Lista de obras - Adriana Lasa - Dominio Público Uruguay

A celecoxib derivative inhibits focal adhesion signaling and induces caspase-8-dependent apoptosis in human acute myeloid leukemia cells.

artículo científico publicado en 2008

A new D816 c-KIT gene mutation in refractory AML1-ETO leukemia

artículo científico publicado en 2006

A novel insertional mutation of a single base on exon 12 of the dystrophin gene

artículo científico publicado en 1995

AML-1 mutations outside the RUNT domain: description of two cases in myeloid malignancies

artículo científico publicado en 2002

About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants

artículo científico

Acute myeloid leukemia subgroups identified by pathway-restricted gene expression signatures

artículo científico publicado en 2006

Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases

artículo científico publicado en 2013

Characterization of monoclonal antibodies to calpain 3 and protein expression in muscle from patients with limb-girdle muscular dystrophy type 2A

artículo científico publicado en 1998

Clinical consequences of BRCA2 hypomorphism

publication published on 09 September 2021

Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction

artículo científico publicado en 2010

Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers

scientific article published on 05 August 2009

Comparative analysis of ZAP-70 expression and Ig VH mutational status in B-cell chronic lymphocytic leukemia.

artículo científico publicado en 2007

Copy number variations are not modifiers of phenotypic expression in a pair of identical twins carrying a BRCA1 mutation

artículo científico publicado en 2010

Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer

Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype

artículo científico publicado en 2001

ETO sequence may be dispensable in some AML1-ETO leukemias

artículo científico publicado en 2002

Epigenetic-based treatments emphasize the biologic differences of core-binding factor acute myeloid leukemias.

artículo científico

Evaluation of rare variants in the new fanconi anemia gene ERCC4 (FANCQ) as familial breast/ovarian cancer susceptibility alleles.

artículo científico publicado en 2013

Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2.

artículo científico publicado en 2011

Evidence for a link between TNFRSF11A and risk of breast cancer

article

FLT3 mutations are associated with other molecular lesions in AML.

artículo científico publicado en 2004

Gefitinib and afatinib show potential efficacy for Fanconi anemia-related head and neck cancer

artículo científico publicado en 2020

Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk

artículo científico publicado en 2013

Germline ATM mutational analysis in BRCA1/BRCA2 negative hereditary breast cancer families by MALDI-TOF mass spectrometry.

artículo científico publicado en 2011

High expression of CEACAM6 and CEACAM8 mRNA in acute lymphoblastic leukemias.

artículo científico publicado en 2007

Id4 is deregulated by a t(6;14)(p22;q32) chromosomal translocation in a B-cell lineage acute lymphoblastic leukemia.

artículo científico publicado en 2003

Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population.

artículo científico publicado en 2005

Intergenic polymorphisms in the amphiregulin gene region as biomarkers in metastatic colorectal cancer patients treated with anti-EGFR plus irinotecan.

artículo científico publicado en 2013

Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer

artículo científico publicado en 2011

K313dup is a recurrent CEBPA mutation in de novo acute myeloid leukemia (AML)

scientific article published on 28 June 2008

Loss of heterozygosity of the polymorphic PIG3 microsatellite with low frequency in de novo acute myeloid leukemias.

artículo científico publicado en 2004

Microsatellite instability is not an uncommon finding in adult de novo acute myeloid leukemia

scientific article published on 24 March 2005

Microsatellite instability may involve the pentanucleotide repeat of the PIG3 promoter in bcr/abl acute lymphoblastic leukemia

scientific article published on 23 March 2007

Molecular detection of peripheral blood breast cancer mRNA transcripts as a surrogate biomarker for circulating tumor cells

artículo científico publicado en 2013

Mutational analysis of RAG-1 in lymphoid malignancies

scientific article published on 01 November 1996

Mutational analysis of p53 in 16 cases of acute lymphoblastic leukemia and Burkitt's lymphoma

artículo científico publicado en 1997

No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.

artículo científico publicado en 2015

Novel mutations in the muscle chloride channel CLCN1 gene causing myotonia congenita in Spanish families

artículo científico publicado en 1999

Parity and the risk of breast and ovarian cancer in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2009

Polymorphism in the RAG-1 gene identified by SSCP

scientific article published on 01 January 1995

Prognostic value of minimal residual disease (MRD) in acute myeloid leukemia (AML) with favorable cytogenetics [t(8;21) and inv(16)].

artículo científico publicado en 2006

Role of IL6R Genetic Variants in Predicting Response to Tocilizumab in Patients with Rheumatoid Arthritis

artículo científico publicado en 2022

Severe limb girdle muscular dystrophy in Spanish gypsies: further evidence for a founder mutation in the gamma-sarcoglycan gene

artículo científico publicado en 1998

The highly prevalent BRCA2 mutation c.2808_2811del (3036delACAA) is located in a mutational hotspot and has multiple origins.

