المؤلفون: Boluda-Navarro, Mireia, Ibáñez, Mariam, Liquori, Alessandro, Franco-Jarava, Clara, Martínez Gallo, Mónica, Rodríguez-Vega, Héctor, Teresa, Jaijo, Carreras, Carmen, Such, Esperanza, Zúñiga, Ángel, Colobrán Oriol, Roger, Cervera, José

مصطلحات موضوعية: Chédiak-Higashi syndrome, CHS, Primary immunodeficiency, Hemophagocytic lymphohistiocytosis, LYST, SNP-array, Uniparental disomy, Loss of heterozygosity

وصف الملف: application/pdf

العلاقة: Ministerio de Economía y Competitividad CB16/12/00284; Ministerio de Economía y Competitividad PI16/01113; Instituto de Salud Carlos III PI17/00660; Instituto de Salud Carlos III PI18/01472; Instituto de Salud Carlos III PI19/00812; Frontiers in immunology; Vol. 12 (March 2021), art. 625591; https://ddd.uab.cat/record/255463Test; urn:10.3389/fimmu.2021.625591; urn:oai:ddd.uab.cat:255463; urn:pmcid:PMC8044466; urn:pmc-uid:8044466; urn:pmid:33868243; urn:oai:pubmedcentral.nih.gov:8044466; urn:oai:egreta.uab.cat:publications/9c348c5c-07bd-4315-b31c-b0cc78ce0e7f; urn:scopus_id:85104207235; urn:articleid:16643224v12p625591

الإتاحة: https://ddd.uab.cat/record/255463Test

المؤلفون: Liquori, Alessandro, Lesende, Iván, Palomo Sanchís, Laura, Avetisyan, Gayane, Ibáñez, Mariam, González-Romero, Elisa, Boluda-Navarro, Mireia, Morote-Faubel, Mireya, Garcia-Ruiz, Cristian, Martinez-Valiente, Cristina, Santiago-Balsera, Marta, Gomez-Seguí, Inés, Sanjuan-Pla, Alejandra, Sanz, Miguel A., Sanz, Guillermo, Sole, F., Such, Esperanza, Cervera, José, Universitat Autònoma de Barcelona

مصطلحات موضوعية: Myelodysplastic syndromes, Cytogenetics, Next-generation sequencing, Myeloid neoplasm, SNP array, Karyotype

وصف الملف: application/pdf

العلاقة: Ministerio de Economía y Competitividad PI16/01113; Ministerio de Economía y Competitividad PI16/00665; Instituto de Salud Carlos III PI17/0575; Instituto de Salud Carlos III PI18/1472; Instituto de Salud Carlos III PI19/00812; Ministerio de Educación, Cultura y Deporte GV/2019/084; Agència de Gestió d'Ajuts Universitaris i de Recerca 2017SGR288; Cancers; Vol. 13 (april 2021); https://ddd.uab.cat/record/255507Test; urn:10.3390/cancers13081947; urn:oai:ddd.uab.cat:255507; urn:pmcid:PMC8072643; urn:pmc-uid:8072643; urn:oai:pubmedcentral.nih.gov:8072643; urn:pmid:33919541

الإتاحة: https://ddd.uab.cat/record/255507Test

المؤلفون: Adema, Vera, Palomo, Laura, Toma, Andrea, Kosmider, Olivier, Fuster Tormo, Francisco, Benito, Rocio, Salgado, Rocío, Such, Esperanza, Larráyoz, María José, Xicoy, Blanca, Hernández Sánchez, Jesús M., Maietta, Paolo, Neef, Alexandre, Fontenay, Michaela, Ibáñez, Mariam, Díez Campelo, María, Álvarez de Andrés, Sara, Maciejewski, Jaroslaw, Fenaux, Pierre, Solé, Francesc

المصدر: https://onlinelibrary.wiley.com/doi/epdf/10.1111/bjh.16558Test.

