Mitrakos相关文献与解析，生知库 | 链接生命科学的每一步

Petrakis, Ioannis; Drosataki, Eleni; Lygerou, Dimitra; Antonakis, Andreas; Kydonaki, Konstantina; Mitrakos, Marinos; Pleros, Christos; Sfakiotaki, Maria; Xekouki, Paraskevi; Stylianou, Kostas

MEN1

CLDN1

发表日期：2025

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A Novel Frameshift Variant and a Partial EHMT1 Microdeletion in Kleefstra Syndrome 1 Patients Resulting in Variable Phenotypic Severity and Literature Review

克利夫斯特拉综合征1型患者中一种新的移码变异和EHMT1部分微缺失导致表型严重程度差异及文献综述

期刊:Genes

影响因子:2.8

doi:10.3390/genes16050521

Tzetis, Maria; Mitrakos, Anastasios; Papathanasiou, Ioanna; Koute, Vasiliki; Kosma, Konstantina; Pons, Roser; Michoula, Aspasia; Grivea, Ioanna; Tsezou, Aspasia

EHMT1

发表日期：2025

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Prenatal Chromosomal Microarray Analysis: Does Increased Resolution Equal Increased Yield?

产前染色体微阵列分析：分辨率提高是否等于检测率提高？

期刊:Genes

影响因子:2.8

doi:10.3390/genes14081519

Mitrakos, Anastasios; Kosma, Konstantina; Makrythanasis, Periklis; Tzetis, Maria

发表日期：2023

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Germline CNV Detection through Whole-Exome Sequencing (WES) Data Analysis Enhances Resolution of Rare Genetic Diseases

通过全外显子组测序（WES）数据分析进行种系拷贝数变异（CNV）检测，可提高罕见遗传疾病的诊断分辨率。

期刊:Genes

影响因子:2.8

doi:10.3390/genes14071490

Tilemis, Faidon-Nikolaos; Marinakis, Nikolaos M; Veltra, Danai; Svingou, Maria; Kekou, Kyriaki; Mitrakos, Anastasios; Tzetis, Maria; Kosma, Konstantina; Makrythanasis, Periklis; Traeger-Synodinos, Joanne; Sofocleous, Christalena

发表日期：2023

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The impact of preimplantation genetic testing for aneuploidies (PGT-A) on clinical outcomes in high risk patients

胚胎植入前非整倍体基因检测（PGT-A）对高危患者临床结局的影响

期刊:Journal of Assisted Reproduction and Genetics

影响因子:3.2

doi:10.1007/s10815-022-02461-9.

Amelia Pantou # ,Anastasios Mitrakos # ,Georgia Kokkali ,Konstantina Petroutsou ,Georgia Tounta ,Leandros Lazaros ,Alexandros Dimopoulos ,Konstantinos Sfakianoudis ,Konstantinos Pantos ,Michael Koutsilieris ,Ariadni Mavrou ,Emmanuel Kanavakis ,Maria Tzetis

成纤维细胞

发表日期：2022

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239-kb Microdeletion Spanning KMT2E in a Child with Developmental Delay: Further Delineation of the Phenotype

发育迟缓儿童中跨越 KMT2E 的 239 kb 微缺失：表型的进一步阐明

期刊:Molecular Syndromology

影响因子:0.9

doi:10.1159/000516635

Konstantina Kosma ,Konstantinos Varvagiannis ,Anastasios Mitrakos ,Maria Tsipi ,Joanne Traeger-Synodinos ,Maria Tzetis

发育与干细胞

发表日期：2021

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Low-level X Chromosome Mosaicism: A Common Finding in Women Undergoing IVF

低水平X染色体嵌合体：试管婴儿治疗女性的常见发现

期刊:In Vivo

影响因子:1.8

doi:10.21873/invivo.11925

Zachaki, Sophia; Kouvidi, Elisavet; Pantou, Amelia; Tsarouha, Haroula; Mitrakos, Anastasios; Tounta, Georgia; Charalampous, Ioanna; Manola, Kalliopi N; Kanavakis, Emmanuel; Mavrou, Ariadni

