Application Of A Closely Linked Polymorphism Of Restriction Fragment Length To Counselling And Prenatal Testing In Families With Myotonic Dystrophy

Autor: Meredith, A. L., Huson, S. M., Lunt, P. W., Sarfarazi, M., Harley, H. G., Brook, J. D., Shaw, D. J., Harper, P. S.

Publikováno v: British Medical Journal (Clinical Research Edition), 1986 Nov . 293(6558), 1353-1356.

Externí odkaz: https://www.jstor.org/stable/29525233

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

Autor: Evans, D. G., Bowers, N., Huson, S. M., Wallace, A.

Publikováno v: Evans, D G, Bowers, N, Huson, S M & Wallace, A 2013, ' Mutation type and position varies between mosaic and inherited NF2 and correlates with disease severity ', Clinical Genetics, vol. 83, no. 6, pp. 594-595 . https://doi.org/10.1111/cge.12007

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3818::839b9d54930e1f7b857d1bb85d5ad543
http://www.scopus.com/inward/record.url?scp=84876788840&partnerID=8YFLogxK

Anita Harding (1952-95): In Memoriam

Autor: Poulton, J., Huson, S. M.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmc_________::9dcf1d54a66e27385b010a081407c8e3
https://europepmc.org/articles/PMC1914930/

An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): evidence for modifying genes

Autor: Easton, D F, Ponder, M A, Huson, S M, Ponder, B A

Neurofibromatosis (NF) type 1 (NF1) is notable for its variable expression. To determine whether variation in expression has an inherited component, we examined 175 individuals in 48 NF families, including six MZ twin pairs. Three quantitative traits

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::72efca07a4bfa36d24b7598bb0202a2d
https://europepmc.org/articles/PMC1682337/

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