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Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder
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Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3 NF1 deletions
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Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome
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Identification of recurrent type-2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder
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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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Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis-1 like phenotype
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Second hit mutation analysis in melanocytes, keratinocytes and fibroblasts obtained from NF1 cafe-au-lait macules reveals presence of two NF1 hits in the melanocytes
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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