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

Clinical Value of MLPA for Prognostic Assessment of Chromosomal Rearrangements and DNA Methylation in Uveal Melanoma.

MLPA在葡萄膜黑色素瘤染色体重排和DNA甲基化预后评估中的临床价值

Soltysova Andrea, Dvorska Dana, Ficek Andrej, Pecimonova Martina, Samec Marek, Kasubova Ivana, Horvathova Kajabova Viera, Demkova Lucia, Babal Pavel, Valaskova Jela, Dankova Zuzana, Smolkova Bozena, Furdova Alena

Characterization of CTNND2-related neurodevelopmental disease, phenotype-genotype spectrum and WNT dynamics in early neurogenesis

CTNND2相关神经发育疾病的特征、表型-基因型谱以及早期神经发生过程中WNT信号通路的动态变化

Shahsavani, Mansoureh; Wincent, Josephine; Reiter, Ricarda; Soltysova, Andrea; Schuy, Jakob; Helgadottir, Hafdis T; Eisfeldt, Jesper; Ek, Marlene; Ficek, Andrej; Druschke, Lotta; Kusikova, Katarina; Hsieh, Tzung-Chien; Krichhoff, Aron; Krawitz, Peter; Li, Jing-Mei; Webersinke, Gerald; Gorokhova, Svetlana; Missirian, Chantal; Riccardi, Florence; Pavinato, Lisa; Brusco, Alfredo; Mandrile, Giorgia; Trajkova, Slavica; Pintus, Francesco; Gagachovska, Biljana; Waisfisz, Quinten; van Hagen, Annet; Bedoukian, Emma; Izumi, Kosuke; Granger, Leslie; Petersen, Andrea; Oegema, Renske; Huibers, Manon; Demurger, Florence; Brischoux-Boucher, Elise; Julia, Sophie; Banneau, Guillaume; Zavala, M Jesus; Lagos, Catalina; Repetto, Gabriela M; Jouret, Guillaume; Kentros, Catherine; Ganapathi, Mythily; Chung, Wendy K; May, Halie; Hiatt, Susan M; Kelley, Whitley V; Förster, Alisa; Olfe, Lisa; Shillington, Amelle; Dauriat, Benjamin; Mercier, Sandra; Cogné, Benjamin; Engel, Camille; Dahlen, Eric; Rosenberger, Georg; Sauvigny, Thomas; Abdallah, Hamza Hadj; Courtin, Thomas; Stray-Pedersen, Asbjørg; Bernat, John A; Paolillo, Vitoria K; Viso, Florencia Del; Alaimo, Joseph T; Thiffault, Isabelle; Farrow, Emily G; Cohen, Ana S A; Weis, Serge; Duba, Hans-Christoph; Nordgren, Ann; Falk, Anna; Weis, Denisa; Lindstrand, Anna

Uncovering accurate prognostic markers for high-risk uveal melanoma through DNA methylation profiling

通过DNA甲基化谱分析揭示高危葡萄膜黑色素瘤的准确预后标志物

Soltysova, Andrea; Dvorska, Dana; Kajabova, Viera Horvathova; Pecimonova, Martina; Cepcekova, Klaudia; Ficek, Andrej; Demkova, Lucia; Buocikova, Verona; Babal, Pavel; Juras, Ivan; Janikova, Katarina; Kasubova, Ivana; Samec, Marek; Brany, Dusan; Lyskova, Darina; Valaskova, Jela; Dankova, Zuzana; Smolkova, Bozena; Furdova, Alena

Prognostic Value of Genotype-Phenotype Correlations in X-Linked Myotubular Myopathy and the Use of the Face2Gene Application as an Effective Non-Invasive Diagnostic Tool

基因型-表型相关性在X连锁肌管性肌病中的预后价值以及Face2Gene应用程序作为有效无创诊断工具的应用

Kušíková, Katarína; Šoltýsová, Andrea; Ficek, Andrej; Feichtinger, René G; Mayr, Johannes A; Škopková, Martina; Gašperíková, Daniela; Kolníková, Miriam; Ornig, Karoline; Kalev, Ognian; Weis, Serge; Weis, Denisa

