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List of works by Adriana Lasa

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

scientific article (publication date: 2013)
Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction

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

scientific article (publication date: 2001)
Characterization of monoclonal antibodies to calpain 3 and protein expression in muscle from patients with limb-girdle muscular dystrophy type 2A

scientific article published on October 1998
Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers

scientific article published on 05 August 2009
Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer

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

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

scientific article published on 16 April 2009
Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer

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

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

scientific article published in August 2005
Id4 is deregulated by a t(6;14)(p22;q32) chromosomal translocation in a B-cell lineage acute lymphoblastic leukemia.

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

scientific article published on 7 October 2013
A celecoxib derivative inhibits focal adhesion signaling and induces caspase-8-dependent apoptosis in human acute myeloid leukemia cells.

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

scientific article published on 01 June 2008
Acute myeloid leukemia subgroups identified by pathway-restricted gene expression signatures

scientific article published on 01 January 2006
About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants

scientific article published on May 2014
High expression of CEACAM6 and CEACAM8 mRNA in acute lymphoblastic leukemias

scientific article published on 2 October 2007
WT1 monitoring in core binding factor AML: comparison with specific chimeric products

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

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

scientific article
FLT3 mutations are associated with other molecular lesions in AML.

scientific article published in January 2004
Novel mutations in the muscle chloride channel CLCN1 gene causing myotonia congenita in Spanish families

scientific article published on 01 September 1999
Copy number variations are not modifiers of phenotypic expression in a pair of identical twins carrying a BRCA1 mutation

scientific article published on 06 April 2010
No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer

scientific article published in May 2015
A new D816 c-KIT gene mutation in refractory AML1-ETO leukemia

scientific article published on 01 September 2006
Comparative analysis of ZAP-70 expression and Ig VH mutational status in B-cell chronic lymphocytic leukemia.

scientific article
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.

scientific article
Evidence for a link between TNFRSF11A and risk of breast cancer

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

scientific article published on 24 March 2005
Germline ATM mutational analysis in BRCA1/BRCA2 negative hereditary breast cancer families by MALDI-TOF mass spectrometry.

scientific article published on 29 March 2011
Severe limb girdle muscular dystrophy in Spanish gypsies: further evidence for a founder mutation in the gamma-sarcoglycan gene

scientific article published on 01 July 1998
The highly prevalent BRCA2 mutation c.2808_2811del (3036delACAA) is located in a mutational hotspot and has multiple origins.

scientific article published on 8 August 2013
Clinical consequences of BRCA2 hypomorphism

publication published on 09 September 2021
Loss of heterozygosity of the polymorphic PIG3 microsatellite with low frequency in de novo acute myeloid leukemias.

scientific article
Two founder BRCA2 mutations predispose to breast cancer in young women

scientific article published on 01 December 2009
K313dup is a recurrent CEBPA mutation in de novo acute myeloid leukemia (AML)

scientific article published on 28 June 2008
ETO sequence may be dispensable in some AML1-ETO leukemias

scientific article published on 01 December 2002
Microsatellite instability may involve the pentanucleotide repeat of the PIG3 promoter in bcr/abl acute lymphoblastic leukemia

scientific article published on 23 March 2007
p53 mutation in a case of blastic transformation of follicular lymphoma with double bcl-2 rearrangement (MBR and VCR).

scientific article published in May 1998
Muscular dystrophy due to a mutation in the gene of alpha-sarcoglycan subunit of dystrophin associated protein complex

scientific article published on April 25, 1998
AML-1 mutations outside the RUNT domain: description of two cases in myeloid malignancies

scientific article published on 01 November 2002
Three novel point mutations in the dystrophin gene in DMD patients

scientific article published on 01 January 1997
Two new variants of RAG-1 protein predicted by SSCP

scientific article published on 01 January 1996
Gefitinib and afatinib show potential efficacy for Fanconi anemia-related head and neck cancer

scientific article published on 31 January 2020
Epigenetic-based treatments emphasize the biologic differences of core-binding factor acute myeloid leukemias.

scientific article published on 21 February 2008
Investigaciones arqueológicas en Punta Bustamante, Prov. de Santa Cruz: el sitio RUD01BK

book section published in 2004
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
Role of IL6R Genetic Variants in Predicting Response to Tocilizumab in Patients with Rheumatoid Arthritis

scientific article published in 2022
A novel insertional mutation of a single base on exon 12 of the dystrophin gene

scientific article published on 01 September 1995

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