Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Tamara Wurst"'
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
IntroductionPseudoxanthoma elasticum (PXE) is an autosomal recessive ectopic calcification disorder clinically affecting the skin, eyes, and vascular system. Most cases of PXE are caused by inactivating pathogenic variants in the ABCC6 gene encoding
Externí odkaz:
https://doaj.org/article/1c7cd63b56ed4d839a2c08508a7a5642
Autor:
Douglas Ralph, Yvonne Nitschke, Michael A Levine, Matthew Caffet, Tamara Wurst, Amir Hossein Saeidian, Leila Youssefian, Hassan Vahidnezhad, Sharon F Terry, Frank Rutsch, Jouni Uitto, Qiaoli Li
Publikováno v:
PLoS Genetics, Vol 18, Iss 4, p e1010192 (2022)
Pseudoxanthoma elasticum (PXE) and generalized arterial calcification of infancy (GACI) are clinically distinct genetic entities of ectopic calcification associated with differentially reduced circulating levels of inorganic pyrophosphate (PPi), a po
Externí odkaz:
https://doaj.org/article/33be5d418ebc4c14bc28e34b680fc2b8
Autor:
Jouni Uitto, Jonathan G. Schoenecker, J. Huang, Qiaoli Li, Tamara Wurst, Andrew Touati, Ellen Ryu, Sharon F. Terry, Paolo Fortina, Hassan Vahidnezhad, Leila Youssefian, Amir Hossein Saeidian, Matthew Caffet, Jagmohan Singh, Luke Kowal, Adam E. Snook
Publikováno v:
Genet Med
PURPOSE: Heritable ectopic mineralization disorders comprise a group of conditions with a broad range of clinical manifestations in non-skeletal connective tissues. We report the genetic findings from a large international cohort of 478 patients affl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8b6df693aa78094a59cc91dd119f0b4
https://pubmed.ncbi.nlm.nih.gov/34906475
https://pubmed.ncbi.nlm.nih.gov/34906475
Autor:
Tamara Wurst
Publikováno v:
Genetic testing and molecular biomarkers. 22(4)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9086910dce2a13355d382648343b5506
https://pubmed.ncbi.nlm.nih.gov/29676950
https://pubmed.ncbi.nlm.nih.gov/29676950
Autor:
Tamara Wurst, Sharon F. Terry
Publikováno v:
Genetic testing and molecular biomarkers. 22(3)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9ae2552365ead2db0522c93f9adccbe
https://pubmed.ncbi.nlm.nih.gov/29565740
https://pubmed.ncbi.nlm.nih.gov/29565740
Autor:
Tamara Wurst, Sharon F. Terry
Publikováno v:
Genetic Testing and Molecular Biomarkers. 23:297-298
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e669a1e336b78dc572a996778ee8ee9
https://doi.org/10.1089/gtmb.2019.29046.sjt
https://doi.org/10.1089/gtmb.2019.29046.sjt