Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Maria Xenophontos"'
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
Publikováno v:
eLife. 11
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://explore.openaire.eu/search/publication?articleId=doi_________::65bd6c073226670ff51bc6138251eba7
https://doi.org/10.7554/elife.79713
https://doi.org/10.7554/elife.79713
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
Autor:
Stella Tamana, Androulla Eleftheriou, Maria Xenophontos, Helen M. Robinson, Petros Kountouris, Michael Angastiniotis, Marina Kleanthous, Anna Minaidou, Bin Alwi Zilfalil, Coralea Stephanou, Jacques Elion, Raj Ramesar, Carsten W. Lederer
Publikováno v:
Hemoglobin. 43:327-327
Hemoglobinopathies are the most common monogenic diseases, with millions of carriers and patients worldwide. Online resources for hemoglobinopathies are largely divided into specialized sites cater...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::123c4ea2fe00cf3d252429ed85e5a5a0
https://doi.org/10.1080/03630269.2020.1719591
https://doi.org/10.1080/03630269.2020.1719591