Publications by authors named "Pavlos Fanis"

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Co-segregation of the c.489+3A>G variant with p.Cys1400Ter pathogenic CFTR mutation in Cyprus: prevalence and clinical implications.
Panayiotis K Yiallouros, Pinelopi Anagnostopoulou, Panayiotis Kouis, Andreas Μ Matthaiou, Tonia Adamidi, Pavlos Fanis

Orphanet J Rare Dis· April 2025

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Identification of puberty related miRNAs in the hypothalamus of female mice.
Pavlos Fanis, Maria Morrou, Marios Tomazou, Hend Abdulgadr M Alghol, George M Spyrou

Mol Cell Endocrinol· March 2025

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Genetic diagnosis of endocrine disorders in Cyprus through the Cyprus Institute of Neurology and Genetics: an ENDO-ERN Reference Center.
Vassos Neocleous, Pavlos Fanis, Meropi Toumba, Nicos Skordis, Leonidas A Phylactou

Orphanet J Rare Dis· April 2024

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Gonadotropin-Releasing Hormone Receptor (GnRHR) and Hypogonadotropic Hypogonadism.
Pavlos Fanis, Vassos Neocleous, Irene Papapetrou, Leonidas A Phylactou, Nicos Skordis

Int J Mol Sci· November 2023

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A novel pathogenic variant in ZNF462 gene associated with Weiss-Kruszka syndrome and systemic lupus erythematosus.
Maria Constantinou, Marios Lampi, Konstantinos Parperis, Vassos Neocleous, Pavlos Fanis

Rheumatology (Oxford)· August 2023

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Reduced serum concentrations of biomarkers reflecting Leydig and Sertoli cell function in male patients with congenital adrenal hyperplasia.
Trine Holm Johannsen, Jakob Albrethsen, Vassos Neocleous, Federico Baronio, Martine Cools, Pavlos Fanis

Endocr Connect· July 2023

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The pathogenic p.Gln319Ter variant is not causing congenital adrenal hyperplasia when inherited in one of the duplicated CYP21A2 genes.
Pavlos Fanis, Nicos Skordis, Meropi Toumba, Michalis Picolos, George A Tanteles

Front Endocrinol (Lausanne)· June 2023

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RET Proto-Oncogene Variants in Patients with Medullary Thyroid Carcinoma from the Mediterranean Basin: A Brief Report.
Vassos Neocleous, Pavlos Fanis, Savvas Frangos, Nicos Skordis, Leonidas A Phylactou

Life (Basel)· June 2023

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Editorial: Genetic, epigenetic and molecular landscaping of puberty.
Sasha R Howard, Pavlos Fanis, Nicolas C Nicolaides, Anna Grandone

Front Endocrinol (Lausanne)· April 2023

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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.
Pavlos Fanis, Nicos Skordis, Leonidas A Phylactou, Vassos Neocleous

Hormones (Athens)· March 2023

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Methylation status of hypothalamic promoter across puberty.
Pavlos Fanis, Maria Morrou, Marios Tomazou, Kyriaki Michailidou, George M Spyrou

Front Endocrinol (Lausanne)· February 2023

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Pathogenic and Low-Frequency Variants in Children With Central Precocious Puberty.
Vassos Neocleous, Pavlos Fanis, Meropi Toumba, Barbara Gorka, Ioanna Kousiappa

Front Endocrinol (Lausanne)· February 2022

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Molecular modelling of novel ADCY3 variant predicts a molecular target for tackling obesity.
Meropi Toumba, Pavlos Fanis, Dimitrios Vlachakis, Vassos Neocleous, Leonidas A Phylactou

Int J Mol Med· January 2022

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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.
Panayiotis K Yiallouros, Andreas Μ Matthaiou, Pinelopi Anagnostopoulou, Panayiotis Kouis, Malgorzata Libik, Pavlos Fanis

Orphanet J Rare Dis· October 2021

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Molecular epidemiology of SARS-CoV-2 in Cyprus.
Jan Richter, Pavlos Fanis, Christina Tryfonos, Dana Koptides, George Krashias

PLoS One· July 2021

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GnRH Deficient Patients With Congenital Hypogonadotropic Hypogonadism: Novel Genetic Findings in , and Genes in a Case Series and Review of the Literature.
Vassos Neocleous, Pavlos Fanis, Meropi Toumba, George A Tanteles, Melpo Schiza

Front Endocrinol (Lausanne)· May 2021

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Sex-specific transcriptional profiles identified in β-thalassemia patients.
Aikaterini Nanou, Chrisavgi Toumpeki, Pavlos Fanis, Nicoletta Bianchi, Lucia Carmela Cosenza

Haematologica· April 2021

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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 gene.
Pavlos Fanis, Vassos Neocleous, Konstantina Kosta, Aristea Karipiadou, Michaela F Hartmann

J Pediatr Endocrinol Metab· January 2021

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Neurophysiological and Genetic Findings in Patients With Juvenile Myoclonic Epilepsy.
Stefani Stefani, Ioanna Kousiappa, Nicoletta Nicolaou, Eleftherios S Papathanasiou, Anastasis Oulas, Pavlos Fanis

Front Integr Neurosci· August 2020

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Proteomic Studies for the Investigation of γ-Globin Induction by Decitabine in Human Primary Erythroid Progenitor Cultures.
Andria Theodorou, Marios Phylactides, Eleni Katsantoni, Kostas Vougas, Spyros D Garbis, Pavlos Fanis

J Clin Med· January 2020

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A novel mutation in the erythroid transcription factor KLF1 is likely responsible for ameliorating β-thalassemia major.
Pavlos Fanis, Ioanna Kousiappa, Marios Phylactides, Andreani Kyrri, Michael Hadjigavriel

Hum Mutat· October 2019

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Central Precocious Puberty Caused by Novel Mutations in the Promoter and 5'-UTR Region of the Imprinted Gene.
Pavlos Fanis, Nicos Skordis, Meropi Toumba, Nikoletta Papaioannou, Anestis Makris

Front Endocrinol (Lausanne)· October 2019

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46,XY complete gonadal dysgenesis in a familial case with a rare mutation in the desert hedgehog (DHH) gene.
Vassos Neocleous, Pavlos Fanis, Feride Cinarli, Vasilis Kokotsis, Anastasios Oulas

Hormones (Athens)· September 2019

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The Spectrum of Genetic Defects in Congenital Adrenal Hyperplasia in the Population of Cyprus: A Retrospective Analysis.
Vassos Neocleous, Pavlos Fanis, Meropi Toumba, Charilaos Stylianou, Michalis Picolos

Horm Metab Res· September 2019

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A novel heterozygous duplication of the gene in two Gitelman syndrome pedigrees: indicating a founder effect.
Pavlos Fanis, Elisavet Efstathiou, Vassos Neocleous, Leonidas A Phylactou, Adamos Hadjipanayis

J Genet· March 2019

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