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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: evans dg. 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.
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: evans dg. 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
Associations of clinical features in neurofibromatosis 1 (NF1).
Szudek J, Birch P, Riccardi VM, Evans DG, Friedman JM. Szudek J, et al. Among authors: evans dg. Genet Epidemiol. 2000 Dec;19(4):429-39. doi: 10.1002/1098-2272(200012)19:4<429::AID-GEPI13>3.0.CO;2-N. Genet Epidemiol. 2000. PMID: 11108651
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.
Evans DG, Bowers N, Burkitt-Wright E, Miles E, Garg S, Scott-Kitching V, Penman-Splitt M, Dobbie A, Howard E, Ealing J, Vassalo G, Wallace AJ, Newman W; Northern UK NF1 Research Network; Huson SM. Evans DG, et al. 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.
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. 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
1,326 results