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

A Spectrum of Pathogenic Variants in the LAMA2 Gene in the Russian Federation

俄罗斯联邦LAMA2基因致病变异谱

Chausova, Polina; Cherevatova, Tatiana; Dadali, Elena; Murtazina, Aysylu; Bulakh, Maria; Kurbatov, Sergei; Anisimova, Inga; Kanivets, Ilya; Udalova, Vasilisa; Rudenskaya, Galina; Demina, Nina; Sharkova, Inna; Monakhova, Anastasia; Tsygankova, Polina; Markova, Tatiana; Ryzhkova, Oksana; Shatohina, Olga; Galkina, Varvara; Borovikov, Artem; Mishina, Irina; Shchagina, Olga; Chukhrova, Alena; Polyakov, Aleksander

PSG and Other Candidate Genes as Potential Biomarkers of Therapy Resistance in B-ALL: Insights from Chromosomal Microarray Analysis and Machine Learning

PSG 和其他候选基因作为 B 细胞急性淋巴细胞白血病 (B-ALL) 治疗耐药性的潜在生物标志物:来自染色体微阵列分析和机器学习的启示

Surimova, Valeriya; Risinskaya, Natalya; Kotova, Ekaterina; Abdulpatakhov, Abdulpatakh; Vasileva, Anastasia; Chabaeva, Yulia; Starchenko, Sofia; Aleshina, Olga; Kapranov, Nikolay; Galtseva, Irina; Ponomareva, Alina; Kanivets, Ilya; Korostelev, Sergey; Kulikov, Sergey; Sudarikov, Andrey; Parovichnikova, Elena

Case Report: Adenylosuccinate lyase deficiency type I caused by splicing disruption due to a novel missense variant in the ADSL gene

病例报告:腺苷酸琥珀酸裂解酶缺乏症 I 型,由 ADSL 基因中一种新的错义变异导致的剪接紊乱引起

Borovikov, Artem; Davydenko, Ksenia; Murtazina, Aysylu; Sharkov, Artem; Kanivets, Ilya; Filatova, Alexandra; Skoblov, Mikhail

Clinical and Molecular Presentation of a Patient with Paternal Uniparental Isodisomy of Chromosome 16

16号染色体父系单亲同源二体患者的临床和分子表现

Panchenko, Elizaveta; Semenova, Natalia; Sereda, Olga; Guseva, Daria; Markova, Zhanna; Shilova, Nadezhda; Simonova, Olga; Smirnov, Anton; Pustoshilov, Dmitry; Khalilova, Arina; Udalova, Vasilisa; Kanivets, Ilya; Zaletaev, Dmitry; Strelnikov, Vladimir; Kutsev, Sergey

The Missing Piece of the Puzzle: Unveiling the Role of PTPN11 Gene in Multiple Osteochondromas in a Large Cohort Study.

拼图缺失的一环:一项大型队列研究揭示了 PTPN11 基因在多发性骨软骨瘤中的作用

Borovikov Artem, Galeeva Nailya, Marakhonov Andrey, Murtazina Aysylu, Kadnikova Varvara, Davydenko Kseniya, Orlova Anna, Sparber Peter, Markova Tatiana, Orlova Maria, Osipova Darya, Nagornova Tatyana, Semenova Natalia, Levchenko Olga, Filatova Alexandra, Sharova Margarita, Vasiluev Peter, Kanivets Ilya, Pyankov Denis, Sharkov Artem, Udalova Vasilisa, Kenis Vladimir, Nikitina Natalia, Sumina Maria, Zherdev Konstantin, Petel'guzov Aleksandr, Chelpachenko Oleg, Zubkov Pavel, Dan Ivan, Snetkov Andrey, Akinshina Alexandra, Buklemishev Yury, Ryzhkova Oxana, Tabakov Vyacheslav, Zakharova Ekaterina, Korostelev Sergey, Zinchenko Rena, Skoblov Mikhail, Polyakov Alexander, Dadali Elena, Kutsev Sergey, Shchagina Olga

Cases report: Mosaic structural variants of the EXT1 gene in previously genetically unconfirmed multiple osteochondromas

病例报告:此前未经基因证实的多发性骨软骨瘤中存在 EXT1 基因的镶嵌结构变异

Artem Borovikov, Andrey Marakhonov, Aysylu Murtazina, Kseniya Davydenko, Alexandra Filatova, Nailya Galeeva, Varvara Kadnikova, Natalya Ogorodova, Daria Gorodilova, Ilya Kanivets, Denis Pyankov, Konstantin Zherdev, Aleksandr Petel'guzov, Pavel Zubkov, Alexander Polyakov, Olga Shchagina, Mikhail Skob

Four Novel Disease-Causing Variants in the NOTCH3 Gene in Russian Patients with CADASIL

在俄罗斯CADASIL患者中发现NOTCH3基因的四个新的致病变异

Bostanova, Fatima; Tsygankova, Polina; Nagornov, Ilya; Dadali, Elena; Bessonova, Lyudmila; Kulesh, Aleksey; Drobakha, Viktor; Danchenko, Irina; Kanivets, Ilya; Zakharova, Ekaterina

Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications

SCN8A相关疾病的基因型-表型相关性揭示了其预后和治疗意义。

Johannesen, Katrine M; Liu, Yuanyuan; Koko, Mahmoud; Gjerulfsen, Cathrine E; Sonnenberg, Lukas; Schubert, Julian; Fenger, Christina D; Eltokhi, Ahmed; Rannap, Maert; Koch, Nils A; Lauxmann, Stephan; Krüger, Johanna; Kegele, Josua; Canafoglia, Laura; Franceschetti, Silvana; Mayer, Thomas; Rebstock, Johannes; Zacher, Pia; Ruf, Susanne; Alber, Michael; Sterbova, Katalin; Lassuthová, Petra; Vlckova, Marketa; Lemke, Johannes R; Platzer, Konrad; Krey, Ilona; Heine, Constanze; Wieczorek, Dagmar; Kroell-Seger, Judith; Lund, Caroline; Klein, Karl Martin; Au, P Y Billie; Rho, Jong M; Ho, Alice W; Masnada, Silvia; Veggiotti, Pierangelo; Giordano, Lucio; Accorsi, Patrizia; Hoei-Hansen, Christina E; Striano, Pasquale; Zara, Federico; Verhelst, Helene; Verhoeven, Judith S; Braakman, Hilde M H; van der Zwaag, Bert; Harder, Aster V E; Brilstra, Eva; Pendziwiat, Manuela; Lebon, Sebastian; Vaccarezza, Maria; Le, Ngoc Minh; Christensen, Jakob; Grønborg, Sabine; Scherer, Stephen W; Howe, Jennifer; Fazeli, Walid; Howell, Katherine B; Leventer, Richard; Stutterd, Chloe; Walsh, Sonja; Gerard, Marion; Gerard, Bénédicte; Matricardi, Sara; Bonardi, Claudia M; Sartori, Stefano; Berger, Andrea; Hoffman-Zacharska, Dorota; Mastrangelo, Massimo; Darra, Francesca; Vøllo, Arve; Motazacker, M Mahdi; Lakeman, Phillis; Nizon, Mathilde; Betzler, Cornelia; Altuzarra, Cecilia; Caume, Roseline; Roubertie, Agathe; Gélisse, Philippe; Marini, Carla; Guerrini, Renzo; Bilan, Frederic; Tibussek, Daniel; Koch-Hogrebe, Margarete; Perry, M Scott; Ichikawa, Shoji; Dadali, Elena; Sharkov, Artem; Mishina, Irina; Abramov, Mikhail; Kanivets, Ilya; Korostelev, Sergey; Kutsev, Sergey; Wain, Karen E; Eisenhauer, Nancy; Wagner, Monisa; Savatt, Juliann M; Müller-Schlüter, Karen; Bassan, Haim; Borovikov, Artem; Nassogne, Marie Cecile; Destrée, Anne; Schoonjans, An Sofie; Meuwissen, Marije; Buzatu, Marga; Jansen, Anna; Scalais, Emmanuel; Srivastava, Siddharth; Tan, Wen Hann; Olson, Heather E; Loddenkemper, Tobias; Poduri, Annapurna; Helbig, Katherine L; Helbig, Ingo; Fitzgerald, Mark P; Goldberg, Ethan M; Roser, Timo; Borggraefe, Ingo; Brünger, Tobias; May, Patrick; Lal, Dennis; Lederer, Damien; Rubboli, Guido; Heyne, Henrike O; Lesca, Gaetan; Hedrich, Ulrike B S; Benda, Jan; Gardella, Elena; Lerche, Holger; Møller, Rikke S

Clinical Manifestations of Various Molecular Cytogenetic Variants of Eight Cases of "8p Inverted Duplication/Deletion Syndrome"

八例“8p倒置重复/缺失综合征”各种分子细胞遗传学变异的临床表现

Darya A Yurchenko, Marina E Minzhenkova, Elena L Dadali, Zhanna G Markova, Galina E Rudenskaya, Galina N Matyushchenko, Ilya V Kanivets, Nadezda V Shilova

Pediatric Encephalopathy: Clinical, Biochemical and Cellular Insights into the Role of Gln52 of GNAO1 and GNAI1 for the Dominant Disease

儿童脑病:从临床、生化和细胞角度洞察 GNAO1 和 GNAI1 的 Gln52 对主要疾病的作用

Gonzalo P Solis, Tatyana V Kozhanova, Alexey Koval, Svetlana S Zhilina, Tatyana I Mescheryakova, Aleksandr A Abramov, Evgeny V Ishmuratov, Ekaterina S Bolshakova, Karina V Osipova, Sergey O Ayvazyan, Sébastien Lebon, Ilya V Kanivets, Denis V Pyankov, Sabina Troccaz, Denis N Silachev, Nikolay N Zavad