Lista de obras -

A novel hierarchical prognostic model of AML solely based on molecular mutations

artículo científico publicado en 2012

AML with mutated NPM1 carrying a normal or aberrant karyotype show overlapping biologic, pathologic, immunophenotypic, and prognostic features

artículo científico publicado en 2009

Acute lymphoblastic leukemia with low hypodiploid/near triploid karyotype is a specific clinical entity and exhibits a very high TP53 mutation frequency of 93%.

artículo científico publicado en 2014

CDKN1B, encoding the cyclin-dependent kinase inhibitor 1B (p27), is located in the minimally deleted region of 12p abnormalities in myeloid malignancies and its low expression is a favorable prognostic marker in acute myeloid leukemia ⬇️

artículo científico publicado el 21 de marzo de 2011

Discussion of the applicability of microarrays: profiling of leukemias

artículo científico publicado en 2009

EZH2 mutations and their association with PICALM-MLLT10 positive acute leukaemia

Frequency and Prognostic Impact of CEBPA Proximal, Distal and Core Promoter Methylation in Normal Karyotype AML: A Study on 623 Cases ⬇️

artículo científico publicado el 1 de enero de 2013

Gene expression of BAALC, CDKN1B, ERG, and MN1 adds independent prognostic information to cytogenetics and molecular mutations in adult acute myeloid leukemia ⬇️

artículo científico publicado el 10 de noviembre de 2011

Gene expression profiling in acute myeloid leukaemia (AML).

artículo científico publicado en 2009

Molecular analyses of 15,542 patients with suspected BCR-ABL1-negative myeloproliferative disorders allow to develop a stepwise diagnostic workflow ⬇️

artículo científico publicado el 17 de abril de 2012

Multilineage dysplasia does not influence prognosis in CEBPA-mutated AML, supporting the WHO proposal to classify these patients as a unique entity ⬇️

artículo científico publicado el 22 de marzo de 2012

Mutations of JAK2 and TET2, but not CBL are detectable in a high portion of patients with refractory anemia with ring sideroblasts and thrombocytosis

artículo científico publicado en 2009

Mutations of the TET2 and CBL genes: novel molecular markers in myeloid malignancies

artículo científico publicado en 2010

Next-Generation Sequencing Technology Reveals a Characteristic Pattern of Molecular Mutations in 72.8% of Chronic Myelomonocytic Leukemia by Detecting Frequent Alterations in TET2, CBL, RAS, and RUNX1

article

Prognostic relevance of RUNX1 mutations in T-cell acute lymphoblastic leukemia ⬇️

artículo científico publicado el 9 de agosto de 2011

Rare coincident NPM1 and RUNX1 mutations in intermediate risk acute myeloid leukemia display similar patterns to single mutated cases

artículo científico publicado en 2014

Refractory anemia with ring sideroblasts and marked thrombocytosis cases harbor mutations in SF3B1 or other spliceosome genes accompanied by JAK2V617F and ASXL1 mutations

artículo científico publicado en 2014

Robustness of Amplicon Deep Sequencing Underlines Its Utility in Clinical Applications

scholarly article by Vera Grossmann et al published July 2013 in The Journal of Molecular Diagnostics

SNP array analysis of tyrosine kinase inhibitor-resistant chronic myeloid leukemia identifies heterogeneous secondary genomic alterations

artículo científico publicado en 2009

SRSF2 mutations in 275 cases with chronic myelomonocytic leukemia (CMML)

artículo científico publicado en 2012

Strategy for robust detection of insertions, deletions, and point mutations in CEBPA, a GC-rich content gene, using 454 next-generation deep-sequencing technology

artículo científico publicado en 2011

TP53 mutations occur in 15.7% of ALL and are associated with MYC-rearrangement, low hypodiploidy, and a poor prognosis

artículo científico publicado en 2014

The molecular profile of adult T‐cell acute lymphoblastic leukemia: Mutations in RUNX1 and DNMT3A are associated with poor prognosis in T‐ALL ⬇️

artículo científico publicado el 23 de enero de 2013

Use of CBL exon 8 and 9 mutations in diagnosis of myeloproliferative neoplasms and myelodysplastic/myeloproliferative disorders: an analysis of 636 cases

artículo científico publicado en 2012

Whole-exome sequencing identifies somatic mutations of BCOR in acute myeloid leukemia with normal karyotype

artículo científico publicado en 2011

[Microarrays and gene expression profiling for the diagnosis in leukemia. From research studies to routine application].

