Charfedine I - Search Results

1

Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans.

Ahmed ZM, Masmoudi S, Kalay E, Belyantseva IA, Mosrati MA, Collin RW, Riazuddin S, Hmani-Aifa M, Venselaar H, Kawar MN, Tlili A, van der Zwaag B, Khan SY, Ayadi L, Riazuddin SA, Morell RJ, Griffith AJ, Charfedine I, Caylan R, Oostrik J, Karaguzel A, Ghorbel A, Riazuddin S, Friedman TB, Ayadi H, Kremer H. Ahmed ZM, et al. Among authors: charfedine i. Nat Genet. 2008 Nov;40(11):1335-40. doi: 10.1038/ng.245. Epub 2008 Oct 26. Nat Genet. 2008. PMID: 18953341 Free PMC article.

2

Refined mapping of the autosomal recessive non-syndromic deafness locus DFNB13 using eight novel microsatellite markers.

Masmoudi S, Charfedine I, Rebeh IB, Rebai A, Tlili A, Ghorbel AM, Belguith H, Petit C, Drira M, Ayadi H. Masmoudi S, et al. Among authors: charfedine i. Clin Genet. 2004 Oct;66(4):358-64. doi: 10.1111/j.1399-0004.2004.00311.x. Clin Genet. 2004. PMID: 15355440

3

Reinforcement of a minor alternative splicing event in MYO7A due to a missense mutation results in a mild form of retinopathy and deafness.

Ben Rebeh I, Morinière M, Ayadi L, Benzina Z, Charfedine I, Feki J, Ayadi H, Ghorbel A, Baklouti F, Masmoudi S. Ben Rebeh I, et al. Among authors: charfedine i. Mol Vis. 2010 Sep 30;16:1898-906. Mol Vis. 2010. PMID: 21031134 Free PMC article.

4

Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation.

Masmoudi S, Charfedine I, Hmani M, Grati M, Ghorbel AM, Elgaied-Boulila A, Drira M, Hardelin JP, Ayadi H. Masmoudi S, et al. Among authors: charfedine i. Am J Med Genet. 2000 Jan 3;90(1):38-44. Am J Med Genet. 2000. PMID: 10602116

5

Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB63 to chromosome 11q13.3-q13.4.

Tlili A, Masmoudi S, Dhouib H, Bouaziz S, Rebeh IB, Chouchen J, Turki K, Benzina Z, Charfedine I, Drira M, Ayadi H. Tlili A, et al. Among authors: charfedine i. Ann Hum Genet. 2007 Mar;71(Pt 2):271-5. doi: 10.1111/j.1469-1809.2006.00337.x. Epub 2006 Dec 12. Ann Hum Genet. 2007. PMID: 17166180

6

Identification of a novel frameshift mutation in the DFNB31/WHRN gene in a Tunisian consanguineous family with hereditary non-syndromic recessive hearing loss.

Tlili A, Charfedine I, Lahmar I, Benzina Z, Mohamed BA, Weil D, Idriss N, Drira M, Masmoudi S, Ayadi H. Tlili A, et al. Among authors: charfedine i. Hum Mutat. 2005 May;25(5):503. doi: 10.1002/humu.9333. Hum Mutat. 2005. PMID: 15841483

7

TMC1 but not TMC2 is responsible for autosomal recessive nonsyndromic hearing impairment in Tunisian families.

Tlili A, Rebeh IB, Aifa-Hmani M, Dhouib H, Moalla J, Tlili-Chouchène J, Said MB, Lahmar I, Benzina Z, Charfedine I, Driss N, Ghorbel A, Ayadi H, Masmoudi S. Tlili A, et al. Among authors: charfedine i. Audiol Neurootol. 2008;13(4):213-8. doi: 10.1159/000115430. Epub 2008 Feb 7. Audiol Neurootol. 2008. PMID: 18259073

8

Genetic variants in RELN are associated with otosclerosis in a non-European population from Tunisia.

Khalfallah A, Schrauwen I, Mnaja M, Fransen E, Lahmar I, Ealy M, Dhouib L, Ayadi H, Charfedine I, Driss N, Ghorbel A, Smith RJ, Masmoudi S, Van Camp G. Khalfallah A, et al. Among authors: charfedine i. Ann Hum Genet. 2010 Sep 1;74(5):399-405. doi: 10.1111/j.1469-1809.2010.00595.x. Epub 2010 Jul 14. Ann Hum Genet. 2010. PMID: 20642811

9

A novel autosomal recessive non-syndromic deafness locus, DFNB66, maps to chromosome 6p21.2-22.3 in a large Tunisian consanguineous family.

Tlili A, Männikkö M, Charfedine I, Lahmar I, Benzina Z, Ben Amor M, Driss N, Ala-Kokko L, Drira M, Masmoudi S, Ayadi H. Tlili A, et al. Among authors: charfedine i. Hum Hered. 2005;60(3):123-8. doi: 10.1159/000088974. Epub 2005 Oct 18. Hum Hered. 2005. PMID: 16244493

10

Identification of candidate regions for a novel Usher syndrome type II locus.

Ben Rebeh I, Benzina Z, Dhouib H, Hadjamor I, Amyere M, Ayadi L, Turki K, Hammami B, Kmiha N, Kammoun H, Hakim B, Charfedine I, Vikkula M, Ghorbel A, Ayadi H, Masmoudi S. Ben Rebeh I, et al. Among authors: charfedine i. Mol Vis. 2008 Sep 19;14:1719-26. Mol Vis. 2008. PMID: 18806881 Free PMC article.

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