Lista de obras -

Advantages and Limitations of SNP Array in the Molecular Characterization of Pediatric T-Cell Acute Lymphoblastic Leukemia

scientific article published on 17 July 2020

Asparagine synthetase (ASNS) gene polymorphism is associated with the outcome of childhood acute lymphoblastic leukemia by affecting early response to treatment.

artículo científico publicado en 2013

Biallelic loss of CDKN2A is associated with poor response to treatment in pediatric acute lymphoblastic leukemia.

artículo científico publicado en 2016

Broad phenotypic spectrum of germline 7p12.1 microdeletions encompassing the IKZF1 gene includes predisposition to acute lymphoblastic leukemia

scientific article published on 02 November 2020

Clinical course and therapeutic implications for lymphoid malignancies in Nijmegen breakage syndrome

artículo científico publicado en 2016

DNA copy number alterations mark disease progression in paediatric chronic myeloid leukaemia

artículo científico publicado en 2014

Defective DNA damage repair leads to frequent catastrophic genomic events in murine and human tumors

scientific article published in Nature Communications

GATA3 germline variant is associated with CRLF2 expression and predicts outcome in pediatric B-cell precursor acute lymphoblastic leukemia

artículo científico publicado en 2019

Gene expression of ASNS, LGMN and CTSB is elevated in a subgroup of childhood BCP-ALL with PAX5 deletion

artículo científico publicado en 2019

Genomic profiling of Acute lymphoblastic leukemia in ataxia telangiectasia patients reveals tight link between ATM mutations and chromothripsis

artículo científico publicado en 2017

Germline activating TYK2 mutations in pediatric patients with two primary acute lymphoblastic leukemia occurrences

artículo científico publicado en 2016

Haemophilia A and cardiovascular morbidity in a female SHAM syndrome carrier due to skewed X chromosome inactivation

artículo científico publicado en 2015

Hematopoietic stem cell transplantation positively affects the natural history of cancer in Nijmegen breakage syndrome

artículo científico publicado en 2020

Heterozygous carriers of germline c.657_661del5 founder mutation in NBN gene are at risk of central nervous system relapse of B-cell precursor acute lymphoblastic leukemia.

artículo científico publicado en 2018

High yield of pathogenic germline mutations causative or likely causative of the cancer phenotype in selected children with cancer

artículo científico publicado en 2018

Impact of mTOR expression on clinical outcome in paediatric patients with B-cell acute lymphoblastic leukaemia - preliminary report

artículo científico publicado en 2016

Influence of genomic variation in FTO at 16q12.2, MC4R at 18q22 and NRXN3 at 14q31 genes on breast cancer risk

artículo científico publicado en 2011

Intragenic amplification of : a novel subgroup in B-cell precursor acute lymphoblastic leukemia?

scientific article published on 14 August 2017

MLPA as a complementary tool for diagnosis of chromosome 21 aberrations in childhood BCP-ALL

scientific article published on 27 August 2019

Microarray testing as an efficient tool to redefine hyperdiploid paediatric B-cell precursor acute lymphoblastic leukaemia patients

artículo científico publicado en 2019

Nijmegen breakage syndrome (NBS) as a risk factor for CNS involvement in childhood acute lymphoblastic leukemia

artículo científico publicado en 2011

Novel FANCA mutation in the first fully-diagnosed patient with Fanconi anemia in Polish population - case report

artículo científico publicado en 2020

Novel severe hemophilia A and moyamoya (SHAM) syndrome caused by Xq28 deletions encompassing F8 and BRCC3 genes

artículo científico publicado en 2014

Perforin gene variation influences survival in childhood acute lymphoblastic leukemia

artículo científico publicado en 2018

Polymorphism in IKZF1 gene affects age at onset of childhood acute lymphoblastic leukemia

scientific article published on 02 April 2014

Polymorphism in IKZF1 gene affects clinical outcome in diffuse large B-cell lymphoma

artículo científico publicado en 2017

Polymorphisms of TNF and IL-10 genes and clinical outcome of patients with chronic lymphocytic leukemia

artículo científico publicado en 2012

Preserved global histone H4 acetylation linked to ETV6-RUNX1 fusion and PAX5 deletions is associated with favorable outcome in pediatric B-cell progenitor acute lymphoblastic leukemia.

artículo científico publicado en 2015

Raman-based spectrophenotyping of the most important cells of the immune system

artículo científico publicado en 2022

Role of 657del5 NBN mutation and 7p12.2 (IKZF1), 9p21 (CDKN2A), 10q21.2 (ARID5B) and 14q11.2 (CEBPE) variation and risk of childhood ALL in the Polish population.

artículo científico publicado en 2011

Role of base-excision repair in the treatment of childhood acute lymphoblastic leukaemia with 6-mercaptopurine and high doses of methotrexate

artículo científico publicado en 2011

Secondary acute monocytic leukemia positive for 11q23 rearrangement in Nijmegen breakage syndrome

artículo científico publicado en 2014

Selected miRNA levels are associated with IKZF1 microdeletions in pediatric acute lymphoblastic leukemia.

artículo científico publicado en 2017

Surface expression of Cytokine Receptor-Like Factor 2 increases risk of relapse in pediatric acute lymphoblastic leukemia patients harboring IKZF1 deletions.

