José Luis Vizmanos Pérez-rekin lankidetzan egindako argitalpenak (30)

2023

  1. Transcriptomic Analysis Reveals JAK2/MPL-Independent Effects of Calreticulin Mutations in a C. elegans Model

    Cells, Vol. 12, Núm. 1

2019

  1. The nature of traits, genes and variation

    Principles of Nutrigenetics and Nutrigenomics: Fundamentals of Individualized Nutrition (Elsevier), pp. 3-9

2017

  1. p.Y317H is a new JAK2 gain-of-function mutation affecting the FERM domain in a myelofibrosis patient with CALR mutation

    Haematologica

2014

  1. A simple approach for classifying new mutations as somatic or germinal in DNA samples lacking paired tissue

    BioTechniques, Vol. 56, Núm. 6, pp. 327-329

  2. Bioinformatic analyses of CALR mutations in myeloproliferative neoplasms support a role in signaling

    Leukemia

2013

  1. CBL RING finger deletions are common in core-binding factor acute myeloid leukemias

    Leukemia and Lymphoma

  2. Oncofuse: A computational framework for the prediction of the oncogenic potential of gene fusions

    Bioinformatics, Vol. 29, Núm. 20, pp. 2539-2546

2012

  1. A meta-analysis of TET2 mutations shows a distinct distribution pattern in de novo acute myeloid leukemia and chronic myelomonocytic leukemia

    Leukemia and Lymphoma

  2. CBL mutations in myeloproliferative neoplasms are also found in the gene's proline-rich domain and in patients with the V617FJAK2

    Haematologica, Vol. 97, Núm. 8, pp. 1234-1241

  3. Genomic Hallmarks of Genes Involved in Chromosomal Translocations in Hematological Cancer

    PLoS Computational Biology, Vol. 8, Núm. 12

2011

  1. LIF, a novel STAT5-regulated gene, is aberrantly expressed in myeloproliferative neoplasms

    Genes and Cancer, Vol. 2, Núm. 5, pp. 593-596

  2. LNK can also be mutated outside PH and SH2 domains in myeloproliferative neoplasms with and without V617FJAK2 mutation

    Leukemia Research, Vol. 35, Núm. 11, pp. 1537-1539

2010

  1. A new potential oncogenic mutation in the FERM domain of JAK2 in BCR/ABL1-negative and V617F-negative chronic myeloproliferative neoplasms revealed by a comprehensive screening of 17 tyrosine kinase coding genes

    Cancer Genetics and Cytogenetics, Vol. 199, Núm. 1, pp. 1-8

  2. Quantification of PDGFRA alternative transcripts improves the screening for XPDGFRA fusions by reverse transcriptase-polymerase chain reaction

    Leukemia and Lymphoma, Vol. 51, Núm. 9, pp. 1720-1726

2009

  1. Signatures of selection in fusion transcripts resulting from chromosomal translocations in human cancer

    PLoS ONE, Vol. 4, Núm. 3

2008

  1. Low frequency of JAK2 exon 12 mutations in classic and atypical CMPDs

    Leukemia Research

  2. Methylation status of SOCS1 and SOCS3 in BCR-ABL negative and JAK2V617F negative chronic myeloproliferative neoplasms

    Leukemia Research

2007

  1. TICdb: A collection of gene-mapped translocation breakpoints in cancer

    BMC Genomics, Vol. 8

2006

  1. Chromosome translocations in cancer: computational evidence for the random generation of double-strand breaks

    Trends in Genetics

2004

  1. NIN, a Gene Encoding a CEP110-Like Centrosomal Protein, Is Fused to PDGFRB in a Patient with a t(5;14)(q33;q24) and an Imatinib-Responsive Myeloproliferative Disorder

    Cancer Research, Vol. 64, Núm. 8, pp. 2673-2676