Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma - Test2 - elhamkhani - TriplyDB

Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma

Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma

http://www.wikidata.org/entity/Q57817505

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Pheochromocytomas and Paragangliomas: Clinical and Genetic Approaches High-throughput screening for the identification of new therapeutic options for metastatic pheochromocytoma and paraganglioma Rare germline mutations identified by targeted next-generation sequencing of susceptibility genes in pheochromocytoma and paraganglioma.Current views on cell metabolism in SDHx-related pheochromocytoma and paraganglioma Anti-cancer potential of MAPK pathway inhibition in paragangliomas-effect of different statins on mouse pheochromocytoma cells.Molecular markers of paragangliomas/pheochromocytomas The NF1 somatic mutational landscape in sporadic human cancers.The NF1 gene revisited - from bench to bedside.Pheochromocytoma and paraganglioma: diagnosis, genetics, management, and treatment Whole-exome sequencing defines the mutational landscape of pheochromocytoma and identifies KMT2D as a recurrently mutated gene Comprehensive Molecular Characterization of Pheochromocytoma and Paraganglioma.Whole-exome sequencing identifies somatic ATRX mutations in pheochromocytomas and paragangliomas.Multi-omics analysis defines core genomic alterations in pheochromocytomas and paragangliomas.Double NF1 inactivation affects adrenocortical function in NF1Prx1 mice and a human patient Profiling of somatic mutations in phaeochromocytoma and paraganglioma by targeted next generation sequencing analysis.Bioinformatic Challenges in Clinical Diagnostic Application of Targeted Next Generation Sequencing: Experience from Pheochromocytoma Somatic loss of function mutations in neurofibromin 1 and MYC associated factor X genes identified by exome-wide sequencing in a wild-type GIST case.Genotype-specific abnormalities in mitochondrial function associate with distinct profiles of energy metabolism and catecholamine content in pheochromocytoma and paraganglioma.Integrative genetic characterization and phenotype correlations in pheochromocytoma and paraganglioma tumours.Global DNA Methylation Analysis Identifies Two Discrete clusters of Pheochromocytoma with Distinct Genomic and Genetic Alterations.Current and future treatments for malignant pheochromocytoma and sympathetic paraganglioma.Paraganglioma and phaeochromocytoma: from genetics to personalized medicine.Rethinking pheochromocytomas and paragangliomas from a genomic perspective.PheoSeq: A Targeted Next-Generation Sequencing Assay for Pheochromocytoma and Paraganglioma Diagnostics.Update on Adrenal Tumours in 2017 World Health Organization (WHO) of Endocrine Tumours.Consensus Statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas.Next-generation sequencing in the clinical genetic screening of patients with pheochromocytoma and paraganglioma.The genomic landscape of phaeochromocytoma.The VHL gene is epigenetically inactivated in pheochromocytomas and abdominal paragangliomas.Immunohistochemical NF1 analysis does not predict NF1 gene mutation status in pheochromocytoma.ARHI is a novel epigenetic silenced tumor suppressor in sporadic pheochromocytoma.When should genetic testing be performed in patients with neuroendocrine tumours?Activating FGFR1 Mutations in Sporadic Pheochromocytomas.Genetic mechanisms of human hypertension and their implications for blood pressure physiology.The adrenal medulla and extra-adrenal paraganglia: then and now.Metabologenomics of Phaeochromocytoma and Paraganglioma: An Integrated Approach for Personalised Biochemical and Genetic Testing.Exome analysis of carotid body tumor.Treatment for Patients With Malignant Pheochromocytomas and Paragangliomas: A Perspective From the Hallmarks of Cancer.Treatment for Malignant Pheochromocytomas and Paragangliomas: 5 Years of Progress.Hypoxia Signaling and Circadian Disruption in and by Pheochromocytoma

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Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma

http://www.wikidata.org/entity/Q57817505

description

article

@en

im September 2012 veröffentlichter wissenschaftlicher Artikel

@de

wetenschappelijk artikel

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наукова стаття, опублікована у вересні 2012

@uk

name

Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma

@en

Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma

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type

label

Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma

@en

Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma

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prefLabel

Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma

@en

Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma

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P1433

Human Molecular Genetics

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Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma

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Alexandre Buffet

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Béatrice Parfait

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Céline Loriot

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Dominique Vidaud

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Ingrid Laurendeau

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Laurence Valeyrie-Allanore

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Nasséra Abermil

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Nelly Burnichon

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P2860

Germline mutations in TMEM127 confer susceptibility to pheochromocytoma

SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma

Somatic mutations affect key pathways in lung adenocarcinoma

An integrated genomic analysis of human glioblastoma multiforme

Comprehensive genomic characterization defines human glioblastoma genes and core pathways

Gene Expression Omnibus: NCBI gene expression and hybridization array data repository

Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources

Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma

The neurofibromatosis type 1 gene encodes a protein related to GAP

Germline and somatic NF1 mutations in sporadic and NF1-associated malignant peripheral nerve sheath tumours

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5397-5405

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scholarly article

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10.1093/HMG/DDS374

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26

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21

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Jérome Bertherat

Anne-Paule Gimenez-Roqueplo

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2012-09-06T00:00:00Z

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22962301

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phaeochromocytoma