Tlili A - Search Results

1

Mapping of a new autosomal recessive nonsyndromic hearing loss locus (DFNB32) to chromosome 1p13.3-22.1.

Masmoudi S, Tlili A, Majava M, Ghorbel AM, Chardenoux S, Lemainque A, Zina ZB, Moala J, Männikkö M, Weil D, Lathrop M, Ala-Kokko L, Drira M, Petit C, Ayadi H. Masmoudi S, et al. Among authors: tlili a. Eur J Hum Genet. 2003 Feb;11(2):185-8. doi: 10.1038/sj.ejhg.5200934. Eur J Hum Genet. 2003. PMID: 12634867

2

Functional consequences of Genetics variant in TMC1 and TMC2 within a United Arab Emirates family with Pre-lingual hearing loss.

Al Mutery A, Kamal Eldin Mohamed W, Mahfood M, Chouchen J, Tlili A. Al Mutery A, et al. Among authors: tlili a. Saudi J Biol Sci. 2023 Feb;30(2):103520. doi: 10.1016/j.sjbs.2022.103520. Epub 2022 Dec 1. Saudi J Biol Sci. 2023. PMID: 36568409 Free PMC article.

3

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. Hum Mutat. 2005 May;25(5):503. doi: 10.1002/humu.9333. Hum Mutat. 2005. PMID: 15841483

4

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. Hum Hered. 2005;60(3):123-8. doi: 10.1159/000088974. Epub 2005 Oct 18. Hum Hered. 2005. PMID: 16244493

5

Mutational analysis of the mitochondrial 12S rRNA and tRNASer(UCN) genes in Tunisian patients with nonsyndromic hearing loss.

Mkaouar-Rebai E, Tlili A, Masmoudi S, Louhichi N, Charfeddine I, Ben Amor M, Lahmar I, Driss N, Drira M, Ayadi H, Fakhfakh F. Mkaouar-Rebai E, et al. Among authors: tlili a. Biochem Biophys Res Commun. 2006 Feb 24;340(4):1251-8. doi: 10.1016/j.bbrc.2005.12.123. Epub 2006 Jan 5. Biochem Biophys Res Commun. 2006. PMID: 16406239 Clinical Trial.

6

Mutational analysis of the mitochondrial tRNALeu(UUR) gene in Tunisian patients with mitochondrial diseases.

Mkaouar-Rebai E, Tlili A, Masmoudi S, Belguith N, Charfeddine I, Mnif M, Triki C, Fakhfakh F. Mkaouar-Rebai E, et al. Among authors: tlili a. Biochem Biophys Res Commun. 2007 Apr 20;355(4):1031-7. doi: 10.1016/j.bbrc.2007.02.083. Epub 2007 Feb 26. Biochem Biophys Res Commun. 2007. PMID: 17336924

7

GJB2 (connexin 26) gene mutations in Moroccan patients with autosomal recessive non-syndromic hearing loss and carrier frequency of the common GJB2-35delG mutation.

Abidi O, Boulouiz R, Nahili H, Ridal M, Alami MN, Tlili A, Rouba H, Masmoudi S, Chafik A, Hassar M, Barakat A. Abidi O, et al. Among authors: tlili a. Int J Pediatr Otorhinolaryngol. 2007 Aug;71(8):1239-45. doi: 10.1016/j.ijporl.2007.04.019. Epub 2007 Jun 5. Int J Pediatr Otorhinolaryngol. 2007. PMID: 17553572

8

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: tlili chouchene j. Audiol Neurootol. 2008;13(4):213-8. doi: 10.1159/000115430. Epub 2008 Feb 7. Audiol Neurootol. 2008. PMID: 18259073

9

New polymorphic mtDNA restriction site in the 12S rRNA gene detected in Tunisian patients with non-syndromic hearing loss.

Mkaouar-Rebai E, Tlili A, Masmoudi S, Charfeddine I, Fakhfakh F. Mkaouar-Rebai E, et al. Among authors: tlili a. Biochem Biophys Res Commun. 2008 May 9;369(3):849-52. doi: 10.1016/j.bbrc.2008.02.107. Epub 2008 Mar 4. Biochem Biophys Res Commun. 2008. PMID: 18325329

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: tlili a. 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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