Snead MP - Search Results

1

Genome-wide association study identifies genetic risk underlying primary rhegmatogenous retinal detachment.

Kirin M, Chandra A, Charteris DG, Hayward C, Campbell S, Celap I, Bencic G, Vatavuk Z, Kirac I, Richards AJ, Tenesa A, Snead MP, Fleck BW, Singh J, Harsum S, Maclaren RE, den Hollander AI, Dunlop MG, Hoyng CB, Wright AF, Campbell H, Vitart V, Mitry D. Kirin M, et al. Among authors: snead mp. Hum Mol Genet. 2013 Aug 1;22(15):3174-85. doi: 10.1093/hmg/ddt169. Epub 2013 Apr 11. Hum Mol Genet. 2013. PMID: 23585552

2

A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen.

Richards AJ, Yates JR, Williams R, Payne SJ, Pope FM, Scott JD, Snead MP. Richards AJ, et al. Among authors: snead mp. Hum Mol Genet. 1996 Sep;5(9):1339-43. doi: 10.1093/hmg/5.9.1339. Hum Mol Genet. 1996. PMID: 8872475

3

Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneity.

Martin S, Richards AJ, Yates JR, Scott JD, Pope M, Snead MP. Martin S, et al. Among authors: snead mp. Eur J Hum Genet. 1999 Oct-Nov;7(7):807-14. doi: 10.1038/sj.ejhg.5200377. Eur J Hum Genet. 1999. PMID: 10573014

4

COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes.

Richards AJ, Martin S, Yates JR, Scott JD, Baguley DM, Pope FM, Snead MP. Richards AJ, et al. Among authors: snead mp. Br J Ophthalmol. 2000 Apr;84(4):364-71. doi: 10.1136/bjo.84.4.364. Br J Ophthalmol. 2000. PMID: 10729292 Free PMC article.

5

Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helix.

Richards AJ, Baguley DM, Yates JR, Lane C, Nicol M, Harper PS, Scott JD, Snead MP. Richards AJ, et al. Among authors: snead mp. Am J Hum Genet. 2000 Nov;67(5):1083-94. doi: 10.1016/S0002-9297(07)62938-3. Epub 2000 Sep 25. Am J Hum Genet. 2000. PMID: 11007540 Free PMC article.

6

Molecular genetics of rhegmatogenous retinal detachment.

Richards AJ, Scott JD, Snead MP. Richards AJ, et al. Among authors: snead mp. Eye (Lond). 2002 Jul;16(4):388-92. doi: 10.1038/sj.eye.6700195. Eye (Lond). 2002. PMID: 12101445 Review.

7

A frame shift mutation in a tissue-specific alternatively spliced exon of collagen 2A1 in Wagner's vitreoretinal degeneration.

Snead M, Richards A. Snead M, et al. Am J Ophthalmol. 2002 Sep;134(3):473; author reply 473-4. doi: 10.1016/s0002-9394(02)01635-5. Am J Ophthalmol. 2002. PMID: 12208278 No abstract available.

8

Prevalence of mitral valve prolapse in Stickler syndrome.

Ahmad N, Richards AJ, Murfett HC, Shapiro L, Scott JD, Yates JR, Norton J, Snead MP. Ahmad N, et al. Among authors: snead mp. Am J Med Genet A. 2003 Jan 30;116A(3):234-7. doi: 10.1002/ajmg.a.10619. Am J Med Genet A. 2003. PMID: 12503098

9

Clinical features of type 2 Stickler syndrome.

Poulson AV, Hooymans JM, Richards AJ, Bearcroft P, Murthy R, Baguley DM, Scott JD, Snead MP. Poulson AV, et al. Among authors: snead mp. J Med Genet. 2004 Aug;41(8):e107. doi: 10.1136/jmg.2004.018382. J Med Genet. 2004. PMID: 15286167 Free PMC article. No abstract available.

10

Clinical features and surgical management of retinal detachment secondary to round retinal holes.

Ung T, Comer MB, Ang AJ, Sheard R, Lee C, Poulson AV, Newman DK, Scott JD, Richards AJ, Snead MP. Ung T, et al. Among authors: snead mp. Eye (Lond). 2005 Jun;19(6):665-9. doi: 10.1038/sj.eye.6701618. Eye (Lond). 2005. PMID: 15359254

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