(Q38089870)

28 August 2017

Neurofibromatosis type 1: diagnosis and recent advances (English)

1 reference

28 August 2017

Meena Upadhyaya

1

1 reference

PubMed ID

23496147

28 August 2017

language of work or name

English

0 references

publication date

1 July 2010

1 reference

Expert Opinion on Medical Diagnostics

28 August 2017

1 reference

28 August 2017

4

1 reference

28 August 2017

4

1 reference

28 August 2017

307-322

1 reference

Guidelines for the diagnosis and management of individuals with neurofibromatosis 1

28 August 2017

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

NF1 plexiform neurofibroma growth rate by volumetric MRI: relationship to age and body weight.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

Malignant peripheral nerve sheath tumours in neurofibromatosis 1

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg?

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

Syndrome of early onset colon cancers, hematologic malignancies & features of neurofibromatosis in HNPCC families with homozygous mismatch repair gene mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

The use of anterolateral bowing of the lower leg in the diagnostic criteria for neurofibromatosis type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

NF1 tumor suppressor gene function: narrowing the GAP

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

The NF1 tumor suppressor critically regulates TSC2 and mTOR.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

Molecular basis of neurofibromatosis type 1 (NF1): mutation analysis and polymorphisms in the NF1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

Molecular diagnosis of neurofibromatosis type 1: 2 years experience

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

Gonosomal mosaicism for a nonsense mutation (R1947X) in the NF1 gene in segmental neurofibromatosis type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

NF1 microduplication first clinical report: association with mild mental retardation, early onset of baldness and dental enamel hypoplasia?

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

NF1 mutations and clinical spectrum in patients with spinal neurofibromas

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - evidence for different genetic origins.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

Nf1 expression is dependent on strain background: implications for tumor suppressor haploinsufficiency studies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

Spred1 is required for synaptic plasticity and hippocampus-dependent learning

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

Clinical and molecular aspects of RAS related disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

Hyperactive Ras in developmental disorders and cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

Mutation and cancer: statistical study of retinoblastoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

Loss of neurofibromatosis 1 (NF1) gene expression in NF1-associated pilocytic astrocytomas.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

Homozygous inactivation of the NF1 gene in bone marrow cells from children with neurofibromatosis type 1 and malignant myeloid disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

Molecular pathogenesis of multiple gastrointestinal stromal tumors in NF1 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

Glomus tumors in neurofibromatosis type 1: genetic, functional, and clinical evidence of a novel association

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

Double inactivation of NF1 in tibial pseudarthrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

Neurofibromas in NF1: Schwann cell origin and role of tumor environment

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

Nf1-dependent tumors require a microenvironment containing Nf1+/-- and c-kit-dependent bone marrow

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

NF1 loss disrupts Schwann cell-axonal interactions: a novel role for semaphorin 4F.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

Cell of origin and microenvironment contribution for NF1-associated dermal neurofibromas

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

The loss of Nf1 transiently promotes self-renewal but not tumorigenesis by neural crest stem cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

High-resolution DNA copy number profiling of malignant peripheral nerve sheath tumors using targeted microarray-based comparative genomic hybridization.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

Recent advances in neurofibromatosis type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

Molecular, genetic, and cellular pathogenesis of neurofibromas and surgical implications

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

PTEN dosage is essential for neurofibroma development and malignant transformation

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

Malignant astrocytomas originate from neural stem/progenitor cells in a somatic tumor suppressor mouse model

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

Pten haploinsufficiency accelerates formation of high-grade astrocytomas

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

Harnessing preclinical mouse models to inform human clinical cancer trials.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

The HMG-CoA reductase inhibitor lovastatin reverses the learning and attention deficits in a mouse model of neurofibromatosis type 1

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

Effect of simvastatin on cognitive functioning in children with neurofibromatosis type 1: a randomized controlled trial

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

Modelling neurofibromatosis type 1 tibial dysplasia and its treatment with lovastatin

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

Skeletal abnormalities in neurofibromatosis type 1: approaches to therapeutic options.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

TORC1 is essential for NF1-associated malignancies

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

Detection and characterization of NF1 microdeletions by custom high resolution array CGH.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

Next-generation DNA sequencing methods

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

DNA sequence capture and enrichment by microarray followed by next-generation sequencing for targeted resequencing: neurofibromatosis type 1 gene as a model

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

An integrated genomic analysis of human glioblastoma multiforme

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

Somatic mutations affect key pathways in lung adenocarcinoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

Neurofibromin 1 (NF1) defects are common in human ovarian serous carcinomas and co-occur with TP53 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

Large-scale molecular comparison of human schwann cells to malignant peripheral nerve sheath tumor cell lines and tissues

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

Identification of a novel amplicon at distal 17q containing the BIRC5/SURVIVIN gene in malignant peripheral nerve sheath tumours.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

Ral overactivation in malignant peripheral nerve sheath tumors

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

DNA copy number changes in high-grade malignant peripheral nerve sheath tumors by array CGH.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

Integrative genomic analyses of neurofibromatosis tumours identify SOX9 as a biomarker and survival gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

Cancer stem cells: models and concepts

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

MicroRNA expression signature of human sarcomas.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

Genome-wide transcriptome analyses reveal p53 inactivation mediated loss of miR-34a expression in malignant peripheral nerve sheath tumours

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

[18F]FDG PET/CT in the diagnosis of malignant peripheral nerve sheath tumours in neurofibromatosis type-1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

Antisense therapeutics for neurofibromatosis type 1 caused by deep intronic mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

Synthetic lethal interaction between oncogenic KRAS dependency and STK33 suppression in human cancer cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

Prevalence of Neurofibromatosis 1 in German Children at Elementary School Enrollment

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

Longitudinal study of neurofibromatosis 1 associated plexiform neurofibromas

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

Schwann cells harbor the somatic NF1 mutation in neurofibromas: evidence of two different Schwann cell subpopulations

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

Germline and somaticNF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs)

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

What's new in neurofibromatosis? Proceedings from the 2009 NF Conference: new frontiers

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

Detection of copy number changes at the NF1 locus with improved high-resolution array CGH

21 January 2018

1 reference

https://api.crossref.org/works/10.1517%2F17530059.2010.494660

10.1517/17530059.2010.494660

21 January 2018

Identifiers

DOI

1 reference

28 August 2017

1 reference

PubMed ID

23496147