Search Results - "Turner, C L S"

Epigenotype-phenotype correlations in Silver-Russell syndrome by Wakeling, E L, Amero, S Abu, Alders, M, Bliek, J, Forsythe, E, Kumar, S, Lim, D H, MacDonald, F, Mackay, D J, Maher, E R, Moore, G E, Poole, R L, Price, S M, Tangeraas, T, Turner, C L S, Van Haelst, M M, Willoughby, C, Temple, I K, Cobben, J M

“…Silver-Russell syndrome (SRS) is characterised by intrauterine growth restriction, poor postnatal growth, relative macrocephaly, triangular face and asymmetry…”
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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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Mid-trimester hyperechogenic bowel in a fetus of Japanese origin: caution in interpreting reported CFTR mutation (L548Q) by Turner, C. L. S., Skinner, A. C., Castle, B. M., Wellesley, D. G.

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