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Cambridge Prophylactic Protocol, Retinal Detachment, and Stickler Syndrome.
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.
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: fincham gs.
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.
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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.
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.
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Posterior Vitreous Detachment and the Posterior Hyaloid Membrane.
Fincham GS, James S, Spickett C, Hollingshead M, Thrasivoulou C, Poulson AV, McNinch A, Richards A, Snead D, Limb GA, Snead MP.
Fincham GS, et al.
Ophthalmology. 2018 Feb;125(2):227-236. doi: 10.1016/j.ophtha.2017.08.001. Epub 2017 Sep 1.
Ophthalmology. 2018.
PMID: 28867131
Free article.
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Auditory dysfunction in type 2 Stickler Syndrome.
Alexander P, Gomersall P, Stancel-Lewis J, Fincham GS, Poulson A, Richards A, McNinch A, Baguley DM, Snead M.
Alexander P, et al. Among authors: fincham gs.
Eur Arch Otorhinolaryngol. 2021 Jul;278(7):2261-2268. doi: 10.1007/s00405-020-06306-y. Epub 2020 Sep 8.
Eur Arch Otorhinolaryngol. 2021.
PMID: 32901364
Free PMC article.
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Ophthalmic and molecular genetic findings in Kniest dysplasia.
Sergouniotis PI, Fincham GS, McNinch AM, Spickett C, Poulson AV, Richards AJ, Snead MP.
Sergouniotis PI, et al. Among authors: fincham gs.
Eye (Lond). 2015 Apr;29(4):475-82. doi: 10.1038/eye.2014.334. Epub 2015 Jan 16.
Eye (Lond). 2015.
PMID: 25592122
Free PMC article.
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Deep Intronic Sequence Variants in COL2A1 Affect the Alternative Splicing Efficiency of Exon 2, and May Confer a Risk for Rhegmatogenous Retinal Detachment.
Spickett C, Hysi P, Hammond CJ, Prescott A, Fincham GS, Poulson AV, McNinch AM, Richards AJ, Snead MP.
Spickett C, et al. Among authors: fincham gs.
Hum Mutat. 2016 Oct;37(10):1085-96. doi: 10.1002/humu.23050. Epub 2016 Aug 21.
Hum Mutat. 2016.
PMID: 27406592
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Deletions within COL11A1 in Type 2 stickler syndrome detected by multiplex ligation-dependent probe amplification (MLPA).
Vijzelaar R, Waller S, Errami A, Donaldson A, Lourenco T, Rodrigues M, McConnell V, Fincham G, Snead M, Richards A.
Vijzelaar R, et al.
BMC Med Genet. 2013 Apr 26;14:48. doi: 10.1186/1471-2350-14-48.
BMC Med Genet. 2013.
PMID: 23621912
Free PMC article.
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