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Glomus tumors in neurofibromatosis type 1: genetic, functional, and clinical evidence of a novel association
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Glomus tumors in neurofibromatosis type 1: genetic, functional, and clinical evidence of a novel association (vol 69, pg 7393, 2009)
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Somatic mutation analysis in NF1 cafe au lait spots reveals two NF1 hits in the melanocytes
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Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1
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Comprehensive NF1 screening on cultured Schwann cells from neurofibromas: towards an extensive study of the somatic mutation spectrum in neurofibromatosis type 1
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- PhD Thesis
- open access
New insights in the molecular pathogenesis of neurofibromatosis type 1
(2006) -
Spectrum of single- and multiexon NFI copy number changes in a cohort of 1,100 unselected NFI patients
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Molecular pathogenesis of multiple gastrointestinal stromal tumors in NF1 patients
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Somatic loss of wild type NF1 allele in neurofibromas: Comparison of NF1 microdeletion and non-microdeletion patients
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Real-time quantitative allele discrimination assay using 3 ' locked nucleic acid primers for detection of low-percentage mosaic mutations
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Independent NF1 mutations in two large families with spinal neurofibromatosis