Ouragini H - Search Results

1

Clinical and genetic investigation of atrial septal defect with atrioventricular conduction defect in a large consanguineous Tunisian family.

Nouira S, Kamoun I, Ouragini H, Charfeddine C, Mahjoub H, Ouechtati F, Bchetnia M, Ben Halima A, Abdelhak S, Kachboura S. Nouira S, et al. Among authors: ouragini h. Arch Med Res. 2008 May;39(4):429-33. doi: 10.1016/j.arcmed.2008.01.002. Epub 2008 Feb 13. Arch Med Res. 2008. PMID: 18375255

2

Genetic analysis of hereditary multiple exostoses in Tunisian families: a novel frame-shift mutation in the EXT1 gene.

Sfar S, Abid A, Mahfoudh W, Ouragini H, Ouechtati F, Abdelhak S, Chouchane L. Sfar S, et al. Among authors: ouragini h. Mol Biol Rep. 2009 Apr;36(4):661-7. doi: 10.1007/s11033-008-9226-3. Epub 2008 Mar 11. Mol Biol Rep. 2009. PMID: 18330718

3

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. 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

4

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. 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

5

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: ouragini h. 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

6

Identification of two novel variants in PRKAG2 gene in Tunisian type 2 diabetic patients with family history of cardiovascular disease.

Nouira S, Arfa I, Kammoun I, Abid A, Ouragini H, Dorboz I, Ghazouani W, Fadhel SB, Zorgati MM, Ammar SB, Blousa-Chabchoub S, Kachboura S, Abdelhak S. Nouira S, et al. Among authors: ouragini h. Diabetes Res Clin Pract. 2010 Feb;87(2):e7-10. doi: 10.1016/j.diabres.2009.11.009. Epub 2009 Dec 22. Diabetes Res Clin Pract. 2010. PMID: 20022652

7

Clinical and genetic investigation of pediatric cases of Wolff-Parkinson-White syndrome in Tunisian families.

Nouira S, Ouarda F, Charfeddine C, Arfa I, Ouragini H, Abid F, Abdelhak S. Nouira S, et al. Among authors: ouragini h. Heart Lung. 2010 Sep-Oct;39(5):432-6. doi: 10.1016/j.hrtlng.2009.10.012. Epub 2010 Apr 24. Heart Lung. 2010. PMID: 20561859

8

Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene.

Ouechtati F, Merdassi A, Bouyacoub Y, Largueche L, Derouiche K, Ouragini H, Nouira S, Tiab L, Baklouti K, Rebai A, Schorderet DF, Munier FL, Zografos L, Abdelhak S, El Matri L. Ouechtati F, et al. Among authors: ouragini h. J Hum Genet. 2011 Jan;56(1):22-8. doi: 10.1038/jhg.2010.128. Epub 2010 Nov 25. J Hum Genet. 2011. PMID: 21107338

9

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: ouragini h. 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

10

Update of the spectrum of GJB2 gene mutations in Tunisian families with autosomal recessive nonsyndromic hearing loss.

Riahi Z, Hammami H, Ouragini H, Messai H, Zainine R, Bouyacoub Y, Romdhane L, Essaid D, Kefi R, Rhimi M, Bedoui M, Dhaouadi A, Feldmann D, Jonard L, Besbes G, Abdelhak S. Riahi Z, et al. Among authors: ouragini h. Gene. 2013 Aug 1;525(1):1-4. doi: 10.1016/j.gene.2013.04.078. Epub 2013 May 13. Gene. 2013. PMID: 23680645

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