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JUVENILE MYELOMONOCYTIC LEUKEMIA WITH TELOMERE SHORTENING: CASE REPORT 伴有端粒缩短的幼年骨髓单核细胞白血病：病例报告
EJC paediatric oncology Pub Date : 2023-12-01 DOI: 10.1016/j.ejcped.2023.100111
Anita Frisanco Oliveira , Rafael Balceiro , Neysimelia Costa Villela , Luiz Fernando Lopes
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引用次数: 0
ILLUSTRATION OF CLONAL ARCHITECTURE IN JUVENILE MYELOMONOCYTIC LEUKEMIA BY TARGETED SINGLE-CELL DNA SEQUENCING 通过靶向单细胞 DNA 测序说明幼年骨髓单核细胞白血病的克隆结构
EJC paediatric oncology Pub Date : 2023-12-01 DOI: 10.1016/j.ejcped.2023.100064
Foued Ghanjati , Miriam Erlacher , Dirk Lebrecht , Peter Nöllke , Franco Locatelli , European Working Group Of Myelodysplastic Syndromes In Childhood , Charlotte Niemeyer , Christian Flotho
{"title":"ILLUSTRATION OF CLONAL ARCHITECTURE IN JUVENILE MYELOMONOCYTIC LEUKEMIA BY TARGETED SINGLE-CELL DNA SEQUENCING","authors":"Foued Ghanjati , Miriam Erlacher , Dirk Lebrecht , Peter Nöllke , Franco Locatelli , European Working Group Of Myelodysplastic Syndromes In Childhood , Charlotte Niemeyer , Christian Flotho","doi":"10.1016/j.ejcped.2023.100064","DOIUrl":"https://doi.org/10.1016/j.ejcped.2023.100064","url":null,"abstract":"","PeriodicalId":94314,"journal":{"name":"EJC paediatric oncology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772610X23000624/pdfft?md5=0f7b340a394fcec8960d0774732840f2&pid=1-s2.0-S2772610X23000624-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138738836","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
SPECTRUM OF CLINICAL PHENOTYPES AND SOMATIC VARIANTS IN RUNX1-ASSOCIATED FAMILIAL PLATELET DISORDER WITH PREDISPOSITION TO HEMATOLOGIC MALIGNANCIES runx1相关家族性血小板紊乱伴血液系统恶性肿瘤易感性的临床表型谱和体细胞变异基因
EJC paediatric oncology Pub Date : 2023-12-01 DOI: 10.1016/j.ejcped.2023.100068
Alisa Förster, Melanie Decker, Yvonne L. Behrens, Gudrun Göhring, Brigitte Schlegelberger, Tim Ripperger
{"title":"SPECTRUM OF CLINICAL PHENOTYPES AND SOMATIC VARIANTS IN RUNX1-ASSOCIATED FAMILIAL PLATELET DISORDER WITH PREDISPOSITION TO HEMATOLOGIC MALIGNANCIES","authors":"Alisa Förster, Melanie Decker, Yvonne L. Behrens, Gudrun Göhring, Brigitte Schlegelberger, Tim Ripperger","doi":"10.1016/j.ejcped.2023.100068","DOIUrl":"https://doi.org/10.1016/j.ejcped.2023.100068","url":null,"abstract":"","PeriodicalId":94314,"journal":{"name":"EJC paediatric oncology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772610X23000661/pdfft?md5=9b797bf624a949166df066cb20a6f31b&pid=1-s2.0-S2772610X23000661-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138738840","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
CHILDHOOD MYELODYSPLASTIC NEOPLASM: GENETIC VARIANTS AND THEIR IMPACT ON DIAGNOSIS AND PROGNOSIS 儿童骨髓增生异常肿瘤：基因变异及其对诊断和预后的影响
EJC paediatric oncology Pub Date : 2023-12-01 DOI: 10.1016/j.ejcped.2023.100085
Viviane Lovatel , Eliane Rodrigues , Gerson Ferreira , Claudia Atayde , Rita De Cássia Tavares , Ana Paula Bueno , Eliana Abdelhay , Teresa Fernandez
