Hadj Salem I - Search Results

1

Founder effect confirmation of c.241A>G mutation in the L2HGDH gene and characterization of oxidative stress parameters in six Tunisian families with L-2-hydroxyglutaric aciduria.

Jellouli NK, Hadj Salem I, Ellouz E, Kamoun Z, kamoun F, tlili A, Kaabachi N, Triki C, Fakhfakh F; Tunisian Network on Mental Retardation study. Jellouli NK, et al. Among authors: hadj salem i. J Hum Genet. 2014 Apr;59(4):216-22. doi: 10.1038/jhg.2014.4. Epub 2014 Feb 27. J Hum Genet. 2014. PMID: 24573090

2

Molecular characterization of X-linked adrenoleukodystrophy in a Tunisian family: identification of a novel missense mutation in the ABCD1 gene.

Kallabi F, Hadj Salem I, Ben Salah G, Ben Turkia H, Ben Chehida A, Tebib N, Fakhfakh F, Kamoun H. Kallabi F, et al. Among authors: hadj salem i. Neurodegener Dis. 2013;12(4):207-11. doi: 10.1159/000346680. Epub 2013 May 3. Neurodegener Dis. 2013. PMID: 23651979

3

Impact of single-nucleotide polymorphisms at the TP53-binding and responsive promoter region of BCL2 gene in modulating the phenotypic variability of LGMD2C patients.

Hadj Salem I, Kamoun F, Louhichi N, Trigui M, Triki C, Fakhfakh F. Hadj Salem I, et al. Mol Biol Rep. 2012 Jul;39(7):7479-86. doi: 10.1007/s11033-012-1581-4. Epub 2012 Feb 25. Mol Biol Rep. 2012. PMID: 22367371

4

A double mutation in AGXT gene in families with primary hyperoxaluria type 1.

Kanoun H, Jarraya F, Hadj Salem I, Mahfoudh H, Chaabouni Y, Makni F, Hachicha J, Fakhfakh F. Kanoun H, et al. Among authors: hadj salem i. Gene. 2013 Dec 1;531(2):451-6. doi: 10.1016/j.gene.2013.08.083. Epub 2013 Sep 5. Gene. 2013. PMID: 24012869

5

Molecular prenatal diagnosis of muscular dystrophies in Tunisia and postnatal follow-up role.

Siala O, Kammoun Feki F, Louhichi N, Hadj Salem I, Gribaa M, Elghzel H, Saad A, Triki C, Fakhfakh F. Siala O, et al. Among authors: hadj salem i. Genet Test. 2008 Dec;12(4):581-6. doi: 10.1089/gte.2008.0061. Genet Test. 2008. PMID: 19072569

6

Congenital lamellar ichthyosis in Tunisia is caused by a founder nonsense mutation in the TGM1 gene.

Louhichi N, Hadjsalem I, Marrakchi S, Trabelsi F, Masmoudi A, Turki H, Fakhfakh F. Louhichi N, et al. Mol Biol Rep. 2013 Mar;40(3):2527-32. doi: 10.1007/s11033-012-2333-1. Epub 2012 Nov 29. Mol Biol Rep. 2013. PMID: 23192619 Free PMC article.

7

Splicing defects in ABCD1 gene leading to both exon skipping and partial intron retention in X-linked adrenoleukodystrophy Tunisian patient.

Kallabi F, Hadj Salem I, Ben Chehida A, Ben Salah G, Ben Turkia H, Tebib N, Keskes L, Kamoun H. Kallabi F, et al. Among authors: hadj salem i. Neurosci Res. 2015 Aug;97:7-12. doi: 10.1016/j.neures.2015.03.005. Epub 2015 Mar 31. Neurosci Res. 2015. PMID: 25835712

8

Congenital factor XIII deficiency caused by two mutations in eight Tunisian families: molecular confirmation of a founder effect.

Louhichi N, Medhaffar M, Hadjsalem I, Mkaouar-Rebai E, Fendri-Kriaa N, Kanoun H, Yaïch F, Souissi T, Elloumi M, Fakhfakh F. Louhichi N, et al. Ann Hematol. 2010 May;89(5):499-504. doi: 10.1007/s00277-009-0863-y. Epub 2009 Nov 24. Ann Hematol. 2010. PMID: 19937244

9

Mutations in LAMA2 and CAPN3 genes associated with genetic and phenotypic heterogeneities within a single consanguineous family involving both congenital and progressive muscular dystrophies.

Hadj Salem I, Kamoun F, Louhichi N, Rouis S, Mziou M, Fendri-Kriaa N, Makni-Ayadi F, Triki C, Fakhfakh F. Hadj Salem I, et al. Biosci Rep. 2011 Apr;31(2):125-35. doi: 10.1042/BSR20100026. Biosci Rep. 2011. PMID: 20477750

10

A whole mitochondrial genome screening in a MELAS patient: a novel mitochondrial tRNA(Val) mutation.

Mezghani N, Mnif M, Kacem M, Mkaouar-Rebai E, Hadj Salem I, Kallel N, Charfi N, Abid M, Fakhfakh F. Mezghani N, et al. Among authors: hadj salem i. Biochem Biophys Res Commun. 2011 Apr 22;407(4):747-52. doi: 10.1016/j.bbrc.2011.03.094. Epub 2011 Apr 3. Biochem Biophys Res Commun. 2011. PMID: 21447323

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