Smaoui N - Search Results

1

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

2

Molecular genetics of cataract.

Hejtmancik JF, Smaoui N. Hejtmancik JF, et al. Among authors: smaoui n. Dev Ophthalmol. 2003;37:67-82. doi: 10.1159/000072039. Dev Ophthalmol. 2003. PMID: 12876830 Review.

3

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

4

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.

5

High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy.

Song J, Smaoui N, Ayyagari R, Stiles D, Benhamed S, MacDonald IM, Daiger SP, Tumminia SJ, Hejtmancik F, Wang X. Song J, et al. Among authors: smaoui n. Invest Ophthalmol Vis Sci. 2011 Nov 25;52(12):9053-60. doi: 10.1167/iovs.11-7978. Invest Ophthalmol Vis Sci. 2011. PMID: 22025579 Free PMC article.

6

Mutation analysis of TBX22 reveals new mutation in Tunisian CPX family.

Chaabouni M, Smaoui N, Benneji N, M'rad R, Jemaa LB, Hachicha S, Chaabouni H. Chaabouni M, et al. Among authors: smaoui n. Clin Dysmorphol. 2005 Jan;14(1):23-25. Clin Dysmorphol. 2005. PMID: 15602089

7

MEFV mutations in Tunisian patients suffering from familial Mediterranean fever.

Chaabouni HB, Ksantini M, M'rad R, Kharrat M, Chaabouni M, Maazoul F, Bahloul Z, Ben Jemaa L, Ben Moussa F, Ben Chaabane T, Mrad S, Touitou I, Smaoui N. Chaabouni HB, et al. Among authors: smaoui n. Semin Arthritis Rheum. 2007 Jun;36(6):397-401. doi: 10.1016/j.semarthrit.2006.12.004. Epub 2007 Feb 5. Semin Arthritis Rheum. 2007. PMID: 17276496

8

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.

9

[Epidemiologic and genetic study of trisomy 21 in Tunisia].

Chaabouni H, Smaoui N, Maazoul F, Ben Jemaa L, M'Rad R. Chaabouni H, et al. Among authors: smaoui n. Tunis Med. 1999 Aug-Sep;77(8-9):407-14. Tunis Med. 1999. PMID: 10611817 French. No abstract available.

10

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.

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