Published in Neurogenetics on February 17, 2009
Analysis of steroid hormone effects on xenografted human NF1 tumor schwann cells. Cancer Biol Ther (2010) 2.27
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Mitotic recombination of chromosome arm 17q as a cause of loss of heterozygosity of NF1 in neurofibromatosis type 1-associated glomus tumors. Genes Chromosomes Cancer (2012) 0.86
Back to the future: proceedings from the 2010 NF Conference. Am J Med Genet A (2010) 0.84
Familial spinal neurofibromatosis due to a multiexonic NF1 gene deletion. Neurogenetics (2011) 0.83
Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype-phenotype correlation. Eur J Hum Genet (2012) 0.80
Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis. J Med Genet (2013) 0.78
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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. Am J Hum Genet (2006) 2.23
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Benign neurofibromas in type 1 neurofibromatosis (NF1) show somatic deletions of the NF1 gene. Nat Genet (1995) 1.71
NF1 microdeletion breakpoints are clustered at flanking repetitive sequences. Hum Mol Genet (2000) 1.53
High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene. Am J Hum Genet (2004) 1.47
Induction of abnormal proliferation by nonmyelinating schwann cells triggers neurofibroma formation. Cancer Cell (2008) 1.46
TP53 mutations are frequent in malignant NF1 tumors. Genes Chromosomes Cancer (1994) 1.37
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Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1. Am J Hum Genet (2007) 1.33
Comprehensive NF1 screening on cultured Schwann cells from neurofibromas. Hum Mutat (2006) 1.29
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Germline and somatic NF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs). Hum Mutat (2008) 1.25
An Alu polymorphism intragenic to the TP53 gene. Nucleic Acids Res (1991) 1.15
Characterization of the somatic mutational spectrum of the neurofibromatosis type 1 (NF1) gene in neurofibromatosis patients with benign and malignant tumors. Hum Mutat (2004) 1.13
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Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromas. Nat Genet (2001) 1.00
Somatic loss of wild type NF1 allele in neurofibromas: Comparison of NF1 microdeletion and non-microdeletion patients. Genes Chromosomes Cancer (2006) 0.97
Extensively high load of internal tumors determined by whole body MRI scanning in a patient with neurofibromatosis type 1 and a non-LCR-mediated 2-Mb deletion in 17q11.2. Hum Genet (2005) 0.94
Somatic NF1 mutational spectrum in benign neurofibromas: mRNA splice defects are common among point mutations. Hum Genet (2001) 0.90
Germline and somatic NF1 gene mutations in plexiform neurofibromas. Hum Mutat (2008) 0.89
Toward a survey of somatic mutation of the NF1 gene in benign neurofibromas of patients with neurofibromatosis type 1. Am J Hum Genet (2000) 0.89
Familial spinal neurofibromatosis. Neuropediatrics (2007) 0.87
Somatic alterations of the NF1 gene in an NF1 individual with multiple benign tumours (internal and external) and malignant tumour types. Fam Cancer (2007) 0.86
NF1 mutations and clinical spectrum in patients with spinal neurofibromas. J Med Genet (2003) 0.86
Heterogeneity of breakpoints in non-LCR-mediated large constitutional deletions of the 17q11.2 NF1 tumour suppressor region. J Med Genet (2003) 0.85
A patient severely affected by spinal neurofibromas carries a recurrent splice site mutation in the NF1 gene. Eur J Hum Genet (2002) 0.85
Hereditary spinal neurofibromatosis: a rare form of NF1? J Med Genet (1997) 0.83
A clinical variant of neurofibromatosis type 1: familial spinal neurofibromatosis with a frameshift mutation in the NF1 gene. Am J Hum Genet (1998) 0.83
Functional splicing assay shows a pathogenic intronic mutation in neurofibromatosis type 1 (NF1) due to intronic sequence exonization. Hum Mutat (2006) 0.80
