Javier Alonso

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Publications in SciGraph latest 50 shown

  • 2021-09-16 Therapeutic targeting of the PLK1-PRC1-axis triggers cell death in genomically silent childhood cancer in NATURE COMMUNICATIONS
  • 2021-01-21 Sarcoma classification by DNA methylation profiling in NATURE COMMUNICATIONS
  • 2020-12-17 Molecular Approaches to Diagnosis in Ewing Sarcoma: RT-PCR in EWING SARCOMA
  • 2020-02-10 Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum in ORPHANET JOURNAL OF RARE DISEASES
  • 2019-11-26 Frequency of low-level and high-level mosaicism in sporadic retinoblastoma: genotype–phenotype relationships in JOURNAL OF HUMAN GENETICS
  • 2018-08-09 Genome-wide association study identifies multiple new loci associated with Ewing sarcoma susceptibility in NATURE COMMUNICATIONS
  • 2018-06-07 Primary intracranial spindle cell sarcoma with rhabdomyosarcoma-like features share a highly distinct methylation profile and DICER1 mutations in ACTA NEUROPATHOLOGICA
  • 2018-05-05 DNA methylation-based reclassification of olfactory neuroblastoma in ACTA NEUROPATHOLOGICA
  • 2017-09-18 DNA Methylomes Reveal Biological Networks Involved in Human Eye Development, Functions and Associated Disorders in SCIENTIFIC REPORTS
  • 2017-09-14 Exome array analysis identifies ETFB as a novel susceptibility gene for anthracycline-induced cardiotoxicity in cancer patients in BREAST CANCER RESEARCH AND TREATMENT
  • 2017-07-03 EWS-FLI1 perturbs MRTFB/YAP-1/TEAD target gene regulation inhibiting cytoskeletal autoregulatory feedback in Ewing sarcoma in ONCOGENE
  • 2016-07-04 EWS-FLI1-mediated suppression of the RAS-antagonist Sprouty 1 (SPRY1) confers aggressiveness to Ewing sarcoma in ONCOGENE
  • 2016-01-14 Familial retinoblastoma due to intronic LINE-1 insertion causes aberrant and noncanonical mRNA splicing of the RB1 gene in JOURNAL OF HUMAN GENETICS
  • 2015-07-27 Chimeric EWSR1-FLI1 regulates the Ewing sarcoma susceptibility gene EGR2 via a GGAA microsatellite in NATURE GENETICS
  • 2014-10-07 Severe alpha-1 antitrypsin deficiency in composite heterozygotes inheriting a new splicing mutation QOMadrid in RESPIRATORY RESEARCH
  • 2012-02-12 Common variants near TARDBP and EGR2 are associated with susceptibility to Ewing sarcoma in NATURE GENETICS
  • 2011-05-03 Low penetrance hereditary retinoblastoma in a family: what should we consider in the genetic counselling process and follow up? in FAMILIAL CANCER
  • 2008-06-30 DAX1, a direct target of EWS/FLI1 oncoprotein, is a principal regulator of cell-cycle progression in Ewing's tumor cells in ONCOGENE
  • 2008-06-24 Comparison of different techniques for the detection of genetic risk-identifying chromosomal gains and losses in neuroblastoma in VIRCHOWS ARCHIV
  • 2007-10-22 Array CGH and gene-expression profiling reveals distinct genomic instability patterns associated with DNA repair and cell-cycle checkpoint pathways in Ewing's sarcoma in ONCOGENE
  • 2006-09-14 New RB1 oncogenic mutations and intronic polymorphisms in Serbian retinoblastoma patients: genetic counseling implications in JOURNAL OF HUMAN GENETICS
  • 2005-11-04 RB1 gene mutation up-date, a meta-analysis based on 932 reported mutations available in a searchable database in BMC GENETICS
  • 2003-11-19 Two new mutations and three novel polymorphisms in the RB1 gene in Ecuadorian patients in JOURNAL OF HUMAN GENETICS
  • 2003-03-04 Implications of a RAD54L polymorphism (2290C/T) in human meningiomas as a risk factor and/or a genetic marker in BMC CANCER
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