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List of works by Mercedes Robledo

15 YEARS OF PARAGANGLIOMA: The association of pituitary adenomas and phaeochromocytomas or paragangliomas

scientific article published on 25 June 2015

A Multiparametric Study of Malignant Lymphoma of Mucosa Associated Lymphoid Tissue (Malt)

scientific article published on 01 September 1992

A high-resolution map of the regulator of the complement activation gene cluster on 1q32 that integrates new genes and markers

article

A novel AXIN2 germline variant associated with attenuated FAP without signs of oligondontia or ectodermal dysplasia

scientific article published on 10 July 2013

A novel candidate region linked to development of both pheochromocytoma and head/neck paraganglioma

article

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

APLP2, RRM2, and PRC1: New Putative Markers for the Differential Diagnosis of Thyroid Follicular Lesions.

scientific article

ATRX driver mutation in a composite malignant pheochromocytoma

scientific article

About the origin and development of hereditary conventional renal cell carcinoma in a four-generation t(3;8)(p14.1;q24.23) family

scientific article

Advanced sporadic renal epithelioid angiomyolipoma: case report of an extraordinary response to sirolimus linked to TSC2 mutation.

scientific article

Age-related neoplastic risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germ line RET Cys634Trp (TGC>TGG) mutation.

scientific article published on 15 September 2008

Allelic variant at -79 (C>T) in CDKN1B (p27Kip1) confers an increased risk of thyroid cancer and alters mRNA levels.

scientific article

An epistatic interaction between the PAX8 and STK17B genes in papillary thyroid cancer susceptibility.

scientific article

An update on the genetics of paraganglioma, pheochromocytoma, and associated hereditary syndromes.

scientific article published on 10 February 2012

Are we overestimating the penetrance of mutations in SDHB?

scientific article published in June 2010

Association Study of 69 Genes in the Ret Pathway Identifies Low-penetrance Loci in Sporadic Medullary Thyroid Carcinoma

article

Association studies in thyroid cancer susceptibility: are we on the right track? ⬇️

scientific article published on 03 August 2011

Biallelic TSC2 Mutations in a Patient With Chromophobe Renal Cell Carcinoma Showing Extraordinary Response to Temsirolimus

scientific article published on 01 April 2018

Brick1 is an essential regulator of actin cytoskeleton required for embryonic development and cell transformation

scientific journal article

Características clínicas y moleculares de una familia con síndrome de neoplasia endocrina múltiple tipo 1

scientific article published on 01 December 2008

Cellular senescence bypass screen identifies new putative tumor suppressor genes

scientific article published on 29 October 2007

Characteristics of Pediatric vs Adult Pheochromocytomas and Paragangliomas

scientific article

Characterization of neuroendocrine tumors in heterozygous mutant MENX rats: a novel model of invasive medullary thyroid carcinoma.

scientific article published on 15 November 2017

Characterization of novel CYP2C8 haplotypes and their contribution to paclitaxel and repaglinide metabolism

scientific article published on 9 October 2007

Chromosomal mosaicism for isochromosome 11q confined to CVS direct preparations

scientific article

Clinical and genetic characterization of classical forms of familial adenomatous polyposis: a Spanish population study

scientific article published on 5 October 2010

Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out

scientific article published on 7 April 2009

Cloning of human heterohybridoma cell lines using chronic lymphocytic leukemia B cells as a feeder layer.

scientific article published in December 1991

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

Concurrence of germline mutations in the APC and PTEN genes in a colonic polyposis family member.

scientific article published in June 2004

Consensus Statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas

scientific article published on 18 November 2016

Consensus document on the implementation of next generation sequencing in the genetic diagnosis of hereditary cancer.

