Curtis A - Search Results

1

A large, dominant pedigree of atrioventricular septal defect (AVSD): exclusion from the Down syndrome critical region on chromosome 21.

Wilson L, Curtis A, Korenberg JR, Schipper RD, Allan L, Chenevix-Trench G, Stephenson A, Goodship J, Burn J. Wilson L, et al. Among authors: curtis a. Am J Hum Genet. 1993 Dec;53(6):1262-8. Am J Hum Genet. 1993. PMID: 8250042 Free PMC article.

2

A submicroscopic translocation, t(4;10), responsible for recurrent Wolf-Hirschhorn syndrome identified by allele loss and fluorescent in situ hybridisation.

Goodship J, Curtis A, Cross I, Brown J, Emslie J, Wolstenholme J, Bhattacharya S, Burn J. Goodship J, et al. Among authors: curtis a. J Med Genet. 1992 Jul;29(7):451-4. J Med Genet. 1992. PMID: 1640422 Free PMC article.

3

Association of less common cystic fibrosis mutations with a mild phenotype.

Curtis A, Nelson R, Porteous M, Burn J, Bhattacharya SS. Curtis A, et al. J Med Genet. 1991 Jan;28(1):34-7. doi: 10.1136/jmg.28.1.34. J Med Genet. 1991. PMID: 1999830 Free PMC article.

4

Genetic heterogeneity in hereditary haemorrhagic telangiectasia.

Porteous ME, Curtis A, Williams O, Marchuk D, Bhattacharya SS, Burn J. Porteous ME, et al. Among authors: curtis a. J Med Genet. 1994 Dec;31(12):925-6. doi: 10.1136/jmg.31.12.925. J Med Genet. 1994. PMID: 7891373 Free PMC article.

5

Four novel germ-line mutations in the APC gene detected by heteroduplex analysis.

Hamzehloei T, West SP, Chapman PD, Burn J, Curtis A. Hamzehloei T, et al. Among authors: curtis a. Hum Mol Genet. 1994 Jun;3(6):1023-4. doi: 10.1093/hmg/3.6.1023. Hum Mol Genet. 1994. PMID: 7951218 No abstract available.

6

Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy.

Garcia CC, Blair HJ, Seager M, Coulthard A, Tennant S, Buddles M, Curtis A, Goodship JA. Garcia CC, et al. Among authors: curtis a. J Med Genet. 2004 Mar;41(3):183-6. doi: 10.1136/jmg.2003.013680. J Med Genet. 2004. PMID: 14985377 Free PMC article.

7

Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease.

Curtis AR, Fey C, Morris CM, Bindoff LA, Ince PG, Chinnery PF, Coulthard A, Jackson MJ, Jackson AP, McHale DP, Hay D, Barker WA, Markham AF, Bates D, Curtis A, Burn J. Curtis AR, et al. Among authors: curtis a. Nat Genet. 2001 Aug;28(4):350-4. doi: 10.1038/ng571. Nat Genet. 2001. PMID: 11438811

8

X chromosome linkage studies in familial Rett syndrome.

Curtis AR, Headland S, Lindsay S, Thomas NS, Boye E, Kamakari S, Roustan P, Anvret M, Wahlstrom J, McCarthy G, et al. Curtis AR, et al. Hum Genet. 1993 Jan;90(5):551-5. doi: 10.1007/BF00217457. Hum Genet. 1993. PMID: 8094068

9

Isolation and characterization of three microsatellite markers in the proximal long arm of the human X chromosome.

Lindsay S, Curtis AR, Roustan P, Kamakari S, Thiselton DL, Stephenson A, Bhattacharya SS. Lindsay S, et al. Among authors: curtis ar. Genomics. 1993 Jul;17(1):208-10. doi: 10.1006/geno.1993.1303. Genomics. 1993. PMID: 8406451

10

Co-dominant inheritance of hyperekplexia and spastic paraparesis.

Baxter P, Connolly S, Curtis A, Spencer V, Ravindranath C, Burn J, Gardner-Medwin D. Baxter P, et al. Among authors: curtis a. Dev Med Child Neurol. 1996 Aug;38(8):739-43. doi: 10.1111/j.1469-8749.1996.tb12144.x. Dev Med Child Neurol. 1996. PMID: 8761170

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