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Martin Snead

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TOP 3
Sonali Nagendran; Allan J Richards; Richard N Sandford; Annie McNinch; Martin P Snead
Somatic mosaicism and the phenotypic expression of COL2A1 mutations.
Allan J Richards; Annie McNinch; Kim Oakhill; Arabella V Poulson; Becky Treacy; Joanne Whittaker; Martin P Snead
Splicing analysis of unclassified variants in COL2A1 and COL11A1 identifies deep intronic pathogenic mutations.
Martin P Snead; B Silverman; P W P Bearcroft; P Gomersall; A M McNinch; V Parfect; Arabella V Poulson; Allan J Richards
Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist.

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All Publications

2012: Sonali Nagendran; Allan J Richards; Richard N Sandford; Annie McNinch; Martin P Snead
Somatic mosaicism and the phenotypic expression of COL2A1 mutations.
American journal of medical genetics. Part A 2012;158A(5):1204-7.
2012: Allan J Richards; Annie McNinch; Kim Oakhill; Arabella V Poulson; Becky Treacy; Joanne Whittaker; Martin P Snead
Splicing analysis of unclassified variants in COL2A1 and COL11A1 identifies deep intronic pathogenic mutations.
European journal of human genetics : EJHG 2012;20(5):552-8.
2011: Martin P Snead; B Silverman; P W P Bearcroft; P Gomersall; A M McNinch; V Parfect; Arabella V Poulson; Allan J Richards
Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist.
Eye (London, England) 2011;25(11):1389-400.
2010: Allan J Richards; Annie McNinch; Howard Martin; Kim Oakhill; Harjeet Rai; Sarah Waller; Becky Treacy; Joanne Whittaker; Sarah Meredith; Arabella V Poulson; Martin P Snead
Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1.
Human mutation 2010;31(6):E1461-71.
2008: Martin P Snead; D R J Snead; S James; Allan J Richards
Clinicopathological changes at the vitreoretinal junction: posterior vitreous detachment.
Eye (London, England) 2008;22(10):1257-62.
2008: Allan J Richards; Martin P Snead
The influence of pre-mRNA splicing on phenotypic modification in Stickler's syndrome and other type II collagenopathies.
Eye (London, England) 2008;22(10):1243-50.
2008: P Alexander; R Prasad; Alan Ang; Arabella V Poulson; John D Scott; Martin P Snead
Prevention and control of proliferative vitreoretinopathy: primary retinal detachment surgery using silicone oil as a planned two-stage procedure in high-risk cases.
Eye (London, England) 2008;22(6):815-8.
2008: P Alexander; Alan Ang; Arabella V Poulson; Martin P Snead
Scleral buckling combined with vitrectomy for the management of rhegmatogenous retinal detachment associated with inferior retinal breaks.
Eye (London, England) 2008;22(2):200-3.
2008: Alan Ang; Arabella V Poulson; Sandy F Goodburn; Allan J Richards; John D Scott; Martin P Snead
Retinal detachment and prophylaxis in type 1 Stickler syndrome.
Ophthalmology 2008;115(1):164-8.
2007: Sarah P Meredith; Allan J Richards; P W P Bearcroft; Arabella V Pouson; Martin P Snead
Significant ocular findings are a feature of heritable bone dysplasias resulting from defects in type II collagen.
The British journal of ophthalmology 2007;91(9):1148-51.
2007: Pallavi Shankar; Steven Bradshaw; Alan Ang; I G Rennie; D R J Snead; Martin P Snead
Vascularised epiretinal membrane associated with vasoproliferative tumour.
Eye (London, England) 2007;21(7):1003-4.
2007: Allan J Richards; Maureen Laidlaw; Sarah P Meredith; Pallavi Shankar; Arabella V Poulson; John D Scott; Martin P Snead
Missense and silent mutations in COL2A1 result in Stickler syndrome but via different molecular mechanisms.
Human mutation 2007;28(6):639.
2007: Sarah P Meredith; Allan J Richards; Declan W Flanagan; John D Scott; Arabella V Poulson; Martin P Snead
Clinical characterisation and molecular analysis of Wagner syndrome.
The British journal of ophthalmology 2007;91(5):655-9.
2006: M E MacRae; D V Patel; Allan J Richards; Martin P Snead; J Tolmie; W R Lee
Type 1 Stickler syndrome: a histological and ultrastructural study of an untreated globe.
Eye (London, England) 2006;20(9):1061-7.
2006: Allan J Richards; Maureen Laidlaw; Joanne Whittaker; Becky Treacy; Harjeet Rai; P W P Bearcroft; David M Baguley; Arabella V Poulson; Alan Ang; John D Scott; Martin P Snead
High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1.
Human mutation 2006;27(7):696-704.
2006: Alan Ang; D R J Snead; S James; Y C Yeo; K Satchi; Andrew Harold Clarence Morris; Arabella V Poulson; John D Scott; Martin P Snead
A rationale for membrane peeling in the repair of stage 4 macular holes.
Eye (London, England) 2006;20(2):208-14.
2005: T Ung; Marie B Comer; Alan Ang; Richard M Sheard; C Lee; Arabella V Poulson; DK Newman; John D Scott; Allan J Richards; Martin P Snead
Clinical features and surgical management of retinal detachment secondary to round retinal holes.
Eye (London, England) 2005;19(6):665-9.
2005: Allan J Richards; Sarah P Meredith; Arabella V Poulson; P W P Bearcroft; Graeme Crossland; David M Baguley; John D Scott; Martin P Snead
