Smaoui N - Search Results

1

Clinical and genetic heterogeneity of crystalline retinopathies: report of two families without bietti crystalline dystrophy.

Biscette OM, Caruso RC, Smaoui N, Rubin BI, Crawford MA, Meltzer MR, Chan CC, Tsilou E. Biscette OM, et al. Among authors: smaoui n. Retin Cases Brief Rep. 2007 Fall;1(4):232-5. doi: 10.1097/01.iae.0000232165.56434.b5. Retin Cases Brief Rep. 2007. PMID: 25390987

2

Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis.

Sergeev YV, Caruso RC, Meltzer MR, Smaoui N, MacDonald IM, Sieving PA. Sergeev YV, et al. Among authors: smaoui n. Hum Mol Genet. 2010 Apr 1;19(7):1302-13. doi: 10.1093/hmg/ddq006. Epub 2010 Jan 8. Hum Mol Genet. 2010. PMID: 20061330 Free PMC article.

3

Null retinoschisin-protein expression from an RS1 c354del1-ins18 mutation causing progressive and severe XLRS in a cross-sectional family study.

Vijayasarathy C, Ziccardi L, Zeng Y, Smaoui N, Caruso RC, Sieving PA. Vijayasarathy C, et al. Among authors: smaoui n. Invest Ophthalmol Vis Sci. 2009 Nov;50(11):5375-83. doi: 10.1167/iovs.09-3839. Epub 2009 May 27. Invest Ophthalmol Vis Sci. 2009. PMID: 19474399 Free PMC article.

4

RS-1 Gene Delivery to an Adult Rs1h Knockout Mouse Model Restores ERG b-Wave with Reversal of the Electronegative Waveform of X-Linked Retinoschisis.

Zeng Y, Takada Y, Kjellstrom S, Hiriyanna K, Tanikawa A, Wawrousek E, Smaoui N, Caruso R, Bush RA, Sieving PA. Zeng Y, et al. Among authors: smaoui n. Invest Ophthalmol Vis Sci. 2004 Sep;45(9):3279-85. doi: 10.1167/iovs.04-0576. Invest Ophthalmol Vis Sci. 2004. PMID: 15326152

5

Abnormal cone structure in foveal schisis cavities in X-linked retinoschisis from mutations in exon 6 of the RS1 gene.

Duncan JL, Ratnam K, Birch DG, Sundquist SM, Lucero AS, Zhang Y, Meltzer M, Smaoui N, Roorda A. Duncan JL, et al. Among authors: smaoui n. Invest Ophthalmol Vis Sci. 2011 Dec 20;52(13):9614-23. doi: 10.1167/iovs.11-8600. Invest Ophthalmol Vis Sci. 2011. PMID: 22110067 Free PMC article.

6

Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.

Chen J, Smaoui N, Hammer MB, Jiao X, Riazuddin SA, Harper S, Katsanis N, Riazuddin S, Chaabouni H, Berson EL, Hejtmancik JF. Chen J, et al. Among authors: smaoui n. Invest Ophthalmol Vis Sci. 2011 Jul 18;52(8):5317-24. doi: 10.1167/iovs.11-7554. Invest Ophthalmol Vis Sci. 2011. PMID: 21642631 Free PMC article.

7

Screening of the eight BBS genes in Tunisian families: no evidence of triallelism.

Smaoui N, Chaabouni M, Sergeev YV, Kallel H, Li S, Mahfoudh N, Maazoul F, Kammoun H, Gandoura N, Bouaziz A, Nouiri E, M'Rad R, Chaabouni H, Hejtmancik JF. Smaoui N, et al. Invest Ophthalmol Vis Sci. 2006 Aug;47(8):3487-95. doi: 10.1167/iovs.05-1334. Invest Ophthalmol Vis Sci. 2006. PMID: 16877420

8

The functional effect of pathogenic mutations in Rab escort protein 1.

Sergeev YV, Smaoui N, Sui R, Stiles D, Gordiyenko N, Strunnikova N, Macdonald IM. Sergeev YV, et al. Among authors: smaoui n. Mutat Res. 2009 Jun 1;665(1-2):44-50. doi: 10.1016/j.mrfmmm.2009.02.015. Epub 2009 Mar 13. Mutat Res. 2009. PMID: 19427510 Free PMC article.

9

A homozygous splice mutation in the HSF4 gene is associated with an autosomal recessive congenital cataract.

Smaoui N, Beltaief O, BenHamed S, M'Rad R, Maazoul F, Ouertani A, Chaabouni H, Hejtmancik JF. Smaoui N, et al. Invest Ophthalmol Vis Sci. 2004 Aug;45(8):2716-21. doi: 10.1167/iovs.03-1370. Invest Ophthalmol Vis Sci. 2004. PMID: 15277496

10

Characterization of novel RS1 exonic deletions in juvenile X-linked retinoschisis.

D'Souza L, Cukras C, Antolik C, Craig C, Lee JY, He H, Li S, Smaoui N, Hejtmancik JF, Sieving PA, Wang X. D'Souza L, et al. Among authors: smaoui n. Mol Vis. 2013 Nov 7;19:2209-16. eCollection 2013. Mol Vis. 2013. PMID: 24227916 Free PMC article.

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