مصطلحات موضوعية: Myelodysplastic syndromes, del(5q), non‐del(5q), Mutations, Lenalidomide, 3205.04 Hematología

العلاقة: http://hdl.handle.net/20.500.12466/3899Test; https://doi.org/10.1111/bjh.16558Test

الإتاحة: https://doi.org/20.500.12466/3899Test
https://doi.org/10.1111/bjh.16558Test
https://hdl.handle.net/20.500.12466/3899Test

المؤلفون: Ibáñez, Mariam, Such, Esperanza, Onecha, Esther, Gómez Seguí, Inés, Liquori, Alessandro, Sellés, Jorge, Hervás Marín, David, Barragán, Eva, Neef, Alexandre, Ayala, Rosa, Llop, Marta, López Pavía, María, Rapado, Inmaculada, Sanjuan Pla, Alejandra, Sargas, Claudia, González Romero, Elisa, Boluda Navarro, Mireia, Andreu, Rafael, Senent, Leonor, Montesinos, Pau, Martínez López, Joaquín, Sanz, Miguel Ángel, Sanz, Guillermo, Cervera, José

مصطلحات موضوعية: Acute myeloid leukemia (AML), Hematology, Cytogenetics, 3205.04 Hematología

العلاقة: Additional information Supplementary information is available for this paper at https://doi.org/10.1038/s41598-020-61589-9Test; Ibáñez, M., Such, E., Onecha, E. et al. Analysis of SNP Array Abnormalities in Patients with DE NOVO Acute Myeloid Leukemia with Normal Karyotype. Sci Rep 10, 5904 (2020). https://doi.org/10.1038/s41598-020-61589-9Test; http://hdl.handle.net/20.500.12466/3900Test; https://doi.org/10.1038/s41598-020-61589-9Test

الإتاحة: https://doi.org/20.500.12466/3900Test
https://doi.org/10.1038/s41598-020-61589-9Test
https://hdl.handle.net/20.500.12466/3900Test

المؤلفون: Palomo Sanchís, Laura, Ibáñez, Mariam, Abáigar, María, Vázquez, Iria, Álvarez, Sara, Cabezón, Marta, Tazón-Vega, Bárbara, Rapado, Inmaculada, Fuster-Tormo, Francisco, Cervera, José, Benito, Rocío, Larrayoz, María J., Cigudosa, Juan C., Zamora, Lurdes, Valcárcel, David, Cedena, María Teresa, Acha, Pamela, Hernández-Sánchez, Jesús M., Fernández-Mercado, Marta, Sanz, Guillermo, Hernández Rivas, Jesús María, Calasanz, M.J, Sole, F., Such, Esperanza

مصطلحات موضوعية: Myelodysplastic syndromes, Chronic myelomonocytic leukaemia, Next generation sequencing, Guidelines, Molecular genetics

وصف الملف: application/pdf

العلاقة: Instituto de Salud Carlos III PI11-02519; Agència de Gestió d'Ajuts Universitaris i de Recerca 2017SGR288; Ministerio de Economía y Competitividad PI16-00159; British Journal of Haematology; Vol. 188 (october 2019), p. 605-622; https://ddd.uab.cat/record/226647Test; urn:10.1111/bjh.16175; urn:oai:ddd.uab.cat:226647; urn:pmid:31621063; urn:pmcid:PMC7064979; urn:pmc-uid:7064979; urn:articleid:13652141v188p605; urn:oai:pubmedcentral.nih.gov:7064979

الإتاحة: https://ddd.uab.cat/record/226647Test

المؤلفون: Palomo, Laura, Ibáñez, Mariam, Abáigar, María, Vázquez, Iria, Álvarez, Sara, Cabezón, Marta, Tazón‐Vega, Bárbara, Rapado, Inmaculada, Fuster‐Tormo, Francisco, Cervera, José, Benito, Rocío, Larrayoz, María J., Cigudosa, Juan C., Zamora, Lurdes, Valcárcel, David, Cedena, María T., Acha, Pamela, Hernández‐Sánchez, Jesús M., Fernández‐Mercado, Marta, Sanz, Guillermo, Hernández‐Rivas, Jesús M., Calasanz, María J., Solé, Francesc, Such, Esperanza

المساهمون: Generalitat de Catalunya, Celgene, Fundación Española de Hematología y Hemoterapia, Instituto de Salud Carlos III, Fundación Científica Asociación Española Contra el Cáncer, Ministerio de Economía y Competitividad

المصدر: British Journal of Haematology ; volume 188, issue 5, page 605-622 ; ISSN 0007-1048 1365-2141

الإتاحة: https://doi.org/10.1111/bjh.16175Test

المؤلفون: Alonso, Carmen M., Llop, Marta, Sargas, Claudia, Pedrola, Laia, Panadero, Joaquín, Hervás, David, Cervera, José, Such, Esperanza, Ibáñez, Mariam, Ayala, Rosa, Martínez-López, Joaquín, Onecha, Esther, de Juan, Inmaculada, Palanca, Sarai, Martínez-Cuadrón, David, Rodríguez-Veiga, Rebeca, Boluda, Blanca, Montesinos, Pau, Sanz, Guillermo, Sanz, Miguel A., Barragán, Eva

