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BMJ Case Reports|June 19, 2012
Familial multiple lipomatosis with clear autosomal dominant inheritance and onset in early adolescenceCheng-Hiang Lee, Roy A J Spence, Meena Upadhyaya, et al.Human Genomics|June 23, 2017
The NF1 somatic mutational landscape in sporadic human cancersCharlotte Philpott, Hannah Tovell, Ian M Frayling, et al.The Journal of Investigative Dermatology|August 25, 2005
Gonosomal mosaicism for a nonsense mutation (R1947X) in the NF1 gene in segmental neurofibromatosis type 1Claudia Consoli, Celia Moss, Stuart Green, et al.Human Mutation|July 19, 2012
Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) geneLaura Thomas, Mark Richards, Matthew Mort, et al.European Journal of Human Genetics : EJHG|April 24, 2014
Identification of two novel SMCHD1 sequence variants in families with FSHD-like muscular dystrophyJincy Winston, Laura Duerden, Matthew Mort, et al.Human Mutation|July 4, 2012
Review and update of SPRED1 mutations causing Legius syndromeHilde Brems, Eric Pasmant, Rick Van Minkelen, 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.Human Genetics|December 17, 2002
Three different pathological lesions in the NF1 gene originating de novo in a family with neurofibromatosis type 1Meena Upadhyaya, Elisa Majounie, Peter Thompson, et al.Pageof 8