Lista de obras - Alberto Cascón - Dominio Público Uruguay

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

artículo científico publicado en 2002

ATRX driver mutation in a composite malignant pheochromocytoma

artículo científico publicado en 2016

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

artículo científico publicado en 2005

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

artículo científico publicado en 2018

Are we overestimating the penetrance of mutations in SDHB?

artículo científico publicado en 2010

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

article

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

artículo científico publicado en 2018

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

scientific journal article

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

artículo científico publicado en 2009

Concomitant Medications and Risk of Chemotherapy-Induced Peripheral Neuropathy

scientific article published on 23 November 2018

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2011

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

artículo científico publicado en 2009

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

artículo científico publicado en 2012

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

artículo científico publicado en 2005

Evidence of MEN-2 in the original description of classic pheochromocytoma.

artículo científico publicado en 2007

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

artículo científico publicado en 2017

Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma

artículo científico publicado en 2011

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

artículo científico publicado en 2004

Extra-adrenal and adrenal pheochromocytomas associated with a germline SDHC mutation

artículo científico publicado en 2008

Feocromocitoma y paraganglioma hereditario: la enfermedad de las 10 caras

scientific article published on 22 February 2013

From transcriptional profiling to tumor biology in pheochromocytoma and paraganglioma

artículo científico publicado en 2012

Functional and in silico assessment of MAX variants of unknown significance

artículo científico publicado en 2015

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

artículo científico publicado en 2018

Genetic and epigenetic profile of sporadic pheochromocytomas

artículo científico publicado en 2004

Genetics of pheochromocytoma and paraganglioma in Spanish patients.

artículo científico publicado en 2009

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

artículo científico publicado en 2007

Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas

artículo científico publicado en 2013

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

artículo científico publicado en 2006

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

artículo científico publicado en 2012

Hsa-miR-139-5p is a prognostic thyroid cancer marker involved in HNRNPF-mediated alternative splicing

artículo científico publicado en 2019

Identification of novel SDHD mutations in patients with phaeochromocytoma and/or paraganglioma.

artículo científico publicado en 2002

Immunohistochemical classification of non-BRCA1/2 tumors identifies different groups that demonstrate the heterogeneity of BRCAX families

artículo científico publicado en 2007

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

artículo científico publicado en 2013

Integrative multi-omics analysis identifies a prognostic miRNA signature and a targetable miR-21-3p/TSC2/mTOR axis in metastatic pheochromocytoma/paraganglioma

artículo científico publicado en 2019

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

artículo científico publicado en 2007

MAX Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma

scientific article published on 27 March 2012

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

Molecular characterisation of a common SDHB deletion in paraganglioma patients.

artículo científico publicado en 2007

Novel DNMT3A Germline Variant in a Patient with Multiple Paragangliomas and Papillary Thyroid Carcinoma

artículo científico publicado en 2020

Novel pheochromocytoma susceptibility loci identified by integrative genomics

scientific article published on 01 November 2005

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

artículo científico publicado en 2010

PPP1CA contributes to the senescence program induced by oncogenic Ras.

artículo científico publicado en 2008

PTEN expression and mutations in TSC1, TSC2 and MTOR are associated with response to rapalogs in patients with renal cell carcinoma

artículo científico publicado en 2019

Pathological and Genetic Characterization of Bilateral Adrenomedullary Hyperplasia in a Patient with Germline MAX Mutation.

artículo científico publicado en 2016

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

artículo científico publicado en 2006

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

artículo científico publicado en 2017

Pheochromocytomas and Paragangliomas: Bypassing Cellular Respiration.

artículo científico publicado en 2019

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

artículo científico publicado en 2009

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

artículo científico publicado en 2015

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

artículo científico publicado en 2012

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

artículo científico publicado en 2010

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

artículo científico publicado en 2010

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

artículo científico publicado en 2002

SDHC mutation in an elderly patient without familial antecedents.

artículo científico publicado en 2008

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

artículo científico publicado en 2010

Systematic comparison of sporadic and syndromic pancreatic islet cell tumors

artículo científico publicado en 2010

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

Lista de obras de Alberto Cascón

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

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

ATRX driver mutation in a composite malignant pheochromocytoma

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

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

Are we overestimating the penetrance of mutations in SDHB?

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

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

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

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

Concomitant Medications and Risk of Chemotherapy-Induced Peripheral Neuropathy

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

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

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

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

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

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

Evidence of MEN-2 in the original description of classic pheochromocytoma.

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

Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma

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

Extra-adrenal and adrenal pheochromocytomas associated with a germline SDHC mutation

Feocromocitoma y paraganglioma hereditario: la enfermedad de las 10 caras

From transcriptional profiling to tumor biology in pheochromocytoma and paraganglioma

Functional and in silico assessment of MAX variants of unknown significance

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

Genetic and epigenetic profile of sporadic pheochromocytomas

Genetics of pheochromocytoma and paraganglioma in Spanish patients.

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

Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas

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

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

Hsa-miR-139-5p is a prognostic thyroid cancer marker involved in HNRNPF-mediated alternative splicing

Identification of novel SDHD mutations in patients with phaeochromocytoma and/or paraganglioma.

Immunohistochemical classification of non-BRCA1/2 tumors identifies different groups that demonstrate the heterogeneity of BRCAX families

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

Integrative multi-omics analysis identifies a prognostic miRNA signature and a targetable miR-21-3p/TSC2/mTOR axis in metastatic pheochromocytoma/paraganglioma

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

MAX Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma

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

Molecular characterisation of a common SDHB deletion in paraganglioma patients.

Novel DNMT3A Germline Variant in a Patient with Multiple Paragangliomas and Papillary Thyroid Carcinoma

Novel pheochromocytoma susceptibility loci identified by integrative genomics

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

PPP1CA contributes to the senescence program induced by oncogenic Ras.

PTEN expression and mutations in TSC1, TSC2 and MTOR are associated with response to rapalogs in patients with renal cell carcinoma

Pathological and Genetic Characterization of Bilateral Adrenomedullary Hyperplasia in a Patient with Germline MAX Mutation.

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

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

Pheochromocytomas and Paragangliomas: Bypassing Cellular Respiration.

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

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

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

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

Role of MDH2 pathogenic variant in pheochromocytoma and paraganglioma patients

SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma

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

SDHC mutation in an elderly patient without familial antecedents.

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

Systematic comparison of sporadic and syndromic pancreatic islet cell tumors

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.

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

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

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

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