Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations
about
Neurofibromatosis type 2 (NF2): a clinical and molecular reviewNeurofibromatosis type 2Childhood neurofibromatosis type 2 (NF2) and related disorders: from bench to bedside and biologically targeted therapies.Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate.Neurofibromatosis type 2.Loss of heterozygosity on long arm of chromosome 22 in sporadic colorectal carcinomaNF2/merlin in hereditary neurofibromatosis 2 versus cancer: biologic mechanisms and clinical associations.Clinicopathologic assay of 15 tumor resections in a family with neurofibromatosis type 2.Molecular mechanisms promoting the pathogenesis of Schwann cell neoplasmsMicrodeletion del(22)(q12.2) encompassing the facial development-associated gene, MN1 (meningioma 1) in a child with Pierre-Robin sequence (including cleft palate) and neurofibromatosis 2 (NF2): a case report and review of the literature.The molecular biology of vestibular schwannomas and its association with hearing loss: a review.Hereditary genodermatoses with cancer predispositionMosaicism in neurofibromatosis type 2: an update of risk based on uni/bilaterality of vestibular schwannoma at presentation and sensitive mutation analysis including multiple ligation-dependent probe amplification.Paediatric presentation of type 2 neurofibromatosis.Identification of recurrent regions of chromosome loss and gain in vestibular schwannomas using comparative genomic hybridisation.Molecular study of frequency of mosaicism in neurofibromatosis 2 patients with bilateral vestibular schwannomas.Schwann cell hyperplasia and tumors in transgenic mice expressing a naturally occurring mutant NF2 proteinLongitudinal evaluation of quality of life in 288 patients with neurofibromatosis 2.Advances in neurofibromatosis 2 (NF2): a workshop report.Functional analysis of the neurofibromatosis type 2 protein by means of disease-causing point mutationsBasal cell carcinomas in gorlin syndrome: a review of 202 patients.Patched homolog 1 gene mutation (p.G1093R) induces nevoid basal cell carcinoma syndrome and non-syndromic keratocystic odontogenic tumors: A case report.The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2.Sensitive detection of deletions of one or more exons in the neurofibromatosis type 2 (NF2) gene by multiplexed gene dosage polymerase chain reaction.Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing.The neurofibromatosis type 2 gene is mutated in perineurial cell tumors: a molecular genetic study of eight cases.Predictors of the risk of mortality in neurofibromatosis 2Outcome from surgery for vestibular schwannomas in children.Neurofibromatosis 2 [Bilateral acoustic neurofibromatosis, central neurofibromatosis, NF2, neurofibromatosis type II].Genetic Severity Score predicts clinical phenotype in NF2.Clinical and molecular predictors of mortality in neurofibromatosis 2: a UK national analysis of 1192 patients.The neurofibromatosis type 2 gene product, merlin, reverses the F-actin cytoskeletal defects in primary human Schwannoma cells.Inhibition of the hyaluronan-CD44 interaction by merlin contributes to the tumor-suppressor activity of merlin.Determination of the mutant allele frequency in patients with neurofibromatosis type 2 and somatic mosaicism by means of deep sequencing.Novel age-dependent targets in vestibular schwannomas.Genotype-phenotype correlations for nervous system tumors in neurofibromatosis 2: a population-based study.Combined retinal hamartomas leading to the diagnosis of neurofibromatosis type 2.Vestibular schwannoma: role of conservative management.Radiosurgical treatment of vestibular schwannomas in patients with neurofibromatosis type 2: tumor control and hearing preservation.Intrafamilial correlation of clinical manifestations in neurofibromatosis 2 (NF2).
P2860
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P2860
Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations
description
1998 nî lūn-bûn
@nan
1998 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Genotype/phenotype correlation ...... ated with truncating mutations
@ast
Genotype/phenotype correlation ...... ated with truncating mutations
@en
type
label
Genotype/phenotype correlation ...... ated with truncating mutations
@ast
Genotype/phenotype correlation ...... ated with truncating mutations
@en
prefLabel
Genotype/phenotype correlation ...... ated with truncating mutations
@ast
Genotype/phenotype correlation ...... ated with truncating mutations
@en
P2093
P2860
P356
P1476
Genotype/phenotype correlation ...... ated with truncating mutations
@en
P2093
P2860
P304
P356
10.1136/JMG.35.6.450
P407
P50
P577
1998-06-01T00:00:00Z