Richards AJ - Search Results

1

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: richards aj. Eye (Lond). 2002 Jul;16(4):447-53. doi: 10.1038/sj.eye.6700198. Eye (Lond). 2002. PMID: 12101452

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

3

A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British families.

Burrows NP, Nicholls AC, Richards AJ, Luccarini C, Harrison JB, Yates JR, Pope FM. Burrows NP, et al. Among authors: richards aj. Am J Hum Genet. 1998 Aug;63(2):390-8. doi: 10.1086/301948. Am J Hum Genet. 1998. PMID: 9683580 Free PMC article.

4

A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II.

Richards AJ, Martin S, Nicholls AC, Harrison JB, Pope FM, Burrows NP. Richards AJ, et al. J Med Genet. 1998 Oct;35(10):846-8. doi: 10.1136/jmg.35.10.846. J Med Genet. 1998. PMID: 9783710 Free PMC article.

5

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

6

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. 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.

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. 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

Molecular genetics of rhegmatogenous retinal detachment.

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

9

Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type II collagenopathy resulting from a novel mutation in the C-propeptide region of the molecule.

Richards AJ, Morgan J, Bearcroft PW, Pickering E, Owen MJ, Holmans P, Williams N, Tysoe C, Pope FM, Snead MP, Hughes H. Richards AJ, et al. J Med Genet. 2002 Sep;39(9):661-5. doi: 10.1136/jmg.39.9.661. J Med Genet. 2002. PMID: 12205109 Free PMC article.

10

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.

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