Carter SA - Search Results

1

Exclusion of chromosome 6 and 8 locations in nonrhodopsin autosomal dominant retinitis pigmentosa families: further locus heterogeneity in adRP.

Bashir R, Inglehearn CF, Keen TJ, Lindsey J, Atif U, Carter SA, Stephenson AM, Jackson A, Jay M, Bird AC, et al. Bashir R, et al. Among authors: carter sa. Genomics. 1992 Sep;14(1):191-3. doi: 10.1016/s0888-7543(05)80306-4. Genomics. 1992. PMID: 1427827

2

Linkage analyses in British pedigrees suggest a single locus for Darier disease and narrow the location to the interval between D12S105 and D12S129.

Carter SA, Bryce SD, Munro CS, Healy E, Bashir R, Weissenbach J, LeBlanc-Straceski J, Kucherlapati R, Stephenson A, Rees JL, et al. Carter SA, et al. Genomics. 1994 Nov 15;24(2):378-82. doi: 10.1006/geno.1994.1632. Genomics. 1994. PMID: 7698764

3

A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p.

Inglehearn CF, Carter SA, Keen TJ, Lindsey J, Stephenson AM, Bashir R, al-Maghtheh M, Moore AT, Jay M, Bird AC, et al. Inglehearn CF, et al. Among authors: carter sa. Nat Genet. 1993 May;4(1):51-3. doi: 10.1038/ng0593-51. Nat Genet. 1993. PMID: 8513323

4

A gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12-q21.

Munro CS, Carter S, Bryce S, Hall M, Rees JL, Kunkeler L, Stephenson A, Strachan T. Munro CS, et al. J Med Genet. 1994 Sep;31(9):675-8. doi: 10.1136/jmg.31.9.675. J Med Genet. 1994. PMID: 7529318 Free PMC article.

5

A sequence-ready physical map of a region of 12q24.1.

Renault B, Hovnanian A, Bryce S, Chang JJ, Lau S, Sakuntabhai A, Monk S, Carter S, Ross CJ, Pang J, Twells R, Chamberlain S, Monaco AP, Strachan T, Kucherlapati R. Renault B, et al. Genomics. 1997 Oct 15;45(2):271-8. doi: 10.1006/geno.1997.4888. Genomics. 1997. PMID: 9344649

6

Refined genetic mapping of the darier locus to a <1-cM region of chromosome 12q24.1, and construction of a complete, high-resolution P1 artificial chromosome/bacterial artificial chromosome contig of the critical region.

Monk S, Sakuntabhai A, Carter SA, Bryce SD, Cox R, Harrington L, Levy E, Ruiz-Perez VL, Katsantoni E, Kodvawala A, Munro CS, Burge S, Larrègue M, Nagy G, Rees JL, Lathrop M, Monaco AP, Strachan T, Hovnanian A. Monk S, et al. Among authors: carter sa. Am J Hum Genet. 1998 Apr;62(4):890-903. doi: 10.1086/301794. Am J Hum Genet. 1998. PMID: 9529352 Free PMC article.

7

Germline mutations in the neurofibromatosis type 2 tumour suppressor gene.

Bourn D, Carter SA, Mason S, Gareth D, Evans R, Strachan T. Bourn D, et al. Among authors: carter sa. Hum Mol Genet. 1994 May;3(5):813-6. doi: 10.1093/hmg/3.5.813. Hum Mol Genet. 1994. PMID: 8081368

8

ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class.

Ruiz-Perez VL, Carter SA, Healy E, Todd C, Rees JL, Steijlen PM, Carmichael AJ, Lewis HM, Hohl D, Itin P, Vahlquist A, Gobello T, Mazzanti C, Reggazini R, Nagy G, Munro CS, Strachan T. Ruiz-Perez VL, et al. Among authors: carter sa. Hum Mol Genet. 1999 Sep;8(9):1621-30. doi: 10.1093/hmg/8.9.1621. Hum Mol Genet. 1999. PMID: 10441324

9

A mutation in the neurofibromatosis type 2 tumor-suppressor gene, giving rise to widely different clinical phenotypes in two unrelated individuals.

Bourn D, Carter SA, Evans DG, Goodship J, Coakham H, Strachan T. Bourn D, et al. Among authors: carter sa. Am J Hum Genet. 1994 Jul;55(1):69-73. Am J Hum Genet. 1994. PMID: 8023853 Free PMC article.

10

RMRP mutations in cartilage-hair hypoplasia.

Hermanns P, Tran A, Munivez E, Carter S, Zabel B, Lee B, Leroy JG. Hermanns P, et al. Am J Med Genet A. 2006 Oct 1;140(19):2121-30. doi: 10.1002/ajmg.a.31331. Am J Med Genet A. 2006. PMID: 16838329

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