Perveen R - Search Results

1

3MC syndrome: molecular findings in previously reported and milder patients expand the natural history and phenotypic spectrum.

Ashton CJ, Perveen R, Beaman G, Crisponi G, González-Del Angel A, Garza-Mayén G, Alcántara-Ortigoza MA, O'Sullivan J, Clayton-Smith J. Ashton CJ, et al. Among authors: perveen r. Clin Dysmorphol. 2023 Jan 1;32(1):7-13. doi: 10.1097/MCD.0000000000000443. Epub 2022 Nov 28. Clin Dysmorphol. 2023. PMID: 36503917

2

Pulverulent cataract with variably associated microcornea and iris coloboma in a MAF mutation family.

Jamieson RV, Munier F, Balmer A, Farrar N, Perveen R, Black GC. Jamieson RV, et al. Among authors: perveen r. Br J Ophthalmol. 2003 Apr;87(4):411-2. doi: 10.1136/bjo.87.4.411. Br J Ophthalmol. 2003. PMID: 12642301 Free PMC article.

3

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. Mukhopadhyay A, et al. Among authors: perveen r. Invest Ophthalmol Vis Sci. 2006 Aug;47(8):3565-72. doi: 10.1167/iovs.06-0141. Invest Ophthalmol Vis Sci. 2006. PMID: 16877430

4

A heterozygous c-Maf transactivation domain mutation causes congenital cataract and enhances target gene activation.

Perveen R, Favor J, Jamieson RV, Ray DW, Black GC. Perveen R, et al. Hum Mol Genet. 2007 May 1;16(9):1030-8. doi: 10.1093/hmg/ddm048. Epub 2007 Mar 20. Hum Mol Genet. 2007. PMID: 17374726

5

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

6

Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR.

Ng D, Thakker N, Corcoran CM, Donnai D, Perveen R, Schneider A, Hadley DW, Tifft C, Zhang L, Wilkie AO, van der Smagt JJ, Gorlin RJ, Burgess SM, Bardwell VJ, Black GC, Biesecker LG. Ng D, et al. Among authors: perveen r. Nat Genet. 2004 Apr;36(4):411-6. doi: 10.1038/ng1321. Epub 2004 Mar 7. Nat Genet. 2004. PMID: 15004558

7

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

8

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.

9

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

10

X-linked isolated growth hormone deficiency: expanding the phenotypic spectrum of SOX3 polyalanine tract expansions.

Burkitt Wright EM, Perveen R, Clayton PE, Hall CM, Costa T, Procter AM, Giblin CA, Donnai D, Black GC. Burkitt Wright EM, et al. Among authors: perveen r. Clin Dysmorphol. 2009 Oct;18(4):218-21. doi: 10.1097/MCD.0b013e32832d06f0. Clin Dysmorphol. 2009. PMID: 19654509 Free PMC article. No abstract available.

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