 Nov 11; Vol. 34 (1), pp. 131-136. Date of Electronic Publication: 2020 Nov 11 (Print Publication: 2021).

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Walter de Gruyter Country of Publication: Germany NLM ID: 9508900 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 2191-0251 (Electronic) Linking ISSN: 0334018X NLM ISO Abbreviation: J Pediatr Endocrinol Metab Subsets: MEDLINE

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.

Authors: Neocleous V Fanis P Toumba M et al.

Source: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2020 Aug 28; Vol. 11, pp. 626. Date of Electronic Publication: 2020 Aug 28 (Print Publication: 2020).

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101555782 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2392 (Print) Linking ISSN: 16642392 NLM ISO Abbreviation: Front Endocrinol (Lausanne) Subsets: MEDLINE

Neurophysiological and Genetic Findings in Patients With Juvenile Myoclonic Epilepsy.

Authors: Stefani S Kousiappa I Nicolaou N et al.

Source: Frontiers in integrative neuroscience [Front Integr Neurosci] 2020 Aug 20; Vol. 14, pp. 45. Date of Electronic Publication: 2020 Aug 20 (Print Publication: 2020).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101477950 Publication Model: eCollection Cited Medium: Print ISSN: 1662-5145 (Print) Linking ISSN: 16625145 NLM ISO Abbreviation: Front Integr Neurosci Subsets: PubMed not MEDLINE

Gonadotropin-Releasing Hormone Receptor (GnRHR) and Hypogonadotropic Hypogonadism.

Authors: Fanis P Neocleous V Papapetrou I et al.

Source: International journal of molecular sciences [Int J Mol Sci] 2023 Nov 04; Vol. 24 (21). Date of Electronic Publication: 2023 Nov 04.

Publication Type: Journal Article; Review

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

Reduced serum concentrations of biomarkers reflecting Leydig and Sertoli cell function in male patients with congenital adrenal hyperplasia.

Authors: Johannsen TH Albrethsen J Neocleous V et al.

Source: Endocrine connections [Endocr Connect] 2023 Jul 14; Vol. 12 (8). Date of Electronic Publication: 2023 Jul 14.

Publication Type: Journal Article

Journal Info: Publisher: BioScientifica Country of Publication: England NLM ID: 101598413 Publication Model: Electronic Cited Medium: Print ISSN: 2049-3614 (Print) Linking ISSN: 20493614 NLM ISO Abbreviation: Endocr Connect Subsets: PubMed not MEDLINE

Central Precocious Puberty Caused by Novel Mutations in the Promoter and 5'-UTR Region of the Imprinted MKRN3 Gene.

Authors: Fanis P Skordis N Toumba M et al.

Source: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2019 Oct 04; Vol. 10, pp. 677. Date of Electronic Publication: 2019 Oct 04 (Print Publication: 2019).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101555782 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2392 (Print) Linking ISSN: 16642392 NLM ISO Abbreviation: Front Endocrinol (Lausanne) Subsets: PubMed not MEDLINE

RET Proto-Oncogene Variants in Patients with Medullary Thyroid Carcinoma from the Mediterranean Basin: A Brief Report.

Authors: Neocleous V Fanis P Frangos S et al.

Source: Life (Basel, Switzerland) [Life (Basel)] 2023 Jun 06; Vol. 13 (6). Date of Electronic Publication: 2023 Jun 06.

Publication Type: Journal Article

Journal Info: Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101580444 Publication Model: Electronic Cited Medium: Print ISSN: 2075-1729 (Print) Linking ISSN: 20751729 NLM ISO Abbreviation: Life (Basel) Subsets: PubMed not MEDLINE