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

Advanced hybrid closed loop system (MiniMed 780G) achieving significant improvement of glucose control in a patient with maternally inherited diabetes and deafness: a case report

先进混合闭环系统(MiniMed 780G)显著改善母系遗传性糖尿病合并耳聋患者的血糖控制:病例报告

Picolos, Michalis K; Papapostolou, Anastasia; Christodoulou, Anastasia; Tanteles, George A; Kyriakidou, Anna; Papaetis, Georgios

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

Inherited metabolic disorders in Cyprus

塞浦路斯的遗传性代谢紊乱

Georgiou, Theodoros; Petrou, Petros P; Malekkou, Anna; Ioannou, Ioannis; Gavatha, Marina; Skordis, Nicos; Nicolaidou, Paola; Savvidou, Irini; Athanasiou, Emilia; Ourani, Sofia; Papamichael, Elena; Vogazianos, Marios; Dionysiou, Maria; Mavrikiou, Gabriella; Grafakou, Olga; Tanteles, George A; Anastasiadou, Violetta; Drousiotou, Anthi

The pathogenic p.Gln319Ter variant is not causing congenital adrenal hyperplasia when inherited in one of the duplicated CYP21A2 genes

当致病性 p.Gln319Ter 变异遗传至重复的 CYP21A2 基因之一时,不会引起先天性肾上腺皮质增生症。

Fanis, Pavlos; Skordis, Nicos; Toumba, Meropi; Picolos, Michalis; Tanteles, George A; Neocleous, Vassos; Phylactou, Leonidas A

Spinal muscular atrophy type I associated with a novel SMN1 splicing variant that disrupts the expression of the functional transcript

型脊髓性肌萎缩症与一种新型 SMN1 剪接变体相关,该变体破坏了功能性转录本的表达。

Votsi, Christina; Koutsou, Pantelitsa; Ververis, Antonis; Georghiou, Anthi; Nicolaou, Paschalis; Tanteles, George; Christodoulou, Kyproula

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

Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants

携带KCNC2致病变异的癫痫患者的表型、遗传和功能特征谱

Schwarz, Niklas; Seiffert, Simone; Pendziwiat, Manuela; Rademacher, Annika Verena; Brünger, Tobias; Hedrich, Ulrike B S; Augustijn, Paul B; Baier, Hartmut; Bayat, Allan; Bisulli, Francesca; Buono, Russell J; Bruria, Ben Zeev; Doyle, Michael G; Guerrini, Renzo; Heimer, Gali; Iacomino, Michele; Kearney, Hugh; Klein, Karl Martin; Kousiappa, Ioanna; Kunz, Wolfram S; Lerche, Holger; Licchetta, Laura; Lohmann, Ebba; Minardi, Raffaella; McDonald, Marie; Montgomery, Sarah; Mulahasanovic, Lejla; Oegema, Renske; Ortal, Barel; Papacostas, Savvas S; Ragona, Francesca; Granata, Tiziana; Reif, Phillip S; Rosenow, Felix; Rothschild, Annick; Scudieri, Paolo; Striano, Pasquale; Tinuper, Paolo; Tanteles, George A; Vetro, Annalisa; Zahnert, Felix; Goldberg, Ethan M; Zara, Federico; Lal, Dennis; May, Patrick; Muhle, Hiltrud; Helbig, Ingo; Weber, Yvonne

Transcriptomic characterization of tissues from patients and subsequent pathway analyses reveal biological pathways that are implicated in spastic ataxia

对患者组织进行转录组学表征以及后续的通路分析,揭示了与痉挛性共济失调相关的生物学通路。

Kakouri, Andrea C; Votsi, Christina; Oulas, Anastasis; Nicolaou, Paschalis; Aureli, Massimo; Lunghi, Giulia; Samarani, Maura; Compagnoni, Giacomo M; Salani, Sabrina; Di Fonzo, Alessio; Christophides, Thalis; Tanteles, George A; Zamba-Papanicolaou, Eleni; Pantzaris, Marios; Spyrou, George M; Christodoulou, Kyproula