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

YME1L1 Dysfunction Associated With 3-Methylglutaconic Aciduria.

YME1L1 功能障碍与 3-甲基戊二酸尿症相关

Demetriadou Anthi, Grafakou Olga, Georgiou Theodoros, Burska Daniela, Malekkou Anna, Krizova Jana, Paramera Efstathia, Mavrikiou Gavriella, Dionysiou Maria, Theodosiou Athina, Sismani Carolina, Anastasiadou Violetta, Ioannou Ioannis, Papakonstantinou Evangelos, Hansikova Hana, Drousiotou Anthi, Petrou Petros P

Investigating the "Dark" Genome: First Report of Partington Syndrome in Cyprus

探索“暗黑”基因组:塞浦路斯首例帕廷顿综合征病例报告

Aristidou, Constantia; Theodosiou, Athina; Antoniou, Pavlos; Alexandrou, Angelos; Papaevripidou, Ioannis; Kousoulidou, Ludmila; Koutsou, Pantelitsa; Georghiou, Anthi; Delikurt, Türem; Spanou, Elena; Salameh, Nicole; Evangelidou, Paola; Christodoulou, Kyproula; Verloes, Alain; Christophidou-Anastasiadou, Violetta; Tanteles, George A; Sismani, Carolina

Identification of a novel, pathogenic CREBBP variant in a patient with Menke-Hennekam syndrome: a Case Report

在一名患有门克-亨内卡姆综合征的患者中鉴定出一种新的致病性CREBBP变异:病例报告

Anna Μaria Anastasiou ,Constantia Aristidou ,Athina Theodosiou ,Ludmila Kousoulidou ,Ioannis Papaevripidou ,Angelos Alexandrou ,Paola Evangelidou ,Carolina Sismani ,George A Tanteles ,Despina Sanoudou ,Aristides G Eliopoulos

Fetal genetic factors in pregnancy loss: Insights from a meta-analysis and effectiveness of whole exome sequencing

胎儿遗传因素与妊娠丢失:来自荟萃分析的启示及全外显子组测序的有效性

Hadjipanteli, Andrea; Theodosiou, Athina; Papaevripidou, Ioannis; Alexandrou, Angelos; Salameh, Nicole; Evangelidou, Paola; Tomazou, Marios; Mavrides, Andreas; Fasouliotis, Sozos; Anastasiou, George; Stavroulis, Andreas; Agathokleous, Niki; Agathokleous, Maria; Tsangarides, Stelios; Kallikas, Ioannis; Kakoullis, Kyriakos; Frakala, Sofia; Oxinou, Christina; Marnerides, Andreas; Athanasiou, Emilia; Ourani, Sofia; Anastasiadou, Violetta C; Tanteles, George; Kousoulidou, Ludmila; Sismani, Carolina

Sodium Channel Gene Variants in Fetuses with Abnormal Sonographic Findings: Expanding the Prenatal Phenotypic Spectrum of Sodium Channelopathies

胎儿超声检查异常与钠通道基因变异:拓展钠通道病产前表型谱

Hadjipanteli, Andrea; Theodosiou, Athina; Papaevripidou, Ioannis; Evangelidou, Paola; Alexandrou, Angelos; Salameh, Nicole; Kallikas, Ioannis; Kakoullis, Kyriakos; Frakala, Sofia; Oxinou, Christina; Marnerides, Andreas; Kousoulidou, Ludmila; Anastasiadou, Violetta C; Sismani, Carolina

A novel large intragenic DPYD deletion causing dihydropyrimidine dehydrogenase deficiency: a case report

一种新型的大片段DPYD基因内缺失导致二氢嘧啶脱氢酶缺乏症:病例报告

Malekkou, Anna; Tomazou, Marios; Mavrikiou, Gavriella; Dionysiou, Maria; Georgiou, Theodoros; Papaevripidou, Ioannis; Alexandrou, Angelos; Sismani, Carolina; Drousiotou, Anthi; Grafakou, Olga; Petrou, Petros P

CHD2 pathogenic nonsense variant in a three-generation family with variable phenotype and a paracentric inversion 16: Case report

一例三代家族中CHD2致病性无义变异伴表型变异及臂间倒位16:病例报告

Angelopoulou, Eleni; Theodosiou, Athina; Papaevripidou, Ioannis; Alexandrou, Angelos; Liehr, Thomas; Gyftodimou, Yolanda; Stefanou, Eunice G; Sismani, Carolina

GAA variants associated with reduced enzymatic activity but lack of Pompe-related symptoms, incidentally identified by exome sequencing

通过外显子组测序偶然发现,GAA 变异体与酶活性降低相关,但缺乏庞贝氏症相关症状。

Malekkou, Anna; Theodosiou, Athina; Alexandrou, Angelos; Papaevripidou, Ioannis; Sismani, Carolina; Jacobs, Edwin H; Ruijter, George J G; Anastasiadou, Violetta; Ourani, Sofia; Athanasiou, Emilia; Drousiotou, Anthi; Grafakou, Olga; Petrou, Petros P

Hereditary multiple exostoses caused by a chromosomal inversion removing part of EXT1 gene

由染色体倒位导致 EXT1 基因部分缺失引起的遗传性多发性外生骨疣

Alexandrou, Angelos; Salameh, Nicole; Papaevripidou, Ioannis; Nicolaou, Nayia; Myrianthopoulos, Panayiotis; Ketoni, Andria; Kousoulidou, Ludmila; Anastasiou, Anna-Maria; Evangelidou, Paola; Tanteles, George A; Sismani, Carolina

Exploring the Genetic Causality of Discordant Phenotypes in Familial Apparently Balanced Translocation Cases Using Whole Exome Sequencing

使用全外显子组测序探索家族性表观平衡易位病例中不一致表型的遗传因果关系

Constantia Aristidou, Athina Theodosiou, Angelos Alexandrou, Ioannis Papaevripidou, Paola Evangelidou, Zoe Kosmaidou-Aravidou, Farkhondeh Behjati, Violetta Christophidou-Anastasiadou, George A Tanteles, Carolina Sismani