{"title":"CHILDHOOD MYELODYSPLASTIC NEOPLASM: GENETIC VARIANTS AND THEIR IMPACT ON DIAGNOSIS AND PROGNOSIS","authors":"Viviane Lovatel , Eliane Rodrigues , Gerson Ferreira , Claudia Atayde , Rita De Cássia Tavares , Ana Paula Bueno , Eliana Abdelhay , Teresa Fernandez","doi":"10.1016/j.ejcped.2023.100085","DOIUrl":"https://doi.org/10.1016/j.ejcped.2023.100085","url":null,"abstract":"","PeriodicalId":94314,"journal":{"name":"EJC paediatric oncology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772610X23000831/pdfft?md5=46befc1e7d2b8bf2005d05b5c5505bb3&pid=1-s2.0-S2772610X23000831-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138738860","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
IDENTIFICATION OF FUNCTIONAL DEFECTS LEADING TO BONE MARROW FAILURE IN GATA2 DEFICIENCY 鉴定导致 Gata2 缺乏症骨髓衰竭的功能缺陷
EJC paediatric oncology Pub Date : 2023-12-01 DOI: 10.1016/j.ejcped.2023.100087
Charlotte Wantzen , Baris Yigit , Yuan Suo , Roland Meisel , Shu Zang , Julia Miriam Weiss , Juncal Fernandez-Orth , Miriam Erlacher
{"title":"IDENTIFICATION OF FUNCTIONAL DEFECTS LEADING TO BONE MARROW FAILURE IN GATA2 DEFICIENCY","authors":"Charlotte Wantzen , Baris Yigit , Yuan Suo , Roland Meisel , Shu Zang , Julia Miriam Weiss , Juncal Fernandez-Orth , Miriam Erlacher","doi":"10.1016/j.ejcped.2023.100087","DOIUrl":"https://doi.org/10.1016/j.ejcped.2023.100087","url":null,"abstract":"","PeriodicalId":94314,"journal":{"name":"EJC paediatric oncology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772610X23000855/pdfft?md5=ed1d5e1a87f8734752564da3255c81aa&pid=1-s2.0-S2772610X23000855-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138738862","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
JMML WITH NRAS MUTATION IN ELANE ASSOCIATED SEVERE CONGENITAL NEUTROPENIA 伊兰伴发重度先天性中性粒细胞减少症的JMML与NRAS突变
EJC paediatric oncology Pub Date : 2023-12-01 DOI: 10.1016/j.ejcped.2023.100102
Hilde Hylland Uhlving , Dorthe Grosen , Mathias Rathe , Mette Klarskov , Henrik Hasle , Tania Nicole Masmas
{"title":"JMML WITH NRAS MUTATION IN ELANE ASSOCIATED SEVERE CONGENITAL NEUTROPENIA","authors":"Hilde Hylland Uhlving , Dorthe Grosen , Mathias Rathe , Mette Klarskov , Henrik Hasle , Tania Nicole Masmas","doi":"10.1016/j.ejcped.2023.100102","DOIUrl":"https://doi.org/10.1016/j.ejcped.2023.100102","url":null,"abstract":"","PeriodicalId":94314,"journal":{"name":"EJC paediatric oncology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772610X23001009/pdfft?md5=211a30715e832e1900afeec1c4a239be&pid=1-s2.0-S2772610X23001009-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138738877","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
THE NEW KID ON THE BLOCK: UBTF-TD 新生力量：UBTF-TD
EJC paediatric oncology Pub Date : 2023-12-01 DOI: 10.1016/j.ejcped.2023.100047
Miriam Erlacher
{"title":"THE NEW KID ON THE BLOCK: UBTF-TD","authors":"Miriam Erlacher","doi":"10.1016/j.ejcped.2023.100047","DOIUrl":"https://doi.org/10.1016/j.ejcped.2023.100047","url":null,"abstract":"","PeriodicalId":94314,"journal":{"name":"EJC paediatric oncology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772610X23000454/pdfft?md5=e8f2c6834cc240ece4fec889b8b25049&pid=1-s2.0-S2772610X23000454-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138738618","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
OPTICAL GENOME MAPPING: A NEW TOOL TO OVERCOME CONVENTIONAL CYTOGENETICS’ LIMITATIONS IN PATIENTS WITH BONE MARROW FAILURE. 光学基因组图谱：克服骨髓衰竭患者传统细胞遗传学局限性的新工具。
EJC paediatric oncology Pub Date : 2023-12-01 DOI: 10.1016/j.ejcped.2023.100056
Josune Zubicaray, Ana Gomez, June Iriondo, Reyes Gimenez, Lorea Abad, Carmen Matasans, Elena Sebastian, Alejandro Sanz, Jesus Gonzalez De Pablo, Manuel Ramirez, Julian Sevilla
