Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
An evaluation of cases of disorders of sex development related to SRD5A2.
Celiloglu C et al.
Endocrine, 2025
Exploring the role of non-canonical splice site variants in aberrant splicing associated with reproductive genetic disorders.
Zhou L et al.
Clinical Genetics, 2024
Genetic diagnosis of endocrine disorders in Cyprus through the Cyprus Institute of Neurology and Genetics: an ENDO-ERN Reference Center.
Neocleous V et al.
Orphanet Journal of Rare Diseases, 2024
Prospect of genetic disorders in Saudi Arabia.
Alqahtani AS et al.
Frontiers in Genetics, 2023
The Molecular Basis of 5α-Reductase Type 2 Deficiency.
Batista RL et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2022
Molecular genetics of disorders of sex development in a highly consanguineous population.
Alswailem M et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2021
Exome sequencing identified compound heterozygous mutations in the SRD5A2 gene in a case of 46,XY ambiguous genitalia.
Mehta P et al.
Andrologia, 2021
Pathogenic and Low-Frequency Variants in Children With Central Precocious Puberty.
Neocleous V et al.
Frontiers in Endocrinology, 2021
Genetic Analysis of 25 Patients with 5α-Reductase Deficiency in Chinese Population.
Han B et al.
Biomed Research International, 2020
New insights into 5α-reductase type 2 deficiency based on a multi-centre study: regional distribution and genotype-phenotype profiling of SRD5A2 in 190 Chinese patients.
Gui B et al.
Journal of Medical Genetics, 2019
46,XY complete gonadal dysgenesis in a familial case with a rare mutation in the desert hedgehog (DHH) gene.
Neocleous V et al.
Hormones (athens, Greece), 2019
A novel heterozygous duplication of the SLC12A3 gene in two Gitelman syndrome pedigrees: indicating a founder effect.
Fanis P et al.
Journal of Genetics, 2019
Molecular genetics and phenotype/genotype correlation of 5-α reductase deficiency in a highly consanguineous population.
Alswailem MM et al.
Endocrine, 2019
Multiple endocrine neoplasia 2 in Cyprus: evidence for a founder effect.
Fanis P et al.
Journal of Endocrinological Investigation, 2018
5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review.
Avendaño A et al.
Hormones (athens, Greece), 2018
Association of SRD5A2 gene mutations with risk of hypospadias in the Iranian population.
Rahimi M et al.
Journal of Endocrinological Investigation, 2017
Phenotypic and molecular characteristics in eleven Chinese patients with 5α-reductase Type 2 deficiency.
Zhu H et al.
Clinical Endocrinology, 2014
Overview of genetic defects in endocrinopathies in the island of Cyprus; evidence of a founder effect.
Shammas C et al.
Genetic Testing and Molecular Biomarkers, 2012
Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients.
Maimoun L et al.
The Journal of Clinical Endocrinology and Metabolism, 2011
The IVS1-2A>G mutation in the SRD5A2 gene predominates in Cypriot patients with 5α reductase deficiency.
Skordis N et al.
Journal of Endocrinological Investigation, 2010
Late diagnosis of 5alpha steroid-reductase deficiency due to IVS12A>G mutation of the SRD5a2 gene in an adolescent girl presented with primary amenorrhea.
Skordis N et al.
Hormones (athens, Greece), 0