Scott J - Search Results

1

Vitreous phenotype: a key diagnostic sign in Stickler syndrome types 1 and 2 complicated by double heterozygosity.

Ang A, Ung T, Puvanachandra N, Wilson L, Howard F, Ryalls M, Richards A, Meredith S, Laidlaw M, Poulson A, Scott J, Snead M. Ang A, et al. Among authors: scott j. Am J Med Genet A. 2007 Mar 15;143A(6):604-7. doi: 10.1002/ajmg.a.31527. Am J Med Genet A. 2007. PMID: 17318849

2

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: scott jd. 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

3

High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1.

Richards AJ, Laidlaw M, Whittaker J, Treacy B, Rai H, Bearcroft P, Baguley DM, Poulson A, Ang A, Scott JD, Snead MP. Richards AJ, et al. Among authors: scott jd. Hum Mutat. 2006 Jul;27(7):696-704. doi: 10.1002/humu.20347. Hum Mutat. 2006. PMID: 16752401

4

Missense and silent mutations in COL2A1 result in Stickler syndrome but via different molecular mechanisms.

Richards AJ, Laidlaw M, Meredith SP, Shankar P, Poulson AV, Scott JD, Snead MP. Richards AJ, et al. Among authors: scott jd. Hum Mutat. 2007 Jun;28(6):639. doi: 10.1002/humu.9497. Hum Mutat. 2007. PMID: 17437277

5

Retinal detachment and prophylaxis in type 1 Stickler syndrome.

Ang A, Poulson AV, Goodburn SF, Richards AJ, Scott JD, Snead MP. Ang A, et al. Among authors: scott jd. Ophthalmology. 2008 Jan;115(1):164-8. doi: 10.1016/j.ophtha.2007.03.059. Epub 2007 Aug 2. Ophthalmology. 2008. PMID: 17675240

6

Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss.

Richards AJ, Fincham GS, McNinch A, Hill D, Poulson AV, Castle B, Lees MM, Moore AT, Scott JD, Snead MP. Richards AJ, et al. Among authors: scott jd. J Med Genet. 2013 Nov;50(11):765-71. doi: 10.1136/jmedgenet-2012-101499. Epub 2013 Aug 6. J Med Genet. 2013. PMID: 23922384 Free PMC article.

7

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: scott jd. 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.

8

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: scott jd. 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.

9

A novel mutation of COL2A1 resulting in dominantly inherited rhegmatogenous retinal detachment.

Richards AJ, Meredith S, Poulson A, Bearcroft P, Crossland G, Baguley DM, Scott JD, Snead MP. Richards AJ, et al. Among authors: scott jd. Invest Ophthalmol Vis Sci. 2005 Feb;46(2):663-8. doi: 10.1167/iovs.04-1017. Invest Ophthalmol Vis Sci. 2005. PMID: 15671297

10

Clinical characterisation and molecular analysis of Wagner syndrome.

Meredith SP, Richards AJ, Flanagan DW, Scott JD, Poulson AV, Snead MP. Meredith SP, et al. Among authors: scott jd. Br J Ophthalmol. 2007 May;91(5):655-9. doi: 10.1136/bjo.2006.104406. Epub 2006 Oct 11. Br J Ophthalmol. 2007. PMID: 17035272 Free PMC article.

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