{"title":"OPTICAL GENOME MAPPING: A NEW TOOL TO OVERCOME CONVENTIONAL CYTOGENETICS’ LIMITATIONS IN PATIENTS WITH BONE MARROW FAILURE.","authors":"Josune Zubicaray, Ana Gomez, June Iriondo, Reyes Gimenez, Lorea Abad, Carmen Matasans, Elena Sebastian, Alejandro Sanz, Jesus Gonzalez De Pablo, Manuel Ramirez, Julian Sevilla","doi":"10.1016/j.ejcped.2023.100056","DOIUrl":"https://doi.org/10.1016/j.ejcped.2023.100056","url":null,"abstract":"","PeriodicalId":94314,"journal":{"name":"EJC paediatric oncology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772610X23000545/pdfft?md5=926f14cec010fe725d3e182efa3348e3&pid=1-s2.0-S2772610X23000545-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138738627","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
VENETOCLAX-BASED THERAPIES IN PEDIATRIC ADVANCED MDS AND RELAPSED/REFRACTORY AML: A MULTICENTER RETROSPECTIVE ANALYSIS 以 Venetoclax 为基础的疗法在儿科晚期 MDS 和复发/难治性 AML 中的应用：多中心回顾性分析
EJC paediatric oncology Pub Date : 2023-12-01 DOI: 10.1016/j.ejcped.2023.100060
Riccardo Masetti , Francesco Baccelli , Davide Leardini , Francesca Gottardi , Francesca Vendemini , Alessandro Digangi , Marco Becilli , Mariachiara Lodi , Manuela Tumino , Luca Vinci , Miriam Erlacher , Brigitte Strahm , Charlotte M. Niemeyer , Franco Locatelli
{"title":"VENETOCLAX-BASED THERAPIES IN PEDIATRIC ADVANCED MDS AND RELAPSED/REFRACTORY AML: A MULTICENTER RETROSPECTIVE ANALYSIS","authors":"Riccardo Masetti , Francesco Baccelli , Davide Leardini , Francesca Gottardi , Francesca Vendemini , Alessandro Digangi , Marco Becilli , Mariachiara Lodi , Manuela Tumino , Luca Vinci , Miriam Erlacher , Brigitte Strahm , Charlotte M. Niemeyer , Franco Locatelli","doi":"10.1016/j.ejcped.2023.100060","DOIUrl":"https://doi.org/10.1016/j.ejcped.2023.100060","url":null,"abstract":"","PeriodicalId":94314,"journal":{"name":"EJC paediatric oncology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772610X23000582/pdfft?md5=95b7aa22cec8b7391801161f7e2d78e1&pid=1-s2.0-S2772610X23000582-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138738631","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
ASSOCIATION AND INTERACTIONS OF THE RIO KINASES IN THE CONTEXT OF DIAMOND-BLACKFAN ANEMIA 菱形黑范氏贫血症中里奥激酶的关联和相互作用
EJC paediatric oncology Pub Date : 2023-12-01 DOI: 10.1016/j.ejcped.2023.100070
Hans-Dajo Von Wulffen , Sheila Bohler , Corinna Spohr , Tilman Brummer , Pierre-Emmanuel Gleizes , Alexander Puzik , Charlotte Niemeyer , Miriam Erlacher
{"title":"ASSOCIATION AND INTERACTIONS OF THE RIO KINASES IN THE CONTEXT OF DIAMOND-BLACKFAN ANEMIA","authors":"Hans-Dajo Von Wulffen , Sheila Bohler , Corinna Spohr , Tilman Brummer , Pierre-Emmanuel Gleizes , Alexander Puzik , Charlotte Niemeyer , Miriam Erlacher","doi":"10.1016/j.ejcped.2023.100070","DOIUrl":"https://doi.org/10.1016/j.ejcped.2023.100070","url":null,"abstract":"","PeriodicalId":94314,"journal":{"name":"EJC paediatric oncology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772610X23000685/pdfft?md5=c9101bd98df22f73d6bf0ed39ec4b553&pid=1-s2.0-S2772610X23000685-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138738842","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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