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Results: 11

1.

Congenital glaucoma in Wagner syndrome.

Jewsbury H, Fry AE, Watts P, Nas V, Morgan J.

J AAPOS. 2014 Jun;18(3):291-3. doi: 10.1016/j.jaapos.2013.12.014. Epub 2014 Apr 24.

PMID:
24767812
2.

A family with Wagner syndrome with uveitis and a new versican mutation.

Rothschild PR, Brézin AP, Nedelec B, Burin des Roziers C, Ghiotti T, Orhant L, Boimard M, Valleix S.

Mol Vis. 2013 Sep 26;19:2040-9. eCollection 2013.

3.

De novo splice mutation in the versican gene in a family with Wagner syndrome.

Rothschild PR, Audo I, Nedelec B, Ghiotti T, Brézin AP, Monin C, Valleix S.

JAMA Ophthalmol. 2013 Jun;131(6):805-7. doi: 10.1001/jamaophthalmol.2013.681. No abstract available.

PMID:
23571384
4.

Targeted sequencing of 179 genes associated with hereditary retinal dystrophies and 10 candidate genes identifies novel and known mutations in patients with various retinal diseases.

Chen X, Zhao K, Sheng X, Li Y, Gao X, Zhang X, Kang X, Pan X, Liu Y, Jiang C, Shi H, Chen X, Rong W, Chen LJ, Lai TY, Liu Y, Wang X, Yuan S, Liu Q, Vollrath D, Pang CP, Zhao C.

Invest Ophthalmol Vis Sci. 2013 Mar 1;54(3):2186-97. doi: 10.1167/iovs.12-10967.

PMID:
23462753
5.

Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome.

Kloeckener-Gruissem B, Neidhardt J, Magyar I, Plauchu H, Zech JC, Morlé L, Palmer-Smith SM, Macdonald MJ, Nas V, Fry AE, Berger W.

Eur J Hum Genet. 2013 Mar;21(3):352-6. doi: 10.1038/ejhg.2012.137. Epub 2012 Jun 27.

6.

A new VCAN/versican splice acceptor site mutation in a French Wagner family associated with vascular and inflammatory ocular features.

Brézin AP, Nedelec B, Barjol A, Rothschild PR, Delpech M, Valleix S.

Mol Vis. 2011;17:1669-78. Epub 2011 Jun 22.

7.

Mutational hot spot potential of a novel base pair mutation of the CSPG2 gene in a family with Wagner syndrome.

Ronan SM, Tran-Viet KN, Burner EL, Metlapally R, Toth CA, Young TL.

Arch Ophthalmol. 2009 Nov;127(11):1511-9. doi: 10.1001/archophthalmol.2009.273.

8.

Clinical features of the congenital vitreoretinopathies.

Edwards AO.

Eye (Lond). 2008 Oct;22(10):1233-42. doi: 10.1038/eye.2008.38. Epub 2008 Feb 29. Review.

PMID:
18309337
9.

Clinical characterisation and molecular analysis of Wagner syndrome.

Meredith SP, Richards AJ, Flanagan DW, Scott JD, Poulson AV, Snead MP.

Br J Ophthalmol. 2007 May;91(5):655-9. Epub 2006 Oct 11.

10.

Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants.

Mukhopadhyay A, Nikopoulos K, Maugeri A, de Brouwer AP, van Nouhuys CE, Boon CJ, Perveen R, Zegers HA, Wittebol-Post D, van den Biesen PR, van der Velde-Visser SD, Brunner HG, Black GC, Hoyng CB, Cremers FP.

Invest Ophthalmol Vis Sci. 2006 Aug;47(8):3565-72.

PMID:
16877430
11.

Identification of the genetic defect in the original Wagner syndrome family.

Kloeckener-Gruissem B, Bartholdi D, Abdou MT, Zimmermann DR, Berger W.

Mol Vis. 2006 Apr 17;12:350-5.

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