Scott JD - Search Results

1

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

2

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. 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

3

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

4

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.

5

Prevention of retinal detachment in Stickler syndrome: the Cambridge prophylactic cryotherapy protocol.

Fincham GS, Pasea L, Carroll C, McNinch AM, Poulson AV, Richards AJ, Scott JD, Snead MP. Fincham GS, et al. Among authors: scott jd. Ophthalmology. 2014 Aug;121(8):1588-97. doi: 10.1016/j.ophtha.2014.02.022. Epub 2014 May 1. Ophthalmology. 2014. PMID: 24793526 Free article.

6

Stickler syndrome type 2 and linkage to the COL11A1 gene.

Snead MP, Yates JR, Williams R, Payne SJ, Pope FM, Scott JD. Snead MP, et al. Among authors: scott jd. Ann N Y Acad Sci. 1996 Jun 8;785:331-2. doi: 10.1111/j.1749-6632.1996.tb56300.x. Ann N Y Acad Sci. 1996. PMID: 8702171 No abstract available.

7

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: scott jd. Hum Mol Genet. 1996 Sep;5(9):1339-43. doi: 10.1093/hmg/5.9.1339. Hum Mol Genet. 1996. PMID: 8872475

8

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: scott jd. Eur J Hum Genet. 1999 Oct-Nov;7(7):807-14. doi: 10.1038/sj.ejhg.5200377. Eur J Hum Genet. 1999. PMID: 10573014

9

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.

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: 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.

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