Masmoudi S - 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: masmoudi s. 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

CDC14A phosphatase is essential for hearing and male fertility in mouse and human.

Imtiaz A, Belyantseva IA, Beirl AJ, Fenollar-Ferrer C, Bashir R, Bukhari I, Bouzid A, Shaukat U, Azaiez H, Booth KT, Kahrizi K, Najmabadi H, Maqsood A, Wilson EA, Fitzgerald TS, Tlili A, Olszewski R, Lund M, Chaudhry T, Rehman AU, Starost MF, Waryah AM, Hoa M, Dong L, Morell RJ, Smith RJH, Riazuddin S, Masmoudi S, Kindt KS, Naz S, Friedman TB. Imtiaz A, et al. Among authors: masmoudi s. Hum Mol Genet. 2018 Mar 1;27(5):780-798. doi: 10.1093/hmg/ddx440. Hum Mol Genet. 2018. PMID: 29293958 Free PMC article.

3

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. Clin Genet. 2004 Oct;66(4):358-64. doi: 10.1111/j.1399-0004.2004.00311.x. Clin Genet. 2004. PMID: 15355440

4

DFNB66 and DFNB67 loci are non allelic and rarely contribute to autosomal recessive nonsyndromic hearing loss.

Bensaïd M, Hmani-Aifa M, Hammami B, Tlili A, Hakim B, Charfeddine I, Ayadi H, Ghorbel A, Castillo ID, Masmoudi S. Bensaïd M, et al. Among authors: masmoudi s. Eur J Med Genet. 2011 Nov-Dec;54(6):e565-9. doi: 10.1016/j.ejmg.2011.07.003. Epub 2011 Jul 26. Eur J Med Genet. 2011. PMID: 21816241

5

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: masmoudi s. Mol Vis. 2010 Sep 30;16:1898-906. Mol Vis. 2010. PMID: 21031134 Free PMC article.

6

Deep analysis of the LRTOMTc.242G>A variant in non-syndromic hearing loss North African patients and the Berber population: Implications for genetic diagnosis and genealogical studies.

Mosrati MA, Fadhlaoui-Zid K, Benammar-Elgaaied A, Gibriel AA, Ben Said M, Masmoudi S. Mosrati MA, et al. Among authors: masmoudi s. Mol Genet Genomic Med. 2021 Oct;9(10):e1810. doi: 10.1002/mgg3.1810. Epub 2021 Sep 13. Mol Genet Genomic Med. 2021. PMID: 34514748 Free PMC article.

7

Two missense mutations in SLC26A4 gene: a molecular and functional study.

Rebeh IB, Yoshimi N, Hadj-Kacem H, Yanohco S, Hammami B, Mnif M, Araki M, Ghorbel A, Ayadi H, Masmoudi S, Miyazaki H. Rebeh IB, et al. Among authors: masmoudi s. Clin Genet. 2010 Jul;78(1):74-80. doi: 10.1111/j.1399-0004.2009.01360.x. Epub 2009 Dec 2. Clin Genet. 2010. PMID: 20128824

8

A novel dominant mutation in SIX1, affecting a highly conserved residue, result in only auditory defects in humans.

Mosrati MA, Hammami B, Rebeh IB, Ayadi L, Dhouib L, Ben Mahfoudh K, Hakim B, Charfeddine I, Mnif J, Ghorbel A, Masmoudi S. Mosrati MA, et al. Among authors: masmoudi s. Eur J Med Genet. 2011 Sep-Oct;54(5):e484-8. doi: 10.1016/j.ejmg.2011.06.001. Epub 2011 Jun 15. Eur J Med Genet. 2011. PMID: 21700001

9

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. Am J Med Genet. 2000 Jan 3;90(1):38-44. Am J Med Genet. 2000. PMID: 10602116

10

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: masmoudi s. 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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

168 results

Search Page

Filters