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Medizinische Genetik最新文献

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Deep phenotyping using foetal MRI. 利用胎儿MRI进行深度表型分析。
IF 1.4 4区 生物学
Medizinische Genetik Pub Date : 2026-04-16 eCollection Date: 2026-04-01 DOI: 10.1515/medgen-2026-2005
Gregor Kasprian, Christian Mitter, Philipp Moser
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引用次数: 0
Prenatal diagnosis – where do we go from here? 产前诊断，我们该怎么做？
IF 1.4 4区 生物学
Medizinische Genetik Pub Date : 2026-04-16 eCollection Date: 2026-04-01 DOI: 10.1515/medgen-2026-2010
Christine Fauth, Sarah Verheyen
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引用次数: 0
Discordant fetal anomalies in monochorionic multiple pregnancies. 单绒毛膜多胎妊娠的不一致胎儿异常。
IF 1.4 4区 生物学
Medizinische Genetik Pub Date : 2026-04-16 eCollection Date: 2026-04-01 DOI: 10.1515/medgen-2026-2011
Heidrun Schuligoi, Herbert Juch, Philipp Klaritsch
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引用次数: 0
Prenatal genetic testing and potential consequences. 产前基因检测及其潜在后果。
IF 1.4 4区 生物学
Medizinische Genetik Pub Date : 2026-04-16 eCollection Date: 2026-04-01 DOI: 10.1515/medgen-2026-2008
Sarah F Jauch, Philipp Klaritsch
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引用次数: 0
Fetal pathology meets clinical genetics – on the value of a comprehensive postmortem examination. 胎儿病理学符合临床遗传学-关于一个全面的尸检检查的价值。
IF 1.4 4区 生物学
Medizinische Genetik Pub Date : 2026-04-16 eCollection Date: 2026-04-01 DOI: 10.1515/medgen-2026-2006
Christine Fauth, Susanne Sprung, Martina Messner BSc, Renate Lunzer BSc, Irene Mutz-Dehbalaie, Patricia Döttelmayer, Karin Freund-Unsinn
{"title":"Fetal pathology meets clinical genetics – on the value of a comprehensive postmortem examination.","authors":"Christine Fauth, Susanne Sprung, Martina Messner BSc, Renate Lunzer BSc, Irene Mutz-Dehbalaie, Patricia Döttelmayer, Karin Freund-Unsinn","doi":"10.1515/medgen-2026-2006","DOIUrl":"https://doi.org/10.1515/medgen-2026-2006","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"38 2","pages":"119-130"},"PeriodicalIF":1.4,"publicationDate":"2026-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13099246/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147788424","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
Placental mosaicism in prenatal diagnosis. 胎盘镶嵌现象在产前诊断中的应用。
IF 1.4 4区 生物学
Medizinische Genetik Pub Date : 2026-04-16 eCollection Date: 2026-04-01 DOI: 10.1515/medgen-2026-2007
Patricia Döttelmayer, Christine Fauth
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引用次数: 0
Indication and diagnostic method selection for invasive prenatal genetic testing – review of the literature and conclusions of the Austrian consensus conference on prenatal genetic testing. 侵入性产前基因检测的指征和诊断方法选择——奥地利产前基因检测共识会议的文献和结论综述。
IF 1.4 4区 生物学
Medizinische Genetik Pub Date : 2026-04-16 eCollection Date: 2026-04-01 DOI: 10.1515/medgen-2026-2012
Sarah Verheyen, Barbara Pertl, Sophie Bierbaumer, Claudius Fazelnia, Sarah Francesca Jauch, Philipp Klaritsch, Elisabeth Krampl-Bettelheim, Stefan Kühberger, Theresa Reischer, Ricarda Reiter, Iris Scharnreitner, Horst Steiner, Johannes Zschocke, Mateja Pfeifer
{"title":"Indication and diagnostic method selection for invasive prenatal genetic testing – review of the literature and conclusions of the Austrian consensus conference on prenatal genetic testing.","authors":"Sarah Verheyen, Barbara Pertl, Sophie Bierbaumer, Claudius Fazelnia, Sarah Francesca Jauch, Philipp Klaritsch, Elisabeth Krampl-Bettelheim, Stefan Kühberger, Theresa Reischer, Ricarda Reiter, Iris Scharnreitner, Horst Steiner, Johannes Zschocke, Mateja Pfeifer","doi":"10.1515/medgen-2026-2012","DOIUrl":"https://doi.org/10.1515/medgen-2026-2012","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"38 2","pages":"99-110"},"PeriodicalIF":1.4,"publicationDate":"2026-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13099243/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147788420","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
Diagnosebezogene Medizin bei genetischen Erkrankungen: FindMe2care – Die Kontaktplattform für Betroffene mit seltenen genetischen Erkrankungen wurde bereits von fast 1000 PatientInnen genutzt. 遗传疾病诊断医学：FindMe2care——近1000名患者已经使用了罕见遗传疾病患者的联系平台。
IF 1.4 4区 生物学
Medizinische Genetik Pub Date : 2026-04-16 eCollection Date: 2026-04-01 DOI: 10.1515/medgen-2026-2009
{"title":"Diagnosebezogene Medizin bei genetischen Erkrankungen: FindMe2care – Die Kontaktplattform für Betroffene mit seltenen genetischen Erkrankungen wurde bereits von fast 1000 PatientInnen genutzt.","authors":"","doi":"10.1515/medgen-2026-2009","DOIUrl":"https://doi.org/10.1515/medgen-2026-2009","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"38 2","pages":"151"},"PeriodicalIF":1.4,"publicationDate":"2026-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13099240/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147788426","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 Syndromtag 2026 Grußwort der Tagungsleitung: 25.-26. September 2026, Bonn. 检索日期：2017-05-26。2026年9月，波恩。
IF 1.4 4区 生物学
Medizinische Genetik Pub Date : 2026-02-18 eCollection Date: 2026-02-01 DOI: 10.1515/medgen-2025-2050
{"title":"Ankündigung Syndromtag 2026 Grußwort der Tagungsleitung: 25.-26. September 2026, Bonn.","authors":"","doi":"10.1515/medgen-2025-2050","DOIUrl":"https://doi.org/10.1515/medgen-2025-2050","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"38 1","pages":"59"},"PeriodicalIF":1.4,"publicationDate":"2026-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12910337/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146222067","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 testing in chronic kidney disease of uneXplained cause (CKDx): clinical insights and evolving diagnostic paradigms. 不明原因慢性肾脏病（CKDx）的基因检测：临床见解和不断发展的诊断范式。
IF 1.4 4区 生物学
Medizinische Genetik Pub Date : 2026-02-18 eCollection Date: 2026-02-01 DOI: 10.1515/medgen-2025-2046
Jan Halbritter, Matias Simons
{"title":"Genetic testing in chronic kidney disease of uneXplained cause (CKDx): clinical insights and evolving diagnostic paradigms.","authors":"Jan Halbritter, Matias Simons","doi":"10.1515/medgen-2025-2046","DOIUrl":"https://doi.org/10.1515/medgen-2025-2046","url":null,"abstract":"<p><p>Chronic kidney disease (CKD) represents a significant global health burden, with diverse etiologies and often complex clinical presentations. Among these, a notable subset of CKD patients present without a clear underlying cause despite extensive diagnostic evaluation. For this subgroup, the term CKDx - chronic kidney disease of unexplained cause, has recently been proposed. A major element of the diagnostic workup of CKDx is genetic testing, for which the methodology has greatly improved in the last years.</p>","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"38 1","pages":"21-28"},"PeriodicalIF":1.4,"publicationDate":"2026-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12910343/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146222019","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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