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

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

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

De novo mosaic MECP2 mutation in a female with Rett syndrome

Rett综合征女性患者中发现新生嵌合型MECP2突变

Alexandrou, Angelos; Papaevripidou, Ioannis; Alexandrou, Ioanna Maria; Theodosiou, Athina; Evangelidou, Paola; Kousoulidou, Ludmila; Tanteles, George; Christophidou-Anastasiadou, Violetta; Sismani, Carolina

Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases.

位置效应、隐蔽复杂性和直接基因破坏是新生表观平衡易位病例的致病机制

Aristidou Constantia, Theodosiou Athina, Bak Mads, Mehrjouy Mana M, Constantinou Efthymia, Alexandrou Angelos, Papaevripidou Ioannis, Christophidou-Anastasiadou Violetta, Skordis Nicos, Kitsiou-Tzeli Sophia, Tommerup Niels, Sismani Carolina

A novel HCFC1 variant in male siblings with intellectual disability and microcephaly in the absence of cobalamin disorder

在两名患有智力障碍和小头畸形但无钴胺素缺乏症的男性同胞中发现了一种新的HCFC1变异。

Koufaris, Costas; Alexandrou, Angelos; Tanteles, George A; Anastasiadou, Violetta; Sismani, Carolina