Publications


Identification of a Novel Mutation ofGene in a Lybian Patient with Hereditary Epidermolysis Bullosa by Whole Exome Sequencing.
Ann Dermatol 2017 Apr 24;29(2):243-246. Epub 2017 Mar 24.
Biomedical Genomics and Oncogenetics Laboratory LR11IPT05, Pasteur Institute of Tunis, University of Tunis El Manar, Tunis, Tunisia.


Novel and recurrent mutations in the TAT gene in Tunisian families affected with Richner-Hanhart syndrome.
Gene 2013 Oct 13;529(1):45-9. Epub 2013 Aug 13.
Université Tunis El Manar, Institut Pasteur de Tunis, LR11IPT05, Génomique Biomédicale et Oncogénétique, 1002 Tunis,Tunisia; Université de Monastire, Institut Supérieur de Biotechnologie, Monastir 5000, Tunisia.



Association analysis of LCE3C-LCE3B deletion in Tunisian psoriatic population.
Arch Dermatol Res 2012 Nov 29;304(9):733-8. Epub 2012 Aug 29.
Laboratory of Genetics, Immunology and Human Pathologies, Department of Biology, Tunis, Tunisia.

A novel POLH gene mutation in a xeroderma pigmentosum-V Tunisian patient: phenotype-genotype correlation.
J Genet 2011 Dec;90(3):483-7
Molecular Investigation of Genetic Orphan Diseases Research Unit, Pasteur Institute of Tunis, 13 Place Pasteur, BP 74, 1002 Tunis Belvedere, Tunisia.



New mutations of Darier disease in Tunisian patients.
Arch Dermatol Res 2009 Sep 2;301(8):615-9. Epub 2009 Jun 2.
Molecular Investigation of Genetic Orphan Diseases Research Unit, Institut Pasteur de Tunis, Pasteur, 1002 Tunis Belvédère, Tunisia.

Further evidence of mutational heterogeneity of the XPC gene in Tunisian families: a spectrum of private and ethnic specific mutations.
Biomed Res Int 2013 25;2013:316286. Epub 2013 Jul 25.
Laboratoire de Génomique Biomédicale et Oncogénétique, LR 11 IPT 05, Institut Pasteur de Tunis and Université de Tunis El Manar, El Manar I, 2092 Tunis, Tunisia.

Particular Mal de Meleda phenotypes in Tunisia and mutations founder effect in the Mediterranean region.
Biomed Res Int 2013 4;2013:206803. Epub 2013 Sep 4.
Université de Tunis El Manar, Institut Pasteur de Tunis, Laboratoire de Génomique Biomédicale et Oncogénétique (LR11IPT05), BP74, 13 Place Pasteur, Belvédère, 1002 Tunis, Tunisia.

A founder large deletion mutation in Xeroderma pigmentosum-Variant form in Tunisia: implication for molecular diagnosis and therapy.
Biomed Res Int 2014 4;2014:256245. Epub 2014 May 4.
Laboratoire de Génomique Biomédicale et Oncogénétique (LR 11 IPT 05), Institut Pasteur de Tunis, Université de Tunis El Manar, El Manar I, BP 74, 13 Place Pasteur 1002 Tunis Belvédère, 2092 Tunis, Tunisia.

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