Boubaker S - Search Results

1

Haplotypic classification of dystrophic epidermolysis bullosa in Tunisian consanguineous families: implication for diagnosis.

Ouragini H, Cherif F, Daoud W, Kassar S, Charfeddine C, Rebaï A, Boubaker S, Ben Osman-Dhahri A, Abdelhak S. Ouragini H, et al. Among authors: boubaker s. Arch Dermatol Res. 2008 Aug;300(7):365-70. doi: 10.1007/s00403-008-0861-2. Epub 2008 May 22. Arch Dermatol Res. 2008. PMID: 18496702

2

Dystrophic epidermolysis bullosa phenotypes in a large consanguineous Tunisian family.

Ouragini H, Cherif F, Kassar S, Floriddia G, Pascucci M, Daoud W, Osman-Dhahri AB, Boubaker S, Castiglia D, Abdelhak S. Ouragini H, et al. Among authors: boubaker s. J Dermatol Sci. 2009 May;54(2):114-20. doi: 10.1016/j.jdermsci.2009.01.006. Epub 2009 Mar 3. J Dermatol Sci. 2009. PMID: 19261445

3

Clinical and mutational heterogeneity of Darier disease in Tunisian families.

Bchetnia M, Charfeddine C, Kassar S, Zribi H, Guettiti HT, Ellouze F, Cheour M, Boubaker S, Osman AD, Abdelhak S, Mokni M. Bchetnia M, et al. Among authors: boubaker s. Arch Dermatol. 2009 Jun;145(6):654-6. doi: 10.1001/archdermatol.2009.52. Arch Dermatol. 2009. PMID: 19528419

4

Further evidence of the clinical and genetic heterogeneity of recessive transgressive PPK in the Mediterranean region.

Charfeddine C, Mokni M, Kassar S, Zribi H, Bouchlaka C, Boubaker S, Rebai A, Ben Osman A, Abdelhak S. Charfeddine C, et al. Among authors: boubaker s. J Hum Genet. 2006;51(10):841-845. doi: 10.1007/s10038-006-0002-8. Epub 2006 Jul 25. J Hum Genet. 2006. PMID: 16865292

5

Clinical, histological and genetic investigation of Buschke-Fischer-Brauer's disease in Tunisian families.

Bchetnia M, Charfeddine C, Kassar S, Hanchi I, Tounsi-Guettiti H, Rebai A, Osman AD, Kubisch C, Abdelhak S, Boubaker S, Mokni M. Bchetnia M, et al. Among authors: boubaker s. J Dermatol Sci. 2009 Apr;54(1):54-6. doi: 10.1016/j.jdermsci.2008.11.008. Epub 2009 Jan 10. J Dermatol Sci. 2009. PMID: 19136236 No abstract available.

6

Mutational survey of recessive dystrophic epidermolysis bullosa in Tunisian families unveils a spectrum of private, ethnic specific and world wide recurrent mutations.

Ouragini H, Cherif F, Brick SA, Nouira S, Floriddia G, Pascucci M, Kefi R, Daoud W, Mahdhaoui N, Kassar S, Mrad R, Kamoun MR, Ben Osman-Dhahri A, Denguezli M, Monastiri K, Seboui H, Mokni M, Boubaker S, Castiglia D, Abdelhak S. Ouragini H, et al. Among authors: boubaker s. J Dermatol Sci. 2010 Feb;57(2):144-6. doi: 10.1016/j.jdermsci.2009.12.001. Epub 2010 Jan 8. J Dermatol Sci. 2010. PMID: 20060269 No abstract available.

7

Novel and recurrent mutations in the TAT gene in Tunisian families affected with Richner-Hanhart syndrome.

Bouyacoub Y, Zribi H, Azzouz H, Nasrallah F, Abdelaziz RB, Kacem M, Rekaya B, Messaoud O, Romdhane L, Charfeddine C, Bouziri M, Bouziri S, Tebib N, Mokni M, Kaabachi N, Boubaker S, Abdelhak S. Bouyacoub Y, et al. Among authors: boubaker s. Gene. 2013 Oct 15;529(1):45-9. doi: 10.1016/j.gene.2013.07.066. Epub 2013 Aug 13. Gene. 2013. PMID: 23954227

8

A novel missense mutation in the gene encoding SLURP-1 in patients with Mal de Meleda from northern Tunisia.

Charfeddine C, Mokni M, Ben Mousli R, Elkares R, Bouchlaka C, Boubaker S, Ghedamsi S, Baccouche D, Ben Osman A, Dellagi K, Abdelhak S. Charfeddine C, et al. Among authors: boubaker s. Br J Dermatol. 2003 Dec;149(6):1108-15. doi: 10.1111/j.1365-2133.2003.05606.x. Br J Dermatol. 2003. PMID: 14674887

9

Clinical and mutational investigations of tyrosinemia type II in Northern Tunisia: identification and structural characterization of two novel TAT mutations.

Charfeddine C, Monastiri K, Mokni M, Laadjimi A, Kaabachi N, Perin O, Nilges M, Kassar S, Keirallah M, Guediche MN, Kamoun MR, Tebib N, Ben Dridi MF, Boubaker S, Ben Osman A, Abdelhak S. Charfeddine C, et al. Among authors: boubaker s. Mol Genet Metab. 2006 Jun;88(2):184-91. doi: 10.1016/j.ymgme.2006.02.006. Epub 2006 Mar 30. Mol Genet Metab. 2006. PMID: 16574453

10

High frequency of the V548A fs X572 XPC mutation in Tunisia: implication for molecular diagnosis.

Ben Rekaya M, Messaoud O, Talmoudi F, Nouira S, Ouragini H, Amouri A, Boussen H, Boubaker S, Mokni M, Mokthar I, Abdelhak S, Zghal M. Ben Rekaya M, et al. Among authors: boubaker s. J Hum Genet. 2009 Jul;54(7):426-9. doi: 10.1038/jhg.2009.50. Epub 2009 May 29. J Hum Genet. 2009. PMID: 19478817

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