Genotyping of BCL11A and HBS1L-MYB SNPs associated with fetal haemoglobin levels: a SNaPshot minisequencing approach

por Fanis, Pavlos, Kousiappa, Ioanna, Phylactides, Marios, Kleanthous, Marina
Publicado 2014

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

por Fanis, Pavlos, Skordis, Nicos, Phylactou, Leonidas A., Neocleous, Vassos
Publicado 2022

Genotype Is Associated to the Degree of Virilization in Patients With Classic Congenital Adrenal Hyperplasia

por Neocleous, Vassos, Fanis, Pavlos, Phylactou, Leonidas A., Skordis, Nicos
Publicado 2018

Editorial: Genetic, epigenetic and molecular landscaping of puberty

por Howard, Sasha R., Fanis, Pavlos, Nicolaides, Nicolas C., Grandone, Anna
Publicado 2023

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

por Neocleous, Vassos, Fanis, Pavlos, Frangos, Savvas, Skordis, Nicos, Phylactou, Leonidas A.
Publicado 2023

Gonadotropin-Releasing Hormone Receptor (GnRHR) and Hypogonadotropic Hypogonadism

por Fanis, Pavlos, Neocleous, Vassos, Papapetrou, Irene, Phylactou, Leonidas A., Skordis, Nicos
Publicado 2023

Sequential Role of SOXB2 Factors in GABAergic Neuron Specification of the Dorsal Midbrain

por Makrides, Neoklis, Panayiotou, Elena, Fanis, Pavlos, Karaiskos, Christos, Lapathitis, George, Malas, Stavros
Publicado 2018

IthaGenes: An Interactive Database for Haemoglobin Variations and Epidemiology

por Kountouris, Petros, Lederer, Carsten W., Fanis, Pavlos, Feleki, Xenia, Old, John, Kleanthous, Marina
Publicado 2014

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

por Fanis, Pavlos, Skordis, Nicos, Toumba, Meropi, Picolos, Michalis, Tanteles, George A., Neocleous, Vassos, Phylactou, Leonidas A.
Publicado 2023

A novel mutation in the erythroid transcription factor KLF1 is likely responsible for ameliorating β‐thalassemia major

por Fanis, Pavlos, Kousiappa, Ioanna, Phylactides, Marios, Kyrri, Andreani, Hadjigavriel, Michael, Christou, Soteroula, Sitarou, Maria, Kleanthous, Marina
Publicado 2019

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

por Fanis, Pavlos, Skordis, Nicos, Toumba, Meropi, Papaioannou, Nikoletta, Makris, Anestis, Kyriakou, Andreas, Neocleous, Vassos, Phylactou, Leonidas A.
Publicado 2019

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

por Toumba, Meropi, Fanis, Pavlos, Vlachakis, Dimitrios, Neocleous, Vassos, Phylactou, Leonidas A., Skordis, Nicos, Mantzoros, Christos S., Pantelidou, Maria
Publicado 2022

46,XY Disorder of Sex Development due to 17-Beta Hydroxysteroid Dehydrogenase Type 3 Deficiency in an Infant of Greek Origin

por Tsinopoulou, Assimina Galli, Serbis, Anastasios, Kotanidou, Eleni P., Litou, Eleni, Dokousli, Vaia, Mouzaki, Konstantina, Fanis, Pavlos, Neocleous, Vassos, Skordis, Nicos
Publicado 2018

Proteomic Studies for the Investigation of γ-Globin Induction by Decitabine in Human Primary Erythroid Progenitor Cultures

por Theodorou, Andria, Phylactides, Marios, Katsantoni, Eleni, Vougas, Kostas, Garbis, Spyros D., Fanis, Pavlos, Sitarou, Maria, Thein, Swee Lay, Kleanthous, Marina
Publicado 2020

Methylation status of hypothalamic Mkrn3 promoter across puberty

por Fanis, Pavlos, Morrou, Maria, Tomazou, Marios, Michailidou, Kyriaki, Spyrou, George M., Toumba, Meropi, Skordis, Nicos, Neocleous, Vassos, Phylactou, Leonidas A.
Publicado 2023

Neurophysiological and Genetic Findings in Patients With Juvenile Myoclonic Epilepsy

por Stefani, Stefani, Kousiappa, Ioanna, Nicolaou, Nicoletta, Papathanasiou, Eleftherios S., Oulas, Anastasis, Fanis, Pavlos, Neocleous, Vassos, Phylactou, Leonidas A., Spyrou, George M., Papacostas, Savvas S.
Publicado 2020

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

por Johannsen, Trine Holm, Albrethsen, Jakob, Neocleous, Vassos, Baronio, Federico, Cools, Martine, Aksglaede, Lise, Jørgensen, Niels, Christiansen, Peter, Toumba, Meropi, Fanis, Pavlos, Ljubicic, Marie Lindhardt, Juul, Anders
Publicado 2023

Variations in the 3′UTR of the CYP21A2 Gene in Heterozygous Females with Hyperandrogenaemia

por Neocleous, Vassos, Fanis, Pavlos, Toumba, Meropi, Phedonos, Alexia A. P., Picolos, Michalis, Andreou, Elena, Kyriakides, Tassos C., Tanteles, George A., Shammas, Christos, Phylactou, Leonidas A., Skordis, Nicos
Publicado 2017

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...

por Neocleous, Vassos, Fanis, Pavlos, Toumba, Meropi, Tanteles, George A., Schiza, Melpo, Cinarli, Feride, Nicolaides, Nicolas C., Oulas, Anastasis, Spyrou, George M., Mantzoros, Christos S., Vlachakis, Dimitrios, Skordis, Nicos, Phylactou, Leonidas A.
Publicado 2020

Molecular epidemiology of SARS-CoV-2 in Cyprus

por Richter, Jan, Fanis, Pavlos, Tryfonos, Christina, Koptides, Dana, Krashias, George, Bashiardes, Stavros, Hadjisavvas, Andreas, Loizidou, Maria, Oulas, Anastasis, Alexandrou, Denise, Kalakouta, Olga, Panayiotidis, Mihalis I., Spyrou, George M., Christodoulou, Christina
Publicado 2021