artículo científico publicado en 2013

Three novel point mutations in the dystrophin gene in DMD patients

scientific article published on 01 January 1997

Two founder BRCA2 mutations predispose to breast cancer in young women

scientific article published on 01 December 2009

Two new variants of RAG-1 protein predicted by SSCP

scientific article published on 01 January 1996

Uniparental disomy may be associated with microsatellite instability in acute myeloid leukemia (AML) with a normal karyotype

artículo científico publicado en 2008

WT1 monitoring in core binding factor AML: comparison with specific chimeric products

artículo científico publicado en 2009

[Alterations in functional proteins. Calpaine-3 deficiency]

artículo científico publicado en 1999

[Dystrophinopathies]

artículo científico publicado en 1995

[Muscular dystrophy due to a deficit of gamma-sarcoglycan. A report of three patients with the Delta-521t mutation]

scientific article published on 01 March 2002

p53 mutation in a case of blastic transformation of follicular lymphoma with double bcl-2 rearrangement (MBR and VCR).

artículo científico publicado en 1998

Investigaciones arqueológicas en Punta Bustamante, Prov. de Santa Cruz: el sitio RUD01BK

capitulo de libro publicado en 2004

Lista de obras de Adriana Lasa

A celecoxib derivative inhibits focal adhesion signaling and induces caspase-8-dependent apoptosis in human acute myeloid leukemia cells.

A new D816 c-KIT gene mutation in refractory AML1-ETO leukemia

A novel insertional mutation of a single base on exon 12 of the dystrophin gene

AML-1 mutations outside the RUNT domain: description of two cases in myeloid malignancies

About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants

Acute myeloid leukemia subgroups identified by pathway-restricted gene expression signatures

Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases

Characterization of monoclonal antibodies to calpain 3 and protein expression in muscle from patients with limb-girdle muscular dystrophy type 2A

Clinical consequences of BRCA2 hypomorphism

Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction

Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers

Comparative analysis of ZAP-70 expression and Ig VH mutational status in B-cell chronic lymphocytic leukemia.

Copy number variations are not modifiers of phenotypic expression in a pair of identical twins carrying a BRCA1 mutation

Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer

Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype

ETO sequence may be dispensable in some AML1-ETO leukemias

Epigenetic-based treatments emphasize the biologic differences of core-binding factor acute myeloid leukemias.

Evaluation of rare variants in the new fanconi anemia gene ERCC4 (FANCQ) as familial breast/ovarian cancer susceptibility alleles.

Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2.

Evidence for a link between TNFRSF11A and risk of breast cancer

FLT3 mutations are associated with other molecular lesions in AML.

Gefitinib and afatinib show potential efficacy for Fanconi anemia-related head and neck cancer

Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk

Germline ATM mutational analysis in BRCA1/BRCA2 negative hereditary breast cancer families by MALDI-TOF mass spectrometry.

High expression of CEACAM6 and CEACAM8 mRNA in acute lymphoblastic leukemias.

Id4 is deregulated by a t(6;14)(p22;q32) chromosomal translocation in a B-cell lineage acute lymphoblastic leukemia.

Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population.

Intergenic polymorphisms in the amphiregulin gene region as biomarkers in metastatic colorectal cancer patients treated with anti-EGFR plus irinotecan.

Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer

K313dup is a recurrent CEBPA mutation in de novo acute myeloid leukemia (AML)

Loss of heterozygosity of the polymorphic PIG3 microsatellite with low frequency in de novo acute myeloid leukemias.

Microsatellite instability is not an uncommon finding in adult de novo acute myeloid leukemia

Microsatellite instability may involve the pentanucleotide repeat of the PIG3 promoter in bcr/abl acute lymphoblastic leukemia

Molecular detection of peripheral blood breast cancer mRNA transcripts as a surrogate biomarker for circulating tumor cells

Mutational analysis of RAG-1 in lymphoid malignancies

Mutational analysis of p53 in 16 cases of acute lymphoblastic leukemia and Burkitt's lymphoma

No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.

Novel mutations in the muscle chloride channel CLCN1 gene causing myotonia congenita in Spanish families

Parity and the risk of breast and ovarian cancer in BRCA1 and BRCA2 mutation carriers

Polymorphism in the RAG-1 gene identified by SSCP

Prognostic value of minimal residual disease (MRD) in acute myeloid leukemia (AML) with favorable cytogenetics [t(8;21) and inv(16)].

Role of IL6R Genetic Variants in Predicting Response to Tocilizumab in Patients with Rheumatoid Arthritis

Severe limb girdle muscular dystrophy in Spanish gypsies: further evidence for a founder mutation in the gamma-sarcoglycan gene

The highly prevalent BRCA2 mutation c.2808_2811del (3036delACAA) is located in a mutational hotspot and has multiple origins.

Three novel point mutations in the dystrophin gene in DMD patients

Two founder BRCA2 mutations predispose to breast cancer in young women

Two new variants of RAG-1 protein predicted by SSCP

Uniparental disomy may be associated with microsatellite instability in acute myeloid leukemia (AML) with a normal karyotype

WT1 monitoring in core binding factor AML: comparison with specific chimeric products

[Alterations in functional proteins. Calpaine-3 deficiency]

[Dystrophinopathies]

[Muscular dystrophy due to a deficit of gamma-sarcoglycan. A report of three patients with the Delta-521t mutation]

p53 mutation in a case of blastic transformation of follicular lymphoma with double bcl-2 rearrangement (MBR and VCR).

Investigaciones arqueológicas en Punta Bustamante, Prov. de Santa Cruz: el sitio RUD01BK