scientific article published on 10 February 2018

Correlation between cytogenetic and molecular analysis of t(14;18) in follicular lymphomas

scientific article published in March 1992

Cowden disease in a family: A clinical and genetic diagnosis

scientific article published on 01 August 2005

Cytochrome P450 3A5 is highly expressed in normal prostate cells but absent in prostate cancer

scientific article published in September 2007

Cytogenetic study of B-cell lymphoma of mucosa-associated lymphoid tissue

scientific article published on 01 September 1992

DNA Methylation Profiling in Pheochromocytoma and Paraganglioma Reveals Diagnostic and Prognostic Markers

scientific article published on 30 March 2015

DNA methylation profiling of well-differentiated thyroid cancer uncovers markers of recurrence free survival.

scientific article

DNA methylation signatures identify biologically distinct thyroid cancer subtypes.

scientific article published on 10 May 2013

Deep sequencing reveals microRNAs predictive of antiangiogenic drug response

scientific article published on 07 July 2016

Dermal Hyperneury and Multiple Sclerotic Fibromas in Multiple Endocrine Neoplasia Type 2A Syndrome

scientific article published on 18 October 2017

Detection of the first gross CDC73 germline deletion in an HPT-JT syndrome family.

scientific article

Detection of trisomy 8 using conventional cytogenetic techniques and interphase FISH analysis in 34 myeloid disorders: A comparative study

scientific article published on 01 April 1997

Determination of CYP2D6 gene copy number by multiplex polymerase chain reaction analysis

scientific article published on 20 March 2009

Differential gene expression of medullary thyroid carcinoma reveals specific markers associated with genetic conditions

scientific article

ERCC4Associated with Breast Cancer Risk: A Two-Stage Case-Control Study Using High-throughput Genotyping

Epigenetic Mutation of the Succinate Dehydrogenase C Promoter in a Patient With Two Paragangliomas

scientific article published on 11 December 2015

Epigenetic analysis of HIC1, CASP8, FLIP, TSP1, DCR1, DCR2, DR4, DR5, KvDMR1, H19 and preferential 11p15.5 maternal-allele loss in von Hippel-Lindau and sporadic phaeochromocytomas

scientific article published on 01 March 2005

Evaluating HapMap SNP data transferability in a large-scale genotyping project involving 175 cancer-associated genes

scientific article published on 2 December 2005

Evaluation of a functional epigenetic approach to identify promoter region methylation in phaeochromocytoma and neuroblastoma

scientific article

Exceptional Response to Temsirolimus in a Metastatic Clear Cell Renal Cell Carcinoma With an Early Novel MTOR-Activating Mutation

scientific article published in November 2017

Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma

scientific article (publication date: 19 June 2011)

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

scientific article published on 18 July 2007

Expression of Contactin 4 Is Associated With Malignant Behavior in Pheochromocytomas and Paragangliomas

scientific article published on 17 August 2017

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

scientific article

Feocromocitoma y paraganglioma hereditario: la enfermedad de las 10 caras

scientific article published on 22 February 2013

Frequent allelic losses of 9p21 markers and low incidence of mutations at p16(CDKN2) gene in non-Hodgkin lymphomas of B-cell lineage

article

Frequent retinoic acid receptor alpha (Rar-α) gene rearrangements and no point mutations of N-Ras gene in fifteen cases of acute promyelocytic leukemia

article

Functional and in silico assessment of MAX variants of unknown significance

scientific article

Functional characterization of a rare germline mutation in the gene encoding the cyclin-dependent kinase inhibitor p27Kip1 (CDKN1B) in a Spanish patient with multiple endocrine neoplasia-like phenotype.

scientific article

G12S and H50R variations are polymorphisms in the SDHD gene

scientific article published in June 2003

Gain-of-function mutations in DNMT3A in patients with paraganglioma

scientific article published on 08 May 2018

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

scientific article published in July 1999

Genetic and epigenetic profile of sporadic pheochromocytomas

scientific article

Genetic characterization and structural analysis of VHL Spanish families to define genotype-phenotype correlations

scientific article published in February 2004

Genetics of pheochromocytoma and paraganglioma in Spanish patients.

