| 1 |
Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome.
25
6
|
Kloeckener-Gruissem B...Berger W
|
22739342 |
2013 |
| 2 |
A new VCAN/versican splice acceptor site mutation in a French Wagner family associated with vascular and inflammatory ocular features.
6
25
|
Brezin AP...Valleix S
|
21738396 |
2011 |
| 3 |
Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants.
25
6
|
Mukhopadhyay A...Cremers FP
|
16877430 |
2006 |
| 4 |
Identification of the genetic defect in the original Wagner syndrome family.
25
6
|
Kloeckener-Gruissem B...Berger W
|
16636652 |
2006 |
| 5 |
Identification of a novel splice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome.
6
25
|
Miyamoto T...Itakura M
|
16043844 |
2005 |
| 6 |
Wagner vitreoretinal degeneration with genetic linkage refinement on chromosome 5q13-q14.
6
25
|
Zech JC...Plauchu H
|
10333105 |
1999 |
| 7 |
Exclusion of COL2A1 as a candidate gene in a family with Wagner-Stickler syndrome.
6
|
Fryer AE...Harper PS
|
2319589 |
1990 |
| 8 |
Congenital glaucoma in Wagner syndrome.
25
|
Jewsbury H...Morgan J
|
24767812 |
2014 |
| 9 |
Versican and the control of inflammation.
25
|
Wight TN...Merrilees MJ
|
24513039 |
2014 |
| 10 |
De novo splice mutation in the versican gene in a family with Wagner syndrome.
25
|
Rothschild PR...Valleix S
|
23571384 |
2013 |
| 11 |
Roles of versican in cancer biology--tumorigenesis, progression and metastasis.
25
|
Du WW...Yee AJ
|
23519970 |
2013 |
| 12 |
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.
25
|
Chen X...Zhao C
|
23462753 |
2013 |
| 13 |
A family with Wagner syndrome with uveitis and a new versican mutation.
25
|
Rothschild PR...Valleix S
|
24174867 |
2013 |
| 14 |
Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration.
25
|
Mahajan VB...Stone EM
|
23055945 |
2012 |
| 15 |
Familial retinoblastoma: fundus screening schedule impact and guideline proposal. A retrospective study.
25
|
Rothschild PR...Levy-Gabriel C
|
21921957 |
2011 |
| 16 |
Segmental versican expression in the trabecular meshwork and involvement in outflow facility.
25
|
Keller KE...Acott TS
|
21596823 |
2011 |
| 17 |
Mutational hot spot potential of a novel base pair mutation of the CSPG2 gene in a family with Wagner syndrome.
25
|
Ronan SM...Young TL
|
19901218 |
2009 |
| 18 |
Central retinal artery occlusion following forehead injection with a corticosteroid suspension.
25
|
Edwards AO
|
18789088 |
2008 |
| 19 |
Phenotypic variation in enhanced S-cone syndrome.
25
|
Audo I...Holder GE
|
18436841 |
2008 |
| 20 |
CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene.
25
|
Keren B...Verloes A
|
17546652 |
2007 |
| 21 |
Clinical characterisation and molecular analysis of Wagner syndrome.
25
|
Meredith SP...Snead MP
|
17035272 |
2007 |
| 22 |
Extracellular matrix gene alternative splicing by trabecular meshwork cells in response to mechanical stretching.
25
|
Keller KE...Acott TS
|
17325160 |
2007 |
| 23 |
Central cone dysfunction in autosomal dominant vitreoretino choroidopathy (ADVIRC).
25
|
Oh KT...Vallar C
|
16678511 |
2006 |
| 24 |
Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin.
25
|
Menzel O...Guipponi M
|
14695535 |
2004 |
| 25 |
A frame shift mutation in a tissue-specific alternatively spliced exon of collagen 2A1 in Wagner's vitreoretinal degeneration.
25
|
Gupta SK...Bulman DE
|
11812423 |
2002 |
| 26 |
Intercellular communication in the eye: clarifying the need for connexin diversity.
25
|
White TW...Bruzzone R
|
10751662 |
2000 |
| 27 |
Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.
25
|
Haider NB...Sheffield VC
|
10655056 |
2000 |
| 28 |
Versican/PG-M isoforms in vascular smooth muscle cells.
25
|
Lemire JM...Wight TN
|
10397680 |
1999 |
| 29 |
Wagner vitreoretinal degeneration. Follow-up of the original pedigree.
25
|
Graemiger RA...Messmer EP
|
9098284 |
1995 |
| 30 |
Identification of the proteoglycan versican in aorta and smooth muscle cells by DNA sequence analysis, in situ hybridization and immunohistochemistry.
25
|
Yao LY...Sandell LJ
|
7921538 |
1994 |
| 31 |
Autosomal dominant neovascular inflammatory vitreoretinopathy.
25
|
Bennett SR...Raphtis EM
|
2234842 |
1990 |
| 32 |
Degeneratio hyaloideo-retinalis herditaria.
25
|
JANSEN LM
|
14041873 |
1962 |
| 33 |
Is exon 8 the most critical or the only dispensable exon of the VCAN gene? Insights into VCAN variants and clinical spectrum of Wagner syndrome.
61
|
Ankala A...Shankar SP
|
30055036 |
2018 |
| 34 |
VCAN-Related Vitreoretinopathy
61
|
Kloeckener-Gruissem B...Amstutz C
|
20301747 |
2009 |
