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Freiburg: Priv.-Doz. Dr. med. Ulla T. Schultheiss hat sich mit Arbeiten zu den genetischen Grundlagen von Nierenerkrankungen im Fach Experimentelle Medizin habilitiert. Freiburg: Priv.-Doz.Ulla T. Schultheiss 博士完成了实验医学的实习，研究肾脏疾病的遗传基础。
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2024-06-06 eCollection Date: 2024-06-01 DOI: 10.1515/medgen-2024-2016
Ulla T Schultheiss
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引用次数: 0
Tagungsbericht Genomics of Rare Disease 2024 Conference. Tagungsbericht 2024 年罕见病基因组学大会。
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2024-06-06 eCollection Date: 2024-06-01 DOI: 10.1515/medgen-2024-2021
Vicente Andres Yépez Mora
{"title":"Tagungsbericht Genomics of Rare Disease 2024 Conference.","authors":"Vicente Andres Yépez Mora","doi":"10.1515/medgen-2024-2021","DOIUrl":"10.1515/medgen-2024-2021","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"36 2","pages":"145-147"},"PeriodicalIF":1.1,"publicationDate":"2024-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11154174/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141297262","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
Modellvorhaben. 示范项目。
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2024-06-06 eCollection Date: 2024-06-01 DOI: 10.1515/medgen-2024-2025
{"title":"Modellvorhaben.","authors":"","doi":"10.1515/medgen-2024-2025","DOIUrl":"10.1515/medgen-2024-2025","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"36 2","pages":"155"},"PeriodicalIF":1.1,"publicationDate":"2024-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11154182/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141297260","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
Syndromology at the interface of evolving phenotypes, epimutations, and model systems. 表型演变、外显子和模型系统界面上的综合症。
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2024-06-06 eCollection Date: 2024-06-01 DOI: 10.1515/medgen-2024-2024
Nuria C Bramswig, Dagmar Wieczorek
{"title":"Syndromology at the interface of evolving phenotypes, epimutations, and model systems.","authors":"Nuria C Bramswig, Dagmar Wieczorek","doi":"10.1515/medgen-2024-2024","DOIUrl":"https://doi.org/10.1515/medgen-2024-2024","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"36 2","pages":"93-94"},"PeriodicalIF":1.1,"publicationDate":"2024-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11154180/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141297261","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
Herbsttagung 2024. 2024 年秋季会议。
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2024-06-06 eCollection Date: 2024-06-01 DOI: 10.1515/medgen-2024-2019
{"title":"Herbsttagung 2024.","authors":"","doi":"10.1515/medgen-2024-2019","DOIUrl":"https://doi.org/10.1515/medgen-2024-2019","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"36 2","pages":"157"},"PeriodicalIF":1.1,"publicationDate":"2024-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11154184/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141297257","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
Verleihung des österreichischen Ehrenkreuzes für Wissenschaft und Kunst erster Klasse für ihre wissenschaftlichen Verdienste um die Tumorzytogenetik und Tumorgenetik an Frau Prof. Dr. Christa Fonatsch. Christa Fonatsch 博士教授因其在肿瘤细胞遗传学和肿瘤遗传学方面的科学贡献，被授予奥地利科学与艺术一等荣誉十字勋章。
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2024-06-06 eCollection Date: 2024-06-01 DOI: 10.1515/medgen-2024-2018
Helga Rehder
{"title":"Verleihung des österreichischen Ehrenkreuzes für Wissenschaft und Kunst erster Klasse für ihre wissenschaftlichen Verdienste um die Tumorzytogenetik und Tumorgenetik an Frau Prof. Dr. Christa Fonatsch.","authors":"Helga Rehder","doi":"10.1515/medgen-2024-2018","DOIUrl":"10.1515/medgen-2024-2018","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"36 2","pages":"139-140"},"PeriodicalIF":1.1,"publicationDate":"2024-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11154176/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141297265","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
Ausschreibung Frank-Majewski-Preis 2024. 2024 年弗兰克-马耶夫斯基奖（Frank Majewski Prize 2024）征集作品。
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2024-06-06 eCollection Date: 2024-06-01 DOI: 10.1515/medgen-2024-2022
{"title":"Ausschreibung Frank-Majewski-Preis 2024.","authors":"","doi":"10.1515/medgen-2024-2022","DOIUrl":"https://doi.org/10.1515/medgen-2024-2022","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"36 2","pages":"153"},"PeriodicalIF":1.1,"publicationDate":"2024-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11154175/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141297254","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
Zürich: Prof. Dr. med. Ruxandra Bachmann-Gagescu zur ausserordentlichen Professorin für Entwicklungsgenetik ernannt. 苏黎世：med Ruxandra Bachmann-Gagescu 教授被任命为发育遗传学副教授。
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2024-06-06 eCollection Date: 2024-06-01 DOI: 10.1515/medgen-2024-2015
{"title":"Zürich: Prof. Dr. med. Ruxandra Bachmann-Gagescu zur ausserordentlichen Professorin für Entwicklungsgenetik ernannt.","authors":"","doi":"10.1515/medgen-2024-2015","DOIUrl":"10.1515/medgen-2024-2015","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"36 2","pages":"133"},"PeriodicalIF":1.1,"publicationDate":"2024-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11154177/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141297266","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 6. GfH-Juniorakademie 2024. 宣布 2024 年第六届 GfH 初级学院开学。
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2024-06-06 eCollection Date: 2024-06-01 DOI: 10.1515/medgen-2024-2027
{"title":"Ankündigung der 6. GfH-Juniorakademie 2024.","authors":"","doi":"10.1515/medgen-2024-2027","DOIUrl":"https://doi.org/10.1515/medgen-2024-2027","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"36 2","pages":"149"},"PeriodicalIF":1.1,"publicationDate":"2024-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11154178/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141297253","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
The role of epigenetics in rare diseases. 表观遗传学在罕见病中的作用。
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2024-06-06 eCollection Date: 2024-06-01 DOI: 10.1515/medgen-2024-2014
Bernhard Horsthemke
{"title":"The role of epigenetics in rare diseases.","authors":"Bernhard Horsthemke","doi":"10.1515/medgen-2024-2014","DOIUrl":"10.1515/medgen-2024-2014","url":null,"abstract":"<p><p>Epigenetic control systems are based on chromatin modifications (DNA methylation, histone modifications and nucleosome positioning), which affect the local kinetics of gene expression. They play an important role in maintaining cell fate decisions, X inactivation and genomic imprinting. Aberrant chromatin states that are associated with a deleterious change in gene expression are called epimutations. An epimutation can be a primary epimutation that has occurred in the absence of any genetic change or a secondary epimutation that results from a mutation of a <i>cis</i>-acting regulatory element or <i>trans</i>-acting factor. Epimutations may play a causative role in disease, for example in imprinting disorders, or may be part of the pathogenetic mechanism as in the fragile X syndrome and in syndromes caused by a mutation affecting a chromatin modifier. For several diseases, DNA methylation testing is an important tool in the diagnostic work-up of patients.</p>","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"36 2","pages":"111-120"},"PeriodicalIF":1.1,"publicationDate":"2024-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11154187/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141297264","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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