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, D Gareth R, Ramsden, R T, Shenton, A, Gokhale, C, Bowers, N L, Huson, S M, Pichert, G, Wallace, A
Published in Journal of medical genetics (01.07.2007)
Published in Journal of medical genetics (01.07.2007)
Get full text
Journal Article
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, S.M., Davies, M., Thomas, N., Chuzhanova, N., Giovannini, S., Evans, D.G., Howard, E., Kerr, B., Griffiths, S., Consoli, C., Side, L., Adams, D., Pierpont, M., Hachen, R., Barnicoat, A., Li, H., Wallace, P., Van Biervliet, J.P., Stevenson, D., Viskochil, D., Baralle, D., Haan, E., Riccardi, V., Turnpenny, P., Lazaro, C., Messiaen, L.
Published in American journal of human genetics (01.01.2007)
Published in American journal of human genetics (01.01.2007)
Get full text
Journal Article
Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening
Sharif, S, Moran, A, Huson, S M, Iddenden, R, Shenton, A, Howard, E, Evans, D G R
Published in Journal of medical genetics (01.08.2007)
Published in Journal of medical genetics (01.08.2007)
Get full text
Journal Article
Further genotype - phenotype correlations in neurofibromatosis 2
Selvanathan, SK, Shenton, A, Ferner, R, Wallace, AJ, Huson, SM, Ramsden, RT, Evans, DG
Published in Clinical genetics (01.02.2010)
Published in Clinical genetics (01.02.2010)
Get full text
Journal Article
SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype
Spurlock, G, Bennett, E, Chuzhanova, N, Thomas, N, Jim, H-Ping, Side, L, Davies, S, Haan, E, Kerr, B, Huson, S M, Upadhyaya, M
Published in Journal of medical genetics (01.07.2009)
Published in Journal of medical genetics (01.07.2009)
Get full text
Journal Article
Bilateral vestibular schwannomas in older patients: NF2 or chance?
Evans, D G, Freeman, S, Gokhale, C, Wallace, A, Lloyd, S K, Axon, P, Ward, C L, Rutherford, S, King, A, Huson, S M, Ramsden, R T
Published in Journal of medical genetics (01.06.2015)
Published in Journal of medical genetics (01.06.2015)
Get full text
Journal Article
Management of the patient and family with neurofibromatosis 2: a consensus conference statement
Evans, DGR, Baser, ME, O'Reilly, B, Rowe, J, Gleeson, M, Saeed, S, King, A, Huson, SM, Kerr, R, Thomas, N, Irving, R, MacFarlane, R, Ferner, R, McLeod, R, Moffat, D, Ramsden, R
Published in British journal of neurosurgery (01.02.2005)
Published in British journal of neurosurgery (01.02.2005)
Get full text
Journal Article
Should NF2 mutation screening be undertaken in patients with an apparently isolated vestibular schwannoma?
Evans, DGR, Ramsden, RT, Gokhale, C, Bowers, N, Huson, SM, Wallace, A
Published in Clinical genetics (01.04.2007)
Published in Clinical genetics (01.04.2007)
Get full text
Journal Article
Congenital abnormalities in Brazilian children associated with misoprostol misuse in first trimester of pregnancy
Gonzalez, Claudette Hajaj, Marques-Dias, Maria Joaquina, Kim, Chong Ae, Sugayama, Sofia MM, Da Paz, José Albino, Huson, Susan M, Holmes, Lewis B
Published in The Lancet (British edition) (30.05.1998)
Published in The Lancet (British edition) (30.05.1998)
Get full text
Journal Article
A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity
Evans, D G, Huson, S M, Donnai, D, Neary, W, Blair, V, Teare, D, Newton, V, Strachan, T, Ramsden, R, Harris, R
Published in Journal of medical genetics (01.12.1992)
Published in Journal of medical genetics (01.12.1992)
Get full text
Journal Article
Evaluation of genotype-phenotype correlations in neurofibromatosis type 1
Castle, B, Baser, M E, Huson, S M, Cooper, D N, Upadhyaya, M
Published in Journal of medical genetics (01.10.2003)
Published in Journal of medical genetics (01.10.2003)
Get full text
Journal Article
Severe limb abnormalities after chorion villus sampling at 56-66 days' gestation
Firth, H.V., Boyd, P.A., Lindenbaum, R.H., Huson, S.M., Chamberlain, P., Mackenzie, I.Z.
Published in The Lancet (British edition) (30.03.1991)
Published in The Lancet (British edition) (30.03.1991)
Get full text
Journal Article
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, D.G., Bowers, N., Burkitt-Wright, E., Miles, E., Garg, S., Scott-Kitching, V., Penman-Splitt, M., Dobbie, A., Howard, E., Ealing, J., Vassalo, G., Wallace, A.J., Newman, W., Huson, S.M.
Published in EBioMedicine (01.05.2016)
Published in EBioMedicine (01.05.2016)
Get full text
Journal Article
Analysis of limb reduction defects in babies exposed to chorionic villus sampling
Firth, H.V., Huson, S.M., Boyd, P.A., Chamberlain, P.F., MacKenzie, Iz, Morriss-Kay, G.M.
Published in The Lancet (British edition) (30.04.1994)
Published in The Lancet (British edition) (30.04.1994)
Get full text
Journal Article
Radiation-induced brachial plexopathy in women treated for carcinoma of the breast
Fathers, Edward, Thrush, David, Huson, Susan M, Norman, Andrew
Published in Clinical rehabilitation (01.03.2002)
Published in Clinical rehabilitation (01.03.2002)
Get full text
Journal Article