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Genetics of female and male infertility. 女性和男性不孕症的遗传学。
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2024-09-06 eCollection Date: 2024-09-01 DOI: 10.1515/medgen-2024-2040
Corinna Friedrich, Frank Tüttelmann
{"title":"Genetics of female and male infertility.","authors":"Corinna Friedrich, Frank Tüttelmann","doi":"10.1515/medgen-2024-2040","DOIUrl":"https://doi.org/10.1515/medgen-2024-2040","url":null,"abstract":"<p><p>Infertility is defined as the inability to conceive within one year of unprotected intercourse, and the causes are equally distributed between both sexes. Genetics play a crucial role in couple infertility and respective diagnostic testing should follow available guidelines. Appropriate tiered genetic analyses require comprehensive physical examination of both partners in an infertile couple. A wide range of chromosomal and monogenic variants can be the underlying genetic cause of infertility in both women and men. Accurate clinical phenotyping, together with identification of the genetic origin, helps to recommend the proper treatment and to counsel couples on the success rates and potential risks for offspring.</p>","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11380935/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142300315","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 der GfH-Ehrenmitgliedschaft 2024 an Prof. Dr. med. Klaus Zerres. 授予 Klaus Zerres 博士教授 2024 年 GfH 荣誉会员资格。
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2024-09-06 eCollection Date: 2024-09-01 DOI: 10.1515/medgen-2024-2034
Sabine Rudnik-Schöneborn
{"title":"Verleihung der GfH-Ehrenmitgliedschaft 2024 an Prof. Dr. med. Klaus Zerres.","authors":"Sabine Rudnik-Schöneborn","doi":"10.1515/medgen-2024-2034","DOIUrl":"https://doi.org/10.1515/medgen-2024-2034","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11382346/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142300326","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
Institut für Humangenetik der Medizinischen Universität Innsbruck feiert seine 60-jährige Geschichte und gibt Ausblicke in die Zukunft der Genomischen Medizin. 因斯布鲁克医科大学人类遗传学研究所庆祝其成立 60 周年，并展望基因组医学的未来。
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2024-09-06 eCollection Date: 2024-09-01 DOI: 10.1515/medgen-2024-2038
Beatrix Mühlegger, Johannes Zschocke
{"title":"Institut für Humangenetik der Medizinischen Universität Innsbruck feiert seine 60-jährige Geschichte und gibt Ausblicke in die Zukunft der Genomischen Medizin.","authors":"Beatrix Mühlegger, Johannes Zschocke","doi":"10.1515/medgen-2024-2038","DOIUrl":"https://doi.org/10.1515/medgen-2024-2038","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11381109/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142300318","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 der GfH-Ehrenmedaille 2024 an Dr. rer. nat. Holger Prokisch. 向 Holger Prokisch 博士颁发 2024 年 GfH 荣誉奖章。
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2024-09-06 eCollection Date: 2024-09-01 DOI: 10.1515/medgen-2024-2035
André Reis
{"title":"Verleihung der GfH-Ehrenmedaille 2024 an Dr. rer. nat. Holger Prokisch.","authors":"André Reis","doi":"10.1515/medgen-2024-2035","DOIUrl":"https://doi.org/10.1515/medgen-2024-2035","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11380934/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142300325","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
Heidelberg: PD Dr. rer. nat. Sandra Hoffmann - Leiterin der Forschungsgruppe Kardiogenetik. Heidelberg: PD Dr rer. nat. Sandra Hoffmann - Head of the Cardiogenetics Research Group.
IF 1.1 4区 生物学
Medizinische Genetik Pub Date : 2024-09-06 eCollection Date: 2024-09-01 DOI: 10.1515/medgen-2024-2041
Sandra Hoffmann
{"title":"Heidelberg: PD Dr. rer. nat. Sandra Hoffmann - Leiterin der Forschungsgruppe Kardiogenetik.","authors":"Sandra Hoffmann","doi":"10.1515/medgen-2024-2041","DOIUrl":"https://doi.org/10.1515/medgen-2024-2041","url":null,"abstract":"","PeriodicalId":51130,"journal":{"name":"Medizinische Genetik","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11380984/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142300317","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
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":null,"pages":null},"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":null,"pages":null},"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":null,"pages":null},"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":null,"pages":null},"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":null,"pages":null},"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
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