Snead MP - Search Results

1

Cambridge Prophylactic Protocol, Retinal Detachment, and Stickler Syndrome.

Alexander P, Fincham GS, Brown S, Collins D, McNinch AM, Poulson AV, Richards A, Martin H, Wareham N, Snead MP. Alexander P, et al. Among authors: snead mp. N Engl J Med. 2023 Apr 6;388(14):1337-1339. doi: 10.1056/NEJMc2211320. N Engl J Med. 2023. PMID: 37018499 No abstract available.

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

Clinical, histological and ultrastructural studies of the posterior hyaloid membrane.

Snead MP, Snead DR, Richards AJ, Harrison JB, Poulson AV, Morris AH, Sheard RM, Scott JD. Snead MP, et al. Among authors: snead dr. Eye (Lond). 2002 Jul;16(4):447-53. doi: 10.1038/sj.eye.6700198. Eye (Lond). 2002. PMID: 12101452

8

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.

9

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

10

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.

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