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Familial Cancer|June 7, 2007
Somatic alterations of the NF1 gene in an NF1 individual with multiple benign tumours (internal and external) and malignant tumour typesGill Spurlock, Siân Griffiths, Jeremy Uff, et al.
Pediatric Blood & Cancer|May 22, 2007
A novel mutation in the NF1 gene in two siblings with neurofibromatosis type 1 and bilateral optic pathway gliomaRejin Kebudi, Samuray Tuncer, Meena Upadhyaya, et al.
Journal of Cancer Research and Clinical Oncology|March 16, 2010
Molecular evolution of a neurofibroma to malignant peripheral nerve sheath tumor (MPNST) in an NF1 patient: correlation between histopathological, clinical and molecular findingsGill Spurlock, Samantha J L Knight, Nick Thomas, et al.
Human Mutation|May 20, 2008
Germline and somatic NF1 gene mutations in plexiform neurofibromasMeena Upadhyaya, Gill Spurlock, Bisma Monem, et al.
Neurogenetics|February 18, 2009
The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromasMeena Upadhyaya, Gill Spurlock, Lan Kluwe, et al.
BMC Medical Genomics|March 6, 2024
Correlation between large rearrangements and patient phenotypes in NF1 deletion syndrome: an update and reviewLaurence Pacot, Milind Girish, Samantha Knight, et al.
Human Mutation|June 21, 2006
The heterogeneous nature of germline mutations in NF1 patients with malignant peripheral serve sheath tumours (MPNSTs)Meena Upadhyaya, Gill Spurlock, Elisa Majounie, et al.
Human Mutation|February 15, 2012
Microarray-based copy number analysis of neurofibromatosis type-1 (NF1)-associated malignant peripheral nerve sheath tumors reveals a role for Rho-GTPase pathway genes in NF1 tumorigenesisMeena Upadhyaya, Gill Spurlock, Laura Thomas, et al.
European Journal of Human Genetics : EJHG|November 24, 2011
Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromasLaura Thomas, Gill Spurlock, Claire Eudall, et al.
Skin Health and Disease|October 2, 2024
Pigment epithelium derived factor drives melanocyte proliferation and migration in neurofibromatosis café au lait maculesCharlotte Lovatt, Megan Williams, Alex Gibbs, et al.
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