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Monitoring des nicht-invasiven Pränataltests (NIPT). 非侵入性产前检测（NIPT）。
IF 1.4 4区 生物学
Medizinische Genetik
Pub Date : 2024-12-03 eCollection Date: 2024-12-01 DOI: 10.1515/medgen-2024-2052
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引用次数: 0
Bonn: Prof. Silvia Paracchini, PhD, Professor of Neurodevelopmental Genomics. 波恩：神经发育基因组学教授Silvia Paracchini博士。
IF 1.4 4区 生物学
Medizinische Genetik
Pub Date : 2024-12-03 eCollection Date: 2024-12-01 DOI: 10.1515/medgen-2024-2048
Silvia Paracchini
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引用次数: 0
Ankündigung der GfH-Jahrestagung 2025Grußwort des Tagungspräsidenten: Genetics connects - Genetik verbindet. GfH 2025年年会主席致辞：基因连接。
IF 1.4 4区 生物学
Medizinische Genetik
Pub Date : 2024-12-03 eCollection Date: 2024-12-01 DOI: 10.1515/medgen-2024-2047
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引用次数: 0
Nachruf John M. Opitz, geboren in Hamburg am 15.08.1935, verstorben 31. Oktober 2023 in Salt Lake City, Utah, U. S. A. Nachruf John M. Opitz， 1935年8月15日在汉堡出生。2023年10月在美国犹他州盐湖城举行。
IF 1.4 4区 生物学
Medizinische Genetik
Pub Date : 2024-12-03 eCollection Date: 2024-12-01 DOI: 10.1515/medgen-2024-2055
Anita Rauch, André Reis
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引用次数: 0
Ein Geburtstagsgruß für Tiemo Grimm zum 80. Geburtstag. “蒂莫·格林80岁生日问候”。.生日
IF 1.4 4区 生物学
Medizinische Genetik
Pub Date : 2024-12-03 eCollection Date: 2024-12-01 DOI: 10.1515/medgen-2024-2044
Klaus Zerres
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引用次数: 0
Bonn: Prof. Dr. rer. nat. Kerstin U. Ludwig W2-Professur Immungenetik. 波恩：教授博士。Kerstin U. Ludwig W2免疫遗传学教授。
IF 1.4 4区 生物学
Medizinische Genetik
Pub Date : 2024-12-03 eCollection Date: 2024-12-01 DOI: 10.1515/medgen-2024-2054
Kerstin U Ludwig
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引用次数: 0
Clinical diagnosis of the monogenic Ehlers-Danlos syndromes. 单基因Ehlers-Danlos综合征的临床诊断。
IF 1.1 4区 生物学
Medizinische Genetik
Pub Date : 2024-12-03 eCollection Date: 2024-12-01 DOI: 10.1515/medgen-2024-2060
Fleur S van Dijk, Chloe Angwin, Serwet Demirdas, Neeti Ghali, Johannes Zschocke

Monogenic Ehlers-Danlos syndromes (EDS) are a group of inherited connective tissue conditions that are clinically characterised by joint hypermobility, skin hyperextensibility and/or fragility, and generalised tissue fragility. Gene panel testing with massively parallel sequencing is currently gold standard to confirm diagnoses of the monogenic EDS types. We aim to report on the (combination of) clinical features of the monogenic EDS types through text and photographs, to aid clinical diagnosis as despite the significant progress in genetic testing possibilities, a thorough clinical assessment which includes medical history, family history and physical examination remains important in the diagnostic process. In addition, in those cases where no molecular diagnosis is possible, a clinical diagnosis can still guide management and surveillance.

单基因ehers - danlos综合征（EDS）是一组遗传性结缔组织疾病，其临床特征为关节过度活动、皮肤过度伸展和/或脆弱，以及普遍的组织脆弱。大规模平行测序的基因面板检测是目前确认单基因EDS类型诊断的金标准。我们的目标是通过文本和照片报告单基因EDS类型的临床特征（组合），以帮助临床诊断，尽管基因检测的可能性取得了重大进展，但在诊断过程中，包括病史、家族史和体格检查在内的全面临床评估仍然很重要。此外，在无法进行分子诊断的情况下，临床诊断仍然可以指导管理和监测。
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引用次数: 0
Tagungsbericht Syndromtag vom 04.-05.10.2024 in Göttingen: Erkrankungen mit beschleunigter Alterung und Genominstabilität. 2018年10月4日至10月5日在Gottingen举行的Syndromtag会议报告：Erkrankungen mit加速衰老和基因组稳定。
IF 1.1 4区 生物学
Medizinische Genetik
Pub Date : 2024-12-03 eCollection Date: 2024-12-01 DOI: 10.1515/medgen-2024-2057
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引用次数: 0
Editorial. 社论。
IF 1.1 4区 生物学
Medizinische Genetik
Pub Date : 2024-12-03 eCollection Date: 2024-12-01 DOI: 10.1515/medgen-2024-2050
Johannes Zschocke, Fleur S van Dijk
{"title":"Editorial.","authors":"Johannes Zschocke, Fleur S van Dijk","doi":"10.1515/medgen-2024-2050","DOIUrl":"https://doi.org/10.1515/medgen-2024-2050","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"36 4","pages":"223-224"},"PeriodicalIF":1.1,"publicationDate":"2024-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11610433/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142774419","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 neue, mit den Fachgruppen "konsentierte" Fassung der GOÄ - eine unendliche Geschichte mit inakzeptablem Ende. 这一集的结尾是一个“未完成的故事”，讲述的是一个不确定的结局。
IF 1.4 4区 生物学
Medizinische Genetik
Pub Date : 2024-12-03 eCollection Date: 2024-12-01 DOI: 10.1515/medgen-2024-2051
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引用次数: 0
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