scientific article

Genetics of pheochromocytoma and paraganglioma in Spanish pediatric patients

scientific article published on 30 May 2013

Genome-wide association study identifies ephrin type A receptors implicated in paclitaxel induced peripheral sensory neuropathy

scientific journal article

Germline ESR2 mutation predisposes to medullary thyroid carcinoma and causes up-regulation of RET expression

scientific article published on 3 March 2016

Germline Homozygous Mutations at Codon 804 in theRETProtooncogene in Medullary Thyroid Carcinoma/Multiple Endocrine Neoplasia Type 2A Patients

scientific article published on 01 March 2005

Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1.

scientific article published on 10 April 2007

Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas

scientific article published on 13 December 2013

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

scientific article published in March 2006

H-RAS mutations are restricted to sporadic pheochromocytomas lacking specific clinical or pathological features: data from a multi-institutional series.

scientific article

Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2

scientific article published on 31 March 2009

Hematologic β-tubulin VI isoform exhibits genetic variability that influences paclitaxel toxicity.

scientific article

High frequency and founder effect of the CYP3A4*20 loss-of-function allele in the Spanish population classifies CYP3A4 as a polymorphic enzyme

Homozygous TMEM127-mutations in two patients with bilateral pheochromocytomas.

scientific article

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

article

Hypermethylation of a 5′ CpG island of p16 is a frequent event in non-Hodgkin’s lymphoma

article

Hypermethylation of p15/ink4b/MTS2 gene is differentially implicated among non-Hodgkin's lymphomas

scientific article published in June 1998

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 SDHD mutations in patients with phaeochromocytoma and/or paraganglioma.

scientific article

Immunophenotypic and Gene Rearrangement Analysis in Null- or T-Cell Neoplasias: Study of 16 Cases

article

Increased Global DNA Hypomethylation in Distant Metastatic and Dedifferentiated Thyroid Cancer

scientific article published on 20 November 2017

Influence of RET mutations on the expression of tyrosine kinases in medullary thyroid carcinoma

scientific article published on 12 July 2013

Integrative analysis of miRNA and mRNA expression profiles in pheochromocytoma and paraganglioma identifies genotype-specific markers and potentially regulated pathways

scientific article published on 24 June 2013

Krebs cycle metabolite profiling for identification and stratification of pheochromocytomas/paragangliomas due to succinate dehydrogenase deficiency

scientific article

Lack of utility of SDHB mutation testing in adrenergic metastatic phaeochromocytoma

scientific article published on 01 February 2015

Loss of the actin regulator HSPC300 results in clear cell renal cell carcinoma protection in Von Hippel-Lindau patients

scientific article published on June 2007

MAX Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma

scientific article published on 27 March 2012

MAX and MYC: a heritable breakup

scientific article

Malignant degeneration of presacral teratoma in the Currarino anomaly

scientific article published on 01 July 2004

Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma

scientific article published on 27 July 2018

MicroRNA deep-sequencing reveals master regulators of follicular and papillary thyroid tumors.

scientific article published on 27 February 2015

Missed clinical clues in patients with pheochromocytoma/paraganglioma discovered by imaging

scientific article published on 01 September 2018

Molecular analysis of the BRCA1 and BRCA2 genes in 32 breast and/or ovarian cancer Spanish families

scientific article

Molecular analysis of the six most recurrent mutations in the BRCA1 gene in 87 Spanish breast/ovarian cancer families

article

Molecular characterisation of a common SDHB deletion in paraganglioma patients.

scientific article published on 5 December 2007

Molecular diagnosis of pituitary adenoma predisposition caused by aryl hydrocarbon receptor-interacting protein gene mutations

scholarly article

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

scientific article

Multifocal intrafollicular granulosa cell tumor of the ovary associated with an unusual germline p53 mutation

scientific article published in July 2004

Multilayer OMIC Data in Medullary Thyroid Carcinoma Identifies the STAT3 Pathway as a Potential Therapeutic Target in RETM918T Tumors.