A novel mutation of COL2A1 resulting in dominantly inherited rhegmatogenous retinal detachment.
Investigative ophthalmology & visual science 2005;46(2):663-8.
2004: P K F Addison; D R J Snead; Martin P Snead
Radiation retinopathy secondary to radiotherapy for a lower lid BCC.
Eye (London, England) 2004;18(12):1273-4.
2004: Arabella V Poulson; D R J Snead; P M Jacobs; N Ahmad; Martin P Snead
Intraocular surgery for optic nerve disorders.
Eye (London, England) 2004;18(11):1056-65.
2004: D R J Snead; N Cullen; S James; Arabella V Poulson; Andrew Harold Clarence Morris; Andrew Lukaris; John D Scott; Allan J Richards; Martin P Snead
Hyperconvolution of the inner limiting membrane in vitreomaculopathies.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv für klinische und experimentelle Ophthalmologie 2004;242(10):853-62.
2004: Arabella V Poulson; Johanna M M Hooymans; Allan J Richards; P W P Bearcroft; R Murthy; David M Baguley; John D Scott; Martin P Snead
Clinical features of type 2 Stickler syndrome.
Journal of medical genetics 2004;41(8):e107.
2003: Richard M Sheard; Sandy F Goodburn; Marie B Comer; John D Scott; Martin P Snead
Posterior vitreous detachment after neodymium:YAG laser posterior capsulotomy.
Journal of cataract and refractive surgery 2003;29(5):930-4.
2003: Nadeem Ahmad; Allan J Richards; Helen C Murfett; Leonard Shapiro; John D Scott; John R W Yates; Joanne Norton; Martin P Snead
Prevalence of mitral valve prolapse in Stickler syndrome.
American journal of medical genetics. Part A 2003;116A(3):234-7.
2002: Allan J Richards; J Morgan; P W P Bearcroft; E Pickering; Michael J Owen; P Holmans; N Williams; C Tysoe; F Michael Pope; Martin P Snead; H Hughes
Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type II collagenopathy resulting from a novel mutation in the C-propeptide region of the molecule.
Journal of medical genetics 2002;39(9):661-5.
2002: D V Patel; Martin P Snead; K Satchi
Retinal arteriolar calcification in a patient with chronic renal failure.
The British journal of ophthalmology 2002;86(9):1063.
2002: Martin P Snead; D R J Snead; Allan J Richards; JB Harrison; Arabella V Poulson; Andrew Harold Clarence Morris; Richard M Sheard; John D Scott
Clinical, histological and ultrastructural studies of the posterior hyaloid membrane.
Eye (London, England) 2002;16(4):447-53.
2002: Allan J Richards; John D Scott; Martin P Snead
Molecular genetics of rhegmatogenous retinal detachment.
Eye (London, England) 2002;16(4):388-92.
2002: Richard M Sheard; F Michael Pope; Martin P Snead
A novel ophthalmic presentation of the Proteus syndrome.
Ophthalmology 2002;109(6):1192-5.
2001: Richard M Sheard; Martin P Snead
Proteus Syndrome associated with ocular anomalies.
Eye (London, England) 2001;15(Pt 5):690-1.
2001: Timothy L Jackson; M Thiagarajan; R Murthy; Martin P Snead; D Wong; Tom H Williamson
Pupil block glaucoma in phakic and pseudophakic patients after vitrectomy with silicone oil injection.
American journal of ophthalmology 2001;132(3):414-6.
2001: C A Rennie; DK Newman; Martin P Snead; Declan W Flanagan
Nd:YAG laser treatment for premacular subhyaloid haemorrhage.
Eye (London, England) 2001;15(Pt 4):519-24.
2000: Allan J Richards; David M Baguley; J R W Yates; C Lane; M Nicol; P S Harper; John D Scott; Martin P Snead
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.
American journal of human genetics 2000;67(5):1083-94.
2000: Allan J Richards; S Martin; J R W Yates; John D Scott; David M Baguley; F Michael Pope; Martin P Snead
COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes.
The British journal of ophthalmology 2000;84(4):364-71.
1999: S Martin; Allan J Richards; J R W Yates; John D Scott; M Pope; Martin P Snead
Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneity.
European journal of human genetics : EJHG 1999;7(7):807-14.
1999: Martin P Snead; J R W Yates
Clinical and Molecular genetics of Stickler syndrome.
Journal of medical genetics 1999;36(5):353-9.
1996: Allan J Richards; J R W Yates; R Williams; S J Payne; F Michael Pope; John D Scott; Martin P Snead
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.
Human molecular genetics 1996;5(9):1339-43.
1996: Martin P Snead; J R W Yates; R Williams; S J Payne; F Michael Pope; J D Scott
Stickler syndrome type 2 and linkage to the COL11A1 gene.
Annals of the New York Academy of Sciences 1996;785():331-2.
1994: Martin P Snead; D R Snead; A S Mahmood; J D Scott
Vitreous detachment and the posterior hyaloid membrane: a clinicopathological study.
Eye (London, England) 1994;8 ( Pt 2)():204-9.
1994: Martin P Snead; S J Payne; David Barton; J R W Yates; L al-Imara; F Michael Pope; J D Scott
Stickler syndrome: correlation between vitreoretinal phenotypes and linkage to COL 2A1.
Eye (London, England) 1994;8 ( Pt 6)():609-14.
1994: C K Chee; Martin P Snead; J D Scott
Cyclocryotherapy for chronic glaucoma after vitreoretinal surgery.
Eye (London, England) 1994;8 ( Pt 4)():414-8.