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Medizinische Genetik最新文献

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Adult syndromology: challenges, opportunities and perspectives: Illustrated by the description of four adults with Costello syndrome. 成人综合症：挑战、机遇和前景：通过对四名患有科斯特洛综合征的成人的描述来说明。
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2024-06-06 eCollection Date: 2024-06-01 DOI: 10.1515/medgen-2024-2023
Ariane Schmetz, Maria Juliana Ballesta-Martínez, Bertrand Isidor, Ana Berta Sousa, Dagmar Wieczorek, Nuria C Bramswig
{"title":"Adult syndromology: challenges, opportunities and perspectives: <i>Illustrated by the description of four adults with Costello syndrome</i>.","authors":"Ariane Schmetz, Maria Juliana Ballesta-Martínez, Bertrand Isidor, Ana Berta Sousa, Dagmar Wieczorek, Nuria C Bramswig","doi":"10.1515/medgen-2024-2023","DOIUrl":"10.1515/medgen-2024-2023","url":null,"abstract":"<p><p>Clinical geneticists and syndromologists have traditionally focused on identifying syndromes in children. However, there is a growing acknowledgment of the need to describe adult phenotypes. This article provides an overview of the evolving phenotypes of rare genetic syndromes into adulthood, elucidating its challenges, opportunities, and future perspectives. The clinical phenotypes of four adults with Costello syndrome are described to illustrate these aspects. Phenotypic and genotypic data from four individuals broaden the spectrum of Costello syndrome in adulthood and highlight the high variability in neurocognitive outcome. The clinical data align with previous findings and established genotype-phenotype correlations. Interestingly, two individuals presented with recurrent cancers (bladder cancer and neuroblastoma). Further studies are imperative to provide reliable information for counselling and management to enable comprehensive understanding of the evolving features of rare syndromic diseases and special health issues into adulthood.</p>","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"36 2","pages":"95-102"},"PeriodicalIF":1.1,"publicationDate":"2024-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11154183/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141297252","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
Modelling phenotypes, variants and pathomechanisms of syndromic diseases in different systems. 在不同系统中模拟综合征疾病的表型、变异和病理机制。
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2024-06-06 eCollection Date: 2024-06-01 DOI: 10.1515/medgen-2024-2020
Anne Gregor, Christiane Zweier
{"title":"Modelling phenotypes, variants and pathomechanisms of syndromic diseases in different systems.","authors":"Anne Gregor, Christiane Zweier","doi":"10.1515/medgen-2024-2020","DOIUrl":"10.1515/medgen-2024-2020","url":null,"abstract":"<p><p>In this review we describe different model organisms and systems that are commonly used to study syndromic disorders. Different use cases in modeling diseases, underlying pathomechanisms and specific effects of certain variants are elucidated. We also highlight advantages and limitations of different systems. Models discussed include budding yeast, the nematode worm, the fruit fly, the frog, zebrafish, mice and human cell-based systems.</p>","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"36 2","pages":"121-131"},"PeriodicalIF":1.1,"publicationDate":"2024-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11154186/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141297259","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
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
{"title":"Freiburg: Priv.-Doz. Dr. med. Ulla T. Schultheiss hat sich mit Arbeiten zu den genetischen Grundlagen von Nierenerkrankungen im Fach Experimentelle Medizin habilitiert.","authors":"Ulla T Schultheiss","doi":"10.1515/medgen-2024-2016","DOIUrl":"https://doi.org/10.1515/medgen-2024-2016","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":"36 2","pages":"137-138"},"PeriodicalIF":1.1,"publicationDate":"2024-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11154179/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141297256","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":"https://doi.org/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
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
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
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":"https://doi.org/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
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
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":"https://doi.org/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
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