scientific article

Multiple hereditary infundibulocystic basal cell carcinomas: a genodermatosis different from nevoid basal cell carcinoma syndrome.

scientific article

Mutation analysis of the BRCA2 gene in breast/ovarian cancer Spanish families: identification of two new mutations

article

Mutational and gross deletion study of the MEN1 gene and correlation with clinical features in Spanish patients

scientific article

N-ras mutations: Incidence and clinical relevance in myelodysplastic syndrome and acute myelogenous leukemia

scientific article published on 01 December 1995

Neurofibromatosis 1, and NotTP53, Seems to Be the Main Target of Chromosome 17 Deletions in De Novo Acute Myeloid Leukemia

scientific article published on 01 March 2007

Next-generation panel sequencing identifies NF1 germline mutations in three patients with pheochromocytoma but no clinical diagnosis of neurofibromatosis type 1.

scientific article

Novel rhodopsin mutation in an autosomal dominant retinitis pigmentosa family: phenotypic variation in both heterozygote and homozygote Val137Met mutant patients

scientific article published on 01 July 1996

Opposing effects of HIF1α and HIF2α on chromaffin cell phenotypic features and tumor cell proliferation: Insights from MYC-associated factor X.

scientific article published on 7 April 2014

Overexpression and activation of EGFR and VEGFR2 in medullary thyroid carcinomas is related to metastasis.

scientific article

Overexpression of the S-phase kinase-associated protein 2 in thyroid cancer

scientific article

PPP1CA contributes to the senescence program induced by oncogenic Ras.

scientific article published on 19 January 2008

Pathogenicity of DNA variants and double mutations in multiple endocrine neoplasia type 2 and von Hippel-Lindau syndrome

scientific article

Pediatric paraganglioma: An early manifestation of an adult disease secondary to germline mutations

scientific article published on 01 November 2006

PheoSeq: A Targeted Next-Generation Sequencing Assay for Pheochromocytoma and Paraganglioma Diagnostics

scientific article published on 25 May 2017

Pituitary adenoma associated with pheochromocytoma/paraganglioma: A new form of multiple endocrine neoplasia

scientific article published on 14 September 2016

Polymorphisms associated with everolimus pharmacokinetics, toxicity and survival in metastatic breast cancer

scientific article published on 20 July 2017

Polymorphisms in RET and Its Coreceptors and Ligands as Genetic Modifiers of Multiple Endocrine Neoplasia Type 2A

scientific article published on 01 January 2006

Polymorphisms in cytochromes P450 2C8 and 3A5 are associated with paclitaxel neurotoxicity

scientific article published on 9 March 2010

Prevalence of BRCA1 and BRCA2 Jewish mutations in Spanish breast cancer patients.

scientific article published on March 1999

Profiling of somatic mutations in phaeochromocytoma and paraganglioma by targeted next generation sequencing analysis.

scientific article

Prospective study assessing hypoxia-related proteins as markers for the outcome of treatment with sunitinib in advanced clear-cell renal cell carcinoma.

scientific article published on 20 June 2013

PupaSNP Finder: a web tool for finding SNPs with putative effect at transcriptional level.

scientific article published on July 2004

Rationalization of genetic testing in patients with apparently sporadic pheochromocytoma/paraganglioma.

scientific article

Rearrangement of one RAR-alpha gene in an acute promyelocytic leukemia case with t(15;17) and t(6;17) involving chromosomes 17 band q21.

scientific article

Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients.

scientific article published on 12 August 2015

Regulatory polymorphisms in β-tubulin IIa are associated with paclitaxel-induced peripheral neuropathy.

scientific article published on 20 June 2012

Research resource: Transcriptional profiling reveals different pseudohypoxic signatures in SDHB and VHL-related pheochromocytomas

scientific article

Role of MDH2 pathogenic variant in pheochromocytoma and paraganglioma patients

scientific article published on 16 July 2018

SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma

scientific article

SDHB mutation analysis in familial and sporadic phaeochromocytoma identifies a novel mutation.

