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

Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders

外显子组测序改善了儿童不明原因神经发育障碍的分子诊断

期刊:Orphanet Journal of Rare Diseases
影响因子:3.4
doi:10.1186/s13023-024-03056-6
Marketa Wayhelova, Vladimira Vallova, Petr Broz, Aneta Mikulasova, Jan Smetana, Hana Dynkova Filkova, Dominika Machackova, Kristina Handzusova, Renata Gaillyova, Petr Kuglik
神经
发表日期：2024
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A unique case of Bloom syndrome with a combination of genetic hits: A lesson from trio‑based exome sequencing: A case report

一例具有多种基因突变的布鲁姆综合征独特病例：基于三联体外显子组测序的启示：病例报告

期刊:Molecular Medicine Reports
影响因子:3.5
doi:10.3892/mmr.2023.12997
Wayhelova, Marketa; Vallova, Vladimira; Broz, Petr; Mikulasova, Aneta; Machackova, Dominika; Filkova, Hana Dynkova; Smetana, Jan; Takacsova, Alena; Gaillyova, Renata; Kuglik, Petr
发表日期：2023
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The clinical benefit of array-based comparative genomic hybridization for detection of copy number variants in Czech children with intellectual disability and developmental delay

基于芯片的比较基因组杂交技术在检测捷克智力障碍和发育迟缓儿童拷贝数变异方面的临床益处

期刊:BMC Medical Genomics
影响因子:2
doi:10.1186/s12920-019-0559-7
Wayhelova, Marketa; Smetana, Jan; Vallova, Vladimira; Hladilkova, Eva; Filkova, Hana; Hanakova, Marta; Vilemova, Marcela; Nikolova, Petra; Gromesova, Barbora; Gaillyova, Renata; Kuglik, Petr
发育与干细胞
发表日期：2019
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The spectrum of somatic mutations in monoclonal gammopathy of undetermined significance indicates a less complex genomic landscape than that in multiple myeloma

意义未明的单克隆丙种球蛋白病中的体细胞突变谱表明，其基因组图谱比多发性骨髓瘤的基因组图谱要简单得多。

期刊:Haematologica
影响因子:7.9
doi:10.3324/haematol.2017.163766
Mikulasova, Aneta; Wardell, Christopher P; Murison, Alexander; Boyle, Eileen M; Jackson, Graham H; Smetana, Jan; Kufova, Zuzana; Pour, Ludek; Sandecka, Viera; Almasi, Martina; Vsianska, Pavla; Gregora, Evzen; Kuglik, Petr; Hajek, Roman; Davies, Faith E; Morgan, Gareth J; Walker, Brian A
多发性骨髓瘤
细胞生物学
骨髓瘤
发表日期：2017
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A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms

2q13染色体上的复发性缺失与发育迟缓和轻微面部畸形有关。

期刊:Molecular Cytogenetics
影响因子:1.4
doi:10.1186/s13039-015-0157-0
Hladilkova, Eva; Barøy, Tuva; Fannemel, Madeleine; Vallova, Vladimira; Misceo, Doriana; Bryn, Vesna; Slamova, Iva; Prasilova, Sarka; Kuglik, Petr; Frengen, Eirik
发育与干细胞
发表日期：2015
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Circulating serum microRNAs as novel diagnostic and prognostic biomarkers for multiple myeloma and monoclonal gammopathy of undetermined significance

循环血清microRNA作为多发性骨髓瘤和意义未明的单克隆丙种球蛋白病的新型诊断和预后生物标志物

期刊:Haematologica
影响因子:7.9
doi:10.3324/haematol.2013.093500
Kubiczkova, Lenka; Kryukov, Fedor; Slaby, Ondrej; Dementyeva, Elena; Jarkovsky, Jiri; Nekvindova, Jana; Radova, Lenka; Greslikova, Henrieta; Kuglik, Petr; Vetesnikova, Eva; Pour, Ludek; Adam, Zdenek; Sevcikova, Sabina; Hajek, Roman
多发性骨髓瘤
骨髓瘤
发表日期：2014
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Soft-tissue extramedullary multiple myeloma prognosis is significantly worse in comparison to bone-related extramedullary relapse

与骨相关髓外复发相比，软组织髓外多发性骨髓瘤的预后明显更差。

期刊:Haematologica
影响因子:7.9
doi:10.3324/haematol.2013.094409
Pour, Ludek; Sevcikova, Sabina; Greslikova, Henrieta; Kupska, Renata; Majkova, Petra; Zahradova, Lenka; Sandecka, Viera; Adam, Zdenek; Krejci, Marta; Kuglik, Petr; Hajek, Roman
多发性骨髓瘤
骨髓瘤
发表日期：2014
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Genome-wide screening of cytogenetic abnormalities in multiple myeloma patients using array-CGH technique: a Czech multicenter experience

利用阵列比较基因组杂交（array-CGH）技术对多发性骨髓瘤患者进行全基因组细胞遗传学异常筛查：捷克多中心经验

期刊:Biomed Research International
影响因子:2.3
doi:10.1155/2014/209670
Smetana, Jan; Frohlich, Jan; Zaoralova, Romana; Vallova, Vladimira; Greslikova, Henrieta; Kupska, Renata; Nemec, Pavel; Mikulasova, Aneta; Almasi, Martina; Pour, Ludek; Adam, Zdenek; Sandecka, Viera; Zahradová, Lenka; Hajek, Roman; Kuglik, Petr
多发性骨髓瘤
细胞生物学
骨髓瘤
发表日期：2014
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Genome-wide screening of DNA copy number alterations in cervical carcinoma patients with CGH+SNP microarrays and HPV-FISH

利用CGH+SNP微阵列和HPV-FISH技术对宫颈癌患者的DNA拷贝数变异进行全基因组筛查

期刊:
影响因子:0.9
doi:
Kuglik, Petr; Smetana, Jan; Vallova, Vladimira; Moukova, Lucie; Kasikova, Katerina; Cvanova, Michaela; Brozova, Lucie
肿瘤
肿瘤免疫
宫颈癌
发表日期：2014
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Clinical implication of centrosome amplification and expression of centrosomal functional genes in multiple myeloma

中心体扩增和中心体功能基因表达在多发性骨髓瘤中的临床意义

期刊:Journal of Translational Medicine
影响因子:7.5
doi:10.1186/1479-5876-11-77
Dementyeva, Elena; Kryukov, Fedor; Kubiczkova, Lenka; Nemec, Pavel; Sevcikova, Sabina; Ihnatova, Ivana; Jarkovsky, Jiri; Minarik, Jiri; Stefanikova, Zdena; Kuglik, Petr; Hajek, Roman
多发性骨髓瘤
骨髓瘤
发表日期：2013
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