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Alessandro Liquori
Alessandro Liquori
Instituto de Investigación Sanitaria La Fe / CIBERONC
在 iislafe.es 的电子邮件经过验证
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引用次数
引用次数
年份
Acute Promyelocytic Leukemia: A Constellation of Molecular Events around a Single PML-RARA Fusion Gene
A Liquori, M Ibañez, C Sargas, MÁ Sanz, E Barragán, J Cervera
Cancers 12 (3), 624, 2020
1482020
Whole USH2A Gene Sequencing Identifies Several New Deep Intronic Mutations
A Liquori, C Vaché, D Baux, C Blanchet, C Hamel, S Malcolm, M Koenig, ...
Human mutation 37 (2), 184-193, 2016
1042016
A balance between activating and repressive histone modifications regulates cystic fibrosis transmembrane conductance regulator (CFTR) expression in vivo
A Bergougnoux, I Rivals, A Liquori, C Raynal, J Varilh, M Magalhães, ...
Epigenetics 9 (7), 1007-1017, 2014
182014
Analysis of SNP Array Abnormalities in Patients with DE NOVO Acute Myeloid Leukemia with Normal Karyotype
M Ibáñez, E Such, E Onecha, I Gómez-Seguí, A Liquori, J Sellés, ...
Scientific reports 10 (1), 5904, 2020
122020
The modular network structure of the mutational landscape of Acute Myeloid Leukemia
M Ibanez, J Carbonell-Caballero, E Such, L Garcia-Alonso, A Liquori, ...
PLoS One 13 (10), e0202926, 2018
122018
Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45–55 Deletion
J Poyatos‐García, P Martí, A Liquori, N Muelas, I Pitarch, L Martinez‐Dolz, ...
Annals of Neurology 92 (5), 793-806, 2022
112022
A single-run next-generation sequencing (NGS) assay for the simultaneous detection of both gene mutations and large chromosomal abnormalities in patients with myelodysplastic …
A Liquori, I Lesende, L Palomo, G Avetisyan, M Ibáñez, ...
Cancers 13 (8), 1947, 2021
112021
The clinical spectrum, diagnosis, and management of GATA2 deficiency
M Santiago, A Liquori, E Such, Á Zúñiga, J Cervera
Cancers 15 (5), 1590, 2023
102023
A 4.6 Mb Inversion Leading to PCDH15-LINC00844 and BICC1-PCDH15 Fusion Transcripts as a New Pathogenic Mechanism Implicated in Usher Syndrome …
C Vaché, J Puechberty, V Faugère, F Darmaisin, A Liquori, D Baux, ...
Frontiers in Genetics 11, 623, 2020
102020
RNA sequencing analysis for the identification of a PCM1/PDGFRB fusion gene responsive to imatinib
E Such, A Liquori, E Mora, J Marco-Ayala, G Avetisyan, A Regadera, ...
Acta Haematologica 142 (2), 92-97, 2019
92019
Concurrent Zrsr2 mutation and Tet2 loss promote myelodysplastic neoplasm in mice
C Garcia-Ruiz, C Martínez-Valiente, L Cordón, A Liquori, ...
Leukemia 36 (10), 2509-2518, 2022
82022
Next-Generation Sequencing: Quantensprung für Forschung und Diagnostik in der Ophthalmologie
HJ Bolz
Klinische Monatsblätter für Augenheilkunde 234 (03), 280-288, 2017
82017
Functional assays of non-canonical splice-site variants in inherited retinal dystrophies genes
A Rodriguez-Muñoz, A Liquori, B García-Bohorquez, T Jaijo, E Aller, ...
Scientific Reports 12 (1), 68, 2022
62022
Aberrant alternative splicing in U2af1/Tet2 double mutant mice contributes to major hematological phenotypes
C Martínez-Valiente, C Garcia-Ruiz, B Rosón, A Liquori, ...
International journal of molecular sciences 22 (13), 6963, 2021
62021
Case Report: Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in the LYST Gene in a Patient With a Severe Phenotype of Chédiak-Higashi …
M Boluda-Navarro, M Ibáñez, A Liquori, C Franco-Jarava, ...
Frontiers in immunology 12, 625591, 2021
62021
Factor XIII deficiency in two Spanish families with a novel variant in gene F13A1 detected by next-generation sequencing; symptoms and clinical management
A Moret, Á Zúñiga, JM Ayala, A Liquori, AR Cid, S Haya, F Ferrando, ...
Journal of Thrombosis and Thrombolysis 50, 686-688, 2020
62020
Acute Promyelocytic leukemia: A constellation of molecular events around a single PML-RARA fusion gene. Cancers. 2020; 12 (3): 624
A Liquori, M Ibañez, C Sargas, MÁ Sanz, E Barragán, J Cervera
5
Epigenome profiling reveals aberrant DNA methylation signature in GATA2 deficiency
O Marin-Bejar, D Romero-Moya, J Rodriguez-Ubreva, M Distefano, ...
Haematologica 108 (9), 2551, 2023
32023
ERCC6L2 in early-onset adult myelodysplastic syndrome without pre-existing disorder
S Carrillo-Tornel, TH Chen-Liang, A Yeguas Bermejo, H Pomares, ...
Blood 140 (Supplement 1), 4074-4075, 2022
22022
Deletion of exons 45 to 55 in the DMD gene: from the therapeutic perspective to the in vitro model
J Poyatos-García, P Soblechero-Martín, A Liquori, A López-Martínez, ...
Skeletal Muscle 14 (1), 21, 2024
12024
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