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Page 1
High frequency of exon 15 deletion in the FANCA gene in Tunisian patients affected with Fanconi anemia disease: implication for diagnosis.
Amouri A, Talmoudi F, Messaoud O, d'Enghien CD, Rekaya MB, Allegui I, Azaiez H, Kefi R, Abdelhak A, Meseddi SH, Torjemane L, Ouederni M, Mellouli F, Abid HB, Aissaoui L, Bejaoui M, Othmen TB, Lyonnet DS, Soulier J, Hachicha M, Dellagi K, Abdelhak S, Fanconi T. Amouri A, et al. Among authors: rekaya mb. Mol Genet Genomic Med. 2014 Mar;2(2):160-5. doi: 10.1002/mgg3.55. Epub 2014 Feb 5. Mol Genet Genomic Med. 2014. PMID: 24689079 Free PMC article.
Case Report: Identification of Novel Variants in ERCC4 and DDB2 Genes in Two Tunisian Patients With Atypical Xeroderma Pigmentosum Phenotype.
Nabouli I, Chikhaoui A, Othman H, Elouej S, Jones M, Lagarde A, Rekaya MB, Messaoud O, Zghal M, Delague V, Levy N, De Sandre-Giovannoli A, Abdelhak S, Yacoub-Youssef H. Nabouli I, et al. Among authors: rekaya mb. Front Genet. 2021 May 31;12:650639. doi: 10.3389/fgene.2021.650639. eCollection 2021. Front Genet. 2021. PMID: 34135938 Free PMC article.
Cytogenetic assessment of Fanconi anemia in children with aplastic anemia in Tunisia.
Talmoudi F, Kammoun L, Benhalim N, Torjemane L, Ouederni M, Aissaoui L, Lakhal A, Mellouli F, Othmen TB, Bejaoui M, Abdelhak S, Meddeb M, Dellagi K, Hdiji S, Amouri A; Tunisian Fanconi Anemia Study Group. Talmoudi F, et al. J Pediatr Hematol Oncol. 2013 Oct;35(7):547-50. doi: 10.1097/MPH.0b013e31827e56cb. J Pediatr Hematol Oncol. 2013. PMID: 23337544
Severe phenotypes in two Tunisian families with novel XPA mutations: evidence for a correlation between mutation location and disease severity.
Messaoud O, Rekaya MB, Ouragini H, Benfadhel S, Azaiez H, Kefi R, Gouider-Khouja N, Mokhtar I, Amouri A, Boubaker MS, Zghal M, Abdelhak S. Messaoud O, et al. Among authors: rekaya mb. Arch Dermatol Res. 2012 Mar;304(2):171-6. doi: 10.1007/s00403-011-1190-4. Epub 2011 Nov 12. Arch Dermatol Res. 2012. PMID: 22081045