Pub Date : 2024-09-06eCollection Date: 2024-09-01DOI: 10.1515/medgen-2024-2040
Corinna Friedrich, Frank Tüttelmann
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.
{"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}
Pub Date : 2024-09-06eCollection Date: 2024-09-01DOI: 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}
Pub Date : 2024-09-06eCollection Date: 2024-09-01DOI: 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}
Pub Date : 2024-09-06eCollection Date: 2024-09-01DOI: 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}
Pub Date : 2024-06-06eCollection Date: 2024-06-01DOI: 10.1515/medgen-2024-2023
Ariane Schmetz, Maria Juliana Ballesta-Martínez, Bertrand Isidor, Ana Berta Sousa, Dagmar Wieczorek, Nuria C Bramswig
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.
{"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}
Pub Date : 2024-06-06eCollection Date: 2024-06-01DOI: 10.1515/medgen-2024-2020
Anne Gregor, Christiane Zweier
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.
{"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}
Pub Date : 2024-06-06eCollection Date: 2024-06-01DOI: 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}
扫码关注我们
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号