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)
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Journal Article
Forearm muscle and bone parameters in pre-pubertal children with neurofibromatosis type 1 (NF1)
Ward, K.A, Adams, J.E, Eelloo, J, Huson, S.M, Evans, D.G.R, Mughal, M.Z
Published in Bone (New York, N.Y.) (01.07.2009)
Published in Bone (New York, N.Y.) (01.07.2009)
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Reduced spinal bone mineral density (BMD) in pre-pubertal children with neurofibromatosis type 1 (NF1)
Eelloo, J.A, Huson, S.M, Ward, K.A, Adams, J.E, Russell, S.A, Wright, N.B, Evans, D.G.R, Mughal, M.Z
Published in Bone (New York, N.Y.) (01.07.2009)
Published in Bone (New York, N.Y.) (01.07.2009)
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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)
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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, 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)
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Journal Article
Arthrogryposis multiplex congenita with maternal autoantibodies specific for a fetal antigen
Vincent, A., Newland, C., Beeson, D., Riemersma, S., Newsom-Davis, J., Brueton, L., Huson, S.M.
Published in The Lancet (British edition) (01.07.1995)
Published in The Lancet (British edition) (01.07.1995)
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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)
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Journal Article
Pigmentary anomalies in ataxia–telangiectasia: a clue to diagnosis and an example of twin spotting
Khumalo, N.P., Joss, D.V., Huson, S.M., Burge, S.
Published in British journal of dermatology (1951) (01.02.2001)
Published in British journal of dermatology (1951) (01.02.2001)
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Journal Article
170 Segmental/mosaic neurofibromatosis type 1 (NF1): A clinical study
Ruggieri, M., Moss, C., Upadhyaya, M., Huson, S.M.
Published in European journal of paediatric neurology (1999)
Published in European journal of paediatric neurology (1999)
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Journal Article
Limb abnormalities and chorion villus sampling
Firth, H.V., Boyd, P.A., Chamberlain, P., Mackenzie, I.Z., Lindenbaum, R.H., Huson, S.M.
Published in The Lancet (British edition) (06.07.1991)
Published in The Lancet (British edition) (06.07.1991)
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Journal Article
The apolipoprotein CII gene: subchromosomal localisation and linkage to the myotonic dystrophy locus
Shaw, D J, Meredith, A L, Sarfarazi, M, Huson, S M, Brook, J D, Myklebost, O, Harper, P S
Published in Human genetics (01.01.1985)
Published in Human genetics (01.01.1985)
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Journal Article
Absence of linkage of hereditary motor and sensory neuropathy type I to chromosome 1 markers
Middleton-Price, H.R., Harding, A.E., Berciano, J., Pastor, J.M., Huson, S.M., Malcolm, S.
Published in Genomics (San Diego, Calif.) (01.02.1989)
Published in Genomics (San Diego, Calif.) (01.02.1989)
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