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Neurofibromatosis type 2: Multiple intra-dermal tumors in a toddler.
Rustad CF, Dahl HM, Bowers NL, Sitek JC, Heiberg A, Huson S, Prescott T, Evans DGR. Rustad CF, et al. Among authors: huson s. Am J Med Genet A. 2017 May;173(5):1447-1449. doi: 10.1002/ajmg.a.38177. Epub 2017 Apr 3. Am J Med Genet A. 2017. PMID: 28371307 No abstract available.
Cranial meningiomas in 411 neurofibromatosis type 2 (NF2) patients with proven gene mutations: clear positional effect of mutations, but absence of female severity effect on age at onset.
Smith MJ, Higgs JE, Bowers NL, Halliday D, Paterson J, Gillespie J, Huson SM, Freeman SR, Lloyd S, Rutherford SA, King AT, Wallace AJ, Ramsden RT, Evans DG. Smith MJ, et al. Among authors: huson sm. J Med Genet. 2011 Apr;48(4):261-5. doi: 10.1136/jmg.2010.085241. Epub 2011 Jan 28. J Med Genet. 2011. PMID: 21278391
Mosaicism in neurofibromatosis type 2: an update of risk based on uni/bilaterality of vestibular schwannoma at presentation and sensitive mutation analysis including multiple ligation-dependent probe amplification.
Evans DG, Ramsden RT, Shenton A, Gokhale C, Bowers NL, Huson SM, Pichert G, Wallace A. Evans DG, et al. Among authors: huson sm. J Med Genet. 2007 Jul;44(7):424-8. doi: 10.1136/jmg.2006.047753. Epub 2007 Feb 16. J Med Genet. 2007. PMID: 17307835 Free PMC article.
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
Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis.
Burkitt Wright EM, Sach E, Sharif S, Quarrell O, Carroll T, Whitehouse RW, Upadhyaya M, Huson SM, Evans DG. Burkitt Wright EM, et al. Among authors: huson sm. J Med Genet. 2013 Sep;50(9):606-13. doi: 10.1136/jmedgenet-2013-101648. Epub 2013 Jun 28. J Med Genet. 2013. PMID: 23812910 Free PMC article.
Further genotype--phenotype correlations in neurofibromatosis 2.
Selvanathan SK, Shenton A, Ferner R, Wallace AJ, Huson SM, Ramsden RT, Evans DG. Selvanathan SK, et al. Among authors: huson sm. Clin Genet. 2010 Feb;77(2):163-70. doi: 10.1111/j.1399-0004.2009.01315.x. Epub 2009 Nov 23. Clin Genet. 2010. PMID: 19968670
Bilateral vestibular schwannomas in older patients: NF2 or chance?
Evans DG, Freeman S, Gokhale C, Wallace A, Lloyd SK, Axon P, Ward CL, Rutherford S, King A, Huson SM, Ramsden RT; Manchester NF2 service. Evans DG, et al. Among authors: huson sm. J Med Genet. 2015 Jun;52(6):422-4. doi: 10.1136/jmedgenet-2014-102973. Epub 2015 Feb 27. J Med Genet. 2015. PMID: 25725045
172 results