S. Huson

发表

DNA testing for fragile X syndrome in schools for learning difficulties.

K. Davies, A. Wilkie, Z. Christodoulou, 1995, Archives of disease in childhood.

Analysis of limb reduction defects in babies exposed to chorionic villus sampling

H. Firth, S. Huson, P. Chamberlain, 1994, The Lancet.

Close flanking markers for neurofibromatosis type I (NF1).

P. Harper, M. Upadhyaya, A. Fryer, 1989, American journal of human genetics.

Linkage relationships of the insulin receptor gene with the complement component 3, LDL receptor, apolipoprotein C2 and myotonic dystrophy loci on chromosome 19

D. Shaw, P. Harper, G. Bell, 1986, Human Genetics.

Should NF2 mutation screening be undertaken in patients with an apparently isolated vestibular schwannoma?

S. Huson, R. Ramsden, A. Wallace, 2007, Clinical genetics.

Service provision of complex mutation analysis: a technical and economic appraisal using dystrophin point mutation analysis as an example

A. Seller, J. Hopkin, D. Cockburn, 2002, Clinical genetics.

Prenatal diagnosis and presymptomatic detection of neurofibromatosis type 1.

P. Harper, M. Upadhyaya, A. Fryer, 1992, Journal of medical genetics.

Management of the patient and family with neurofibromatosis 2: a consensus conference statement

D. Evans, M. Gleeson, S. Huson, 2005, British journal of neurosurgery.

Severe limb abnormalities after chorion villus sampling at 56-66 days' gestation

H. Firth, S. Huson, I. Mackenzie, 1991, The Lancet.

Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene

M. Pericak-Vance, M. Spence, R. Martuza, 1987, Cell.

Application of a closely linked polymorphism of restriction fragment length to counselling and prenatal testing in families with myotonic dystrophy.

D. Shaw, P. Harper, M. Sarfarazi, 1986, British medical journal.

Further genotype – phenotype correlations in neurofibromatosis 2

A. Shenton, R. Ferner, R. Ramsden, 2009, Clinical genetics.

Evidence against Linkage of von Recklinghausen Neurofibromatosis and Chromosome 19 Markers

D. Shaw, M. Sarfarazi, A. Meredith, 1986, Annals of the New York Academy of Sciences.

Linkage analysis of peripheral neurofibromatosis (Von Recklinghausen disease) and chromosome 19 markers linked to myotonic dystrophy.

D. Shaw, P. Harper, M. Sarfarazi, 1986, Journal of medical genetics.

Chromosome 17 markers and von Recklinghausen neurofibromatosis: a genetic linkage study in a British population.

P. Harper, M. Upadhyaya, K. Stephens, 1987, Genomics.

Further exclusion data for the Von Recklinghausen neurofibromatosis gene: a genetic linkage study of 19 polymorphic markers.

P. Harper, M. Upadhyaya, M. Sarfarazi, 1987, Journal of medical genetics.

A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity.

S. Huson, P. Harper, D. Compston, 1989, Journal of medical genetics.

A genetic study of von Recklinghausen neurofibromatosis in south east Wales. II. Guidelines for genetic counselling.

S. Huson, P. Harper, D. Compston, 1989, Journal of medical genetics.

Pigmentary anomalies in ataxia–telangiectasia: a clue to diagnosis and an example of twin spotting

S. Huson, N. Khumalo, S. Burge, 2001, The British journal of dermatology.

Mutation type and position varies between mosaic and inherited NF2 and correlates with disease severity

A. Wallace, N. Bowers, S. Huson, 2013, Clinical genetics.

Limb abnormalities and chorion villus sampling

H. Firth, I. Mackenzie, P. Chamberlain, 1991, The Lancet.

DNA testing for fragile X syndrome in schools for learning difficulties.

K. Davies, Z. Christodoulou, R. Charlton, 1995, Archives of disease in childhood.

A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity.

D. Compston, P. Harper, P. Clark, 1989, Journal of medical genetics.

Linkage analysis of peripheral neurofibromatosis (Von Recklinghausen disease) and chromosome 19 markers linked to myotonic dystrophy.

D. Shaw, P. Harper, M. Sarfarazi, 1986, Journal of medical genetics.

Absence of linkage of hereditary motor and sensory neuropathy type I to chromosome 1 markers.

J. Pastor, A. Harding, S. Malcolm, 1989, Genomics.