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Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only.
EBioMedicine. 2016 May;7:212-20. doi: 10.1016/j.ebiom.2016.04.005. Epub 2016 Apr 13.
EBioMedicine. 2016.
PMID: 27322474
Free PMC article.
Mortality in neurofibromatosis 1: in North West England: an assessment of actuarial survival in a region of the UK since 1989.
Evans DG, O'Hara C, Wilding A, Ingham SL, Howard E, Dawson J, Moran A, Scott-Kitching V, Holt F, Huson SM.
Evans DG, et al. Among authors: scott kitching v.
Eur J Hum Genet. 2011 Nov;19(11):1187-91. doi: 10.1038/ejhg.2011.113. Epub 2011 Jun 22.
Eur J Hum Genet. 2011.
PMID: 21694737
Free PMC article.
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Clinical and molecular predictors of mortality in neurofibromatosis 2: a UK national analysis of 1192 patients.
Hexter A, Jones A, Joe H, Heap L, Smith MJ, Wallace AJ, Halliday D, Parry A, Taylor A, Raymond L, Shaw A, Afridi S, Obholzer R, Axon P, King AT; English Specialist NF2 Research Group; Friedman JM, Evans DG.
Hexter A, et al.
J Med Genet. 2015 Oct;52(10):699-705. doi: 10.1136/jmedgenet-2015-103290. Epub 2015 Aug 14.
J Med Genet. 2015.
PMID: 26275417
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