A phenotypic trait or disease that resembles the trait expressed by a particular genotype, but in an individual who is not a carrier of that genotype. For example, breast cancer in a hereditary breast/ovarian cancer syndrome family member who does not carry the family’s BRCA1 or BRCA2 mutation would be considered a phenocopy. Such an individual does not have the family’s cancer-related mutation and therefore, they do not have the associated cancer risk from that specific mutation. Qeios · Definition, November 29, 2019
{"title":"Phenocopy","authors":"","doi":"10.32388/n88xn4","DOIUrl":"https://doi.org/10.32388/n88xn4","url":null,"abstract":"A phenotypic trait or disease that resembles the trait expressed by a particular genotype, but in an individual who is not a carrier of that genotype. For example, breast cancer in a hereditary breast/ovarian cancer syndrome family member who does not carry the family’s BRCA1 or BRCA2 mutation would be considered a phenocopy. Such an individual does not have the family’s cancer-related mutation and therefore, they do not have the associated cancer risk from that specific mutation. Qeios · Definition, November 29, 2019","PeriodicalId":75916,"journal":{"name":"Humangenetik","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"69637953","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Neues zur Genetik und Klassifikation der Muskeldystrophien","authors":"P. Becker","doi":"10.1007/BF01789595","DOIUrl":"https://doi.org/10.1007/BF01789595","url":null,"abstract":"","PeriodicalId":75916,"journal":{"name":"Humangenetik","volume":"17 1","pages":"1-22"},"PeriodicalIF":0.0,"publicationDate":"2005-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/BF01789595","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"51717254","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Association between C′3 phenotypes and various diseases","authors":"D. Farhud, R. Ananthakrishnan, H. Walter","doi":"10.1007/BF01789600","DOIUrl":"https://doi.org/10.1007/BF01789600","url":null,"abstract":"","PeriodicalId":75916,"journal":{"name":"Humangenetik","volume":"17 1","pages":"57-60"},"PeriodicalIF":0.0,"publicationDate":"2005-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/BF01789600","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"51717293","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Kreatin-Phosphokinase-Aktivität im Serum bei Konduktorinnen der progressiven Muskeldystrophie vom Typ Duchenne","authors":"W. Barthelmai","doi":"10.1007/BF00278777","DOIUrl":"https://doi.org/10.1007/BF00278777","url":null,"abstract":"","PeriodicalId":75916,"journal":{"name":"Humangenetik","volume":"10 1","pages":"366"},"PeriodicalIF":0.0,"publicationDate":"2004-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/BF00278777","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"51183647","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Zur Frage der Verteilung der ABO-Blutgruppen bei an Scharlach erkrankten Kindern","authors":"W. Kircher","doi":"10.1007/BF00280577","DOIUrl":"https://doi.org/10.1007/BF00280577","url":null,"abstract":"","PeriodicalId":75916,"journal":{"name":"Humangenetik","volume":"34 1","pages":"249-252"},"PeriodicalIF":0.0,"publicationDate":"2004-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/BF00280577","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"51187142","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Cat Eye-Syndrom","authors":"J. Kunze, M. Tolksdorf, H. Wiedemann","doi":"10.1007/BF00285379","DOIUrl":"https://doi.org/10.1007/BF00285379","url":null,"abstract":"","PeriodicalId":75916,"journal":{"name":"Humangenetik","volume":"26 1","pages":"271-289"},"PeriodicalIF":0.0,"publicationDate":"2004-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/BF00285379","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"51200166","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Anomalie d'un chromosome du groupe C chez plusieurs membres d'une même famille","authors":"I. Emerit, P. Vernant","doi":"10.1007/BF00286801","DOIUrl":"https://doi.org/10.1007/BF00286801","url":null,"abstract":"","PeriodicalId":75916,"journal":{"name":"Humangenetik","volume":"6 1","pages":"326-334"},"PeriodicalIF":0.0,"publicationDate":"2004-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/BF00286801","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"51205609","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Mutationsvorgänge bei der Entstehung von Hämoglobinvarianten","authors":"F. Vogel, G. Röhrborn","doi":"10.1007/BF00281051","DOIUrl":"https://doi.org/10.1007/BF00281051","url":null,"abstract":"","PeriodicalId":75916,"journal":{"name":"Humangenetik","volume":"1 1","pages":"635-650"},"PeriodicalIF":0.0,"publicationDate":"2004-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/BF00281051","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"51188177","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Weitere Untersuchungen zur Frage der unterschiedlichen Selektionswertigkeit im ABO-Blutgruppensystem","authors":"G. Jörgensen, G. Schwarz","doi":"10.1007/BF00281962","DOIUrl":"https://doi.org/10.1007/BF00281962","url":null,"abstract":"","PeriodicalId":75916,"journal":{"name":"Humangenetik","volume":"5 1","pages":"254-260"},"PeriodicalIF":0.0,"publicationDate":"2004-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/BF00281962","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"51193674","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Untersuchungen zum Polymorphismus der Galaktose-1-Phosphat-Uridyltransferase (EC: 2.7.7.12) mittels Agarosegelelektrophorese","authors":"P. Kühnl, L. Nowicki, W. Spielmann","doi":"10.1007/BF00283590","DOIUrl":"https://doi.org/10.1007/BF00283590","url":null,"abstract":"","PeriodicalId":75916,"journal":{"name":"Humangenetik","volume":"24 1","pages":"227-230"},"PeriodicalIF":0.0,"publicationDate":"2004-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/BF00283590","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"51196809","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
京公网安备 11010802042870号
京ICP备2023020795号-1
扫码关注我们
求助内容：
应助结果提醒方式：