Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Josep F, Nomdedéu"'
Publikováno v:
Haematologica, Vol 109, Iss 6 (2024)
Externí odkaz:
https://doaj.org/article/3f1506a121634f3795ba4e4352292344
Autor:
Guadalupe Oñate, Marta Pratcorona, Ana Garrido, Alicia Artigas-Baleri, Alex Bataller, Mar Tormo, Montserrat Arnan, Susana Vives, Rosa Coll, Olga Salamero, Ferran Vall-Llovera, Antònia Sampol, Antoni Garcia, Marta Cervera, Sara Garcia Avila, Joan Bargay, Xavier Ortín, Josep F. Nomdedéu, Jordi Esteve, Jorge Sierra, Spanish Cooperative Group for the Study and Treatment of Acute Leukemias and Myelodysplasias (CETLAM)
Publikováno v:
Blood Cancer Journal, Vol 13, Iss 1, Pp 1-9 (2023)
Abstract Midostaurin added to intensive chemotherapy is the standard of care for acute myeloid leukemia (AML) with FLT3 mutations (FLT3mut). We analyzed the impact of midostaurin in 227 FLT3mut-AML patients included in the AML-12 prospective trial fo
Externí odkaz:
https://doaj.org/article/44faeaa66ec84739ae0950e1c8e25bf3
Publikováno v:
Clinical Case Reports, Vol 8, Iss 12, Pp 3192-3196 (2020)
ABSTRACT We report a case with a broad spectrum of symptoms, related to GATA2 deficiency syndrome, which emerged as early as at 6 months of age. They ranged from lymphedema, deafness to myelodysplastic syndrome (MDS).
Externí odkaz:
https://doaj.org/article/21821b2628e04a7ea7b7129bdd412c1c
Autor:
Marta Santaliestra, Elena Bussaglia, Marta Pratcorona, Anna Monter‐Rovira, Silvana Saavedra, Anna Mozos, Clara Martínez, Josep F. Nomdedéu
Publikováno v:
Clinical Case Reports, Vol 8, Iss 7, Pp 1269-1273 (2020)
Abstract Only proven pathogenic mutations associated with myeloid neoplasms are key to establish the clonal nature of the bone marrow fibrosis. In cases with genetic variants of uncertain meaning, the clinical picture may be required to rule out seco
Externí odkaz:
https://doaj.org/article/91e5a0288be647f19adc11732e590e24
Autor:
Ana Rio-Machin, Tom Vulliamy, Nele Hug, Amanda Walne, Kiran Tawana, Shirleny Cardoso, Alicia Ellison, Nikolas Pontikos, Jun Wang, Hemanth Tummala, Ahad Fahad H. Al Seraihi, Jenna Alnajar, Findlay Bewicke-Copley, Hannah Armes, Michael Barnett, Adrian Bloor, Csaba Bödör, David Bowen, Pierre Fenaux, Andrew Green, Andrew Hallahan, Henrik Hjorth-Hansen, Upal Hossain, Sally Killick, Sarah Lawson, Mark Layton, Alison M. Male, Judith Marsh, Priyanka Mehta, Rogier Mous, Josep F. Nomdedéu, Carolyn Owen, Jiri Pavlu, Elspeth M. Payne, Rachel E. Protheroe, Claude Preudhomme, Nuria Pujol-Moix, Aline Renneville, Nigel Russell, Anand Saggar, Gabriela Sciuccati, David Taussig, Cynthia L. Toze, Anne Uyttebroeck, Peter Vandenberghe, Brigitte Schlegelberger, Tim Ripperger, Doris Steinemann, John Wu, Joanne Mason, Paula Page, Susanna Akiki, Kim Reay, Jamie D. Cavenagh, Vincent Plagnol, Javier F. Caceres, Jude Fitzgibbon, Inderjeet Dokal
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-12 (2020)
Familial myeloid malignancies have recently been classified as separate disease entities. Here, using whole-exome sequencing of affected pedigrees - the authors highlight genetic variants associated with these conditions.
Externí odkaz:
https://doaj.org/article/a25bb12eaf454851a551304c03cbab09
Autor:
Anna Bosch‐Vilaseca, Anna Monter‐Rovira, Sabina Cisa‐Wieczorek, Guadalupe Oñate, Elena Bussaglia, Maite Carricondo, Ángel Remacha, Clara Martínez, Marta Pratcorona, María Laura Blanco, Josep F. Nomdedéu
Publikováno v:
Clinical Case Reports, Vol 7, Iss 7, Pp 1395-1398 (2019)
Abstract We report a de novo aleukemic form of MCL with a complex monosomic karyotype with LOH for multiple chromosomes and TP53 mutation. Additionally, whereas D816V KIT was not found, the c‐Kit transmembrane domain p.M541L variant was detected wh
Externí odkaz:
https://doaj.org/article/11cb06dd9817495db4d89bd71d9eb7bb
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 7, Pp n/a-n/a (2019)
Abstract Background The human TET2 gene plays a pivotal role in the epigenetic regulation of normal and malignant hematopoiesis. Somatic TET2 mutations have been repeatedly identified in age‐related clonal hematopoiesis and in myeloid neoplasms ran
Externí odkaz:
https://doaj.org/article/737c326281af4a91a0eb6d5b62bd257b
Autor:
Josep F, Nomdedéu, Eulalia, Puigdecanet, Elena, Bussaglia, Juan José, Hernández, Maite, Carricondo, Camino, Estivill, Josep Maria, Martí-Tutusaus, Mar, Tormo, Lurdes, Zamora, Elena, Serrano, Granada, Perea, Maria Paz Queipo, de Llano, Antoni, García, Isabel, Sánchez-Ortega, Josep Maria, Ribera, Lara, Nonell, Anna, Aventin, Francesc, Solé, Maria Salut, Brunet, Jorge, Sierra
Publikováno v:
Hematological oncology. 35(4)
Deoxyribonucleic acid microarrays allow researchers to measure mRNA levels of thousands of genes in a single experiment and could be useful for diagnostic purposes in patients with acute myeloid leukaemia (AML). We assessed the feasibility of the AML
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f1abb4bbad90561233efb57aeb4f909f
https://pubmed.ncbi.nlm.nih.gov/27140599
https://pubmed.ncbi.nlm.nih.gov/27140599
Autor:
Angela, Ferrari, Elena, Bussaglia, Josep, Úbeda, Luca, Facchini, Anna, Aventin, Jorge, Sierra, Josep F, Nomdedéu
Publikováno v:
Hematological oncology. 30(3)
Acute promyelocytic leukaemia (APL) is a unique clinicobiologic entity that can be successfully treated with All-trans Retinoic Acid ATRA-based regimens. Some cases of acute myeloid leukaemia (AML) with nucleophosmin (NPM) mutations have an immunophe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::db7200726506f66ca37d84e03dc5a45d
https://pubmed.ncbi.nlm.nih.gov/21812014
https://pubmed.ncbi.nlm.nih.gov/21812014
Autor:
Angel F, Remacha, Josep F, Nomdedéu, Guiomar, Puget, Camino, Estivill, M Pilar, Sarda, Carme, Canals, Anna, Aventin
Publikováno v:
Haematologica. 91(5)
The JAK2/V617F mutation has been noted in essential thrombocytemia. We investigated 19 cases with refractory anemia with ringed sideroblasts (RARS), including three RARS with thrombocytosis (RARS-T). Only the RARS-T patients showed this mutation. Mor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1fbd2e1b709476b40b7c02d3a6c4154c
https://pubmed.ncbi.nlm.nih.gov/16670082
https://pubmed.ncbi.nlm.nih.gov/16670082