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Medizinische Genetik最新文献

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Bern: PD Dr. rer. nat. Anne Gregor Habilitation zum Thema "Modellsysteme für neuronale Entwicklungsstörungen". 柏林：PD博士。安妮·格雷戈尔关于“神经发育障碍的模型系统”的适应。
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2024-12-03 eCollection Date: 2024-12-01 DOI: 10.1515/medgen-2024-2045
Anne Gregor
{"title":"Bern: PD Dr. rer. nat. Anne Gregor Habilitation zum Thema \"Modellsysteme für neuronale Entwicklungsstörungen\".","authors":"Anne Gregor","doi":"10.1515/medgen-2024-2045","DOIUrl":"https://doi.org/10.1515/medgen-2024-2045","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"36 4","pages":"265"},"PeriodicalIF":1.1,"publicationDate":"2024-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11610439/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142774370","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
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 1.1 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
{"title":"Bonn: Prof. Silvia Paracchini, PhD, Professor of Neurodevelopmental Genomics.","authors":"Silvia Paracchini","doi":"10.1515/medgen-2024-2048","DOIUrl":"https://doi.org/10.1515/medgen-2024-2048","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"36 4","pages":"269-270"},"PeriodicalIF":1.1,"publicationDate":"2024-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11610434/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142774304","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
Genetic diagnosis of the Ehlers-Danlos syndromes. 埃勒-丹洛斯综合征的遗传诊断。
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2024-12-03 eCollection Date: 2024-12-01 DOI: 10.1515/medgen-2024-2061
Johannes Zschocke, Serwet Demirdas, Fleur S van Dijk
{"title":"Genetic diagnosis of the Ehlers-Danlos syndromes.","authors":"Johannes Zschocke, Serwet Demirdas, Fleur S van Dijk","doi":"10.1515/medgen-2024-2061","DOIUrl":"10.1515/medgen-2024-2061","url":null,"abstract":"<p><p>The Ehlers-Danlos syndromes (EDS) represent a group of genetically diverse disorders characterized by the variable combination of joint hypermobility, hyperextensibility of the skin, and connective tissue fragility affecting the skin and other organs. Based on clinical features, 13 different types of EDS have been delineated, 12 of which represent monogenic conditions caused by pathogenic variants in 21 confirmed genes. Pathogenesis is related to disturbances of collagen formation and/or stability. No monogenic cause has been identified for hypermobile EDS (hEDS), a more common EDS type, which is unlikely to represent a single gene disorder in the majority of affected individuals and at present cannot be diagnosed by genetic investigations. Here we summarize the clinical features and the molecular bases of the monogenic EDS types, highlight diagnostic challenges, and provide guidance for the molecular work-up of affected individuals. In general, genetic tests are indicated if clinical features suggest a monogenic EDS type but are usually unrewarding for other cases of hypermobility.</p>","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"36 4","pages":"235-245"},"PeriodicalIF":1.1,"publicationDate":"2024-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11610442/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142774395","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
Tagungsbericht GfH-Juniorakademie 2024: #GfHJAK24 @schlossbuchenau. “2017年GfH-Juniorakademie”（德语）。
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2024-12-03 eCollection Date: 2024-12-01 DOI: 10.1515/medgen-2024-2056
Simone Ahting, Helene Faust, Andreas Forstner, Maike Karnstedt, Maria Korte, Ilona Krey, Robert Meyer, Daniel Pieh, Anna Schaffeldt, Franziska Schnabel
{"title":"Tagungsbericht GfH-Juniorakademie 2024: #GfHJAK24 @schlossbuchenau.","authors":"Simone Ahting, Helene Faust, Andreas Forstner, Maike Karnstedt, Maria Korte, Ilona Krey, Robert Meyer, Daniel Pieh, Anna Schaffeldt, Franziska Schnabel","doi":"10.1515/medgen-2024-2056","DOIUrl":"https://doi.org/10.1515/medgen-2024-2056","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"36 4","pages":"277-280"},"PeriodicalIF":1.1,"publicationDate":"2024-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11610437/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142774438","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
Monitoring des nicht-invasiven Pränataltests (NIPT). 非侵入性产前检测（NIPT）。
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2024-12-03 eCollection Date: 2024-12-01 DOI: 10.1515/medgen-2024-2052
{"title":"Monitoring des nicht-invasiven Pränataltests (NIPT).","authors":"","doi":"10.1515/medgen-2024-2052","DOIUrl":"10.1515/medgen-2024-2052","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"36 4","pages":"289-290"},"PeriodicalIF":1.1,"publicationDate":"2024-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11610438/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142774399","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
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 1.1 4区 生物学
Medizinische Genetik Pub Date : 2024-12-03 eCollection Date: 2024-12-01 DOI: 10.1515/medgen-2024-2047
{"title":"Ankündigung der GfH-Jahrestagung 2025Grußwort des Tagungspräsidenten: Genetics connects - Genetik verbindet.","authors":"","doi":"10.1515/medgen-2024-2047","DOIUrl":"https://doi.org/10.1515/medgen-2024-2047","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"36 4","pages":"283-285"},"PeriodicalIF":1.1,"publicationDate":"2024-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11610430/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142774231","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
Ein Geburtstagsgruß für Tiemo Grimm zum 80. Geburtstag. “蒂莫·格林80岁生日问候”。.生日
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2024-12-03 eCollection Date: 2024-12-01 DOI: 10.1515/medgen-2024-2044
Klaus Zerres
{"title":"Ein Geburtstagsgruß für Tiemo Grimm zum 80. Geburtstag.","authors":"Klaus Zerres","doi":"10.1515/medgen-2024-2044","DOIUrl":"https://doi.org/10.1515/medgen-2024-2044","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"36 4","pages":"271-273"},"PeriodicalIF":1.1,"publicationDate":"2024-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11610431/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142774424","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
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 1.1 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
{"title":"Nachruf John M. Opitz, geboren in Hamburg am 15.08.1935, verstorben 31. Oktober 2023 in Salt Lake City, Utah, U. S. A.","authors":"Anita Rauch, André Reis","doi":"10.1515/medgen-2024-2055","DOIUrl":"10.1515/medgen-2024-2055","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"36 4","pages":"275-276"},"PeriodicalIF":1.1,"publicationDate":"2024-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11610435/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142774402","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
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 1.1 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
{"title":"Bonn: Prof. Dr. rer. nat. Kerstin U. Ludwig W2-Professur Immungenetik.","authors":"Kerstin U Ludwig","doi":"10.1515/medgen-2024-2054","DOIUrl":"https://doi.org/10.1515/medgen-2024-2054","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"36 4","pages":"267-268"},"PeriodicalIF":1.1,"publicationDate":"2024-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11610436/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142774296","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
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
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