Bearcroft P - Search Results

1

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: bearcroft p. Invest Ophthalmol Vis Sci. 2005 Feb;46(2):663-8. doi: 10.1167/iovs.04-1017. Invest Ophthalmol Vis Sci. 2005. PMID: 15671297

2

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. Among authors: bearcroft pw. 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.

3

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: bearcroft p. 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.

4

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: bearcroft p. Hum Mutat. 2006 Jul;27(7):696-704. doi: 10.1002/humu.20347. Hum Mutat. 2006. PMID: 16752401

5

Significant ocular findings are a feature of heritable bone dysplasias resulting from defects in type II collagen.

Meredith SP, Richards AJ, Bearcroft P, Pouson AV, Snead MP. Meredith SP, et al. Among authors: bearcroft p. Br J Ophthalmol. 2007 Sep;91(9):1148-51. doi: 10.1136/bjo.2006.112482. Epub 2007 Mar 8. Br J Ophthalmol. 2007. PMID: 17347327 Free PMC article.

6

Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist.

Snead MP, McNinch AM, Poulson AV, Bearcroft P, Silverman B, Gomersall P, Parfect V, Richards AJ. Snead MP, et al. Among authors: bearcroft p. Eye (Lond). 2011 Nov;25(11):1389-400. doi: 10.1038/eye.2011.201. Epub 2011 Sep 16. Eye (Lond). 2011. PMID: 21921955 Free PMC article. Review.

7

Stickler syndrome in children: a radiological review.

McArthur N, Rehm A, Shenker N, Richards AJ, McNinch AM, Poulson AV, Tanner J, Snead MP, Bearcroft PWP. McArthur N, et al. Among authors: bearcroft pwp. Clin Radiol. 2018 Jul;73(7):678.e13-678.e18. doi: 10.1016/j.crad.2018.03.004. Epub 2018 Apr 13. Clin Radiol. 2018. PMID: 29661559 Review.

8

Homozygous Type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome-Expanding the phenotype.

Nixon TRW, Alexander P, Richards A, McNinch A, Bearcroft PWP, Cobben J, Snead MP. Nixon TRW, et al. Among authors: bearcroft pwp. Am J Med Genet A. 2019 Aug;179(8):1498-1506. doi: 10.1002/ajmg.a.61191. Epub 2019 May 14. Am J Med Genet A. 2019. PMID: 31090205

9

Legg-Calve-Perthes' disease: an opportunity to prevent blindness?

Wang A, Nixon T, Martin H, Richards A, McNinch A, Alexander P, Pujari R, Bale P, Shenker N, Bearcroft P, Brown S, Blackwell A, Poulson A, Snead M. Wang A, et al. Among authors: bearcroft p. Arch Dis Child. 2023 Oct;108(10):789-791. doi: 10.1136/archdischild-2022-325059. Epub 2023 Mar 7. Arch Dis Child. 2023. PMID: 36882306 Review.

10

An unusual cause and presentation of a pelvic mass.

Harish S, Rehm A, Bearcroft PW. Harish S, et al. Among authors: bearcroft pw. Br J Radiol. 2006 Feb;79(938):177-8. doi: 10.1259/bjr/65970261. Br J Radiol. 2006. PMID: 16489204 No abstract available.

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