artículo científico publicado en 2006

Lista de obras de

A novel hierarchical prognostic model of AML solely based on molecular mutations

AML with mutated NPM1 carrying a normal or aberrant karyotype show overlapping biologic, pathologic, immunophenotypic, and prognostic features

Acute lymphoblastic leukemia with low hypodiploid/near triploid karyotype is a specific clinical entity and exhibits a very high TP53 mutation frequency of 93%.

CDKN1B, encoding the cyclin-dependent kinase inhibitor 1B (p27), is located in the minimally deleted region of 12p abnormalities in myeloid malignancies and its low expression is a favorable prognostic marker in acute myeloid leukemia ⬇️

Discussion of the applicability of microarrays: profiling of leukemias

EZH2 mutations and their association with PICALM-MLLT10 positive acute leukaemia

Frequency and Prognostic Impact of CEBPA Proximal, Distal and Core Promoter Methylation in Normal Karyotype AML: A Study on 623 Cases ⬇️

Gene expression of BAALC, CDKN1B, ERG, and MN1 adds independent prognostic information to cytogenetics and molecular mutations in adult acute myeloid leukemia ⬇️

Gene expression profiling in acute myeloid leukaemia (AML).

Molecular analyses of 15,542 patients with suspected BCR-ABL1-negative myeloproliferative disorders allow to develop a stepwise diagnostic workflow ⬇️

Multilineage dysplasia does not influence prognosis in CEBPA-mutated AML, supporting the WHO proposal to classify these patients as a unique entity ⬇️

Mutations of JAK2 and TET2, but not CBL are detectable in a high portion of patients with refractory anemia with ring sideroblasts and thrombocytosis

Mutations of the TET2 and CBL genes: novel molecular markers in myeloid malignancies

Next-Generation Sequencing Technology Reveals a Characteristic Pattern of Molecular Mutations in 72.8% of Chronic Myelomonocytic Leukemia by Detecting Frequent Alterations in TET2, CBL, RAS, and RUNX1

Prognostic relevance of RUNX1 mutations in T-cell acute lymphoblastic leukemia ⬇️

Rare coincident NPM1 and RUNX1 mutations in intermediate risk acute myeloid leukemia display similar patterns to single mutated cases

Refractory anemia with ring sideroblasts and marked thrombocytosis cases harbor mutations in SF3B1 or other spliceosome genes accompanied by JAK2V617F and ASXL1 mutations

Robustness of Amplicon Deep Sequencing Underlines Its Utility in Clinical Applications

SNP array analysis of tyrosine kinase inhibitor-resistant chronic myeloid leukemia identifies heterogeneous secondary genomic alterations

SRSF2 mutations in 275 cases with chronic myelomonocytic leukemia (CMML)

Strategy for robust detection of insertions, deletions, and point mutations in CEBPA, a GC-rich content gene, using 454 next-generation deep-sequencing technology

TP53 mutations occur in 15.7% of ALL and are associated with MYC-rearrangement, low hypodiploidy, and a poor prognosis

The molecular profile of adult T‐cell acute lymphoblastic leukemia: Mutations in RUNX1 and DNMT3A are associated with poor prognosis in T‐ALL ⬇️

Use of CBL exon 8 and 9 mutations in diagnosis of myeloproliferative neoplasms and myelodysplastic/myeloproliferative disorders: an analysis of 636 cases

Whole-exome sequencing identifies somatic mutations of BCOR in acute myeloid leukemia with normal karyotype

[Microarrays and gene expression profiling for the diagnosis in leukemia. From research studies to routine application].