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Medizinische Genetik最新文献

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Epilepsy and genetics. 癫痫与遗传学
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2022-09-22 eCollection Date: 2022-10-01 DOI: 10.1515/medgen-2022-2142
Johannes R Lemke
{"title":"Epilepsy and genetics.","authors":"Johannes R Lemke","doi":"10.1515/medgen-2022-2142","DOIUrl":"10.1515/medgen-2022-2142","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2022-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11006258/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141249049","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
Mitteilungen des Berufsverbandes Deutscher Humangenetiker e.V: Teamwork für eine bessere VersorgungNationale Allianz für seltene genetische Erkrankungen. Mitteilungen des Berufsverbandes Deutscher Humangenetiker e.V.: Teamwork for better careNational Alliance for Rare Genetic Diseases.
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2022-09-22 eCollection Date: 2022-10-01 DOI: 10.1515/medgen-2022-2153
{"title":"Mitteilungen des Berufsverbandes Deutscher Humangenetiker e.V: Teamwork für eine bessere VersorgungNationale Allianz für seltene genetische Erkrankungen.","authors":"","doi":"10.1515/medgen-2022-2153","DOIUrl":"https://doi.org/10.1515/medgen-2022-2153","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2022-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11006310/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141249051","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
Population-based screening in children for early diagnosis and treatment of familial hypercholesterolemia: design of the VRONI study. 为早期诊断和治疗家族性高胆固醇血症而对儿童进行的人群筛查：VRONI 研究的设计。
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2022-05-07 eCollection Date: 2022-04-01 DOI: 10.1515/medgen-2022-2115
Veronika Sanin, Raphael Schmieder, Sara Ates, Lea Dewi Schlieben, Jens Wiehler, Ruoyu Sun, Manuela Decker, Michaela Sander, Stefan Holdenrieder, Florian Kohlmayer, Anna Friedmann, Volker Mall, Therese Feiler, Arne Dreßler, Tim M Strom, Holger Prokisch, Thomas Meitinger, Moritz von Scheidt, Wolfgang Koenig, Georg Leipold, Heribert Schunkert
{"title":"Population-based screening in children for early diagnosis and treatment of familial hypercholesterolemia: design of the VRONI study.","authors":"Veronika Sanin, Raphael Schmieder, Sara Ates, Lea Dewi Schlieben, Jens Wiehler, Ruoyu Sun, Manuela Decker, Michaela Sander, Stefan Holdenrieder, Florian Kohlmayer, Anna Friedmann, Volker Mall, Therese Feiler, Arne Dreßler, Tim M Strom, Holger Prokisch, Thomas Meitinger, Moritz von Scheidt, Wolfgang Koenig, Georg Leipold, Heribert Schunkert","doi":"10.1515/medgen-2022-2115","DOIUrl":"10.1515/medgen-2022-2115","url":null,"abstract":"<p><p>Familial hypercholesterolemia (FH) is the most frequent monogenic disorder (prevalence 1:250) in the general population. Early diagnosis during childhood enables pre-emptive treatment, thus reducing the risk of severe atherosclerotic manifestations later in life. Nonetheless, FH screening programs are scarce. VRONI offers all children aged 5-14 years in Bavaria a FH screening in the context of regular pediatric visits. LDL-cholesterol (LDL-C) is measured centrally, followed by genetic analysis for FH if exceeding the age-specific 95th percentile (130 mg/dl, 3.34 mmol/l). Children with FH pathogenic variants are treated by specialized pediatricians and offered a FH-focused training course by a qualified training center. Reverse cascade screening is recommended for all first-degree relatives. VRONI aims to prove the feasibility of a population-based FH screening in children and to lay the foundation for a nationwide screening program.</p>","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2022-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11006262/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141249045","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
Aktuelle Nachrichten. 最新消息
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2022-05-07 eCollection Date: 2022-04-01 DOI: 10.1515/medgen-2022-2120
{"title":"Aktuelle Nachrichten.","authors":"","doi":"10.1515/medgen-2022-2120","DOIUrl":"https://doi.org/10.1515/medgen-2022-2120","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2022-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11006329/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141249043","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 GfH-Juniorakademie 2021 – Persönliche Begegnungen wieder möglich gemacht. 2021 年的 GfH 初级学院--个人邂逅再次成为可能。
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2022-01-12 eCollection Date: 2021-12-01 DOI: 10.1515/medgen-2021-2104
{"title":"Die GfH-Juniorakademie 2021 – Persönliche Begegnungen wieder möglich gemacht.","authors":"","doi":"10.1515/medgen-2021-2104","DOIUrl":"https://doi.org/10.1515/medgen-2021-2104","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2022-01-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11113003/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141249039","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
News aus den humangenetischen Einrichtungen. 来自人类遗传学中心的新闻。
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2022-01-12 eCollection Date: 2021-12-01 DOI: 10.1515/medgen-2021-2102
{"title":"News aus den humangenetischen Einrichtungen.","authors":"","doi":"10.1515/medgen-2021-2102","DOIUrl":"https://doi.org/10.1515/medgen-2021-2102","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2022-01-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11006264/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141249041","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
Wie wichtig ist die Kenntnis des genetischen Populationshintergrundes in der Medizin? Ein humangenetischer Beitrag vor dem Hintergrund der aktuellen Diskussion um die Verwendung des Begriffs „Rasse“. 遗传人口背景知识在医学中的重要性有多大？在当前关于使用 "种族 "一词的辩论背景下，人类遗传学领域的贡献。
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2022-01-12 eCollection Date: 2021-12-01 DOI: 10.1515/medgen-2021-2106
Markus M Nöthen, Jeanette Erdmann, Brigitte Schlegelberger, Uwe Kornak
{"title":"Wie wichtig ist die Kenntnis des genetischen Populationshintergrundes in der Medizin? Ein humangenetischer Beitrag vor dem Hintergrund der aktuellen Diskussion um die Verwendung des Begriffs „Rasse“.","authors":"Markus M Nöthen, Jeanette Erdmann, Brigitte Schlegelberger, Uwe Kornak","doi":"10.1515/medgen-2021-2106","DOIUrl":"10.1515/medgen-2021-2106","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2022-01-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11006334/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141249042","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
Aktuelle Nachrichten. 最新消息
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2022-01-12 eCollection Date: 2021-12-01 DOI: 10.1515/medgen-2021-2109
{"title":"Aktuelle Nachrichten.","authors":"","doi":"10.1515/medgen-2021-2109","DOIUrl":"https://doi.org/10.1515/medgen-2021-2109","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2022-01-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11110115/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141248969","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
Aktuelle Nachrichten. 最新消息
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2021-12-03 eCollection Date: 2021-09-01 DOI: 10.1515/medgen-2021-2089
{"title":"Aktuelle Nachrichten.","authors":"","doi":"10.1515/medgen-2021-2089","DOIUrl":"https://doi.org/10.1515/medgen-2021-2089","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2021-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11110120/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141249032","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
Aktuelle Nachrichten. 最新消息
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2021-08-14 eCollection Date: 2021-06-01 DOI: 10.1515/medgen-2021-2082
{"title":"Aktuelle Nachrichten.","authors":"","doi":"10.1515/medgen-2021-2082","DOIUrl":"https://doi.org/10.1515/medgen-2021-2082","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2021-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11110117/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141249030","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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