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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
A clinical study of type 2 neurofibromatosis.
Evans DG, Huson SM, Donnai D, Neary W, Blair V, Newton V, Harris R. Evans DG, et al. Among authors: huson sm. Q J Med. 1992 Aug;84(304):603-18. Q J Med. 1992. PMID: 1484939
An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation.
Upadhyaya M, Huson SM, Davies M, Thomas N, Chuzhanova N, Giovannini S, Evans DG, Howard E, Kerr B, Griffiths S, Consoli C, Side L, Adams D, Pierpont M, Hachen R, Barnicoat A, Li H, Wallace P, Van Biervliet JP, Stevenson D, Viskochil D, Baralle D, Haan E, Riccardi V, Turnpenny P, Lazaro C, Messiaen L. Upadhyaya M, et al. Among authors: huson sm. Am J Hum Genet. 2007 Jan;80(1):140-51. doi: 10.1086/510781. Epub 2006 Dec 8. Am J Hum Genet. 2007. PMID: 17160901 Free PMC article.
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.
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
165 results