Search Results - "Bunyan, D.J."

PSEUDODOMINANT INHERITANCE OF SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY by TERRACCIANO, A, FOULDS, N. C, DITCHFIELD, A, BUNYAN, D. J, CROLLA, J. A, HUANG, S, SANTORELLI, F. M, HAMMANS, S. R

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Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data by Aitken, Stuart, McRae, Jeremy, Kini, Usha, Parker, Michael J., Joss, Shelagh, Scott, Richard H., Hurles, Matthew E., FitzPatrick, David R., Morley, K.I., Al-Turki, S., Ambridge, K., Barrett, D.M., Bayzetinova, T., Krishnappa, N., Mason, L.E., Middleton, A., Prigmore, E., Tivey, A.R., Akawi, N., Andrews, R., Armstrong, R., Balasubramanian, M., Banerjee, R., Baty, D., Bernhard, B., Blair, E., Bourn, D., Brady, A., Brewer, C., Burn, J., Connell, F., Cooper, N., Cross, G., Dixit, A., Ellis, P., Fendick, T., Fisher, R., Greenhalgh, L., Hawkins, R., Hobson, E., Holden, S., Holder, S., Hurst, J., Ingram, S., Jarvis, J., Johnson, D., Joss, S., Kaemba, B., Kirby, G., Kraus, A., Kumar, D., Lim, D., Lowther, G., Marks, K., Maye, U., McConnell, V., McGowan, R., McMullan, D.J., Metcalfe, K., Mohammed, S., Nevitt, L., Newbury-Ecob, R., Ogilvie, C., Paterson, J., Payne, S., Porteous, D., Raymond, L., Roberts, E., Roberts, G., Roberts, P., Ross, A., Saggar, A., Sandford, R., Schweiger, S., Scott, C., Selby, A., Seller, A., Shears, D., Singzon, R., Smith, B., Sneddon, L., Stewart, F., Stewart, H., Suri, M., Swaminathan, G.J., Sweeney, E., Tolmie, J., Turner, C., Tysoe, C., Vasudevan, P., Vogt, J., Waters, J., Wellesley, D., Widaa, S., Wilcox, S., Williams, N., Yang, F., Wright, C.F., Barrett, J.C., Hurles, M.E.

“…Trio-based whole-exome sequence (WES) data have established confident genetic diagnoses in ∼40% of previously undiagnosed individuals recruited to the…”
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Detection of 53 FBN1 mutations (41 novel and 12 recurrent) and genotype-phenotype correlations in 113 unrelated probands referred with Marfan syndrome, or a related fibrillinopathy by Turner, C.L.S., Emery, H., Collins, A.L., Howarth, R.J., Yearwood, C.M., Cross, E., Duncan, P.J., Bunyan, D.J., Harvey, J.F., Foulds, N.C.

“…Mutations in the gene encoding fibrillin 1 (FBN1) cause Marfan syndrome (MFS), and related connective tissue disorders. The disease spectrum is wide and while…”
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Pancreatic hypoplasia presenting with neonatal diabetes mellitus in association with congenital heart defect and developmental delay by Balasubramanian, M., Shield, J.P.H., Acerini, C.L., Walker, J., Ellard, S., Marchand, M., Polak, M., Vaxillaire, M., Crolla, J.A., Bunyan, D.J., Mackay, D.J.G., Temple, I.K.

“…Congenital pancreatic hypoplasia is a rare cause of neonatal diabetes. We report on a series of three patients with pancreatic agenesis and congenital heart…”
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No evidence for amplification of V617F JAK2 in myeloproliferative disorders by Jones, A V, Bunyan, D J, Cross, N C P

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