Hmani-Aifa M - Search Results

1

A genome-wide linkage scan in Tunisian families identifies a novel locus for non-syndromic posterior microphthalmia to chromosome 2q37.1.

Hmani-Aifa M, Ben Salem S, Benzina Z, Bouassida W, Messaoud R, Turki K, Khairallah M, Rebaï A, Fakhfekh F, Söderkvist P, Ayadi H. Hmani-Aifa M, et al. Hum Genet. 2009 Oct;126(4):575-87. doi: 10.1007/s00439-009-0688-8. Epub 2009 Jun 14. Hum Genet. 2009. PMID: 19526372

2

Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family.

Hmani-Aifa M, Benzina Z, Zulfiqar F, Dhouib H, Shahzadi A, Ghorbel A, Rebaï A, Söderkvist P, Riazuddin S, Kimberling WJ, Ayadi H. Hmani-Aifa M, et al. Eur J Hum Genet. 2009 Apr;17(4):474-82. doi: 10.1038/ejhg.2008.167. Epub 2008 Oct 15. Eur J Hum Genet. 2009. PMID: 18854872 Free PMC article.

3

Posterior microphthalmia and nanophthalmia in Tunisia caused by a founder c.1059_1066insC mutation of the PRSS56 gene.

Said MB, Chouchène E, Salem SB, Daoud K, Largueche L, Bouassida W, Benzina Z, Ayadi H, Söderkvist P, Matri L, Hmani-Aifa M. Said MB, et al. Among authors: hmani aifa m. Gene. 2013 Oct 10;528(2):288-94. doi: 10.1016/j.gene.2013.06.045. Epub 2013 Jun 29. Gene. 2013. PMID: 23820083

4

Segregation of a new mutation in SLC26A4 and p.E47X mutation in GJB2 within a consanguineous Tunisian family affected with Pendred syndrome.

Ben Said M, Dhouib H, BenZina Z, Ghorbel A, Moreno F, Masmoudi S, Ayadi H, Hmani-Aifa M. Ben Said M, et al. Among authors: hmani aifa m. Int J Pediatr Otorhinolaryngol. 2012 Jun;76(6):832-6. doi: 10.1016/j.ijporl.2012.02.053. Epub 2012 Mar 18. Int J Pediatr Otorhinolaryngol. 2012. PMID: 22429511

5

Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and mice.

Nair KS, Hmani-Aifa M, Ali Z, Kearney AL, Ben Salem S, Macalinao DG, Cosma IM, Bouassida W, Hakim B, Benzina Z, Soto I, Söderkvist P, Howell GR, Smith RS, Ayadi H, John SW. Nair KS, et al. Among authors: hmani aifa m. Nat Genet. 2011 Jun;43(6):579-84. doi: 10.1038/ng.813. Epub 2011 May 1. Nat Genet. 2011. PMID: 21532570 Free PMC article.

6

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: hmani aifa m. 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

7

Novel BEST1 gene mutations associated with two different forms of macular dystrophy in Tunisian families.

Chibani Z, Abid IZ, Molbaek A, Söderkvist P, Feki J, Hmani-Aifa M. Chibani Z, et al. Among authors: hmani aifa m. Clin Exp Ophthalmol. 2019 Nov;47(8):1063-1073. doi: 10.1111/ceo.13577. Epub 2019 Jul 24. Clin Exp Ophthalmol. 2019. PMID: 31254423

8

High frequency of the p.R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effects.

Ben Saïd M, Hmani-Aifa M, Amar I, Baig SM, Mustapha M, Delmaghani S, Tlili A, Ghorbel A, Ayadi H, Van Camp G, Smith RJ, Tekin M, Masmoudi S. Ben Saïd M, et al. Among authors: hmani aifa m. Genet Test Mol Biomarkers. 2010 Jun;14(3):307-11. doi: 10.1089/gtmb.2009.0174. Genet Test Mol Biomarkers. 2010. PMID: 20373850 Free PMC article.

9

Molecular identification of Helicobacter DNA present in human colorectal adenocarcinomas by 16S rDNA PCR amplification and pyrosequencing analysis.

Grahn N, Hmani-Aifa M, Fransén K, Söderkvist P, Monstein HJ. Grahn N, et al. Among authors: hmani aifa m. J Med Microbiol. 2005 Nov;54(Pt 11):1031-1035. doi: 10.1099/jmm.0.46122-0. J Med Microbiol. 2005. PMID: 16192433

10

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: hmani aifa m. 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.

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