Publications en collaboration avec des chercheurs de University of Padua (12)

2017

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

    Journal of Molecular Diagnostics, Vol. 19, Núm. 4, pp. 575-588

2015

  1. DNA methylation profiling in pheochromocytoma and paraganglioma reveals diagnostic and prognostic markers

    Clinical Cancer Research, Vol. 21, Núm. 13, pp. 3020-3030

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

    International Journal of Cancer, Vol. 137, Núm. 8, pp. 1870-1878

2013

  1. An Epistatic Interaction between the PAX8 and STK17B Genes in Papillary Thyroid Cancer Susceptibility

    PLoS ONE, Vol. 8, Núm. 9

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

    American Journal of Pathology, Vol. 182, Núm. 2, pp. 350-362

  3. Genetics of population exchange along the historical portuguese-spanish border

    Journal of Biosocial Science, Vol. 45, Núm. 1, pp. 79-93

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

    Endocrine-Related Cancer, Vol. 20, Núm. 4, pp. 477-493

2012

  1. MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma

    Clinical Cancer Research, Vol. 18, Núm. 10, pp. 2828-2837

2011

  1. Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma

    Nature Genetics

2010

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

    Molecular Endocrinology, Vol. 24, Núm. 12, pp. 2382-2391

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

    JAMA - Journal of the American Medical Association, Vol. 304, Núm. 23, pp. 2611-2619

2009

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

    PLoS Genetics, Vol. 5, Núm. 9