发布求助
文献互助 智能选刊 最新文献

Medizinische Genetik最新文献

筛选
英文 中文
Genetic studies in clonal haematopoiesis, myelodysplastic neoplasms and acute myeloid leukaemia – a practical guide to WHO-HAEM5 克隆性造血、骨髓增生异常肿瘤和急性髓性白血病的基因研究--WHO-HAEM5 实用指南
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2024-03-04 DOI: 10.1515/medgen-2024-2010
Katharina Hörst, Constanze Kühn, C. Haferlach, T. Haferlach, Joseph D. Khoury
{"title":"Genetic studies in clonal haematopoiesis, myelodysplastic neoplasms and acute myeloid leukaemia – a practical guide to WHO-HAEM5","authors":"Katharina Hörst, Constanze Kühn, C. Haferlach, T. Haferlach, Joseph D. Khoury","doi":"10.1515/medgen-2024-2010","DOIUrl":"https://doi.org/10.1515/medgen-2024-2010","url":null,"abstract":"\u0000 In recent years, technology developments and increase in knowledge have led to profound changes in the diagnostics of haematologic neoplasms, particularly myeloid neoplasms. Therefore an updated, fifth edition of the World Health Organization (WHO) classification of haematolymphoid neoplasms (WHO-HAEM5) will be issued in 2024. In this context, we present a practical guide for analysing the genetic aspects of clonal haematopoiesis of indeterminate potential (CHIP), clonal cytopenia of undetermined significance (CCUS), myelodysplastic neoplasms (MDS), and acute myeloid leukaemia (AML) based on WHO-HAEM5. This guide navigates through the genetic abnormalities underlying myeloid neoplasms which are required to be detected for classification according to WHO-HAEM5 and provides diagnostic algorithms.","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"103 23","pages":""},"PeriodicalIF":1.1,"publicationDate":"2024-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140079894","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genetic alterations in mature B- and T-cell lymphomas – a practical guide to WHO-HAEM5 成熟 B 细胞和 T 细胞淋巴瘤的基因改变--WHO-HAEM5 实用指南
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2024-03-04 DOI: 10.1515/medgen-2024-2005
Cristina López, Anja Fischer, Andreas Rosenwald, R. Siebert, G. Ott, Katrin S. Kurz
{"title":"Genetic alterations in mature B- and T-cell lymphomas – a practical guide to WHO-HAEM5","authors":"Cristina López, Anja Fischer, Andreas Rosenwald, R. Siebert, G. Ott, Katrin S. Kurz","doi":"10.1515/medgen-2024-2005","DOIUrl":"https://doi.org/10.1515/medgen-2024-2005","url":null,"abstract":"\u0000 The identification of recurrent genomic alterations in tumour cells has a significant role in the classification of mature B- and T-cell lymphomas. Following the development of new technologies, such as next generation sequencing and the improvement of classical technologies such as conventional and molecular cytogenetics, a huge catalogue of genomic alterations in lymphoid neoplasms has been established. These alterations are relevant to refine the taxonomy of the classification of lymphomas, to scrutinize the differential diagnosis within different lymphoma entities and to help assessing the prognosis and clinical management of the patients. Consequently, here we describe the key genetic alterations relevant in mature B- and T-cell lymphomas.","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"29 9","pages":""},"PeriodicalIF":1.1,"publicationDate":"2024-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140080662","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Jahresberichte 2023 aus den GfH-Kommissionen und GfH-Arbeitskreisen 全球健康论坛各委员会和全球健康论坛工作组的 2023 年年度报告
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2024-03-04 DOI: 10.1515/medgen-2024-2013
{"title":"Jahresberichte 2023 aus den GfH-Kommissionen und GfH-Arbeitskreisen","authors":"","doi":"10.1515/medgen-2024-2013","DOIUrl":"https://doi.org/10.1515/medgen-2024-2013","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"71 7","pages":""},"PeriodicalIF":1.1,"publicationDate":"2024-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140080419","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Laborqualität sichern – molekular- und zytogenetische Ringversuche des BVDH e. V. 确保实验室质量 - BVDH e. V.的分子和细胞遗传能力测试
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2024-03-04 DOI: 10.1515/medgen-2024-2011
J. Kunz, S. Brandt
{"title":"Laborqualität sichern – molekular- und zytogenetische Ringversuche des BVDH e. V.","authors":"J. Kunz, S. Brandt","doi":"10.1515/medgen-2024-2011","DOIUrl":"https://doi.org/10.1515/medgen-2024-2011","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"44 4","pages":""},"PeriodicalIF":1.1,"publicationDate":"2024-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140080717","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Deutsche Gesellschaft für Humangenetik e.V. (GfH): 23.10.2023 Stellungnahme der Deutschen Gesellschaft für Humangenetik zum Umfang der genetischen Pränataldiagnostik bei auffälligen Ultraschallbefunden. Deutsche Gesellschaft für Humangenetik e.V. (GfH)：23.10.2023 德国人类遗传学会关于异常超声波发现的遗传产前诊断范围的声明。
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2023-12-05 eCollection Date: 2023-12-01 DOI: 10.1515/medgen-2023-2059
{"title":"Deutsche Gesellschaft für Humangenetik e.V. (GfH): 23.10.2023 Stellungnahme der Deutschen Gesellschaft für Humangenetik zum Umfang der genetischen Pränataldiagnostik bei auffälligen Ultraschallbefunden.","authors":"","doi":"10.1515/medgen-2023-2059","DOIUrl":"10.1515/medgen-2023-2059","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"35 4","pages":"307-311"},"PeriodicalIF":1.1,"publicationDate":"2023-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11006311/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141263262","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Epilepsy and genetics. 癫痫与遗传学
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2022-09-22 eCollection Date: 2022-10-01 DOI: 10.1515/medgen-2022-2142
Johannes R Lemke
{"title":"Epilepsy and genetics.","authors":"Johannes R Lemke","doi":"10.1515/medgen-2022-2142","DOIUrl":"10.1515/medgen-2022-2142","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"34 3","pages":"199-200"},"PeriodicalIF":1.1,"publicationDate":"2022-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11006258/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141249049","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Mitteilungen des Berufsverbandes Deutscher Humangenetiker e.V: Teamwork für eine bessere VersorgungNationale Allianz für seltene genetische Erkrankungen. Mitteilungen des Berufsverbandes Deutscher Humangenetiker e.V.: Teamwork for better careNational Alliance for Rare Genetic Diseases.
