Hart-Holden N - Search Results

1

Severe retinal degeneration in women with a c.2543del mutation in ORF15 of the RPGR gene.

Kousal B, Skalicka P, Valesova L, Fletcher T, Hart-Holden N, O'Grady A, Chakarova CF, Michaelides M, Hardcastle AJ, Liskova P. Kousal B, et al. Among authors: hart holden n. Mol Vis. 2014 Sep 20;20:1307-17. eCollection 2014. Mol Vis. 2014. PMID: 25352739 Free PMC article.

2

A clinical molecular genetic service for United Kingdom families with choroideraemia.

Ramsden SC, O'Grady A, Fletcher T, O'Sullivan J, Hart-Holden N, Barton SJ, Hall G, Moore AT, Webster AR, Black GC. Ramsden SC, et al. Among authors: hart holden n. Eur J Med Genet. 2013 Aug;56(8):432-8. doi: 10.1016/j.ejmg.2013.06.003. Epub 2013 Jun 25. Eur J Med Genet. 2013. PMID: 23811034

3

A synonymous codon variant in two patients with autosomal recessive bestrophinopathy alters in vitro splicing of BEST1.

Davidson AE, Sergouniotis PI, Burgess-Mullan R, Hart-Holden N, Low S, Foster PJ, Manson FD, Black GC, Webster AR. Davidson AE, et al. Among authors: hart holden n. Mol Vis. 2010 Dec 31;16:2916-22. Mol Vis. 2010. PMID: 21203346 Free PMC article.

4

Molecular genetic cause of X-linked retinitis pigmentosa in a Czech family.

Liskova P, Colclough T, Hart-Holden N, Chakarova CF, O'Grady A, Kondrova L, Skalicka P, Diblik P, Hardcastle AJ. Liskova P, et al. Among authors: hart holden n. Acta Ophthalmol. 2011 Mar;89(2):e213-5. doi: 10.1111/j.1755-3768.2009.01802.x. Acta Ophthalmol. 2011. PMID: 20064120 Free article. No abstract available.

5

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: hart holden n. Hum Mutat. 2007 Apr;28(4):322-8. doi: 10.1002/humu.20461. Hum Mutat. 2007. PMID: 17195164

6

Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).

Yardley J, Leroy BP, Hart-Holden N, Lafaut BA, Loeys B, Messiaen LM, Perveen R, Reddy MA, Bhattacharya SS, Traboulsi E, Baralle D, De Laey JJ, Puech B, Kestelyn P, Moore AT, Manson FD, Black GC. Yardley J, et al. Among authors: hart holden n. Invest Ophthalmol Vis Sci. 2004 Oct;45(10):3683-9. doi: 10.1167/iovs.04-0550. Invest Ophthalmol Vis Sci. 2004. PMID: 15452077

7

Genetic analysis of mitochondrial complex II subunits SDHD, SDHB and SDHC in paraganglioma and phaeochromocytoma susceptibility.

Astuti D, Hart-Holden N, Latif F, Lalloo F, Black GC, Lim C, Moran A, Grossman AB, Hodgson SV, Freemont A, Ramsden R, Eng C, Evans DG, Maher ER. Astuti D, et al. Among authors: hart holden n. Clin Endocrinol (Oxf). 2003 Dec;59(6):728-33. doi: 10.1046/j.1365-2265.2003.01914.x. Clin Endocrinol (Oxf). 2003. PMID: 14974914

8

Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy.

Biswas S, Munier FL, Yardley J, Hart-Holden N, Perveen R, Cousin P, Sutphin JE, Noble B, Batterbury M, Kielty C, Hackett A, Bonshek R, Ridgway A, McLeod D, Sheffield VC, Stone EM, Schorderet DF, Black GC. Biswas S, et al. Among authors: hart holden n. Hum Mol Genet. 2001 Oct 1;10(21):2415-23. doi: 10.1093/hmg/10.21.2415. Hum Mol Genet. 2001. PMID: 11689488

9

Refined genetic and physical localization of the Wagner disease (WGN1) locus and the genes CRTL1 and CSPG2 to a 2- to 2.5-cM region of chromosome 5q14.3.

Perveen R, Hart-Holden N, Dixon MJ, Wiszniewski W, Fryer AE, Brunner HG, Pinkners AJ, van Beersum SE, Black GC. Perveen R, et al. Among authors: hart holden n. Genomics. 1999 Apr 15;57(2):219-26. doi: 10.1006/geno.1999.5766. Genomics. 1999. PMID: 10198161

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