212 related articles for article (PubMed ID: 10571340)
1. A novel hereditary developmental vitreoretinopathy with multiple ocular abnormalities localizing to a 5-cM region of chromosome 5q13-q14.
Black GC; Perveen R; Wiszniewski W; Dodd CL; Donnai D; McLeod D
Ophthalmology; 1999 Nov; 106(11):2074-81. PubMed ID: 10571340
[TBL] [Abstract][Full Text] [Related]
2. Snowflake vitreoretinal degeneration: follow-up of the original family.
Lee MM; Ritter R; Hirose T; Vu CD; Edwards AO
Ophthalmology; 2003 Dec; 110(12):2418-26. PubMed ID: 14644728
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 16043844
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 10333105
[TBL] [Abstract][Full Text] [Related]
5. Locus for autosomal recessive nonsyndromic persistent hyperplastic primary vitreous.
Khaliq S; Hameed A; Ismail M; Anwar K; Leroy B; Payne AM; Bhattacharya SS; Mehdi SQ
Invest Ophthalmol Vis Sci; 2001 Sep; 42(10):2225-8. PubMed ID: 11527934
[TBL] [Abstract][Full Text] [Related]
6. Identification of a fourth locus (EVR4) for familial exudative vitreoretinopathy (FEVR).
Toomes C; Downey LM; Bottomley HM; Scott S; Woodruff G; Trembath RC; Inglehearn CF
Mol Vis; 2004 Jan; 10():37-42. PubMed ID: 14737064
[TBL] [Abstract][Full Text] [Related]
7. Genetic linkage of snowflake vitreoretinal degeneration to chromosome 2q36.
Jiao X; Ritter R; Hejtmancik JF; Edwards AO
Invest Ophthalmol Vis Sci; 2004 Dec; 45(12):4498-503. PubMed ID: 15557460
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 16877430
[TBL] [Abstract][Full Text] [Related]
9. [Variability of clinical manifestations in the family with Axenfeld-Rieger syndrome].
Kamińska A; Sokołowska-Oracz A; Pawluczyk-Dyjecińska M; Szaflik JP
Klin Oczna; 2007; 109(7-9):321-6. PubMed ID: 18260289
[TBL] [Abstract][Full Text] [Related]
10. First genomic localization of oculo-oto-dental syndrome with linkage to chromosome 20q13.1.
Vieira H; Gregory-Evans K; Lim N; Brookes JL; Brueton LA; Gregory-Evans CY
Invest Ophthalmol Vis Sci; 2002 Aug; 43(8):2540-5. PubMed ID: 12147582
[TBL] [Abstract][Full Text] [Related]
11. Refined genetic and physical localization of the Wagner disease (WGN1) locus and the genes CRTL1 and CSPG2 to a 2- to 2.5-cM region of chromosome 5q14.3.
Perveen R; Hart-Holden N; Dixon MJ; Wiszniewski W; Fryer AE; Brunner HG; Pinkners AJ; van Beersum SE; Black GC
Genomics; 1999 Apr; 57(2):219-26. PubMed ID: 10198161
[TBL] [Abstract][Full Text] [Related]
12. An autosomal dominant posterior polar cataract locus maps to human chromosome 20p12-q12.
Yamada K; Tomita H; Yoshiura K; Kondo S; Wakui K; Fukushima Y; Ikegawa S; Nakamura Y; Amemiya T; Niikawa N
Eur J Hum Genet; 2000 Jul; 8(7):535-9. PubMed ID: 10909854
[TBL] [Abstract][Full Text] [Related]
13. A new betaA1-crystallin splice junction mutation in autosomal dominant cataract.
Bateman JB; Geyer DD; Flodman P; Johannes M; Sikela J; Walter N; Moreira AT; Clancy K; Spence MA
Invest Ophthalmol Vis Sci; 2000 Oct; 41(11):3278-85. PubMed ID: 11006214
[TBL] [Abstract][Full Text] [Related]
14. A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy.
Chen ZY; Battinelli EM; Fielder A; Bundey S; Sims K; Breakefield XO; Craig IW
Nat Genet; 1993 Oct; 5(2):180-3. PubMed ID: 8252044
[TBL] [Abstract][Full Text] [Related]
15. Truncating mutation in the NHS gene: phenotypic heterogeneity of Nance-Horan syndrome in an asian Indian family.
Ramprasad VL; Thool A; Murugan S; Nancarrow D; Vyas P; Rao SK; Vidhya A; Ravishankar K; Kumaramanickavel G
Invest Ophthalmol Vis Sci; 2005 Jan; 46(1):17-23. PubMed ID: 15623749
[TBL] [Abstract][Full Text] [Related]
16. Severe ocular abnormalities in C57BL/6 but not in 129/Sv p53-deficient mice.
Ikeda S; Hawes NL; Chang B; Avery CS; Smith RS; Nishina PM
Invest Ophthalmol Vis Sci; 1999 Jul; 40(8):1874-8. PubMed ID: 10393064
[TBL] [Abstract][Full Text] [Related]
17. Clinical description and genome wide linkage study of Y-sutural cataract and myopia in a Chinese family.
Zhang Q; Guo X; Xiao X; Yi J; Jia X; Hejtmancik JF
Mol Vis; 2004 Nov; 10():890-900. PubMed ID: 15570218
[TBL] [Abstract][Full Text] [Related]
18. Genetic linkage of Wagner disease and erosive vitreoretinopathy to chromosome 5q13-14.
Brown DM; Graemiger RA; Hergersberg M; Schinzel A; Messmer EP; Niemeyer G; Schneeberger SA; Streb LM; Taylor CM; Kimura AE
Arch Ophthalmol; 1995 May; 113(5):671-5. PubMed ID: 7748141
[TBL] [Abstract][Full Text] [Related]
19. CRYBB1 mutation associated with congenital cataract and microcornea.
Willoughby CE; Shafiq A; Ferrini W; Chan LL; Billingsley G; Priston M; Mok C; Chandna A; Kaye S; Héon E
Mol Vis; 2005 Aug; 11():587-93. PubMed ID: 16110300
[TBL] [Abstract][Full Text] [Related]
20. A novel locus for autosomal dominant nuclear cataract mapped to chromosome 2p12 in a Pakistani family.
Khaliq S; Hameed A; Ismail M; Anwar K; Mehdi SQ
Invest Ophthalmol Vis Sci; 2002 Jul; 43(7):2083-7. PubMed ID: 12091400
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]