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Items: 1 to 20 of 60

1.

WAGNER syndrome: anatomic, functional and genetic characterization of a Portuguese family.

Araújo JR, Tavares-Ferreira J, Estrela-Silva S, Rocha P, Brandão E, Faria PA, Falcão-Reis F, Rocha-Sousa A.

Graefes Arch Clin Exp Ophthalmol. 2018 Jan;256(1):163-171. doi: 10.1007/s00417-017-3800-0. Epub 2017 Oct 25.

PMID:
29071374
2.

Deletions Overlapping VCAN Exon 8 Are New Molecular Defects for Wagner Disease.

Burin-des-Roziers C, Rothschild PR, Layet V, Chen JM, Ghiotti T, Leroux C, Cremers FP, Brézin AP, Valleix S.

Hum Mutat. 2017 Jan;38(1):43-47. doi: 10.1002/humu.23124. Epub 2016 Nov 23.

PMID:
27667122
3.

Multimodal Imaging in Wagner Syndrome.

Thomas AS, Branham K, Van Gelder RN, Daiger SP, Sullivan LS, Bowne SJ, Heckenlively JR, Pennesi ME.

Ophthalmic Surg Lasers Imaging Retina. 2016 Jun 1;47(6):574-9. doi: 10.3928/23258160-20160601-10.

4.

Spectral-Domain Optical Coherence Tomography in Wagner Syndrome: Characterization of Vitreoretinal Interface and Foveal Changes.

Rothschild PR, Burin-des-Roziers C, Audo I, Nedelec B, Valleix S, Brézin AP.

Am J Ophthalmol. 2015 Nov;160(5):1065-1072.e1. doi: 10.1016/j.ajo.2015.08.012. Epub 2015 Aug 15.

PMID:
26284746
5.

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
6.

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.

7.

Mutation in collagen II alpha 1 isoforms delineates Stickler and Wagner syndrome phenotypes.

Tran-Viet KN, Soler V, Quiette V, Powell C, Yanovitch T, Metlapally R, Luo X, Katsanis N, Nading E, Young TL.

Mol Vis. 2013 Apr 5;19:759-66. Print 2013.

8.

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
9.

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.

10.

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.

11.

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
12.

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.

13.

Identification of a novel splice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome.

Miyamoto T, Inoue H, Sakamoto Y, Kudo E, Naito T, Mikawa T, Mikawa Y, Isashiki Y, Osabe D, Shinohara S, Shiota H, Itakura M.

Invest Ophthalmol Vis Sci. 2005 Aug;46(8):2726-35.

PMID:
16043844
14.

Synovial osteochondromatosis in hereditary arthro-ophthalmopathy (Wagner-Stickler syndrome).

Tins B, Cassar-Pullicino V.

Skeletal Radiol. 2003 May;32(5):302-5. Epub 2003 Mar 20.

PMID:
12719932
15.
16.

A frame shift mutation in a tissue-specific alternatively spliced exon of collagen 2A1 in Wagner's vitreoretinal degeneration.

Snead M, Richards A.

Am J Ophthalmol. 2002 Sep;134(3):473; author reply 473-4. No abstract available.

PMID:
12208278
17.

A case of erosive vitreoretinopathy.

Kyung SE, Chang MH, Ji JY.

Korean J Ophthalmol. 2002 Jun;16(1):47-51.

18.

A frame shift mutation in a tissue-specific alternatively spliced exon of collagen 2A1 in Wagner's vitreoretinal degeneration.

Gupta SK, Leonard BC, Damji KF, Bulman DE.

Am J Ophthalmol. 2002 Feb;133(2):203-10.

PMID:
11812423
19.

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.

Br J Ophthalmol. 2000 Apr;84(4):364-71.

20.

Wagner vitreoretinal degeneration with genetic linkage refinement on chromosome 5q13-q14.

Zech JC, Morlé L, Vincent P, Alloisio N, Bozon M, Gonnet C, Milazzo S, Grange JD, Trepsat C, Godet J, Plauchu H.

Graefes Arch Clin Exp Ophthalmol. 1999 May;237(5):387-93.

PMID:
10333105

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