14 results for author:"Forrest S.M." in Literature citations
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| A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20. Knight M.A., Hernandez D., Diede S.J., Dauwerse H.G., Rafferty I., van de Leemput J., Forrest S.M., Gardner R.J., Storey E., van Ommen G.J. et al. Hum. Mol. Genet. 17:3847-3853(2008) · UniProtKB (1) |
| Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans. van de Leemput J., Chandran J., Knight M.A., Holtzclaw L.A., Scholz S., Cookson M.R., Houlden H., Gwinn-Hardy K., Fung H.-C., Lin X. et al. |
| Array comparative genomic hybridisation analysis of boys with X linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3. Solomon N.M., Ross S.A., Morgan T., Belsky J.L., Hol F.A., Karnes P.S., Hopwood N.J., Myers S.E., Tan A.S., Warne G.L. et al. J. Med. Genet. 41:669-678(2004) · Mapped (2) |
| Spinocerebellar ataxia type 15 (sca15) maps to 3p24.2-3pter: exclusion of the ITPR1 gene, the human orthologue of an ataxic mouse mutant. Knight M.A., Kennerson M.L., Anney R.J., Matsuura T., Nicholson G.A., Salimi-Tari P., Gardner R.J., Storey E., Forrest S.M. Neurobiol. Dis. 13:147-157(2003) · Mapped (14) |
| Identification of a novel missense mutation L329I in the episodic ataxia type 1 gene KCNA1 -- a challenging problem. Knight M.A., Storey E., McKinlay Gardner R.J., Hand P., Forrest S.M. Hum. Mutat. 16:374-374(2000) · UniProtKB (1) |
| The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene. Forrest S.M., Knight M., Delatycki M.B., Paris D., Williamson R., King J., Yeung L., Nassif N., Nicholson G.A. Neurogenetics 1:253-257(1998) · UniProtKB (1) |
| G130V, a common FRDA point mutation, appears to have arisen from a common founder. Delatycki M.B., Knight M., Koenig M., Cossee M., Williamson R., Forrest S.M. Hum. Genet. 105:343-346(1999) · Mapped (1) |
| Two novel mutations of the FMO3 gene in a proband with trimethylaminuria. Akerman B.R., Forrest S.M., Chow L.M.L., Youil R., Knight M., Treacy E.P. Hum. Mutat. 13:376-379(1999) · UniProtKB (1) |
| Early-onset Alzheimer's disease caused by a novel mutation at codon 219 of the presenilin-1 gene. Smith M.J., Gardner R.J., Knight M.A., Forrest S.M., Beyreuther K., Storey E., McLean C.A., Cotton R.G., Cappal R., Masters C.L. NeuroReport 10:503-507(1999) · UniProtKB (1) |
| Mutations of the flavin-containing monooxygenase gene (FMO3) cause trimethylaminuria, a defect in detoxication. Treacy E.P., Akerman B.R., Chow L.M.L., Youil R., Bibeau C., Lin J., Bruce A.G., Knight M., Danks D.M., Cashman J.R. et al. Hum. Mol. Genet. 7:839-845(1998) · UniProtKB (1) · Mapped (1) |
| Deletions of fetal and adult muscle cDNA in Duchenne and Becker muscular dystrophy patients. Cross G.S., Speer A., Rosenthal A., Forrest S.M., Smith T.J., Edwards Y., Flint T., Hill D., Davies K.E. EMBO J. 6:3277-3283(1987) · UniProtKB (1) |
| Molecular and genetic mapping of the mouse mdx locus. Cavanna J.S., Coulton G., Morgan J.E., Brockdorff N., Forrest S.M., Davies K.E., Brown S.D. Genomics 3:337-341(1988) · Mapped (21) |
| Insertion of an extra codon for threonine is a cause of dihydropteridine reductase deficiency. Howells D.W., Forrest S.M., Dahl H.-H.M., Cotton R.G.H. Am. J. Hum. Genet. 47:279-285(1990) · UniProtKB (1) · Mapped (1) |
| Screening for mutations in the phenylalanine hydroxylase gene from Italian patients with phenylketonuria by using the chemical cleavage method: a new splice mutation. Dianzani I., Forrest S.M., Camaschella C., Saglio G., Ponzone A., Cotton R.G. Am. J. Hum. Genet. 48:631-635(1991) · UniProtKB (1) |