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Lista de obras de Beatriz Martínez-Delgado

A haplotype containing thep53polymorphisms Ins16bp and Arg72Pro modifies cancer risk inBRCA2mutation carriers

scientific article published on 01 March 2006

A rapid and easy method for multiple endocrine neoplasia type 1 mutation detection using conformation-sensitive gel electrophoresis

artículo científico publicado en 2002

Allelic expression and quantitative RT-PCR study of TAp73 and DeltaNp73 in non-Hodgkin's lymphomas

artículo científico publicado en 2005

Alpha-1 Antitrypsin Regulates Transcriptional Levels of Serine Proteases in Blood Mononuclear Cells

artículo científico publicado en 2016

Alpha-1 antitrypsin deficiency: outstanding questions and future directions

artículo científico publicado en 2018

Alpha-1-antitrypsin deficiency associated with the Mattawa variant

artículo científico publicado en 2013

Alternative transcripts of the SERPINA1 gene in alpha-1 antitrypsin deficiency

artículo científico publicado en 2015

CD19/CD5 acute lymphoblastic leukemia

article

Characterization of Novel Missense Variants of SERPINA1 Gene Causing Alpha-1 Antitrypsin Deficiency

artículo científico publicado en 2017

Chromosomal changes pattern and gene amplification in T cell non-Hodgkin's lymphomas

article

Clinical Significance of SERPINA1 Gene and Its Encoded Alpha1-antitrypsin Protein in NSCLC

artículo científico publicado en 2019

Coincidental LOH regions in mouse and humans: evidence for novel tumor suppressor loci at 9q22?q34 in non-Hodgkin?s lymphomas

article

Complex cytogenetic abnormalities including telomeric associations and MEN1 mutation in a pediatric ependymoma.

artículo científico publicado en 2002

Correlation between mutations in p53 gene and protein expression in human lymphomas

article

Current and future aggressive peripheral T-cell lymphoma treatment paradigms, biological features and therapeutic molecular targets.

artículo científico publicado en 2008

De novo small deletion affecting transcription start site of short isoform of AUTS2 gene in a patient with syndromic neurodevelopmental defects

artículo científico publicado en 2020

Deregulated miRNAs in hereditary breast cancer revealed a role for miR-30c in regulating KRAS oncogene

artículo científico publicado en 2012

Diagnostic Performance of a Lateral Flow Assay for the Detection of Alpha-1-Antitrypsin Deficiency

artículo científico publicado en 2019

Different incidence and pattern of p15INK4b and p16INK4a promoter region hypermethylation in Hodgkin's and CD30-Positive non-Hodgkin's lymphomas

artículo científico publicado en 2002

Differential expression of NF-κB pathway genes among peripheral T-cell lymphomas

article

Evaluation of the BRCA1 interacting genes RAP80 and CCDC98 in familial breast cancer susceptibility

artículo científico publicado en 2008

Expression of CYP3A4 as a predictor of response to chemotherapy in peripheral T-cell lymphomas

artículo científico publicado en 2007

Expression profiling of T-cell lymphomas differentiates peripheral and lymphoblastic lymphomas and defines survival related genes

artículo científico publicado en 2004

Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum

artículo científico publicado en 2020

Frequency of low-level and high-level mosaicism in sporadic retinoblastoma: genotype-phenotype relationships

scientific article published on 26 November 2019

Frequent inactivation of thep73gene by abnormal methylation or LOH in non-Hodgkin's lymphomas

article

Gene expression analysis of chromosomal regions with gain or loss of genetic material detected by comparative genomic hybridization

article

Genetic and clinical analysis in 10 Spanish patients with multiple endocrine neoplasia type 1.

artículo científico publicado en 1999

Genetic anticipation is associated with telomere shortening in hereditary breast cancer.

artículo científico publicado en 2011

Gross SDHB deletions in patients with paraganglioma detected by multiplex PCR: a possible hot spot?

