Somatic mosaicism in neurofibromatosis 2: prevalence and risk of disease transmission to offspring.
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Neurofibromatosis type 2 (NF2): a clinical and molecular reviewNeurofibromatosis type 2.A Systematic Assessment of Accuracy in Detecting Somatic Mosaic Variants by Deep Amplicon Sequencing: Application to NF2 Gene.NF2/merlin in hereditary neurofibromatosis 2 versus cancer: biologic mechanisms and clinical associations.Genetic predisposition to peripheral nerve neoplasia: diagnostic criteria and pathogenesis of neurofibromatoses, Carney complex, and related syndromesHereditary 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.Age related shift in the mutation spectra of germline and somatic NF2 mutations: hypothetical role of DNA repair mechanisms.Multiple meningiomas: differential involvement of the NF2 gene in children and adults.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.Recent developments in brain tumor predisposing syndromes.A case of multiple cutaneous schwannomas; schwannomatosis or neurofibromatosis type 2?Management of the patient and family with neurofibromatosis 2: a consensus conference statement.Inherited cancer susceptibility syndromes in paediatric practice.Neurofibromatosis 2 [Bilateral acoustic neurofibromatosis, central neurofibromatosis, NF2, neurofibromatosis type II].The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis.Complex single gene disorders and epilepsy.Schwannomas and their pathogenesis.Clinical and molecular predictors of mortality in neurofibromatosis 2: a UK national analysis of 1192 patients.Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases.Determination of the mutant allele frequency in patients with neurofibromatosis type 2 and somatic mosaicism by means of deep sequencing.Genotype-phenotype correlations for nervous system tumors in neurofibromatosis 2: a population-based study.Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis.Mosaic partial deletion of the PTEN gene in a patient with Cowden syndrome.Cranial irradiation in childhood mimicking neurofibromatosis type II.Multiple meningiomas in patients with Turner syndrome.Large deletions and uniparental disomy detected by SNP arrays in adults with thoracic aortic aneurysms and dissections.Frequency of SMARCB1 mutations in familial and sporadic schwannomatosisEmpirical development of improved diagnostic criteria for neurofibromatosis 2
P2860
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P2860
Somatic mosaicism in neurofibromatosis 2: prevalence and risk of disease transmission to offspring.
description
2003 nî lūn-bûn
@nan
2003年の論文
@ja
2003年学术文章
@wuu
2003年学术文章
@zh
2003年学术文章
@zh-cn
2003年学术文章
@zh-hans
2003年学术文章
@zh-my
2003年学术文章
@zh-sg
2003年學術文章
@yue
2003年學術文章
@zh-hant
name
Somatic mosaicism in neurofibr ...... ase transmission to offspring.
@en
Somatic mosaicism in neurofibr ...... ase transmission to offspring.
@nl
type
label
Somatic mosaicism in neurofibr ...... ase transmission to offspring.
@en
Somatic mosaicism in neurofibr ...... ase transmission to offspring.
@nl
prefLabel
Somatic mosaicism in neurofibr ...... ase transmission to offspring.
@en
Somatic mosaicism in neurofibr ...... ase transmission to offspring.
@nl
P2093
P356
P1476
Somatic mosaicism in neurofibr ...... ase transmission to offspring.
@en
P2093
Moyhuddin A
Ramsden RT
Wallace AJ
P304
P356
10.1136/JMG.40.6.459
P407
P50
P577
2003-06-01T00:00:00Z