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2022-09-22 eCollection Date: 2022-10-01 DOI: 10.1515/medgen-2022-2153
{"title":"Mitteilungen des Berufsverbandes Deutscher Humangenetiker e.V: Teamwork für eine bessere VersorgungNationale Allianz für seltene genetische Erkrankungen.","authors":"","doi":"10.1515/medgen-2022-2153","DOIUrl":"https://doi.org/10.1515/medgen-2022-2153","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"34 3","pages":"255"},"PeriodicalIF":1.1,"publicationDate":"2022-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11006310/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141249051","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Population-based screening in children for early diagnosis and treatment of familial hypercholesterolemia: design of the VRONI study. 为早期诊断和治疗家族性高胆固醇血症而对儿童进行的人群筛查：VRONI 研究的设计。
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2022-05-07 eCollection Date: 2022-04-01 DOI: 10.1515/medgen-2022-2115
Veronika Sanin, Raphael Schmieder, Sara Ates, Lea Dewi Schlieben, Jens Wiehler, Ruoyu Sun, Manuela Decker, Michaela Sander, Stefan Holdenrieder, Florian Kohlmayer, Anna Friedmann, Volker Mall, Therese Feiler, Arne Dreßler, Tim M Strom, Holger Prokisch, Thomas Meitinger, Moritz von Scheidt, Wolfgang Koenig, Georg Leipold, Heribert Schunkert
{"title":"Population-based screening in children for early diagnosis and treatment of familial hypercholesterolemia: design of the VRONI study.","authors":"Veronika Sanin, Raphael Schmieder, Sara Ates, Lea Dewi Schlieben, Jens Wiehler, Ruoyu Sun, Manuela Decker, Michaela Sander, Stefan Holdenrieder, Florian Kohlmayer, Anna Friedmann, Volker Mall, Therese Feiler, Arne Dreßler, Tim M Strom, Holger Prokisch, Thomas Meitinger, Moritz von Scheidt, Wolfgang Koenig, Georg Leipold, Heribert Schunkert","doi":"10.1515/medgen-2022-2115","DOIUrl":"10.1515/medgen-2022-2115","url":null,"abstract":"<p><p>Familial hypercholesterolemia (FH) is the most frequent monogenic disorder (prevalence 1:250) in the general population. Early diagnosis during childhood enables pre-emptive treatment, thus reducing the risk of severe atherosclerotic manifestations later in life. Nonetheless, FH screening programs are scarce. VRONI offers all children aged 5-14 years in Bavaria a FH screening in the context of regular pediatric visits. LDL-cholesterol (LDL-C) is measured centrally, followed by genetic analysis for FH if exceeding the age-specific 95th percentile (130 mg/dl, 3.34 mmol/l). Children with FH pathogenic variants are treated by specialized pediatricians and offered a FH-focused training course by a qualified training center. Reverse cascade screening is recommended for all first-degree relatives. VRONI aims to prove the feasibility of a population-based FH screening in children and to lay the foundation for a nationwide screening program.</p>","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"34 1","pages":"41-51"},"PeriodicalIF":1.1,"publicationDate":"2022-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11006262/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141249045","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Aktuelle Nachrichten. 最新消息
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2022-05-07 eCollection Date: 2022-04-01 DOI: 10.1515/medgen-2022-2120
{"title":"Aktuelle Nachrichten.","authors":"","doi":"10.1515/medgen-2022-2120","DOIUrl":"https://doi.org/10.1515/medgen-2022-2120","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"34 1","pages":"89-91"},"PeriodicalIF":1.1,"publicationDate":"2022-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11006329/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141249043","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Die GfH-Juniorakademie 2021 – Persönliche Begegnungen wieder möglich gemacht. 2021 年的 GfH 初级学院--个人邂逅再次成为可能。
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2022-01-12 eCollection Date: 2021-12-01 DOI: 10.1515/medgen-2021-2104
{"title":"Die GfH-Juniorakademie 2021 – Persönliche Begegnungen wieder möglich gemacht.","authors":"","doi":"10.1515/medgen-2021-2104","DOIUrl":"https://doi.org/10.1515/medgen-2021-2104","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"33 4","pages":"363-366"},"PeriodicalIF":1.1,"publicationDate":"2022-01-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11113003/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141249039","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
首页 上一页 下一页 尾页
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整，为了账户安全，请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们：info@booksci.cn Book学术提供免费学术资源搜索服务，方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号：481959085
Book学术官方微信