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Medizinische Genetik最新文献

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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":"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
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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":"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":"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
Genetics of CAKUT. CAKUT基因。
IF 1.4 4区 生物学
Medizinische Genetik Pub Date : 2026-02-18 eCollection Date: 2026-02-01 DOI: 10.1515/medgen-2025-2053
Alina C Hilger, Rik Westland, Julia Hoefele
{"title":"Genetics of CAKUT.","authors":"Alina C Hilger, Rik Westland, Julia Hoefele","doi":"10.1515/medgen-2025-2053","DOIUrl":"10.1515/medgen-2025-2053","url":null,"abstract":"<p><p>Congenital anomalies of the kidney and urinary tract (CAKUT) represent a heterogeneous group of developmental disorders and are the leading cause of pediatric chronic kidney disease worldwide. The phenotypic spectrum is broad, encompassing kidney agenesis, hypodysplasia, multicystic dysplastic kidneys, vesicoureteral reflux, obstructive uropathies, and other malformations affecting the kidneys, ureters, and urethra. Advances in genetics have begun to unravel the molecular pathways underlying these diverse phenotypes, yet the complexity of CAKUT reflects contributions from both monogenic variants and multifactorial causes. This review provides an overview of the current understanding of the genetic causes of CAKUT, beginning with fundamental principles of kidney and urinary tract development, and then focusing on major discoveries in the past ten years. We aim to summarize key genetic findings, with an emphasis on genotype-phenotype correlations and developmental pathways, highlight emerging mechanisms, and discuss their implications for diagnosis, counseling, and clinical management.</p>","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"38 1","pages":"3-10"},"PeriodicalIF":1.4,"publicationDate":"2026-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12910339/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146222012","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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