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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
{"title":"Tagungsbericht Syndromtag vom 04.-05.10.2024 in Göttingen: Erkrankungen mit beschleunigter Alterung und Genominstabilität.","authors":"","doi":"10.1515/medgen-2024-2057","DOIUrl":"https://doi.org/10.1515/medgen-2024-2057","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"36 4","pages":"281-282"},"PeriodicalIF":1.1,"publicationDate":"2024-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11610440/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142774441","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 1.1 4区 生物学
Medizinische Genetik Pub Date : 2024-12-03 eCollection Date: 2024-12-01 DOI: 10.1515/medgen-2024-2051
{"title":"Die neue, mit den Fachgruppen \"konsentierte\" Fassung der GOÄ - eine unendliche Geschichte mit inakzeptablem Ende.","authors":"","doi":"10.1515/medgen-2024-2051","DOIUrl":"https://doi.org/10.1515/medgen-2024-2051","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"36 4","pages":"287"},"PeriodicalIF":1.1,"publicationDate":"2024-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11610429/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142774415","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
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
20 Jahre universitäre Humangenetik in Regensburg. 雷根斯堡大学人类遗传学20年。
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2024-12-03 eCollection Date: 2024-12-01 DOI: 10.1515/medgen-2024-2046
Bernhard H F Weber
{"title":"20 Jahre universitäre Humangenetik in Regensburg.","authors":"Bernhard H F Weber","doi":"10.1515/medgen-2024-2046","DOIUrl":"https://doi.org/10.1515/medgen-2024-2046","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"36 4","pages":"261-264"},"PeriodicalIF":1.1,"publicationDate":"2024-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11610432/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142774227","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
Non-genetic diagnostic investigations in monogenic Ehlers-Danlos syndromes. 单基因Ehlers-Danlos综合征的非基因诊断研究。
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2024-12-03 eCollection Date: 2024-12-01 DOI: 10.1515/medgen-2024-2062
Fleur S van Dijk, Chloe Angwin, Neeti Ghali, Johannes Zschocke, Bart Wagner
{"title":"Non-genetic diagnostic investigations in monogenic Ehlers-Danlos syndromes.","authors":"Fleur S van Dijk, Chloe Angwin, Neeti Ghali, Johannes Zschocke, Bart Wagner","doi":"10.1515/medgen-2024-2062","DOIUrl":"10.1515/medgen-2024-2062","url":null,"abstract":"<p><p>With increased application of Next Generation Sequencing (NGS) in the diagnosis of monogenic Ehlers-Danlos syndromes, there is an increased probability to identify variants of unknown significance. Additionally, in some cases no genetic alteration may be identified whilst there is a strong clinical suspicion on a monogenic EDS type. The diagnostic value of non-genetic investigations, which prior to NGS were quite commonly used to support the clinical diagnosis of monogenic EDS types, is explored. In addition, new structural/functional investigations that could deliver evidence towards pathogenicity are discussed. It appears that certain functional and/or structural investigations used frequently in the past can remain helpful and can provide additional evidence that may confirm a clinical diagnosis of a monogenic EDS type. However, there is a need for the development of novel structural/functional studies for monogenic types of EDS. The level of evidence of such studies for application in the established diagnostic DNA variant classification criteria remains to be determined.</p>","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"36 4","pages":"247-254"},"PeriodicalIF":1.1,"publicationDate":"2024-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11610441/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142774434","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
Reproduction, genetics, and health - a topic with implications far beyond infertility. 生殖、遗传和健康--这个话题的影响远远超出了不孕不育。
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2024-09-06 eCollection Date: 2024-09-01 DOI: 10.1515/medgen-2024-2037
Margot J Wyrwoll, Frank Tüttelmann
