Results overview: Found 2 records in 0.02 seconds.
Articles, 2 records found
Articles 2 records found  
1.
9 p, 1.4 MB Usefulness of NGS for Diagnosis of Dominant Beta-Thalassemia and Unstable Hemoglobinopathies in Five Clinical Cases / Rizzuto, Valeria (Universitat de Barcelona. Departament de Medicina) ; Koopmann, Tamara T. (Leiden University Medical Center) ; Blanco, Adoración (Hospital Universitari Vall d'Hebron) ; Tazón-Vega, Bárbara (Hospital Universitari Vall d'Hebron) ; Idrizovic, Amira (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Díaz de Heredia, Cristina (Hospital Universitari Vall d'Hebron) ; Del Orbe Barreto, Rafael Andrés (Hospital Universitario de Cruces (Barakaldo, País Basc)) ; Pampliega, Miriam Vara (Hospital Universitario de Cruces (Barakaldo, País Basc)) ; Velasco, Pablo (Hospital Universitari Vall d'Hebron) ; Beneitez Pastor, David (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Santen, Gijs Santen W.E. (Leiden University Medical Center) ; Waisfisz, Quinten (VU Medical Center) ; Elting, Mariet (VU Medical Center) ; Smiers, Frans J.W. (Leiden University Medical Center) ; de Pagter, Anne J. (Leiden University Medical Center) ; Kerkhoffs, Jean Louis H. (AGA City Hospital) ; Harteveld, Cornelis L. (Leiden University Medical Center) ; Mañú Pereira, María del Mar (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras
Unstable hemoglobinopathies (UHs) are rare anemia disorders (RADs) characterized by abnormal hemoglobin (Hb) variants with decreased stability. UHs are therefore easily precipitating, causing hemolysis and, in some cases, leading to dominant beta-thalassemia (dBTHAL). [...]
2021 - 10.3389/fphys.2021.628236
Frontiers in physiology, Vol. 12 (may 2021) , p. 628236  
2.
10 p, 1.2 MB Polymorphisms in MDM2 and TP53 genes and risk of developing therapy-related myeloid neoplasms / Cabezas Somalo, Maria (Universitat Autònoma de Barcelona. Departament de Biologia Animal, de Biologia Vegetal i d'Ecologia) ; García Quevedo, Lydia (Universitat Autònoma de Barcelona. Departament de Biologia Animal, de Biologia Vegetal i d'Ecologia) ; Alonso, Cintia (Universitat Autònoma de Barcelona. Departament de Biologia Animal, de Biologia Vegetal i d'Ecologia) ; Manubens Oliveras, Marta (Universitat Autònoma de Barcelona. Departament de Biologia Animal, de Biologia Vegetal i d'Ecologia) ; Álvarez, Yolanda (Universitat Autònoma de Barcelona. Departament de Biologia Animal, de Biologia Vegetal i d'Ecologia) ; Barquinero, Joan Francesc (Universitat Autònoma de Barcelona. Departament de Biologia Animal, de Biologia Vegetal i d'Ecologia) ; Ramón y Cajal, Santiago (Hospital Universitari Vall d'Hebron) ; Ortega, Margarita (Hospital Universitari Vall d'Hebron) ; Blanco, Adoración (Hospital Universitari Vall d'Hebron) ; Caballín, M. R. (Universitat Autònoma de Barcelona. Departament de Biologia Animal, de Biologia Vegetal i d'Ecologia) ; Armengol Rosell, Gemma (Universitat Autònoma de Barcelona. Departament de Biologia Animal, de Biologia Vegetal i d'Ecologia)
One of the most severe complications after successful cancer therapy is the development of therapy-related myeloid neoplasms (t-MN). Constitutional genetic variation is likely to impact on t-MN risk. [...]
2019 - 10.1038/s41598-018-36931-x
Scientific reports, Vol. 9 (2019) , art. 150  

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