Ramsden S - Search Results

1

Molecular genetics of retinitis pigmentosa in two Romani (Gypsy) families.

Chakarova CF, Cherninkova S, Tournev I, Waseem N, Kaneva R, Jordanova A, Veraitch BK, Gill B, Colclough T, Nakova A, Oscar A, Mihaylova V, Nikolova-Hill A, Wright AF, Black GC, Ramsden S, Kremensky I, Bhattacharya SS. Chakarova CF, et al. Among authors: ramsden s. Mol Vis. 2006 Aug 11;12:909-14. Mol Vis. 2006. PMID: 16917484 Free article.

2

Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males.

Clayton-Smith J, Watson P, Ramsden S, Black GC. Clayton-Smith J, et al. Among authors: ramsden s. Lancet. 2000 Sep 2;356(9232):830-2. doi: 10.1016/s0140-6736(00)02661-1. Lancet. 2000. PMID: 11022934

3

Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein.

Watson P, Black G, Ramsden S, Barrow M, Super M, Kerr B, Clayton-Smith J. Watson P, et al. Among authors: ramsden s. J Med Genet. 2001 Apr;38(4):224-8. doi: 10.1136/jmg.38.4.224. J Med Genet. 2001. PMID: 11283202 Free PMC article.

4

RPGR mutation analysis and disease: an update.

Shu X, Black GC, Rice JM, Hart-Holden N, Jones A, O'Grady A, Ramsden S, Wright AF. Shu X, et al. Among authors: ramsden s. Hum Mutat. 2007 Apr;28(4):322-8. doi: 10.1002/humu.20461. Hum Mutat. 2007. PMID: 17195164

5

Clinical and biochemical effects of the E139K missense mutation in the TIMP3 gene, associated with Sorsby fundus dystrophy.

Saihan Z, Li Z, Rice J, Rana NA, Ramsden S, Schlottmann PG, Jenkins SA, Blyth C, Black GC, McKie N, Webster AR. Saihan Z, et al. Among authors: ramsden s. Mol Vis. 2009 Jun 15;15:1218-30. Mol Vis. 2009. PMID: 19536307 Free PMC article.

6

Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies).

Ramsden SC, Davidson AE, Leroy BP, Moore AT, Webster AR, Black GC, Manson FD. Ramsden SC, et al. Eur J Hum Genet. 2012 May;20(5). doi: 10.1038/ejhg.2011.251. Epub 2012 Jan 11. Eur J Hum Genet. 2012. PMID: 22234150 Free PMC article. No abstract available.

7

A paradigm shift in the delivery of services for diagnosis of inherited retinal disease.

O'Sullivan J, Mullaney BG, Bhaskar SS, Dickerson JE, Hall G, O'Grady A, Webster A, Ramsden SC, Black GC. O'Sullivan J, et al. Among authors: ramsden sc. J Med Genet. 2012 May;49(5):322-6. doi: 10.1136/jmedgenet-2012-100847. J Med Genet. 2012. PMID: 22581970

8

Next-generation sequencing in health-care delivery: lessons from the functional analysis of rhodopsin.

Davies WI, Downes SM, Fu JK, Shanks ME, Copley RR, Lise S, Ramsden SC, Black GC, Gibson K, Foster RG, Hankins MW, Németh AH. Davies WI, et al. Among authors: ramsden sc. Genet Med. 2012 Nov;14(11):891-9. doi: 10.1038/gim.2012.73. Epub 2012 Jul 12. Genet Med. 2012. PMID: 22791210 Free article.

9

Understanding the impact of genetic testing for inherited retinal dystrophy.

Combs R, McAllister M, Payne K, Lowndes J, Devery S, Webster AR, Downes SM, Moore AT, Ramsden S, Black G, Hall G. Combs R, et al. Among authors: ramsden s. Eur J Hum Genet. 2013 Nov;21(11):1209-13. doi: 10.1038/ejhg.2013.19. Epub 2013 Feb 13. Eur J Hum Genet. 2013. PMID: 23403902 Free PMC article.

10

Understanding the expectations of patients with inherited retinal dystrophies.

Combs R, Hall G, Payne K, Lowndes J, Devery S, Downes SM, Moore AT, Ramsden S, Black GC, McAllister M. Combs R, et al. Among authors: ramsden s. Br J Ophthalmol. 2013 Aug;97(8):1057-61. doi: 10.1136/bjophthalmol-2012-302911. Epub 2013 Jun 5. Br J Ophthalmol. 2013. PMID: 23740962

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