about
RAS-MAPK pathway epigenetic activation in cancer: miRNAs in actionNF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype.MicroRNAome profiling in benign and malignant neurofibromatosis type 1-associated nerve sheath tumors: evidences of PTEN pathway alterations in early NF1 tumorigenesisSPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype.Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?First description of ABCB4 gene deletions in familial low phospholipid-associated cholelithiasis and oral contraceptives-induced cholestasis.Chaperoning 5S RNA assembly.Impaired PRC2 activity promotes transcriptional instability and favors breast tumorigenesisCardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1.Detection and characterization of NF1 microdeletions by custom high resolution array CGH.ANRIL, a long, noncoding RNA, is an unexpected major hotspot in GWAS.RAS MAPK inhibitors deregulation in leukemiaDual mTORC1/2 inhibition induces anti-proliferative effect in NF1-associated plexiform neurofibroma and malignant peripheral nerve sheath tumor cells.Confirmation of mutation landscape of NF1-associated malignant peripheral nerve sheath tumors.The activation of the WNT signaling pathway is a Hallmark in neurofibromatosis type 1 tumorigenesis.Identification of genes potentially involved in the increased risk of malignancy in NF1-microdeleted patients.Expression of ANRIL-Polycomb Complexes-CDKN2A/B/ARF Genes in Breast Tumors: Identification of a Two-Gene (EZH2/CBX7) Signature with Independent Prognostic Value.Unraveling the intrafamilial correlations and heritability of tumor types in MEN1: a Groupe d'étude des Tumeurs Endocrines study.NF1 single and multi-exons copy number variations in neurofibromatosis type 1.Copy number variants and rasopathies: germline KRAS duplication in a patient with syndrome including pigmentation abnormalities.Calling Chromosome Alterations, DNA Methylation Statuses, and Mutations in Tumors by Simple Targeted Next-Generation Sequencing: A Solution for Transferring Integrated Pangenomic Studies into Routine Practice?Neurofibromatosis Type 1 Molecular Diagnosis: The RNA Point of View.PRC2 loss amplifies Ras-driven transcription and confers sensitivity to BRD4-based therapies.Identification by FFPE RNA-Seq of a new recurrent inversion leading to RBM10-TFE3 fusion in renal cell carcinoma with subtle TFE3 break-apart FISH pattern.NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience.Characterization of a 7.6-Mb germline deletion encompassing the NF1 locus and about a hundred genes in an NF1 contiguous gene syndrome patient.A natural variant with a point mutation resulting in a homozygous Arg to His substitution at position 388 in prothrombin.Detection and monitoring of circulating tumor DNA in adrenocortical carcinoma.SPRED1, a RAS MAPK pathway inhibitor that causes Legius syndrome, is a tumour suppressor downregulated in paediatric acute myeloblastic leukaemia.Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis.Involvement of Aryl hydrocarbon receptor in myelination and in human nerve sheath tumorigenesis.Unraveling the genetic predisposition of ribavirin-induced anaemia.Mutations in SETD2 cause a novel overgrowth condition.Neurofibromatosis type 2 French cohort analysis using a comprehensive NF2 molecular diagnostic strategy.SETD2 and DNMT3A screen in the Sotos-like syndrome French cohort.Different sized somatic NF1 locus rearrangements in neurofibromatosis 1-associated malignant peripheral nerve sheath tumors.2016 Children's Tumor Foundation conference on neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis.Immunohistochemistry versus next-generation sequencing for the routine detection of BRAF V600E mutation in melanomas.Role of noncoding RNA ANRIL in genesis of plexiform neurofibromas in neurofibromatosis type 1.
P50
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P50
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Eric Pasmant
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Eric Pasmant
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Eric Pasmant
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Eric Pasmant
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Eric Pasmant
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Eric Pasmant
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Eric Pasmant
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Eric Pasmant
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P1053
O-7249-2017
P106
P21
P214
P31
P3829
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viaf-213206409