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

Maternal Uniparental Isodisomy of Chromosome 6: A Novel Case of Teratoma and Autism Spectrum Disorder with a Diagnostic and Management Framework

母系单亲6号染色体同源二体性:畸胎瘤和自闭症谱系障碍的新病例及其诊断和管理框架

Świeca, Aleksandra; Franaszczyk, Maria; Maryniak, Agnieszka; Lipiński, Patryk; Płoski, Rafał; Szczałuba, Krzysztof

Titin-related familial dilated cardiomyopathy: factors associated with disease onset

肌联蛋白相关家族性扩张型心肌病:与疾病发病相关的因素

Johnson, Renee; Fletcher, Robert A; Peters, Stacey; Ohanian, Monique; Soka, Magdalena; Smolnikov, Andrei; Abihider, Katherine E; Ackerman, Michael J; Ader, Flavie; Akhtar, Mohammed M; Amin, Ahmad S; Ashley, Euan A; Atherton, John J; Austin, Rachel; Baas, Annette F; Bagnall, Richard D; Ross, Samantha Barratt; Blouin, Jean-Louis; Brown, Emily E; Bundgaard, Henning; Cannie, Douglas; Chmielewski, Przemyslaw; Correnti, Gemma; Crespo-Leiro, Maria Generosa; Dal Ferro, Matteo; Dellefave-Castillo, Lisa M; Dominguez, Fernando; Dooijes, Dennis; Dybro, Anne M; Ed Demri, Youssef; El Hachmi, Mohamed; Escobar-Lopez, Luis; Foye, Sarah Jajesnica; Franaszczyk, Maria; Gigli, Marta; Lopez, Esther Gonzalez; Goudal, Adeline; Graw, Sharon; Guipponi, Michel; Haan, Eric; Haas, Jan; Hammersley, Daniel J; Hansen, Frederikke G; Hayward, Christopher S; Hey, Thomas Morris; Heymans, Stephane; Ho, Carolyn Y; Houweling, Arjan C; Ingles, Jodie; Ingrey, Angela; Jabbour, Andrew; James, Paul A; Jansweijer, Joeri A; Jongbloed, Jan D H; Keogh, Anne M; Larrañaga-Moreira, Jose M; Lekanne Deprez, Ronald H; Macciocca, Ivan; Macdonald, Peter S; Mansencal, Nicolas; Mansour, Julia; Martinez-Veira, Cristina; McDonough, Barbara; McGaughran, Julie; Medo, Kristen; Merlo, Marco; Michalak, Ewa; Monserrat, Lorenzo; Mountain, Helen; Muller, Steven A; Murphy, Anne M; Murray, Brittney; Oates, Emily C; Ormondroyd, Elizabeth; Pachter, Nicholas; Paldino, Alessia; Palmyre, Aurélien; Pereira, Naveen L; Picard, Kermshlise C; Poplawski, Nicola; Prasad, Sanjay; Proukhnitzky, Julie; Pruny, Jean-Francois; Reant, Patricia; Richard, Pascale; Ronan, Anne; Sedaghat-Hamedani, Farbod; Semsarian, Christopher; Storm, Garrett; Stroeks, Sophie; Syrris, Petros; Taylor, Matthew R G; Thomson, Kate; Thompson, Tina; van Tintelen, J Peter; Vissing, Christoffer Rasmus; Waddell-Smith, Kathryn E; Wallis, Mathew; Zentner, Dominica; Arnott, Clare; Marian, Ali J; Oh, Jaewon; Fokstuen, Siv; James, Cynthia A; Barriales-Villa, Roberto; Meder, Benjamin; Wahbi, Karim; Giudicessi, John R; Parikh, Victoria N; Ware, James S; Piriou, Nicolas; Rooryck, Caroline; Lakdawala, Neal K; Mestroni, Luisa; Sinagra, Gianfranco; Elliott, Perry M; Watkins, Hugh; McNally, Elizabeth M; Charron, Philippe; van Spaendonck-Zwarts, Karin Y; Garcia-Pavia, Pablo; Peña-Peña, Maria Luisa; Mogensen, Jens; Christensen, Alex Hoerby; Bilińska, Zofia T; Rasmussen, Torsten B; Seidman, Jonathan G; Seidman, Christine E; Te Riele, Anneline S J M; Verdonschot, Job A J; Pinto, Yigal M; Christiaans, Imke; Fatkin, Diane

Case Report: Expanded delineation of phenotype of TRPM3-related neurodevelopmental disorders

病例报告:TRPM3相关神经发育障碍表型的扩展描述

Pawelak, Agnieszka; Polczyk, Artur; Wolańska, Ewelina; Kłaniewska, Magdalena; Biela, Mateusz; Basiak, Aleksander; Franaszczyk, Maria; Rydzanicz, Małgorzata; Płoski, Rafał; Śmigiel, Robert