Spinal neurofibromatosis without café-au-lait macules in two families with null mutations of the NF1 gene. Am J Hum Genet (2001) 0.78
Independent NF1 mutations in two large families with spinal neurofibromatosis. J Med Genet (2003) 0.78
The somatic genomic landscape of glioblastoma. Cell (2013) 11.73
Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma. Nature (2012) 10.99
Intercellular transfer of the oncogenic receptor EGFRvIII by microvesicles derived from tumour cells. Nat Cell Biol (2008) 7.30
Radial glia cells are candidate stem cells of ependymoma. Cancer Cell (2005) 5.21
Transforming fusions of FGFR and TACC genes in human glioblastoma. Science (2012) 5.09
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Delineation of two clinically and molecularly distinct subgroups of posterior fossa ependymoma. Cancer Cell (2011) 3.11
Contrasting in vivo and in vitro fates of glioblastoma cell subpopulations with amplified EGFR. Genes Chromosomes Cancer (2004) 3.05
Hexokinase 2 is a key mediator of aerobic glycolysis and promotes tumor growth in human glioblastoma multiforme. J Exp Med (2011) 2.93
Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics. Hum Mutat (2010) 2.67
Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy. Hum Mol Genet (2002) 2.65
Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs. Hum Mutat (2003) 2.55
Prevalence of neurofibromatosis 1 in German children at elementary school enrollment. Arch Dermatol (2005) 2.23
Breakpoints of gross deletions coincide with non-B DNA conformations. Proc Natl Acad Sci U S A (2004) 2.13
Conservation of hotspots for recombination in low-copy repeats associated with the NF1 microdeletion. Nat Genet (2006) 2.11
Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations. Nat Genet (2005) 1.99
Fiber density index correlates with reduced fractional anisotropy in white matter of patients with glioblastoma. AJNR Am J Neuroradiol (2005) 1.90
Large-scale molecular comparison of human schwann cells to malignant peripheral nerve sheath tumor cell lines and tissues. Cancer Res (2006) 1.80
Comparative analysis of genome sequences covering the seven cronobacter species. PLoS One (2012) 1.79
Cancer stem cells are enriched in the side population cells in a mouse model of glioma. Cancer Res (2008) 1.75
Meta-analysis of gross insertions causing human genetic disease: novel mutational mechanisms and the role of replication slippage. Hum Mutat (2005) 1.74
Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms. Hum Mutat (2004) 1.54
Genotype-phenotype correlations in X-linked myotubular myopathy. Neuromuscul Disord (2002) 1.51
Treatment of ADHD in neurofibromatosis type 1. Dev Med Child Neurol (2002) 1.47
Beta-catenin regulates wound size and mediates the effect of TGF-beta in cutaneous healing. FASEB J (2006) 1.47
NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype. Hum Mutat (2010) 1.47
Neuropathology of genetically engineered mice: consensus report and recommendations from an international forum. Oncogene (2002) 1.45
High-grade glioma formation results from postnatal pten loss or mutant epidermal growth factor receptor expression in a transgenic mouse glioma model. Cancer Res (2006) 1.42
Targeting metabolic remodeling in glioblastoma multiforme. Oncotarget (2010) 1.42
Complex gene rearrangements caused by serial replication slippage. Hum Mutat (2005) 1.41
Intrachromosomal serial replication slippage in trans gives rise to diverse genomic rearrangements involving inversions. Hum Mutat (2005) 1.37
Atypical neurofibromas in neurofibromatosis type 1 are premalignant tumors. Genes Chromosomes Cancer (2011) 1.36
Peripheral nerve tumors: management strategies and molecular insights. J Neurooncol (2004) 1.35
High-resolution DNA copy number profiling of malignant peripheral nerve sheath tumors using targeted microarray-based comparative genomic hybridization. Clin Cancer Res (2008) 1.34
Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms. Eur J Hum Genet (2006) 1.33
