Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Alexia A P Phedonos"'
Autor:
Vassos Neocleous, Pavlos Fanis, Meropi Toumba, Alexia A. P. Phedonos, Michalis Picolos, Elena Andreou, Tassos C. Kyriakides, George A. Tanteles, Christos Shammas, Leonidas A. Phylactou, Nicos Skordis
Publikováno v:
International Journal of Endocrinology, Vol 2017 (2017)
Heterozygosity for CYP21A2 mutations in females is possibly related to increased risk of developing clinical hyperandrogenism. The present study was designed to seek evidence on the phenotype-genotype correlation in female children, adolescents, and
Externí odkaz:
https://doaj.org/article/a06836efd0164039ab1a9291f37ebb7a
Autor:
Pavlos Fanis, Nicos Skordis, Alexia A P Phedonos, Vassos Neocleous, Tassos C. Kyriakides, Meropi Toumba, Leonidas A. Phylactou, George A. Tanteles, Christos Shammas, Elena Andreou, Michalis Picolos
Publikováno v:
International Journal of Endocrinology, Vol 2017 (2017)
International Journal of Endocrinology
International Journal of Endocrinology
Heterozygosity forCYP21A2mutations in females is possibly related to increased risk of developing clinical hyperandrogenism. The present study was designed to seek evidence on the phenotype-genotype correlation in female children, adolescents, and wo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf8b604f1216b6e9eeb952fa928f87f2
https://doi.org/10.1155/2017/8984365
https://doi.org/10.1155/2017/8984365
Autor:
Alexia A P Phedonos, Christos Shammas, Vassos Neocleous, Nicos Skordis, Leonidas A. Phylactou, Tassos C. Kyriakides
Publikováno v:
Clinical Genetics. 84:585-588
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is a common autosomal recessive disorder caused by mutations in the CYP21A2 gene. The carrier frequency of CYP21A2 mutations has been estimated to be 1:25 to 1:10 on the b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e1c9626459a69d701cb8e9cf01450e28
https://doi.org/10.1111/cge.12153
https://doi.org/10.1111/cge.12153
Autor:
Vassos, Neocleous, Pavlos, Fanis, Meropi, Toumba, Alexia A P, Phedonos, Michalis, Picolos, Elena, Andreou, Tassos C, Kyriakides, George A, Tanteles, Christos, Shammas, Leonidas A, Phylactou, Nicos, Skordis
Publikováno v:
International Journal of Endocrinology
Heterozygosity for CYP21A2 mutations in females is possibly related to increased risk of developing clinical hyperandrogenism. The present study was designed to seek evidence on the phenotype-genotype correlation in female children, adolescents, and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f566fe6d7737cf3c228ff2c1cb5d839c
https://pubmed.ncbi.nlm.nih.gov/28487735
https://pubmed.ncbi.nlm.nih.gov/28487735
Autor:
Letta Argyri, Angeliki Chroni, Alexia A P Phedonos, M. Mahdi Motazacker, Georgios Daniil, Adriaan G. Holleboom, Jan Albert Kuivenhoven
Publikováno v:
Clinica chimica acta; international journal of clinical chemistry, 412(13-14), 1213-1220. Elsevier
Background: Genetic factors regulate both high-density lipoprotein (HDL) levels and functionality, thus affecting HDL antiatherogenic properties. We characterized the HDL antioxidant/anti-inflammatory properties and apoA-I-containing subpopulations i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5f47ccbab90f2175e9327580cc806ba
https://doi.org/10.1016/j.cca.2011.03.011
https://doi.org/10.1016/j.cca.2011.03.011
Autor:
Vassos Neocleous, Christos Shammas, Nicos Skordis, Alexia A P Phedonos, Leonidas A. Phylactou
Publikováno v:
Indian Journal of Endocrinology and Metabolism
Indian Journal of Endocrinology and Metabolism, Vol 18, Iss 7, Pp 72-79 (2014)
Indian Journal of Endocrinology and Metabolism, Vol 18, Iss 7, Pp 72-79 (2014)
Objectives: The objective was to seek evidence on the prevalence and consequences of heterozygous CYP21A2 mutations in girls, adolescent, and adult females with clinical manifestation of androgen excess. Patients and Methods: The study included 64 gi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2dc609070778bab2fba89795986f1392
Autor:
Elisavet Efstathiou, Vassos Neocleous, Constantina Costi, Alexia A P Phedonos, Meropi Toumba, Nicos Skordis, Leonidas A. Phylactou, Andreas Kyriakou, Christos Shammas
Publikováno v:
Genetic Testing and Molecular Biomarkers
Hereditary endocrinopathies in Cyprus exhibit evidence of a founder effect and display the influence of past migration patterns. The genetic frequency and mutation pattern of a specific disorder of sex development (DSD), which is classified as 46,XX
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba0b024b5ad516a2222522854fe8705b
Autor:
Andreas Kyriakou, Vassos Neocleous, Meropi Toumba, Christos Shammas, Nicos Skordis, Leonidas A. Phylactou, Alexia A P Phedonos
Publikováno v:
Journal of Endocrinological Investigation
To seek evidence on the prevalence of CYP21A2 genetic defects and consequences in girls with premature adrenarche (PA).The study included 59 girls diagnosed with PA. Direct DNA sequencing and MLPA analysis were performed to identify mutations in CYP2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f64048d9cfd289a203cff021673674e3