发表日期：2020

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Coffin-Siris Syndrome 4-Related Spectrum in a Young Woman Caused by a Heterozygous SMARCA4 Deletion Detected by High-Resolution aCGH

高分辨率aCGH检测到SMARCA4杂合缺失，导致一名年轻女性出现Coffin-Siris综合征4相关谱系疾病。

期刊:Molecular Syndromology

影响因子:0.9

doi:10.1159/000508563

Mitrakos, Anastasios; Lazaros, Leandros; Pantou, Amelia; Mavrou, Ariadni; Kanavakis, Emmanuel; Tzetis, Maria

ARC

发表日期：2020

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[Squamous cell carcinoma arising in oral lichen planus : Report of two cases]

【口腔扁平苔藓并发鳞状细胞癌：两例报告】

期刊:Hautarzt

影响因子:

doi:10.1007/s00105-020-04669-1

Koushk-Jalali, Bijan; Schürrle, Svenja; Kuntz, Thomas; Mitrakos, Georgios; Tigges, Christian; Oellig, Frank; Hammacher, Andreas; Silling, Steffi; Wieland, Ulrike; Kreuter, Alexander

Nanocomposite-Based Microstructured Piezoresistive Pressure Sensors for Low-Pressure Measurement Range

用于低压测量范围的纳米复合材料基微结构压阻式压力传感器

期刊:Micromachines

影响因子:3

doi:10.3390/mi9020043

Mitrakos, Vasileios; Hands, Philip J W; Cummins, Gerard; Macintyre, Lisa; Denison, Fiona C; Flynn, David; Desmulliez, Marc P Y

发表日期：2018

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Familial MEN1 Syndrome with Atypical Renal Features and a Coexisting CLDN16 Variant: A Case Series

伴有非典型肾脏特征和共存CLDN16变异的家族性MEN1综合征：病例系列

A Novel Frameshift Variant and a Partial EHMT1 Microdeletion in Kleefstra Syndrome 1 Patients Resulting in Variable Phenotypic Severity and Literature Review

克利夫斯特拉综合征1型患者中一种新的移码变异和EHMT1部分微缺失导致表型严重程度差异及文献综述

Prenatal Chromosomal Microarray Analysis: Does Increased Resolution Equal Increased Yield?

产前染色体微阵列分析：分辨率提高是否等于检测率提高？

Germline CNV Detection through Whole-Exome Sequencing (WES) Data Analysis Enhances Resolution of Rare Genetic Diseases

通过全外显子组测序（WES）数据分析进行种系拷贝数变异（CNV）检测，可提高罕见遗传疾病的诊断分辨率。

The impact of preimplantation genetic testing for aneuploidies (PGT-A) on clinical outcomes in high risk patients

胚胎植入前非整倍体基因检测（PGT-A）对高危患者临床结局的影响

239-kb Microdeletion Spanning KMT2E in a Child with Developmental Delay: Further Delineation of the Phenotype

发育迟缓儿童中跨越 KMT2E 的 239 kb 微缺失：表型的进一步阐明

Low-level X Chromosome Mosaicism: A Common Finding in Women Undergoing IVF

低水平X染色体嵌合体：试管婴儿治疗女性的常见发现

Coffin-Siris Syndrome 4-Related Spectrum in a Young Woman Caused by a Heterozygous SMARCA4 Deletion Detected by High-Resolution aCGH

高分辨率aCGH检测到SMARCA4杂合缺失，导致一名年轻女性出现Coffin-Siris综合征4相关谱系疾病。

[Squamous cell carcinoma arising in oral lichen planus : Report of two cases]

【口腔扁平苔藓并发鳞状细胞癌：两例报告】

Nanocomposite-Based Microstructured Piezoresistive Pressure Sensors for Low-Pressure Measurement Range

用于低压测量范围的纳米复合材料基微结构压阻式压力传感器