Making Waves: Collaboration in the time of SARS-CoV-2 - rapid development of an international co-operation and wastewater surveillance database to support public health decision-making

乘风破浪:SARS-CoV-2 疫情期间的合作——快速建立国际合作和废水监测数据库,以支持公共卫生决策

Lundy, Lian; Fatta-Kassinos, Despo; Slobodnik, Jaroslav; Karaolia, Popi; Cirka, Lubos; Kreuzinger, Norbert; Castiglioni, Sara; Bijlsma, Lubertus; Dulio, Valeria; Deviller, Geneviève; Lai, Foon Yin; Alygizakis, Nikiforos; Barneo, Manuela; Baz-Lomba, Jose Antonio; Béen, Frederic; Cíchová, Marianna; Conde-Pérez, Kelly; Covaci, Adrian; Donner, Erica; Ficek, Andrej; Hassard, Francis; Hedström, Annelie; Hernandez, Félix; Janská, Veronika; Jellison, Kristen; Hofman, Jan; Hill, Kelly; Hong, Pei-Ying; Kasprzyk-Hordern, Barbara; Kolarević, Stoimir; Krahulec, Jan; Lambropoulou, Dimitra; de Llanos, Rosa; Mackuľak, Tomáš; Martinez-García, Lorena; Martínez, Francisco; Medema, Gertjan; Micsinai, Adrienn; Myrmel, Mette; Nasser, Mohammed; Niederstätter, Harald; Nozal, Leonor; Oberacher, Herbert; Očenášková, Věra; Ogorzaly, Leslie; Papadopoulos, Dimitrios; Peinado, Beatriz; Pitkänen, Tarja; Poza, Margarita; Rumbo-Feal, Soraya; Sánchez, Maria Blanca; Székely, Anna J; Soltysova, Andrea; Thomaidis, Nikolaos S; Vallejo, Juan; van Nuijs, Alexander; Ware, Vassie; Viklander, Maria

Variant c.2158-2A>G in MANBA is an important and frequent cause of hereditary hearing loss and beta-mannosidosis among the Czech and Slovak Roma population- evidence for a new ethnic-specific variant

MANBA基因的c.2158-2A>G变异是捷克和斯洛伐克罗姆人遗传性听力损失和β-甘露糖苷酶缺乏症的重要且常见的病因——这是新的种族特异性变异的证据。

Safka Brozkova, Dana; Varga, Lukas; Uhrova Meszarosova, Anna; Slobodova, Zuzana; Skopkova, Martina; Soltysova, Andrea; Ficek, Andrej; Jencik, Jan; Lastuvkova, Jana; Gasperikova, Daniela; Seeman, Pavel

MARVELD2 (DFNB49) mutations in the hearing impaired Central European Roma population--prevalence, clinical impact and the common origin

中欧罗姆人听力障碍人群中MARVELD2 (DFNB49) 基因突变——患病率、临床影响及共同起源

Mašindová, Ivica; Šoltýsová, Andrea; Varga, Lukáš; Mátyás, Petra; Ficek, Andrej; Hučková, Miloslava; Sůrová, Martina; Šafka-Brožková, Dana; Anwar, Saima; Bene, Judit; Straka, Slavomír; Janicsek, Ingrid; Ahmed, Zubair M; Seeman, Pavel; Melegh, Béla; Profant, Milan; Klimeš, Iwar; Riazuddin, Saima; Kádasi, Ľudevít; Gašperíková, Daniela

Genetic polymorphisms related to testosterone metabolism in intellectually gifted boys

智力超常男孩睾酮代谢相关的基因多态性

Celec, Peter; Tretinárová, Denisa; Minárik, Gabriel; Ficek, Andrej; Szemes, Tomáš; Lakatošová, Silvia; Schmidtová, Eva; Turňa, Ján; Kádaši, Ľudevít; Ostatníková, Daniela