{"title":"Reproduction, genetics, and health - a topic with implications far beyond infertility.","authors":"Margot J Wyrwoll, Frank Tüttelmann","doi":"10.1515/medgen-2024-2037","DOIUrl":"https://doi.org/10.1515/medgen-2024-2037","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"36 3","pages":"159-160"},"PeriodicalIF":1.1,"publicationDate":"2024-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11380983/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142300322","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
Umsetzung der In-vitro-Diagnostik Verordnung (IVDR) in medizinischen Diagnostik-Einrichtungen: Dringende Maßnahmen zur Entlastung sind notwendig, um die in-vitro Diagnostik aufrecht zu erhalten: Gemeinsame Stellungnahme von BVDH, GfH, BDP, DGP, BDL, ALM und SpiFa. 在医疗诊断机构实施体外诊断条例（IVDR）：必须采取紧急措施减轻负担，以维持体外诊断：BVDH、GfH、BDP、DGP、BDL、ALM 和 SpiFa 的联合声明。
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2024-09-06 eCollection Date: 2024-09-01 DOI: 10.1515/medgen-2024-2042
{"title":"Umsetzung der In-vitro-Diagnostik Verordnung (IVDR) in medizinischen Diagnostik-Einrichtungen: Dringende Maßnahmen zur Entlastung sind notwendig, um die in-vitro Diagnostik aufrecht zu erhalten: Gemeinsame Stellungnahme von BVDH, GfH, BDP, DGP, BDL, ALM und SpiFa.","authors":"","doi":"10.1515/medgen-2024-2042","DOIUrl":"https://doi.org/10.1515/medgen-2024-2042","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"36 3","pages":"203-206"},"PeriodicalIF":1.1,"publicationDate":"2024-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11380985/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142300324","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
Protokoll der 36. ordentlichen Mitgliederversammlung der Deutschen Gesellschaft für Humangenetik am 02.06.2024 anlässlich der ESHG-Jahrestagung vom 01.–04. Juni 2024 in Berlin. 2024 年 6 月 2 日德国人类遗传学会第 36 届例行大会会议记录，2024 年 6 月 1 日至 4 日在柏林举行德国人类遗传学会年会。
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2024-09-06 eCollection Date: 2024-09-01 DOI: 10.1515/medgen-2024-2039
{"title":"Protokoll der 36. ordentlichen Mitgliederversammlung der Deutschen Gesellschaft für Humangenetik am 02.06.2024 anlässlich der ESHG-Jahrestagung vom 01.–04. Juni 2024 in Berlin.","authors":"","doi":"10.1515/medgen-2024-2039","DOIUrl":"https://doi.org/10.1515/medgen-2024-2039","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"36 3","pages":"209-214"},"PeriodicalIF":1.1,"publicationDate":"2024-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11381108/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142300320","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
10 Years of International Albinism Awareness: United Nations celebrate an anniversary and a decade of collective progress, but challenges remain. 国际白化病意识十年：联合国庆祝国际白化病宣传十年周年纪念和集体进步，但挑战依然存在。
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2024-09-06 eCollection Date: 2024-09-01 DOI: 10.1515/medgen-2024-2032
Gudrun A Rappold
{"title":"10 Years of International Albinism Awareness: United Nations celebrate an anniversary and a decade of collective progress, but challenges remain.","authors":"Gudrun A Rappold","doi":"10.1515/medgen-2024-2032","DOIUrl":"https://doi.org/10.1515/medgen-2024-2032","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"36 3","pages":"217-218"},"PeriodicalIF":1.1,"publicationDate":"2024-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11381229/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142300313","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
Nicht-invasiver Pränataltest (NIPT): Aktuelle gesundheitspolitische Initiativen und inhaltliche Missverständnisse. 无创产前检测（NIPT）：当前的卫生政策措施和误解。
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2024-09-06 eCollection Date: 2024-09-01 DOI: 10.1515/medgen-2024-2043
Bernd Eiben, Ralf Glaubitz, Peter Kozlowsk, Gudrun Göhring, Jörg Schmidtke, Michael Krawczak
{"title":"Nicht-invasiver Pränataltest (NIPT): Aktuelle gesundheitspolitische Initiativen und inhaltliche Missverständnisse.","authors":"Bernd Eiben, Ralf Glaubitz, Peter Kozlowsk, Gudrun Göhring, Jörg Schmidtke, Michael Krawczak","doi":"10.1515/medgen-2024-2043","DOIUrl":"https://doi.org/10.1515/medgen-2024-2043","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"36 3","pages":"189-192"},"PeriodicalIF":1.1,"publicationDate":"2024-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11380932/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142300319","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
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