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Items: 1 to 20 of 31

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.

Versican and the control of inflammation.

Wight TN, Kang I, Merrilees MJ.

Matrix Biol. 2014 Apr;35:152-61. doi: 10.1016/j.matbio.2014.01.015. Epub 2014 Feb 7. Review.

3.

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.

4.

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
5.

Roles of versican in cancer biology--tumorigenesis, progression and metastasis.

Du WW, Yang W, Yee AJ.

Histol Histopathol. 2013 Jun;28(6):701-13. doi: 10.14670/HH-28.701. Epub 2013 Mar 22. Review.

PMID:
23519970
6.

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
7.

Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration.

Mahajan VB, Skeie JM, Bassuk AG, Fingert JH, Braun TA, Daggett HT, Folk JC, Sheffield VC, Stone EM.

PLoS Genet. 2012;8(10):e1003001. doi: 10.1371/journal.pgen.1003001. Epub 2012 Oct 4.

8.

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.

9.

Familial retinoblastoma: fundus screening schedule impact and guideline proposal. A retrospective study.

Rothschild PR, Lévy D, Savignoni A, Lumbroso-Le Rouic L, Aerts I, Gauthier-Villars M, Esteve M, Bours D, Desjardins L, Doz F, Lévy-Gabriel C.

Eye (Lond). 2011 Dec;25(12):1555-61. doi: 10.1038/eye.2011.198. Epub 2011 Sep 16.

10.

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.

11.

Segmental versican expression in the trabecular meshwork and involvement in outflow facility.

Keller KE, Bradley JM, Vranka JA, Acott TS.

Invest Ophthalmol Vis Sci. 2011 Jul 7;52(8):5049-57. doi: 10.1167/iovs.10-6948.

12.

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.

13.

Central retinal artery occlusion following forehead injection with a corticosteroid suspension.

Edwards AO.

Pediatr Dermatol. 2008 Jul-Aug;25(4):460-1. doi: 10.1111/j.1525-1470.2008.00723.x.

PMID:
18789088
14.

Phenotypic variation in enhanced S-cone syndrome.

Audo I, Michaelides M, Robson AG, Hawlina M, Vaclavik V, Sandbach JM, Neveu MM, Hogg CR, Hunt DM, Moore AT, Bird AC, Webster AR, Holder GE.

Invest Ophthalmol Vis Sci. 2008 May;49(5):2082-93. doi: 10.1167/iovs.05-1629.

PMID:
18436841
15.

CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene.

Keren B, Suzuki OT, Gérard-Blanluet M, Brémond-Gignac D, Elmaleh M, Titomanlio L, Delezoide AL, Passos-Bueno MR, Verloes A.

Am J Med Genet A. 2007 Jul 1;143A(13):1514-8. No abstract available.

PMID:
17546652
16.

Extracellular matrix gene alternative splicing by trabecular meshwork cells in response to mechanical stretching.

Keller KE, Kelley MJ, Acott TS.

Invest Ophthalmol Vis Sci. 2007 Mar;48(3):1164-72.

PMID:
17325160
17.

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.

18.

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
19.

Central cone dysfunction in autosomal dominant vitreoretino choroidopathy (ADVIRC).

Oh KT, Vallar C.

Am J Ophthalmol. 2006 May;141(5):940-3.

PMID:
16678511
20.

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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