artículo científico publicado en 2018

Targeting the thioredoxin system as a novel strategy against B-cell acute lymphoblastic leukemia

artículo científico publicado en 2019

The Role of Histone Protein Modifications and Mutations in Histone Modifiers in Pediatric B-Cell Progenitor Acute Lymphoblastic Leukemia

artículo científico publicado en 2017

Towards Raman-Based Screening of Acute Lymphoblastic Leukemia-Type B (B-ALL) Subtypes

artículo científico publicado en 2021

Validation of the United Kingdom copy-number alteration classifier in 3239 children with B-cell precursor ALL

artículo científico publicado en 2019

Lista de obras de

Advantages and Limitations of SNP Array in the Molecular Characterization of Pediatric T-Cell Acute Lymphoblastic Leukemia

Asparagine synthetase (ASNS) gene polymorphism is associated with the outcome of childhood acute lymphoblastic leukemia by affecting early response to treatment.

Biallelic loss of CDKN2A is associated with poor response to treatment in pediatric acute lymphoblastic leukemia.

Broad phenotypic spectrum of germline 7p12.1 microdeletions encompassing the IKZF1 gene includes predisposition to acute lymphoblastic leukemia

Clinical course and therapeutic implications for lymphoid malignancies in Nijmegen breakage syndrome

DNA copy number alterations mark disease progression in paediatric chronic myeloid leukaemia

Defective DNA damage repair leads to frequent catastrophic genomic events in murine and human tumors

GATA3 germline variant is associated with CRLF2 expression and predicts outcome in pediatric B-cell precursor acute lymphoblastic leukemia

Gene expression of ASNS, LGMN and CTSB is elevated in a subgroup of childhood BCP-ALL with PAX5 deletion

Genomic profiling of Acute lymphoblastic leukemia in ataxia telangiectasia patients reveals tight link between ATM mutations and chromothripsis

Germline activating TYK2 mutations in pediatric patients with two primary acute lymphoblastic leukemia occurrences

Haemophilia A and cardiovascular morbidity in a female SHAM syndrome carrier due to skewed X chromosome inactivation

Hematopoietic stem cell transplantation positively affects the natural history of cancer in Nijmegen breakage syndrome

Heterozygous carriers of germline c.657_661del5 founder mutation in NBN gene are at risk of central nervous system relapse of B-cell precursor acute lymphoblastic leukemia.

High yield of pathogenic germline mutations causative or likely causative of the cancer phenotype in selected children with cancer

Impact of mTOR expression on clinical outcome in paediatric patients with B-cell acute lymphoblastic leukaemia - preliminary report

Influence of genomic variation in FTO at 16q12.2, MC4R at 18q22 and NRXN3 at 14q31 genes on breast cancer risk

Intragenic amplification of : a novel subgroup in B-cell precursor acute lymphoblastic leukemia?

MLPA as a complementary tool for diagnosis of chromosome 21 aberrations in childhood BCP-ALL

Microarray testing as an efficient tool to redefine hyperdiploid paediatric B-cell precursor acute lymphoblastic leukaemia patients

Nijmegen breakage syndrome (NBS) as a risk factor for CNS involvement in childhood acute lymphoblastic leukemia

Novel FANCA mutation in the first fully-diagnosed patient with Fanconi anemia in Polish population - case report

Novel severe hemophilia A and moyamoya (SHAM) syndrome caused by Xq28 deletions encompassing F8 and BRCC3 genes

Perforin gene variation influences survival in childhood acute lymphoblastic leukemia

Polymorphism in IKZF1 gene affects age at onset of childhood acute lymphoblastic leukemia

Polymorphism in IKZF1 gene affects clinical outcome in diffuse large B-cell lymphoma

Polymorphisms of TNF and IL-10 genes and clinical outcome of patients with chronic lymphocytic leukemia

Preserved global histone H4 acetylation linked to ETV6-RUNX1 fusion and PAX5 deletions is associated with favorable outcome in pediatric B-cell progenitor acute lymphoblastic leukemia.

Raman-based spectrophenotyping of the most important cells of the immune system

Role of 657del5 NBN mutation and 7p12.2 (IKZF1), 9p21 (CDKN2A), 10q21.2 (ARID5B) and 14q11.2 (CEBPE) variation and risk of childhood ALL in the Polish population.

Role of base-excision repair in the treatment of childhood acute lymphoblastic leukaemia with 6-mercaptopurine and high doses of methotrexate

Secondary acute monocytic leukemia positive for 11q23 rearrangement in Nijmegen breakage syndrome

Selected miRNA levels are associated with IKZF1 microdeletions in pediatric acute lymphoblastic leukemia.

Surface expression of Cytokine Receptor-Like Factor 2 increases risk of relapse in pediatric acute lymphoblastic leukemia patients harboring IKZF1 deletions.

Targeting the thioredoxin system as a novel strategy against B-cell acute lymphoblastic leukemia

The Role of Histone Protein Modifications and Mutations in Histone Modifiers in Pediatric B-Cell Progenitor Acute Lymphoblastic Leukemia

Towards Raman-Based Screening of Acute Lymphoblastic Leukemia-Type B (B-ALL) Subtypes

Validation of the United Kingdom copy-number alteration classifier in 3239 children with B-cell precursor ALL