Search Results - "MAUTNER, Victor F"
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Pronounced maternal parent-of-origin bias for type-1 NF1 microdeletions
Published in Human genetics (01-05-2018)“…Neurofibromatosis type 1 (NF1) is caused, in 4.7–11% of cases, by large deletions encompassing the NF1 gene and its flanking regions within 17q11.2. Different…”
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Management of neurofibromatosis type 1-associated plexiform neurofibromas
Published in Neuro-oncology (Charlottesville, Va.) (02-11-2022)“…Plexiform Neurofibromas (PN) are a common manifestation of the genetic disorder neurofibromatosis type 1 (NF1). These benign nerve sheath tumors often cause…”
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3
The effect of pregnancy on growth-dynamics of neurofibromas in Neurofibromatosis type 1
Published in PloS one (28-04-2020)“…Patients with Neurofibromatosis type 1 (NF1) develop plexiform neurofibromas (PNF) and cutaneous neurofibromas. These tumors are a major cause of the patient's…”
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Quantitative assessment of whole-body tumor burden in adult patients with neurofibromatosis
Published in PloS one (27-04-2012)“…Patients with neurofibromatosis 1 (NF1), NF2, and schwannomatosis are at risk for multiple nerve sheath tumors and premature mortality. Traditional magnetic…”
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5
Assessment of benign tumor burden by whole-body MRI in patients with neurofibromatosis 1
Published in Neuro-oncology (Charlottesville, Va.) (01-08-2008)“…People with neurofibromatosis 1 (NF1) have multiple benign neurofibromas and a 10% lifetime risk of developing malignant peripheral nerve sheath tumors…”
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6
Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene
Published in Human mutation (01-02-2004)“…A total of 500 unselected unrelated neurofibromatosis 1 (NF1) patients were screened for deletions of the NF1 gene. After excluding 67 patients with known…”
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Nerve Sheath Tumors in Neurofibromatosis Type 1: Assessment of Whole-Body Metabolic Tumor Burden Using F-18-FDG PET/CT
Published in PloS one (01-12-2015)“…To determine the metabolically active whole-body tumor volume (WB-MTV) on F-18-fluorodeoxyglucose positron emission tomography/computed tomography (F-18-FDG…”
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8
Impaired Pten expression in human malignant peripheral nerve sheath tumours
Published in PloS one (06-11-2012)“…Malignant peripheral nerve sheath tumours (MPNST) are aggressive sarcomas that develop in about 10% of patients with the genetic disease neurofibromatosis type…”
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EGFR and erbB2 in malignant peripheral nerve sheath tumors and implications for targeted therapy
Published in Neuro-oncology (Charlottesville, Va.) (01-12-2008)“…Malignant peripheral nerve sheath tumors (MPNSTs) are sarcomas with poor prognosis and limited treatment options. Evidence for a role of epidermal growth…”
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10
Nilotinib is more potent than imatinib for treating plexiform neurofibroma in vitro and in vivo
Published in PloS one (23-10-2014)“…Plexiform neurofibromas (PNFs) are benign nerve sheath tumors mostly associated with neurofibromatosis type 1. They often extend through multiple layers of…”
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Testing ATRA and MEK inhibitor PD0325901 effectiveness in a nude mouse model for human MPNST xenografts
Published in BMC research notes (28-07-2018)“…Malignant peripheral nerve sheath tumors (MPNST) are aggressive sarcomas characterized by high recurrence rates and early metastases. These tumors arise more…”
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12
Effects of splicing mutations on NF2-transcripts: Transcript analysis and information theoretic predictions
Published in Genes chromosomes & cancer (01-08-2011)“…This study examined the effects of 22 putative splicing mutations in the NF2 gene by means of transcript analysis and information theory based prediction…”
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13
Double NF1 inactivation affects adrenocortical function in NF1Prx1 mice and a human patient
Published in PloS one (16-03-2015)“…Neurofibromatosis type I (NF1, MIM#162200) is a relatively frequent genetic condition, which predisposes to tumor formation. Apart from tumors, individuals…”
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Imatinib mesylate (Glivec) inhibits Schwann cell viability and reduces the size of human plexiform neurofibroma in a xenograft model
Published in Journal of neuro-oncology (01-05-2010)“…Plexiform neurofibromas (PNF), one of the major features of neurofibromatosis type 1 (NF1), are characterized by complex cellular composition and mostly slow…”
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15
Preclinical assessment of the anticancer drug response of plexiform neurofibroma tissue using primary cultures
Published in Journal of clinical neurology (Seoul, Korea) (01-04-2015)“…Individualized drug testing for tumors using a strategy analogous to antibiotic tests for infectious diseases would be highly desirable for personalized and…”
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Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy
Published in Human molecular genetics (01-05-2002)“…Autosomal dominant lateral temporal epilepsy (EPT; OMIM 600512) is a form of epilepsy characterized by partial seizures, usually preceded by auditory signs…”
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Mutation and expression of PDGFRA and KIT in malignant peripheral nerve sheath tumors, and its implications for imatinib sensitivity
Published in Carcinogenesis (New York) (01-03-2006)“…Platelet-derived growth factor receptor alpha (PDGFRα) and c-Kit are receptor tyrosine kinases. Both are targets of the tyrosine kinase inhibitor imatinib…”
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Ral Overactivation in Malignant Peripheral Nerve Sheath Tumors
Published in Molecular and Cellular Biology (01-07-2009)“…Article Usage Stats Services MCB Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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Impairment of Procedural Learning and Motor Intracortical Inhibition in Neurofibromatosis Type 1 Patients
Published in EBioMedicine (01-10-2015)“…Cognitive difficulties are the most common neurological complications in neurofibromatosis type 1 (NF1) patients. Recent animal models proposed increased…”
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Constitutional NF1 mutations in neurofibromatosis 1 patients with malignant peripheral nerve sheath tumors
Published in Human mutation (01-11-2003)“…Neurofibromatosis type 1 (NF1) patients have 10% of lifetime risk for developing malignant peripheral nerve sheath tumors (MPNST), one of the most aggressive…”
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