Establishment and characterization of a schwannoma cell line from a patient with neurofibromatosis 2. Int J Oncol (2002) 1.28
Alkylpurine-DNA-N-glycosylase confers resistance to temozolomide in xenograft models of glioblastoma multiforme and is associated with poor survival in patients. J Clin Invest (2011) 1.27
Proteolytic cleavage of the CD44 adhesion molecule in multiple human tumors. Am J Pathol (2002) 1.26
Spatio-temporal cell cycle phase analysis using level sets and fast marching methods. Med Image Anal (2008) 1.26
Germline and somatic NF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs). Hum Mutat (2008) 1.25
MicroRNA-10b regulates tumorigenesis in neurofibromatosis type 1. Cancer Sci (2010) 1.23
Oligodendrogliomas result from the expression of an activated mutant epidermal growth factor receptor in a RAS transgenic mouse astrocytoma model. Cancer Res (2003) 1.20
Array-based comparative genomic hybridization identifies CDK4 and FOXM1 alterations as independent predictors of survival in malignant peripheral nerve sheath tumor. Clin Cancer Res (2011) 1.20
Extracellular vesicles--vehicles that spread cancer genes. Bioessays (2012) 1.19
Tissue factor regulation by epidermal growth factor receptor and epithelial-to-mesenchymal transitions: effect on tumor initiation and angiogenesis. Cancer Res (2008) 1.19
Histopathology and clinical outcome of NF1-associated vs. sporadic malignant peripheral nerve sheath tumors. J Neurooncol (2006) 1.18
Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis. Hum Genomics (2011) 1.17
Growth dynamics of plexiform neurofibromas: a retrospective cohort study of 201 patients with neurofibromatosis 1. Orphanet J Rare Dis (2012) 1.17
Genetic and phenotypic characterization of tumor cells derived from malignant peripheral nerve sheath tumors of neurofibromatosis type 1 patients. Neurobiol Dis (2004) 1.15
GATA6 is an astrocytoma tumor suppressor gene identified by gene trapping of mouse glioma model. Proc Natl Acad Sci U S A (2007) 1.15
Pathological and molecular progression of astrocytomas in a GFAP:12 V-Ha-Ras mouse astrocytoma model. Am J Pathol (2005) 1.15
A GATA4-regulated tumor suppressor network represses formation of malignant human astrocytomas. J Exp Med (2011) 1.13
Chordoid glioma: ten years of a low-grade tumor with high morbidity. Skull Base (2010) 1.12
Multiinstitutional validation of the University of California at San Francisco Low-Grade Glioma Prognostic Scoring System. Clinical article. J Neurosurg (2009) 1.12
Assessment of benign tumor burden by whole-body MRI in patients with neurofibromatosis 1. Neuro Oncol (2008) 1.12
Three-dimensional in vivo modeling of vestibular schwannomas and surrounding cranial nerves with diffusion imaging tractography. Neurosurgery (2011) 1.10
Breakpoint analysis of the pericentric inversion distinguishing human chromosome 4 from the homologous chromosome in the chimpanzee (Pan troglodytes). Hum Mutat (2005) 1.10
Epidermal growth factor receptor variant III-induced glioma invasion is mediated through myristoylated alanine-rich protein kinase C substrate overexpression. Cancer Res (2009) 1.10
Plexiform neurofibromas in children with neurofibromatosis type 1: frequency and associated clinical deficits. J Pediatr (2011) 1.09
Malignant peripheral nerve sheath tumors (MPNST) in neurofibromatosis type 1 (NF1): diagnostic findings on magnetic resonance images and mutation analysis of the NF1 gene. Anticancer Res (2005) 1.08
Gain-of-glycosylation mutations. Curr Opin Genet Dev (2007) 1.08
Immune infiltration of spontaneous mouse astrocytomas is dominated by immunosuppressive cells from early stages of tumor development. Cancer Res (2010) 1.07
Gene expression profiling reveals unique molecular subtypes of Neurofibromatosis Type I-associated and sporadic malignant peripheral nerve sheath tumors. Brain Pathol (2004) 1.06
Proteomic identification of biomarkers in the cerebrospinal fluid (CSF) of astrocytoma patients. J Proteome Res (2007) 1.06
