Zobrazeno 1 - 10
of 118
pro vyhledávání: '"Minaidou A"'
Autor:
Maria Xenophontos, Anna Minaidou, Coralea Stephanou, Stella Tamana, Marina Kleanthous, Petros Kountouris
Publikováno v:
HemaSphere, Vol 7, Iss 7, p e922 (2023)
Externí odkaz:
https://doaj.org/article/9622015736184bd8893784b123aeb29f
Autor:
Stella Tamana, Maria Xenophontos, Anna Minaidou, Coralea Stephanou, Cornelis L Harteveld, Celeste Bento, Joanne Traeger-Synodinos, Irene Fylaktou, Norafiza Mohd Yasin, Faidatul Syazlin Abdul Hamid, Ezalia Esa, Hashim Halim-Fikri, Bin Alwi Zilfalil, Andrea C Kakouri, ClinGen Hemoglobinopathy Variant Curation Expert Panel, Marina Kleanthous, Petros Kountouris
Publikováno v:
eLife, Vol 11 (2022)
Haemoglobinopathies are the commonest monogenic diseases worldwide and are caused by variants in the globin gene clusters. With over 2400 variants detected to date, their interpretation using the American College of Medical Genetics and Genomics (ACM
Externí odkaz:
https://doaj.org/article/685e2a791891446ba71327c90bbdab61
Autor:
Minaidou, Anna1 (AUTHOR), Tamana, Stella1 (AUTHOR), Stephanou, Coralea1 (AUTHOR), Xenophontos, Maria1 (AUTHOR), Harteveld, Cornelis L.2 (AUTHOR), Bento, Celeste3 (AUTHOR), Kleanthous, Marina1 (AUTHOR), Kountouris, Petros1 (AUTHOR) petrosk@cing.ac.cy
Publikováno v:
International Journal of Molecular Sciences. Dec2022, Vol. 23 Issue 24, p15920. 10p.
Publikováno v:
HemaSphere, Vol 6, Pp 31-31 (2022)
Externí odkaz:
https://doaj.org/article/f4d50227a6a34ce3ae0c173c6b887f91
Publikováno v:
Cell Journal, Vol 20, Iss 3, Pp 340-347 (2018)
Objective Deleterious variants in LRSAM1, a RING finger ubiquitin ligase which is also known as TSG101-associated ligase (TAL), have recently been associated with Charcot-Marie-Tooth disease type 2P (CMT2P). The mechanism by which mutant LRSAM1 cont
Externí odkaz:
https://doaj.org/article/fc0a14a96d77415cb6ecbf01d454b8e2
Akademický článek
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Publikováno v:
PLoS ONE, Vol 14, Iss 2, p e0211814 (2019)
CMT is the most common hereditary neuromuscular disorder of the peripheral nervous system with a prevalence of 1/2500 individuals and it is caused by mutations in more than 80 genes. LRSAM1, a RING finger ubiquitin ligase also known as TSG101-associa
Externí odkaz:
https://doaj.org/article/661ffd88b661499a830016a5b1d16d40
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
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Autor:
Anna Minaidou, Stella Tamana, Coralea Stephanou, Maria Xenophontos, Cornelis L. Harteveld, Celeste Bento, Marina Kleanthous, Petros Kountouris
Publikováno v:
International Journal of Molecular Sciences, 23(24). MDPI
International Journal of Molecular Sciences; Volume 23; Issue 24; Pages: 15920
International Journal of Molecular Sciences; Volume 23; Issue 24; Pages: 15920
Several types of haemoglobinopathies are caused by copy number variants (CNVs). While diagnosis is often based on haematological and biochemical parameters, a definitive diagnosis requires molecular DNA analysis. In some cases, the molecular characte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11561a8be9b12b4609525ea1fd003ea5
https://doi.org/10.3390/ijms232415920
https://doi.org/10.3390/ijms232415920
Publikováno v:
PLoS ONE. 2/6/2019, Vol. 14 Issue 2, p1-11. 11p.