Waseem NH - Search Results

1

A 112 kb deletion in chromosome 19q13.42 leads to retinitis pigmentosa.

Rose AM, Mukhopadhyay R, Webster AR, Bhattacharya SS, Waseem NH. Rose AM, et al. Among authors: waseem nh. Invest Ophthalmol Vis Sci. 2011 Aug 22;52(9):6597-603. doi: 10.1167/iovs.11-7861. Invest Ophthalmol Vis Sci. 2011. PMID: 21715351

2

A new locus (RP31) for autosomal dominant retinitis pigmentosa maps to chromosome 9p.

Papaioannou M, Chakarova CF, Prescott DC, Waseem N, Theis T, Lopez I, Gill B, Koenekoop RK, Bhattacharya SS. Papaioannou M, et al. Hum Genet. 2005 Dec;118(3-4):501-3. doi: 10.1007/s00439-005-0063-3. Epub 2005 Sep 28. Hum Genet. 2005. PMID: 16189705

3

An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy.

Henderson RH, Waseem N, Searle R, van der Spuy J, Russell-Eggitt I, Bhattacharya SS, Thompson DA, Holder GE, Cheetham ME, Webster AR, Moore AT. Henderson RH, et al. Invest Ophthalmol Vis Sci. 2007 Dec;48(12):5684-9. doi: 10.1167/iovs.07-0207. Invest Ophthalmol Vis Sci. 2007. PMID: 18055820 Free article.

4

Novel mutations in MERTK associated with childhood onset rod-cone dystrophy.

Mackay DS, Henderson RH, Sergouniotis PI, Li Z, Moradi P, Holder GE, Waseem N, Bhattacharya SS, Aldahmesh MA, Alkuraya FS, Meyer B, Webster AR, Moore AT. Mackay DS, et al. Mol Vis. 2010 Mar 9;16:369-77. Mol Vis. 2010. PMID: 20300561 Free PMC article.

5

Genotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder Population.

Coussa RG, Chakarova C, Ajlan R, Taha M, Kavalec C, Gomolin J, Khan A, Lopez I, Ren H, Waseem N, Kamenarova K, Bhattacharya SS, Koenekoop RK. Coussa RG, et al. Invest Ophthalmol Vis Sci. 2015 Dec;56(13):8297-305. doi: 10.1167/iovs.15-17104. Invest Ophthalmol Vis Sci. 2015. PMID: 26720483 Free PMC article.

6

Dominant Cone Rod Dystrophy, Previously Assigned to a Missense Variant in RIMS1, Is Fully Explained by Co-Inheritance of a Dominant Allele of PROM1.

Martin-Gutierrez MP, Schiff ER, Wright G, Waseem N, Mahroo OA, Michaelides M, Moore AT, Webster AR, Arno G; Genomics England Research Consortium. Martin-Gutierrez MP, et al. Invest Ophthalmol Vis Sci. 2022 Aug 2;63(9):14. doi: 10.1167/iovs.63.9.14. Invest Ophthalmol Vis Sci. 2022. PMID: 35947379 Free PMC article.

7

Maculopathy due to the R345W substitution in fibulin-3: distinct clinical features, disease variability, and extent of retinal dysfunction.

Michaelides M, Jenkins SA, Brantley MA Jr, Andrews RM, Waseem N, Luong V, Gregory-Evans K, Bhattacharya SS, Fitzke FW, Webster AR. Michaelides M, et al. Invest Ophthalmol Vis Sci. 2006 Jul;47(7):3085-97. doi: 10.1167/iovs.05-1600. Invest Ophthalmol Vis Sci. 2006. PMID: 16799055

8

Mutations in the gene coding for the pre-mRNA splicing factor, PRPF31, in patients with autosomal dominant retinitis pigmentosa.

Waseem NH, Vaclavik V, Webster A, Jenkins SA, Bird AC, Bhattacharya SS. Waseem NH, et al. Invest Ophthalmol Vis Sci. 2007 Mar;48(3):1330-4. doi: 10.1167/iovs.06-0963. Invest Ophthalmol Vis Sci. 2007. PMID: 17325180

9

Autosomal dominant retinitis pigmentosa with intrafamilial variability and incomplete penetrance in two families carrying mutations in PRPF8.

Maubaret CG, Vaclavik V, Mukhopadhyay R, Waseem NH, Churchill A, Holder GE, Moore AT, Bhattacharya SS, Webster AR. Maubaret CG, et al. Among authors: waseem nh. Invest Ophthalmol Vis Sci. 2011 Dec 2;52(13):9304-9. doi: 10.1167/iovs.11-8372. Invest Ophthalmol Vis Sci. 2011. PMID: 22039234

10

Expression of PRPF31 and TFPT: regulation in health and retinal disease.

Rose AM, Shah AZ, Waseem NH, Chakarova CF, Alfano G, Coussa RG, Ajlan R, Koenekoop RK, Bhattacharya SS. Rose AM, et al. Among authors: waseem nh. Hum Mol Genet. 2012 Sep 15;21(18):4126-37. doi: 10.1093/hmg/dds242. Epub 2012 Jun 20. Hum Mol Genet. 2012. PMID: 22723017

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