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List of works by Beatriz Martinez-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

scientific article published on 01 January 2002

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

scientific article

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

scientific article published on 01 May 2016

Alpha-1 antitrypsin deficiency: outstanding questions and future directions.

scientific article published on 11 July 2018

Alpha-1-antitrypsin deficiency associated with the Mattawa variant

scientific article published on 31 October 2013

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

scientific article published on 4 July 2015

CD19/CD5 acute lymphoblastic leukemia

article

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

scientific article published on 12 December 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

scientific article published on 04 September 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.

scientific article

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.

scientific article published on 03 December 2008

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

scientific article published on 21 December 2020

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

scientific article

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

scientific article published on 19 December 2019

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

scientific article published on September 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.

scientific article

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

scientific article published on 18 July 2007

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

scientific article

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

scientific article published on 10 February 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.

scientific article published in July 1999

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

scientific article

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

scientific article published in March 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

scientific article published on 01 February 2000

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

scientific article

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

scientific article published on 18 June 2007

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

scientific article

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

article

In Reply

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

scientific article

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

scientific article published in 2022

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

scientific article published on 25 February 2016

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

scientific article published on 19 June 2014

MicroRNA profile in very young women with breast cancer

scientific article

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

scientific article published on 08 October 2013

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

scientific article

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

scientific article

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

scientific article

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

article

Peripheral T-cell lymphoma gene expression profiles.

scientific article

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

scientific article

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

scientific article published on 15 September 2013

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

scientific article published on 6 April 2012

SpainUDP: The Spanish Undiagnosed Rare Diseases Program

article

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

scientific article published on 17 June 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

scientific article published on 21 December 2010

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

scientific article published on 8 June 2015

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

scientific article

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

scientific article

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