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Items: 1 to 20 of 74

1.

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.

2.

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
3.

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.

4.

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
5.

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.

6.

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.

7.

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.

8.

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.

9.

New splicing mutations in propionic acidemia.

Desviat LR, Clavero S, Perez-Cerdá C, Navarrete R, Ugarte M, Perez B.

J Hum Genet. 2006;51(11):992-7. Epub 2006 Oct 19.

PMID:
17051315
10.

Autosomal dominant rhegmatogenous retinal detachment associated with an Arg453Ter mutation in the COL2A1 gene.

Go SL, Maugeri A, Mulder JJ, van Driel MA, Cremers FP, Hoyng CB.

Invest Ophthalmol Vis Sci. 2003 Sep;44(9):4035-43.

PMID:
12939326
11.

A-2-->G transition at the 3' acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred.

Williams CJ, Ganguly A, Considine E, McCarron S, Prockop DJ, Walsh-Vockley C, Michels VV.

Am J Med Genet. 1996 Jun 14;63(3):461-7.

PMID:
8737653
12.

Abnormal splicing of hepatocyte nuclear factor 1 alpha in maturity-onset diabetes of the young.

Bulman MP, Harries LW, Hansen T, Shepherd M, Kelly WF, Hattersley AT, Ellard S.

Diabetologia. 2002 Oct;45(10):1463-7. Epub 2002 Sep 11.

PMID:
12378390
13.

X-linked CHARGE-like Abruzzo-Erickson syndrome and classic cleft palate with ankyloglossia result from TBX22 splicing mutations.

Pauws E, Peskett E, Boissin C, Hoshino A, Mengrelis K, Carta E, Abruzzo MA, Lees M, Moore GE, Erickson RP, Stanier P.

Clin Genet. 2013 Apr;83(4):352-8. doi: 10.1111/j.1399-0004.2012.01930.x. Epub 2012 Aug 7.

PMID:
22784330
14.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970
15.

Analysis of RNA splicing defects in PITX2 mutants supports a gene dosage model of Axenfeld-Rieger syndrome.

Maciolek NL, Alward WL, Murray JC, Semina EV, McNally MT.

BMC Med Genet. 2006 Jul 11;7:59.

16.

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
17.

A short in-frame deletion in NTRK1 tyrosine kinase domain caused by a novel splice site mutation in a patient with congenital insensitivity to pain with anhidrosis.

Sarasola E, Rodríguez JA, Garrote E, Arístegui J, García-Barcina MJ.

BMC Med Genet. 2011 Jun 27;12:86. doi: 10.1186/1471-2350-12-86.

18.

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
19.

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.

20.

Identification of two novel mutations and of a novel critical region in the KRIT1 gene.

Guarnieri V, Muscarella LA, Amoroso R, Quattrone A, Abate ME, Coco M, Catapano D, D'Angelo VA, Zelante L, D'Agruma L.

Neurogenetics. 2007 Jan;8(1):29-37. Epub 2006 Oct 17.

PMID:
17043900

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