日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Estimating at-risk couple rates across 1000 exome sequencing data cohort for 176 genes and its importance relevance for health policies

利用包含176个基因的1000例外显子组测序数据队列,估算高危夫妇的患病率及其对健康政策的重要性和相关性

Marinakis, Nikolaos M; Tilemis, Faidon-Nikolaos; Veltra, Danai; Svingou, Maria; Sofocleous, Christalena; Kekou, Kyriaki; Kosma, Konstantina; Kampouraki, Afrodite; Kontse, Chrysi; Fylaktou, Irene; Sertedaki, Amalia; Kanaka-Gantenbein, Christina; Traeger-Synodinos, Joanne; Makrythanasis, Periklis

Severe Clinical Manifestation of a Salt Wasting Form of Congenital Adrenal Hyperplasia Harboring a Complex Genotype

携带复杂基因型的先天性肾上腺皮质增生症失盐型的严重临床表现

Fylaktou, Irene; Tsinopoulou, Vasiliki Rengina; Sertedaki, Amalia; Kanaka-Gantenbein, Christina; Galli-Tsinopoulou, Assimina

The Phenotypic Variability Associated with Hepatocyte Nuclear Factor 1B Genetic Defects Poses Challenges in Both Diagnosis and Therapy

肝细胞核因子1β基因缺陷相关的表型变异性给诊断和治疗都带来了挑战。

Petrakis, Ioannis; Sfakiotaki, Maria; Bitsori, Maria; Drosataki, Eleni; Dermitzaki, Kleio; Pleros, Christos; Androvitsanea, Ariadni; Samonakis, Dimitrios; Sertedaki, Amalia; Xekouki, Paraskevi; Galanakis, Emmanouil; Stylianou, Kostas

Genetics of 21-OH Deficiency and Genotype-Phenotype Correlation: Experience of the Hellenic National Referral Center

21-羟化酶缺乏症的遗传学及基因型-表型相关性:希腊国家转诊中心的经验

Fylaktou, Irene; Mertzanian, Anny; Farakla, Ioanna; Gryparis, Alexandros; Vasilakis, Ioannis Anargyros; Binou, Maria; Charmandari, Evangelia; Kanaka-Gantenbein, Christina; Sertedaki, Amalia

Kenny-Caffey Syndrome Type 2 (KCS2): A New Case Report and Patient Follow-Up Optimization

Kenny-Caffey综合征2型(KCS2):一例新病例报告及患者随访优化

Hatziagapiou, Kyriaki; Sertedaki, Amalia; Dermentzoglou, Vasiliki; Popović, Nataša Čurović; Lambrou, George I; Papageorgiou, Louis; Thireou, Trias; Kanaka-Gantenbein, Christina; Sakka, Sophia D

HNF1A gene mutations and premature ovarian failure (POF): evidence from a clinical paradigm combining MODY 3 and POF

HNF1A基因突变与卵巢早衰(POF):来自MODY 3和POF联合临床范式的证据

Xekouki, P; Konstantinidou, A; Tatsi, C; Sertedaki, A; Settas, N; Loutradis, D; Chrousos, G P; Kanaka-Gantenbein, C; Dacou-Voutetakis, C; Voutetakis, A

Whole Exome Sequencing Points towards a Multi-Gene Synergistic Action in the Pathogenesis of Congenital Combined Pituitary Hormone Deficiency

全外显子组测序表明先天性垂体联合激素缺乏症的发病机制中存在多基因协同作用

Sertedaki, Amalia; Tatsi, Elizabeth Barbara; Vasilakis, Ioannis Anargyros; Fylaktou, Irene; Nikaina, Eirini; Iacovidou, Nicoletta; Siahanidou, Tania; Kanaka-Gantenbein, Christina

A human paradigm of LHX4 and NR5A1 developmental gene interaction in the pituitary gland and ovary?

LHX4 和 NR5A1 发育基因在垂体和卵巢中的相互作用的人类范例?

Giannakopoulos, Aristeidis; Sertedaki, Amalia; Chrysis, Dionisios

Plasma Proteomics in Healthy Subjects with Differences in Tissue Glucocorticoid Sensitivity Identifies A Novel Proteomic Signature

组织糖皮质激素敏感性不同的健康受试者血浆蛋白质组学研究发现了一种新的蛋白质组学特征

Nicolaides, Nicolas C; Makridakis, Manousos; Stroggilos, Rafael; Lygirou, Vasiliki; Koniari, Eleni; Papageorgiou, Ifigeneia; Sertedaki, Amalia; Zoidakis, Jerome; Charmandari, Evangelia

lncRNA NORAD is consistently detected in breastmilk exosomes and its expression is downregulated in mothers of preterm infants

lncRNA NORAD 在母乳外泌体中持续检测到,并且其表达在早产儿母亲中下调

Niki Mourtzi, Tania Siahanidou, Margaritis Tsifintaris, Eirini Karamichali, Androniki Tasiopoulou, Amalia Sertedaki, Margarita Pesmatzoglou, Anastasia Kapetanaki, George Liosis, George Baltatzis, Dimitrios Vlachakis, George P Chrousos, Antonis Giannakakis