المساهمون: FEDER, Instituto de Salud Carlos III, Fundación Española de Hematología y Hemoterapia

المصدر: The Journal of Molecular Diagnostics ; volume 21, issue 2, page 228-240 ; ISSN 1525-1578

مصطلحات موضوعية: Molecular Medicine, Pathology and Forensic Medicine

الإتاحة: https://doi.org/10.1016/j.jmoldx.2018.09.009Test
https://api.elsevier.com/content/article/PII:S1525157817306141?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1525157817306141?httpAccept=text/plainTest

المؤلفون: Ibáñez, Mariam, Carbonell Caballero, José, Such, Esperanza, García Alonso, Luz, Liquori, Alessandro, López Pavía, María, Llop, Marta, Alonso, Carmen, Barragán, Eva, Gómez Seguí, Inés, Neef, Alexandre, Hervás Marín, David, Montesinos, Pau, Sanz, Guillermo, Sanz, Miguel Ángel, Dopazo, Joaquín, Cervera, José

مصطلحات موضوعية: Acute myeloid leukemia (AML), Genetic, Mutation, 2410 Biología Humana, 2414 Microbiología, 3205.04 Hematología

العلاقة: S1 File. Extended experimental procedures. https://doi.org/10.1371/journal.pone.0202926.s001Test; S1 Table. Clinical characteristics of patients analyzed by WES. https://doi.org/10.1371/journal.pone.0202926.s002Test; S2 Table. Mapping results of the discovery cohort from sequencing data. https://doi.org/10.1371/journal.pone.0202926.s003Test; S3 Table. All mutations detected in the study cohort using genome GRCh37/hg19 as a reference. https://doi.org/10.1371/journal.pone.0202926.s004Test; S4 Table. Clinical data of patients from the validation cohort. https://doi.org/10.1371/journal.pone.0202926.s005Test; S5 Table. Mutated genes detected by target-resequencing at the validation cohort. https://doi.org/10.1371/journal.pone.0202926.s006Test; S1 Fig. Partial dependence plots for overall survival from different variables. https://doi.org/10.1371/journal.pone.0202926.s007Test; S2 Fig. Partial dependence plots for event free survival from the different variables. https://doi.org/10.1371/journal.pone.0202926.s008Test; http://hdl.handle.net/20.500.12466/3894Test; https://doi.org/10.1371/journal.pone.0202926Test

الإتاحة: https://doi.org/20.500.12466/3894Test
https://doi.org/10.1371/journal.pone.0202926Test
https://doi.org/10.1371/journal.pone.0202926.s001Test
https://doi.org/10.1371/journal.pone.0202926.s002Test
https://doi.org/10.1371/journal.pone.0202926.s003Test
https://doi.org/10.1371/journal.pone.0202926.s004Test
https://doi.org/10.1371/journal.pone.0202926.s005Test
https://doi.org/10.1371/journal.pone.0202926.s006Test
https://doi.org/10.1371/journal.pone.0202926.s007Test
https://doi.org/10.1371/journal.pone.0202926.s008Test

المؤلفون: Martín, Iván, Such, Esperanza, Navarro, Blanca, Villamón, Eva, Vicente, Ana, Mora, Elvira, Pedrola, Laia, Ibáñez, Mariam, López-Pavía, María, Tormo, Mar, Serrano, Alicia, Sanz, Miguel Ángel, Cervera, José, Sanz, Guillermo

المصدر: Blood Cancer Journal ; volume 7, issue 12 ; ISSN 2044-5385

مصطلحات موضوعية: Oncology, Hematology

الإتاحة: https://doi.org/10.1038/s41408-017-0016-9Test
https://www.nature.com/articles/s41408-017-0016-9.pdfTest
https://www.nature.com/articles/s41408-017-0016-9Test

المؤلفون: Ibáñez, Mariam, Carbonell-Caballero, José, García-Alonso, Luz, Such, Esperanza, Jiménez-Almazán, Jorge, Vidal, Enrique, Barragán, Eva, López-Pavía, María, LLop, Marta, Martín, Iván, Gómez-Seguí, Inés, Montesinos, Pau, Sanz, Miguel A., Dopazo, Joaquín, Cervera, José

المساهمون: Hofmann, Thomas G

المصدر: PLOS ONE ; volume 11, issue 2, page e0148346 ; ISSN 1932-6203

الإتاحة: https://doi.org/10.1371/journal.pone.0148346Test