about
Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytomaBrick1 is an essential regulator of actin cytoskeleton required for embryonic development and cell transformationHematologic β-tubulin VI isoform exhibits genetic variability that influences paclitaxel toxicity.Research resource: Transcriptional profiling reveals different pseudohypoxic signatures in SDHB and VHL-related pheochromocytomasSDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma.Whole-exome sequencing identifies MDH2 as a new familial paraganglioma gene.Genetics of pheochromocytoma and paraganglioma in Spanish patients.Rationalization of genetic testing in patients with apparently sporadic pheochromocytoma/paraganglioma.SDHB mutation analysis in familial and sporadic phaeochromocytoma identifies a novel mutation.Genetic and epigenetic profile of sporadic pheochromocytomas.Regulatory polymorphisms in β-tubulin IIa are associated with paclitaxel-induced peripheral neuropathy.Evidence of MEN-2 in the original description of classic pheochromocytoma.From transcriptional profiling to tumor biology in pheochromocytoma and paraganglioma.Differential gene expression of medullary thyroid carcinoma reveals specific markers associated with genetic conditions.PheoSeq: A Targeted Next-Generation Sequencing Assay for Pheochromocytoma and Paraganglioma Diagnostics.Consensus Statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas.Pathological and Genetic Characterization of Bilateral Adrenomedullary Hyperplasia in a Patient with Germline MAX Mutation.ATRX driver mutation in a composite malignant pheochromocytoma.Loss of the actin regulator HSPC300 results in clear cell renal cell carcinoma protection in Von Hippel-Lindau patients.Functional and in silico assessment of MAX variants of unknown significance.DNA Methylation Profiling in Pheochromocytoma and Paraganglioma Reveals Diagnostic and Prognostic Markers.Immunohistochemical classification of non-BRCA1/2 tumors identifies different groups that demonstrate the heterogeneity of BRCAX families.Are we overestimating the penetrance of mutations in SDHB?Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out.Identification of novel SDHD mutations in patients with phaeochromocytoma and/or paraganglioma.Systematic comparison of sporadic and syndromic pancreatic islet cell tumors.About the origin and development of hereditary conventional renal cell carcinoma in a four-generation t(3;8)(p14.1;q24.23) family.SDHC mutation in an elderly patient without familial antecedents.Gross SDHB deletions in patients with paraganglioma detected by multiplex PCR: a possible hot spot?Extra-adrenal and adrenal pheochromocytomas associated with a germline SDHC mutation.Molecular characterisation of a common SDHB deletion in paraganglioma patients.Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas.Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1.Exceptional Response to Temsirolimus in a Metastatic Clear Cell Renal Cell Carcinoma With an Early Novel MTOR-Activating Mutation.Targeted Exome Sequencing of Krebs Cycle Genes Reveals Candidate Cancer-Predisposing Mutations in Pheochromocytomas and Paragangliomas.Targeted Sequencing Reveals Low-Frequency Variants in EPHA Genes as Markers of Paclitaxel-Induced Peripheral Neuropathy.Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients.Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas.Determination of CYP2D6 gene copy number by multiplex polymerase chain reaction analysis.PPP1CA contributes to the senescence program induced by oncogenic Ras.
P50
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P50
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hulumtues
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Alberto Cascón
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Alberto Cascón
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Alberto Cascón
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Alberto Cascón
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Alberto Cascón
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Alberto Cascón
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Alberto Cascón
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Alberto Cascón
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Alberto Cascón
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Alberto Cascon
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Alberto Cascón
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Alberto Cascón
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Alberto Cascón
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Alberto Cascón
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Alberto Cascón
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P1053
G-3160-2014
P106
P1153
6601983995
P21
P31
P3829
P496
0000-0003-2119-891X