Perveen R - Search Results

1

Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).

Yardley J, Leroy BP, Hart-Holden N, Lafaut BA, Loeys B, Messiaen LM, Perveen R, Reddy MA, Bhattacharya SS, Traboulsi E, Baralle D, De Laey JJ, Puech B, Kestelyn P, Moore AT, Manson FD, Black GC. Yardley J, et al. Among authors: perveen r. Invest Ophthalmol Vis Sci. 2004 Oct;45(10):3683-9. doi: 10.1167/iovs.04-0550. Invest Ophthalmol Vis Sci. 2004. PMID: 15452077

2

Locus heterogeneity in autosomal dominant congenital external ophthalmoplegia (CFEOM).

Black GC, Perveen R, Hatchwell E, Reck A, Clayton-Smith J. Black GC, et al. Among authors: perveen r. J Med Genet. 1998 Dec;35(12):985-8. doi: 10.1136/jmg.35.12.985. J Med Genet. 1998. PMID: 9863593 Free PMC article.

3

A mutation in the RIEG1 gene associated with Peters' anomaly.

Doward W, Perveen R, Lloyd IC, Ridgway AE, Wilson L, Black GC. Doward W, et al. Among authors: perveen r. J Med Genet. 1999 Feb;36(2):152-5. J Med Genet. 1999. PMID: 10051017 Free PMC article.

4

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. Perveen R, et al. Genomics. 1999 Apr 15;57(2):219-26. doi: 10.1006/geno.1999.5766. Genomics. 1999. PMID: 10198161

5

Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis.

Black GC, Perveen R, Bonshek R, Cahill M, Clayton-Smith J, Lloyd IC, McLeod D. Black GC, et al. Among authors: perveen r. Hum Mol Genet. 1999 Oct;8(11):2031-5. doi: 10.1093/hmg/8.11.2031. Hum Mol Genet. 1999. PMID: 10484772

6

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. Black GC, et al. Among authors: perveen r. Ophthalmology. 1999 Nov;106(11):2074-81. doi: 10.1016/S0161-6420(99)90486-4. Ophthalmology. 1999. PMID: 10571340

7

Phenotypic variability and asymmetry of Rieger syndrome associated with PITX2 mutations.

Perveen R, Lloyd IC, Clayton-Smith J, Churchill A, van Heyningen V, Hanson I, Taylor D, McKeown C, Super M, Kerr B, Winter R, Black GC. Perveen R, et al. Invest Ophthalmol Vis Sci. 2000 Aug;41(9):2456-60. Invest Ophthalmol Vis Sci. 2000. PMID: 10937553

8

Ultrastructural and molecular analysis of Bowman's layer corneal dystrophies: an epithelial origin?

Ridgway AE, Akhtar S, Munier FL, Schorderet DF, Stewart H, Perveen R, Bonshek RE, Odenthal MT, Dixon M, Barraquer R, Escoto R, Black GC. Ridgway AE, et al. Among authors: perveen r. Invest Ophthalmol Vis Sci. 2000 Oct;41(11):3286-92. Invest Ophthalmol Vis Sci. 2000. PMID: 11006215

9

Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy.

Biswas S, Munier FL, Yardley J, Hart-Holden N, Perveen R, Cousin P, Sutphin JE, Noble B, Batterbury M, Kielty C, Hackett A, Bonshek R, Ridgway A, McLeod D, Sheffield VC, Stone EM, Schorderet DF, Black GC. Biswas S, et al. Among authors: perveen r. Hum Mol Genet. 2001 Oct 1;10(21):2415-23. doi: 10.1093/hmg/10.21.2415. Hum Mol Genet. 2001. PMID: 11689488

10

Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma.

Jamieson RV, Perveen R, Kerr B, Carette M, Yardley J, Heon E, Wirth MG, van Heyningen V, Donnai D, Munier F, Black GC. Jamieson RV, et al. Among authors: perveen r. Hum Mol Genet. 2002 Jan 1;11(1):33-42. doi: 10.1093/hmg/11.1.33. Hum Mol Genet. 2002. PMID: 11772997

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