Spearheaded an international consortium analysis of children with NF1 and autism, which revealed new insights into the differences between autism in NF1 and that occurring in people without NF1 First demonstration that the specific germline NF1 gene mutation dramatically impacts optic glioma development and vision impairment Identification of a novel mechanistic target of rapamycin mTOR complex in the brain important for NF1 gene function Reported associations between allergic conditions and brain tumors in children with NF1 Generation of the first model of NF1 malignant peripheral nerve sheath tumor MPNST in which the timing and location of cancer development can be controlled.
Discovered genomic predictor of NF1-brain tumor development Launched a social skills program for teenagers with NF1 Teen NF Identified a new growth factor made by non-cancerous cells that control mouse optic glioma growth Discovered how RAS controls brain stem cell function Described the frequency of autism in children with NF1 Identified another treatment for NF1 optic glioma, now in clinical trial for children with NF1 brain tumors Used advanced sequencing methods to identify a new gene involved in NF1 malignant sarcoma malignant peripheral nerve sheath tumors Reported the first use of NF1 patient-derived stem cells to generate brain nerve cells Discovered why NF1 optic glioma stem cells are less sensitive to some brain tumor treatments.
Performed the first whole genome sequencing of NF1-associated low-grade glioma Demonstrated that non-cancerous cells in NF1-associated optic glioma are necessary for tumor formation Showed that reduced dopamine levels are also partly responsible for learning problems in NF1 genetically-engineered mice Characterized the spectrum of sleep problems in people affected with NF1 Collaborated with Jazz St. Demonstrated frequent development delays in children with NF1 Demonstrated that differences between stem cells in particular brain regions partly determine the pattern of brain tumor formation in children Identified the cell of origin for NF1-associated optic glioma Established the NF1 Brain Trust Project NBTP in which skin cells are converted to nerve cells for laboratory and translational research studies.
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Physical mapping of a translocation breakpoint in neurofibromatosis. Fine structure DNA mapping studies of the chromosomal region harboring the genetic defect in neurofibromatosis type I. Am J Hum Genet. Genetic analysis of eight loci tightly linked to neurofibromatosis 1.
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A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor. Neurofibromatosis type 1 in childhood: correlation of MRI findings with intelligence. J Neurol Neurosurg Psychiatry. Mutation in the neurofibromatosis 1 gene in sporadic malignant melanoma cell lines. Nat Genet. Goloni-Bertollo EM. Huson SM. The neurofibromatoses. A pathogenetic and clinical overview.
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A search for evidence of somatic mutations in the NF1 gene. Evaluation of fluorodeoxyglucose positron emission tomography FDG PET in the detection of malignant peripheral nerve sheath tumours arising from within plexiform neurofibromas in neurofibromatosis 1. Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children. Mortality in neurofibromatosis 1: an analysis using U. Dubousset J. Decreased bone mineral density in neurofibromatosis-1 patients with spinal deformities.
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Identification of growth hormone receptor in localised neurofibromas of patients with neurofibromatosis type 1. J Clin Pathol. Ozerdem U. Targeting Neovascular Pericytes in Neurofibromatosis type 1.
Decreased bone mineral density and content in neurofibromatosis type 1: lowest local values are located in the load-carrying parts of the body. Transcriptional repression of the Neurofibromatosis-1 tumor suppressor by the t 8;21 fusion protein. Mol Cell Biol. Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q Muniz MP. Association between benign and malignant peripheral nerve sheath tumors in NF1.
Cafe-au-lait spots in neurofibromatosis type 1 and in healthy control individuals: hyperpigmentation of a different kind? Impact of neurofibromatosis 1 on Quality of Life: a cross-sectional study of American cases.
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The early literature on the subject included repeated descriptions of patients with manifestations typical of NF The investigators, however, considered the intracranial lesions to be merely 1 facet of the generalized form of the disease.
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