scientific article

SDHB/SDHA immunohistochemistry in pheochromocytomas and paragangliomas: a multicenter interobserver variation analysis using virtual microscopy: a Multinational Study of the European Network for the Study of Adrenal Tumors (ENS@T).

scientific article published on 27 February 2015

SDHC mutation in an elderly patient without familial antecedents.

scientific article

SIRT1 promotes thyroid carcinogenesis driven by PTEN deficiency.

scientific article

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

scientific article published on 6 April 2012

Simultaneous KIT mutation and succinate dehydrogenase (SDH) deficiency in a patient with a gastrointestinal stromal tumour and Carney-Stratakis syndrome: a case report.

scientific article published in November 2014

Single nucleotide polymorphism associations with response and toxic effects in patients with advanced renal-cell carcinoma treated with first-line sunitinib: a multicentre, observational, prospective study

article

Somatic RET mutation in a patient with pigmented adrenal pheochromocytoma

scientific article published on 18 January 2016

Somatic stability in chorionic villi samples and other Huntington fetal tissues

scientific article

Sonographic, Cytogenetic and DNA Analysis in Four 69,XXX Fetuses Diagnosed in the Second Trimester

scientific article published on 01 March 2000

Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas

scientific article published in December 2010

Sprouty1 is a candidate tumor-suppressor gene in medullary thyroid carcinoma

scientific article

Succinate dehydrogenase D variants do not constitute a risk factor for developing C cell hyperplasia or sporadic medullary thyroid carcinoma

scientific article published on 28 December 2004

Systematic comparison of sporadic and syndromic pancreatic islet cell tumors

scientific article published on 5 October 2010

Targeted Exome Sequencing of Krebs Cycle Genes Reveals Candidate Cancer-Predisposing Mutations in Pheochromocytomas and Paragangliomas.

scientific article published on 18 July 2017

Targeted Sequencing Reveals Low-Frequency Variants in EPHA Genes as Markers of Paclitaxel-Induced Peripheral Neuropathy.

scientific article published on 31 August 2016

The 12 base pair duplication/insertion alteration could be a regulatory mutation ⬇️

scientific article published on July 1, 1997

The Molecular Registry of Pituitary Adenomas (REMAH): A bet of Spanish Endocrinology for the future of individualized medicine and translational research.

scientific article published on 15 April 2016

The RET IVS1-126G>T variant is strongly associated with the development of sporadic medullary thyroid cancer

scientific article

The mTORC1 Complex Is Significantly Overactivated in SDHX-Mutated Paragangliomas

scientific article published on 26 January 2017

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

The variant rs1867277 in FOXE1 gene confers thyroid cancer susceptibility through the recruitment of USF1/USF2 transcription factors

scientific article published on 4 September 2009

Thyroid cancer GWAS identifies 10q26.12 and 6q14.1 as novel susceptibility loci and reveals genetic heterogeneity among populations

scientific article published on 22 April 2015

Thyroid paraganglioma. Report of 3 cases and description of an immunohistochemical profile useful in the differential diagnosis with medullary thyroid carcinoma, based on complementary DNA array results

scholarly article

Tumoral EPAS1 (HIF2A) mutations explain sporadic pheochromocytoma and paraganglioma in the absence of erythrocytosis

scientific article published on 14 February 2013

Tumoral and tissue-specific expression of the major human beta-tubulin isotypes

scientific article

Usefulness of Negative and Weak–Diffuse Pattern of SDHB Immunostaining in Assessment of SDH Mutations in Paragangliomas and Pheochromocytomas

scientific article published on 01 December 2013

VEGF, VEGFR3, and PDGFRB protein expression is influenced by RAS mutations in medullary thyroid carcinoma.

scientific article

Whole-exome sequencing identifies MDH2 as a new familial paraganglioma gene.

scientific article

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