Portal de investigación
Prioritization and functional classification of myeloid malignancies germline variants in a large cohort of pediatric and adult patients with MDS/AML.
Datos básicos
- Código:
- CIGE/2021/015
- Protocolo:
- CIGE/2021/015
- EUDRACT:
- NCT:
- Centro:
- Dotación:
- 20.000,00 €
- Año de incio:
- 2022
- Año de finalización:
- 2023
Documentos
- No hay documentos
Participantes
Grupos
Financiadores - Promotores
Resultados del Ensayo Clínico
A novel mutation in the NNT gene causing familial glucocorticoid deficiency, with a literature review.
Pons Fernandez, Natividad; (...); Cabrera ŸZ
Article. 10.1016/j.ando.2023.05.011. 2023
Caplacizumab Treatment in Elderly Patients with iTTP: Updated Experience from the Spanish TTP Registry
Gomez Segui, Ines; (...); De La Rubia, Javier
Meeting Abstract. 10.1182/blood-2023-180970. 2023
Cis-Acting Splicing-Associated Variants Can Redefine the Molecular Signature of Genes Commonly Mutated in Acute Myeloid Leukemia
Morote-Faubel, Mireya; (...); Cervera, Jose
Meeting Abstract. 10.1182/blood-2023-177571. 2023
Concurrent Zrsr2 mutation and Tet2 loss promote myelodysplastic neoplasm in mice
Garcia-Ruiz C; (...); Sanjuan-Pla A
Article. 10.1038/s41375-022-01674-2. 2022
Correction: Vitamin C and folate status in hereditary fructose intolerance.
Cano A; (...); de Las Heras J
Correction. 10.1038/s41430-023-01334-3. 2023
Cytogenetic Assessment and Risk Stratification in Myelofibrosis with Optical Genome Mapping.
Diaz-Gonzalez, Alvaro; (...); Such, Esperanza
Article. 10.3390/cancers15113039. 2023
Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45-55 Deletion
Poyatos-Garcia, Javier; (...); Jesus Vilchez, Juan
Article. 10.1002/ana.26461. 2022
Early-Onset Myelodysplastic Syndromes (MDS) with Ring Sideroblasts (RS) without SF3B1 Mutations in Adults: Enrichment with Germline Variants in Genes Responsible for Congenital Sideroblastic Anemias
Jauregui, Sandra Novoa; (...); Jerez, Andres
Meeting Abstract. 10.1182/blood-2023-185836. 2023
Effect of autologous umbilical cord blood transfusion in the development of retinopathy of prematurity: randomized clinical trial - study protocol.
Torrejon-Rodriguez L; (...); Aguar Carrascosa M
Article. 10.3389/fped.2023.1269797. 2023
Effect of Caplacizumab in the Recovery of ADAMTS13 Level in Patients with Autoimmune Thrombotic Thrombocytopenic Purpura. Analysis from the Spanish Registry (REPTT)
Eva Mingot, Maria; (...); Del Rio Garma, Julio
Meeting Abstract. 10.1182/blood-2023-182876. 2023
Enhancing Cytogenetic Diagnostics: Incorporating Optical Genome Mapping in the Laboratory Routine
Diaz-Gonzalez, Alvaro; (...); Such, Esperanza
Meeting Abstract. 10.1182/blood-2023-180691. 2023
Epigenome profiling reveals aberrant DNA methylation signature in GATA2 deficiency.
Marin-Bejar, Oskar; (...); Giorgetti, Alessandra
Article. 10.3324/haematol.2022.282305. 2023
ERCC6L2 in Early-Onset Adult Myelodysplastic Syndrome without Pre-Existing Disorder
Carrillo-Tornel, Salvador; (...); Jerez, Andres
Meeting Abstract. 10.1182/blood-2022-168759. 2022
Functional assays of non-canonical splice-site variants in inherited retinal dystrophies genes.
Rodriguez-Munoz, Ana; (...); Garcia-Garcia, Gema
Article. 10.1038/s41598-021-03925-1. 2022
Generation of the First Human In Vitro Model for McArdle Disease Based on iPSC Technology
del Carmen Ortuno-Costela, Maria; (...); Esther Gallardo, Maria
Article. 10.3390/ijms232213964. 2022
Genetic Testing for Rare Diseases
Millan, Jose M., Garcia-Garcia, Gema
Article. 10.3390/diagnostics12040809. 2022
Genome-wide association study identifies susceptibility loci for acute myeloid leukemia (vol 13, 2, 2022)
Lin, Wei-Yu; (...); Allan, James M.
Article. 10.1038/s41467-021-27679-6. 2022
GERMLINE PREDISPOSITION TO MYELOID MALIGNANCIES IN A CONSECUTIVE COHORT OF 183 PATIENTS
Santiago, M.; (...); Cervera-Zamora, J.
Meeting Abstract. 10.1016/j.leukres.2023.107247. 2023
IMPACT OF POSTTRANSPLANT CYCLOPHOSPHAMIDE ON TRANSFUSION REQUIREMENTS IN HLA MATCHED SIBLING PERIPHERAL BLOOD STEM CELL TRANSPLANTATION.
Marco-Ayala, Javier; (...); Solves, Pilar
Article. 10.1016/j.jtct.2023.01.009. 2023
Panel Sequencing for Clinically Oriented Variant Screening and Copy Number Detection in Chronic Lymphocytic Leukemia Patients
Ibanez, Mariam; (...); Luna I
Article. 10.3390/diagnostics12040953. 2022
PCR-Based Strategy for Introducing CRISPR/Cas9 Machinery into Hematopoietic Cell Lines.
González-Romero E; (...); Vázquez-Manrique RP
Article. 10.3390/cancers15174263. 2023
Real-world effectiveness of caplacizumab vs standard of care in immune thrombotic thrombocytopenic purpura.
Pascual Izquierdo, Maria Cristina; (...); Del Rio-Garma, Julio
Article. 10.1182/bloodadvances.2022008028. 2022
Real-World Experience in Extracorporeal photopheresisfor adults with graft-versus-host disease.
Asensi Cantó P; (...); Gómez-Seguí I
Article. 10.1016/j.jtct.2023.09.001. 2023
Reduced incidence of neurologic complications after allogeneic hematopoietic stem cell transplantation with calcineurin-free graft-versus-host disease prophylaxis.
Balaguer-Rosello, Aitana; (...); Sanz, Jaime
Article. 10.1016/j.jtct.2023.07.008. 2023
TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa.
Bocquet, Beatrice; (...); Kalatzis, Vasiliki
Article. 10.1172/jci.insight.169426. 2023
T-cell Depleted Peripheral Blood versus Unmanipulated Bone Marrow in Matched Sibling Transplantation for Aplastic Anemia.
Chorao, Pedro; (...); Sanz, Jaime
Article. 10.1016/j.jtct.2023.01.016. 2023
The Clinical Spectrum, Diagnosis, and Management of GATA2 Deficiency.
Santiago, Marta; (...); Cervera, Jose
Article. 10.3390/cancers15051590. 2023