Orthopaedic manifestations of neurofibromatosis in children: an update. Clin Orthop Relat Res (2002) 1.05
Glioblastoma multiforme after stereotactic radiotherapy for acoustic neuroma: case report and review of the literature. Neuro Oncol (2007) 1.04
Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled? Hum Genet (2011) 1.04
Long homopurine*homopyrimidine sequences are characteristic of genes expressed in brain and the pseudoautosomal region. Nucleic Acids Res (2006) 1.03
Suppression of glioblastoma tumorigenicity by the Kruppel-like transcription factor KLF6. Oncogene (2004) 1.02
Somatic neurofibromatosis type 1 (NF1) inactivation characterizes NF1-associated pilocytic astrocytoma. Genome Res (2012) 1.02
Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations? Hum Genomics (2012) 1.02
A human transferrin-vascular endothelial growth factor (hnTf-VEGF) fusion protein containing an integrated binding site for (111)In for imaging tumor angiogenesis. J Nucl Med (2005) 1.01
Targeting the Tie2/Tek receptor in astrocytomas. Am J Pathol (2004) 1.01
Do hormonal contraceptives stimulate growth of neurofibromas? A survey on 59 NF1 patients. BMC Cancer (2005) 1.01
Glomus tumors in neurofibromatosis type 1: genetic, functional, and clinical evidence of a novel association. Cancer Res (2009) 1.01
A proximity ligation assay using transiently transfected, epitope-tagged proteins: application for in situ detection of dimerized receptor tyrosine kinases. Biotechniques (2010) 1.00
Developmental profile and regulation of the glycolytic enzyme hexokinase 2 in normal brain and glioblastoma multiforme. Neurobiol Dis (2011) 0.99
Independent intrachromosomal recombination events underlie the pericentric inversions of chimpanzee and gorilla chromosomes homologous to human chromosome 16. Genome Res (2005) 0.98
Vestibular schwannoma growth in patients with neurofibromatosis Type 2: a longitudinal study. J Neurosurg (2002) 0.98
Molecular evolution of a neurofibroma to malignant peripheral nerve sheath tumor (MPNST) in an NF1 patient: correlation between histopathological, clinical and molecular findings. J Cancer Res Clin Oncol (2010) 0.96
High-resolution longitudinal screening with magnetic resonance imaging in a murine brain cancer model. Neoplasia (2004) 0.96
Analysis of IDH mutation, 1p/19q deletion, and PTEN loss delineates prognosis in clinical low-grade diffuse gliomas. Neuro Oncol (2014) 0.96
Mouse models to interrogate the implications of the differentiation status in the ontogeny of gliomas. Oncotarget (2011) 0.95
Screening for large mutations of the NF2 gene. Genes Chromosomes Cancer (2005) 0.95
In Silico identification of pathogenic strains of Cronobacter from Biochemical data reveals association of inositol fermentation with pathogenicity. BMC Microbiol (2011) 0.95
Surgical management of cervical spine manifestations of neurofibromatosis Type 1: long-term clinical and radiological follow-up in 22 cases. J Neurosurg Spine (2011) 0.94
Type 2 NF1 deletions are highly unusual by virtue of the absence of nonallelic homologous recombination hotspots and an apparent preference for female mitotic recombination. Am J Hum Genet (2007) 0.94
Human schwannomas express activated platelet-derived growth factor receptors and c-kit and are growth inhibited by Gleevec (Imatinib Mesylate). Cancer Res (2009) 0.94
Malignant peripheral nerve sheath tumors. Neurosurg Clin N Am (2004) 0.94
Extensively high load of internal tumors determined by whole body MRI scanning in a patient with neurofibromatosis type 1 and a non-LCR-mediated 2-Mb deletion in 17q11.2. Hum Genet (2005) 0.94
Artepillin C (ARC) in Brazilian green propolis selectively blocks oncogenic PAK1 signaling and suppresses the growth of NF tumors in mice. Phytother Res (2009) 0.94
Conditional astroglial Rictor overexpression induces malignant glioma in mice. PLoS One (2012) 0.93
The heterogeneous nature of germline mutations in NF1 patients with malignant peripheral serve sheath tumours (MPNSTs). Hum Mutat (2006) 0.92