Spectrum of transthyretin gene mutations and clinical characteristics of Polish patients with cardiac transthyretin amyloidosis

波兰心脏转甲状腺素蛋白淀粉样变性患者的转甲状腺素蛋白基因突变谱及临床特征

Gawor, Monika; Holcman, Katarzyna; Franaszczyk, Maria; Lipowska, Marta; Michałek, Piotr; Teresińska, Anna; Bilińska, Zofia T; Rubiś, Paweł; Kostkiewicz, Magdalena; Szot, Wojciech; Podolec, Piotr; Grzybowski, Jacek

Titin-Related Dilated Cardiomyopathy: The Clinical Trajectory and the Role of Circulating Biomarkers in the Clinical Assessment

肌联蛋白相关扩张型心肌病:临床轨迹及循环生物标志物在临床评估中的作用

Chmielewski, Przemysław; Truszkowska, Grażyna; Kowalik, Ilona; Rydzanicz, Małgorzata; Michalak, Ewa; Sobieszczańska-Małek, Małgorzata; Franaszczyk, Maria; Stawiński, Piotr; Stępień-Wojno, Małgorzata; Oręziak, Artur; Lewandowski, Michał; Leszek, Przemysław; Bilińska, Maria; Zieliński, Tomasz; Płoski, Rafał; Bilińska, Zofia T

Pathogenic variants in plakophilin-2 gene (PKP2) are associated with better survival in arrhythmogenic right ventricular cardiomyopathy

plakophilin-2 基因 (PKP2) 的致病性变异与致心律失常性右室心肌病患者的较好生存率相关。

Biernacka, Elżbieta K; Borowiec, Karolina; Franaszczyk, Maria; Szperl, Małgorzata; Rampazzo, Alessandra; Woźniak, Olgierd; Roszczynko, Marta; Śmigielski, Witold; Lutyńska, Anna; Hoffman, Piotr

A combination of quinidine/mexiletine reduces arrhythmia in dilated cardiomyopathy in two patients with R814W SCN5A mutation

奎尼丁/美西律联合用药可降低两名携带R814W SCN5A突变的扩张型心肌病患者的心律失常发生率。

Zakrzewska-Koperska, Joanna; Bilińska, Zofia T; Truszkowska, Grażyna T; Franaszczyk, Maria; Elikowski, Waldemar; Warmiński, Grzegorz; Kalin, Katarzyna; Urbanek, Piotr; Bodalski, Robert; Orczykowski, Michał; Szumowski, Łukasz; Płoski, Rafał; Bilińska, Maria

A novel truncating variant in the LAMP2 gene in a young woman with hypertrophic cardiomyopathy and variable clinical course in the family

家族中一名患有肥厚型心肌病且临床病程多变的年轻女性,其LAMP2基因中存在一种新的截断变异。

Michalak, Ewa; Franaszczyk, Maria; Sobieszczanska-Malek, Malgorzata; Karcz, Maciej; Szymanska, Sylwia; Szczygiel, Justyna; Lutynska, Anna; Ploski, Rafal; Bilinska, Zofia T

Analysis of De Novo Mutations in Sporadic Cardiomyopathies Emphasizes Their Clinical Relevance and Points to Novel Candidate Genes

对散发性心肌病中新发突变的分析强调了其临床意义并指出了新的候选基因

Maria Franaszczyk ,Grazyna Truszkowska ,Przemyslaw Chmielewski ,Malgorzata Rydzanicz ,Joanna Kosinska ,Tomasz Rywik ,Anna Biernacka ,Mateusz Spiewak ,Grazyna Kostrzewa ,Malgorzata Stepien-Wojno ,Piotr Stawinski ,Maria Bilinska ,Pawel Krajewski ,Tomasz Zielinski ,Anna Lutynska ,Zofia T Bilinska ,Rafal Ploski

Can Circulating Cardiac Biomarkers Be Helpful in the Assessment of LMNA Mutation Carriers?

循环心脏生物标志物能否用于评估LMNA基因突变携带者?

Chmielewski, Przemyslaw; Michalak, Ewa; Kowalik, Ilona; Franaszczyk, Maria; Sobieszczanska-Malek, Malgorzata; Truszkowska, Grazyna; Stepien-Wojno, Malgorzata; Biernacka, Elzbieta Katarzyna; Foss-Nieradko, Bogna; Lewandowski, Michal; Oreziak, Artur; Bilinska, Maria; Kusmierczyk, Mariusz; Tesson, Frédérique; Grzybowski, Jacek; Zielinski, Tomasz; Ploski, Rafal; Bilinska, Zofia T