O'Grady A - Search Results

1

Establishment of the first WHO international genetic reference panel for Prader Willi and Angelman syndromes.

Boyle J, Hawkins M, Barton DE, Meaney K, Guitart M, O'Grady A, Tobi S, Ramsden SC, Elles R, Gray E, Metcalfe P, Hawkins JR. Boyle J, et al. Eur J Hum Genet. 2011 Aug;19(8):857-64. doi: 10.1038/ejhg.2011.59. Epub 2011 May 18. Eur J Hum Genet. 2011. PMID: 21587322 Free PMC article.

2

Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome.

Hawkins M, Boyle J, Wright KE, Elles R, Ramsden SC, O'Grady A, Sweeney M, Barton DE, Burgess T, Moore M, Burns C, Stacey G, Gray E, Metcalfe P, Hawkins JR. Hawkins M, et al. Eur J Hum Genet. 2011 Jan;19(1):10-7. doi: 10.1038/ejhg.2010.135. Epub 2010 Aug 25. Eur J Hum Genet. 2011. PMID: 20736975 Free PMC article.

3

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. J Med Genet. 2012 May;49(5):322-6. doi: 10.1136/jmedgenet-2012-100847. J Med Genet. 2012. PMID: 22581970

4

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. 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

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

6

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. Mol Vis. 2014 Sep 20;20:1307-17. eCollection 2014. Mol Vis. 2014. PMID: 25352739 Free PMC article.

7

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. 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.

8

Phenotypic progression in X-linked retinitis pigmentosa secondary to a novel mutation in the RPGR gene.

Al-Maskari A, O'grady A, Pal B, McKibbin M. Al-Maskari A, et al. Eye (Lond). 2009 Mar;23(3):519-21. doi: 10.1038/eye.2008.427. Epub 2009 Feb 13. Eye (Lond). 2009. PMID: 19218993

9

Role of the insulin-like growth factor 1 axis and visceral adiposity in oesophageal adenocarcinoma.

Donohoe CL, Doyle SL, McGarrigle S, Cathcart MC, Daly E, O'Grady A, Lysaght J, Pidgeon GP, Reynolds JV. Donohoe CL, et al. Br J Surg. 2012 Mar;99(3):387-96. doi: 10.1002/bjs.8658. Epub 2012 Jan 12. Br J Surg. 2012. PMID: 22241325

10

Dermatitis herpetiformis: no evidence of bone disease despite evidence of enteropathy.

Abuzakouk M, Barnes L, O'Gorman N, O'Grady A, Mohamed B, McKenna MJ, Freaney R, Feighery C. Abuzakouk M, et al. Dig Dis Sci. 2007 Mar;52(3):659-64. doi: 10.1007/s10620-006-9576-4. Dig Dis Sci. 2007. PMID: 17253133

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