9
results
for author:"Shaw-Smith C."
in Literature Citations
| Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations. Stankiewicz P., Sen P., Bhatt S.S., Storer M., Xia Z., Bejjani B.A., Ou Z., Wiszniewska J., Driscoll D.J., Maisenbacher M.K. et al. Am. J. Hum. Genet. 84:780-791(2009) · Mapped (1) |
| VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5. Szumska D., Pieles G., Essalmani R., Bilski M., Mesnard D., Kaur K., Franklyn A., El Omari K., Jefferis J., Bentham J. et al. Genes Dev. 22:1465-1477(2008) · Mapped (25) |
| Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability. Shaw-Smith C., Pittman A.M., Willatt L., Martin H., Rickman L., Gribble S., Curley R., Cumming S., Dunn C., Kalaitzopoulos D. et al. Nat. Genet. 38:1032-1037(2006) · Mapped (5) |
| DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K. et al. Nature 440:1045-1049(2006) · UniProtKB (913) |
| The DNA sequence of the human X chromosome. Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P. et al. Nature 434:325-337(2005) · UniProtKB (1,199) |
| Human ileal bile acid-binding protein promoter and the effects of CDX2. Barley N.F., Taylor V., Shaw-Smith C.J., Chakravarty P., Howard A., Legon S., Walters J.R. Biochim. Biophys. Acta 1630:138-143(2003) · Mapped (2) |
| Characterization of a novel murine intestinal serine protease, DISP. Shaw-Smith C.J., Coffey A.J., Leversha M., Freeman T.C., Bentley D.R., Walters J.R.F. Biochim. Biophys. Acta 1490:131-136(2000) · UniProtKB (1) · Mapped (1) |
| Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene. Coffey A.J., Brooksbank R.A., Brandau O., Oohashi T., Howell G.R., Bye J.M., Cahn A.P., Durham J., Heath P., Wray P. et al. |
| Characterization of DRP2, a novel human dystrophin homologue. Roberts R.G., Freeman T.C., Kendall E., Vetrie D.L.P., Dixon A.K., Shaw-Smith C., Bone Q., Bobrow M. |
