Charlton RS - Search Results

1

Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping.

Watson CM, Crinnion LA, Berry IR, Harrison SM, Lascelles C, Antanaviciute A, Charlton RS, Dobbie A, Carr IM, Bonthron DT. Watson CM, et al. Among authors: charlton rs. BMC Med Genet. 2016 Jan 4;17:1. doi: 10.1186/s12881-015-0265-z. BMC Med Genet. 2016. PMID: 26729329 Free PMC article.

2

Extensive gene conversion at the PMS2 DNA mismatch repair locus.

Hayward BE, De Vos M, Valleley EM, Charlton RS, Taylor GR, Sheridan E, Bonthron DT. Hayward BE, et al. Among authors: charlton rs. Hum Mutat. 2007 May;28(5):424-30. doi: 10.1002/humu.20457. Hum Mutat. 2007. PMID: 17253626

3

Molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Hong Kong Chinese patients.

Chan AO, But WM, Ng KL, Wong LM, Lam YY, Tiu SC, Lee KF, Lee CY, Loung PY, Berry IR, Brown R, Charlton R, Cheng CW, Ho YC, Tse WY, Shek CC. Chan AO, et al. Steroids. 2011 Sep-Oct;76(10-11):1057-62. doi: 10.1016/j.steroids.2011.04.010. Epub 2011 Apr 28. Steroids. 2011. PMID: 21570420

4

Gene symbol: VHL.

Mavrogiannis LA, Henderson A, Douglas F, Charlton RS. Mavrogiannis LA, et al. Among authors: charlton rs. Hum Genet. 2007 Apr;121(2):299. Hum Genet. 2007. PMID: 17598225 No abstract available.

5

Novel human pathological mutations. Gene symbol: APC. Disease: familial adenomatous polyposis.

Mavrogiannis LA, Chu CE, Charlton RS. Mavrogiannis LA, et al. Among authors: charlton rs. Hum Genet. 2009 Apr;125(3):333. doi: 10.1007/s00439-009-0642-9. Hum Genet. 2009. PMID: 19263084 No abstract available.

6

Novel human pathological mutations. Gene symbol: APC. Disease: Adenomatous polyposis coli.

Mavrogiannis LA, Chu CE, Charlton RS. Mavrogiannis LA, et al. Among authors: charlton rs. Hum Genet. 2009 Aug;126(2):333-4. Hum Genet. 2009. PMID: 19694001 No abstract available.

7

The common TMC1 mutation c.100C>T (p.Arg34X) is not a significant cause of deafness in British Asians.

Searle C, Mavrogiannis LA, Bennett CP, Charlton RS. Searle C, et al. Among authors: charlton rs. Genet Test Mol Biomarkers. 2012 May;16(5):453-5. doi: 10.1089/gtmb.2011.0254. Epub 2012 Jan 30. Genet Test Mol Biomarkers. 2012. PMID: 22288896

8

Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA.

Taylor CF, Charlton RS, Burn J, Sheridan E, Taylor GR. Taylor CF, et al. Among authors: charlton rs. Hum Mutat. 2003 Dec;22(6):428-33. doi: 10.1002/humu.10291. Hum Mutat. 2003. PMID: 14635101

9

Investigations on a clinically and functionally unusual and novel germline p53 mutation.

Rutherford J, Chu CE, Duddy PM, Charlton RS, Chumas P, Taylor GR, Lu X, Barnes DM, Camplejohn RS. Rutherford J, et al. Among authors: charlton rs. Br J Cancer. 2002 May 20;86(10):1592-6. doi: 10.1038/sj.bjc.6600269. Br J Cancer. 2002. PMID: 12085209 Free PMC article.

10

Screening of potential novel candidate genes in schwannomatosis patients.

Perez-Becerril C, Wallace AJ, Schlecht H, Bowers NL, Smith PT, Gokhale C, Eaton H, Charlton C, Robinson R, Charlton RS, Evans DG, Smith MJ. Perez-Becerril C, et al. Among authors: charlton rs. Hum Mutat. 2022 Oct;43(10):1368-1376. doi: 10.1002/humu.24424. Epub 2022 Jun 27. Hum Mutat. 2022. PMID: 35723634 Free PMC article.

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