artículo científico publicado en 2006

Hypermethylation of P16ink4a and P15ink4b genes as a marker of disease in the follow-up of non-Hodgkin's lymphomas

article

Identification by Comparative Genomic Hybridization of Genetic Changes Involved in Tumoral Progression of a T-Cell Non-Hodgkin Lymphoma

artículo científico publicado en 2000

Identification of Novel Short C-Terminal Transcripts of Human SERPINA1 Gene

artículo científico publicado en 2017

Identification of a Proliferation Signature Related to Survival in Nodal Peripheral T-Cell Lymphomas

artículo científico publicado en 2007

Identification of amplified and highly expressed genes in amplicons of the T-cell line huT78 detected by cDNA microarray CGH

artículo científico publicado en 2005

IgH, TCR-γ, and TCR-β Gene Rearrangement in 80 B- and T-Cell Non-Hodgkin's Lymphomas: Study of the Association Between Proliferation and the So-called “Aberrant” Patterns

artículo científico publicado en 2001

In Reply

Integration of BRCA1-mediated miRNA and mRNA profiles reveals microRNA regulation of TRAF2 and NFκB pathway.

artículo científico publicado en 2011

Liver organoids reproduce alpha-1 antitrypsin deficiency-related liver disease

scientific article published on 13 December 2019

Lung Adenocarcinoma Cell Sensitivity to Chemotherapies: A Spotlight on Lipid Droplets and SREBF1 Gene

artículo científico publicado en 2022

MicroRNA deregulation in triple negative breast cancer reveals a role of miR-498 in regulating BRCA1 expression.

artículo científico publicado en 2016

MicroRNA expression signatures for the prediction of BRCA1/2 mutation-associated hereditary breast cancer in paraffin-embedded formalin-fixed breast tumors

artículo científico publicado en 2014

MicroRNA profile in very young women with breast cancer

artículo científico publicado en 2014

MicroRNA-based molecular classification of non-BRCA1/2 hereditary breast tumours

artículo científico publicado en 2013

Mitotic catastrophe cell death induced by heat shock protein 90 inhibitor in BRCA1-deficient breast cancer cell lines

artículo científico publicado en 2008

Molecular signature of response and potential pathways related to resistance to the HSP90 inhibitor, 17AAG, in breast cancer

artículo científico publicado en 2010

Molecular study of a new family with hereditary renal cell carcinoma and a translocation t(3;8)(p13;q24.1).

artículo científico publicado en 2002

Mutational analysis of telomere genes in BRCA1/2-negative breast cancer families with very short telomeres

article

Peripheral T-cell lymphoma gene expression profiles.

artículo científico publicado en 2006

Registro español de pacientes con déficit de alfa-1 antitripsina: evaluación de la base de datos y análisis de la población incluida

Severe alpha-1 antitrypsin deficiency in composite heterozygotes inheriting a new splicing mutation QOMadrid

artículo científico publicado en 2014

Short telomeres are frequent in hereditary breast tumors and are associated with high tumor grade

artículo científico publicado en 2013

Shorter telomere length is associated with increased ovarian cancer risk in both familial and sporadic cases.

artículo científico publicado en 2012

SpainUDP: The Spanish Undiagnosed Rare Diseases Program

article

Spanish Registry of Patients With Alpha-1 Antitrypsin Deficiency: Database Evaluation and Population Analysis

artículo científico publicado en 2016

The miR-200 family controls -tubulin III expression and is associated with paclitaxel-based treatment response and progression-free survival in ovarian cancer patients

artículo científico publicado en 2010

Tumor microRNA expression profiling identifies circulating microRNAs for early breast cancer detection

artículo científico publicado en 2015

Why do some adults with PiMZ α1-antitrypsin develop bronchiectasis?

artículo científico publicado en 2016

miRNA expression profiling of formalin-fixed paraffin-embedded (FFPE) hereditary breast tumors

artículo científico publicado en 2014