about
Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1 microdeletionsEvidence by expression analysis of candidate genes for congenital heart defects in the NF1 microdeletion intervalHigh frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 geneConnective tissue dysplasia in five new patients with NF1 microdeletions: further expansion of phenotype and review of the literatureEliminating barriers to personalized medicine: learning from neurofibromatosis type 1A RASopathy gene commonly mutated in cancer: the neurofibromatosis type 1 tumour suppressorEpigenetic mechanisms drive the progression of neurofibromas to malignant peripheral nerve sheath tumorsNeurofibromatosis: chronological history and current issues.Malignant peripheral nerve sheath tumours in inherited diseaseHereditary genodermatoses with cancer predispositionDeletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplificationMalignant Peripheral Nerve Sheath Tumors State of the Science: Leveraging Clinical and Biological Insights into Effective Therapies.The NF1 somatic mutational landscape in sporadic human cancers.Trp53 haploinsufficiency modifies EGFR-driven peripheral nerve sheath tumorigenesis.Neoplasms associated with germline and somatic NF1 gene mutationsPositive regulation of apoptosis by HCA66, a new Apaf-1 interacting protein, and its putative role in the physiopathology of NF1 microdeletion syndrome patients.Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation.Delineation of the clinical phenotype associated with non-mosaic type-2 NF1 deletions: two case reports.Recent developments in brain tumor predisposing syndromes.Chromosomal phenotypes and submicroscopic abnormalitiesElucidating the impact of neurofibromatosis-1 germline mutations on neurofibromin function and dopamine-based learning.Pigment cell-related manifestations in neurofibromatosis type 1: an overview.Fatty acid synthase is a metabolic oncogene targetable in malignant peripheral nerve sheath tumors.Guidelines for the diagnosis and management of individuals with neurofibromatosis 1Identification of novel deletion breakpoints bordered by segmental duplications in the NF1 locus using high resolution array-CGH.Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only.Assessment of benign tumor burden by whole-body MRI in patients with neurofibromatosis 1.NF1 germline mutation differentially dictates optic glioma formation and growth in neurofibromatosis-1.High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype CorrelationDetection and characterization of NF1 microdeletions by custom high resolution array CGH.Challenges in Drug Discovery for Neurofibromatosis Type 1-Associated Low-Grade GliomaMalignant peripheral nerve sheath tumour (MPNST): the clinical implications of cellular signalling pathways.CK2 blockade causes MPNST cell apoptosis and promotes degradation of β-cateninEmerging genotype-phenotype relationships in patients with large NF1 deletions.Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis.Neurogenic tumors of soft tissue.Syndrome-associated soft tissue tumours.Caspase-9 as a therapeutic target for treating cancer.Approach to the Diagnosis of Overgrowth Syndromes.
P2860
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P2860
description
2003 nî lūn-bûn
@nan
2003 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի մարտին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Elevated risk for MPNST in NF1 microdeletion patients.
@ast
Elevated risk for MPNST in NF1 microdeletion patients.
@en
type
label
Elevated risk for MPNST in NF1 microdeletion patients.
@ast
Elevated risk for MPNST in NF1 microdeletion patients.
@en
prefLabel
Elevated risk for MPNST in NF1 microdeletion patients.
@ast
Elevated risk for MPNST in NF1 microdeletion patients.
@en
P2093
P2860
P356
P1476
Elevated risk for MPNST in NF1 microdeletion patients.
@en
P2093
De Raedt T
Wolkenstein P
P2860
P304
P356
10.1086/374821
P407
P577
2003-03-26T00:00:00Z