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Items: 1 to 20 of 23

1.

Lactase persistence in Tunisia as a result of admixture with other Mediterranean populations.

Ben Halima Y, Kefi R, Sazzini M, Giuliani C, De Fanti S, Nouali C, Nagara M, Mengozzi G, Elouej S, Abid A, Jamoussi H, Chouchane L, Romeo G, Abdelhak S, Luiselli D.

Genes Nutr. 2017 Aug 24;12:20. doi: 10.1186/s12263-017-0573-3. eCollection 2017.

2.

Using KASP technique to screen LRRK2 G2019S mutation in a large Tunisian cohort.

Landoulsi Z, Benromdhan S, Ben Djebara M, Damak M, Dallali H, Kefi R, Abdelhak S, Gargouri-Berrechid A, Mhiri C, Gouider R.

BMC Med Genet. 2017 Jul 6;18(1):70. doi: 10.1186/s12881-017-0432-5.

3.

Identification of a Novel Mutation of LAMB3 Gene in a Lybian Patient with Hereditary Epidermolysis Bullosa by Whole Exome Sequencing.

Laroussi N, Messaoud O, Chargui M, Ben Fayala C, Elahlafi A, Mokni M, Bashamboo A, McElreavey K, Boubaker MS, Yacoub Youssef H, Abdelhak S.

Ann Dermatol. 2017 Apr;29(2):243-246. doi: 10.5021/ad.2017.29.2.243. Epub 2017 Mar 24. No abstract available.

4.

Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients.

Riahi Z, Bonnet C, Zainine R, Lahbib S, Bouyacoub Y, Bechraoui R, Marrakchi J, Hardelin JP, Louha M, Largueche L, Ben Yahia S, Kheirallah M, Elmatri L, Besbes G, Abdelhak S, Petit C.

PLoS One. 2015 Mar 23;10(3):e0120584. doi: 10.1371/journal.pone.0120584. eCollection 2015.

5.

Molecular investigation of distal renal tubular acidosis in Tunisia, evidence for founder mutations.

Nagara M, Voskarides K, Nouira S, Ben Halim N, Kefi R, Aloulou H, Romdhane L, Ben Abdallah R, Ben Rhouma F, Aissa K, Boughamoura L, Kammoun T, Azzouz H, Abroug S, Ben Turkia H, Ayadi A, Mrad R, Chabchoub I, Hachicha M, Chemli J, Deltas C, Abdelhak S.

Genet Test Mol Biomarkers. 2014 Nov;18(11):741-8. doi: 10.1089/gtmb.2014.0175. Epub 2014 Oct 6.

6.

Evidence for association of the E23K variant of KCNJ11 gene with type 2 diabetes in Tunisian population: population-based study and meta-analysis.

Lasram K, Ben Halim N, Hsouna S, Kefi R, Arfa I, Ghazouani W, Jamoussi H, Benrahma H, Kharrat N, Rebai A, Ben Ammar S, Bahri S, Barakat A, Abid A, Abdelhak S.

Biomed Res Int. 2014;2014:265274. doi: 10.1155/2014/265274. Epub 2014 Jul 7.

7.

Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness.

Riahi Z, Bonnet C, Zainine R, Louha M, Bouyacoub Y, Laroussi N, Chargui M, Kefi R, Jonard L, Dorboz I, Hardelin JP, Salah SB, Levilliers J, Weil D, McElreavey K, Boespflug OT, Besbes G, Abdelhak S, Petit C.

PLoS One. 2014 Jun 13;9(6):e99797. doi: 10.1371/journal.pone.0099797. eCollection 2014.

8.

A founder large deletion mutation in Xeroderma pigmentosum-Variant form in Tunisia: implication for molecular diagnosis and therapy.

Ben Rekaya M, Laroussi N, Messaoud O, Jones M, Jerbi M, Naouali C, Bouyacoub Y, Chargui M, Kefi R, Fazaa B, Boubaker MS, Boussen H, Mokni M, Abdelhak S, Zghal M, Khaled A, Yacoub-Youssef H.

Biomed Res Int. 2014;2014:256245. doi: 10.1155/2014/256245. Epub 2014 May 4.

9.

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.

Mol Genet Genomic Med. 2014 Mar;2(2):160-5. doi: 10.1002/mgg3.55. Epub 2014 Feb 5.

10.

Clinical polymorphism of stargardt disease in a large consanguineous tunisian family; implications for nosology.

El Matri L, Ouechtati F, Chebil A, Largueche L, Abdelhak S.

J Ophthalmic Vis Res. 2013 Oct;8(4):341-50.

11.

Particular Mal de Meleda phenotypes in Tunisia and mutations founder effect in the Mediterranean region.

Bchetnia M, Laroussi N, Youssef M, Charfeddine C, Ben Brick AS, Boubaker MS, Mokni M, Abdelhak S, Zili J, Benmously R.

Biomed Res Int. 2013;2013:206803. doi: 10.1155/2013/206803. Epub 2013 Sep 4.

12.

Further evidence of mutational heterogeneity of the XPC gene in Tunisian families: a spectrum of private and ethnic specific mutations.

Ben Rekaya M, Jerbi M, Messaoud O, Ben Brick AS, Zghal M, Mbarek C, Chadli-Debbiche A, Jones M, Mokni M, Boussen H, Boubaker MS, Fazaa B, Yacoub-Youssef H, Abdelhak S.

Biomed Res Int. 2013;2013:316286. doi: 10.1155/2013/316286. Epub 2013 Jul 25.

13.

Consanguinity, endogamy, and genetic disorders in Tunisia.

Ben Halim N, Ben Alaya Bouafif N, Romdhane L, Kefi Ben Atig R, Chouchane I, Bouyacoub Y, Arfa I, Cherif W, Nouira S, Talmoudi F, Lasram K, Hsouna S, Ghazouani W, Azaiez H, El Matri L, Abid A, Tebib N, Ben Dridi MF, Kachboura S, Amouri A, Mokni M, Ben Arab S, Dellagi K, Abdelhak S.

J Community Genet. 2013 Apr;4(2):273-84. doi: 10.1007/s12687-012-0128-7. Epub 2012 Dec 4. No abstract available.

14.

Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.

Basel-Vanagaite L, Dallapiccola B, Ramirez-Solis R, Segref A, Thiele H, Edwards A, Arends MJ, Miró X, White JK, Désir J, Abramowicz M, Dentici ML, Lepri F, Hofmann K, Har-Zahav A, Ryder E, Karp NA, Estabel J, Gerdin AK, Podrini C, Ingham NJ, Altmüller J, Nürnberg G, Frommolt P, Abdelhak S, Pasmanik-Chor M, Konen O, Kelley RI, Shohat M, Nürnberg P, Flint J, Steel KP, Hoppe T, Kubisch C, Adams DJ, Borck G.

Am J Hum Genet. 2012 Dec 7;91(6):998-1010. doi: 10.1016/j.ajhg.2012.10.011. Epub 2012 Nov 29.

15.

Genome-Wide Association Studies (GWAS) breast cancer susceptibility loci in Arabs: susceptibility and prognostic implications in Tunisians.

Shan J, Mahfoudh W, Dsouza SP, Hassen E, Bouaouina N, Abdelhak S, Benhadjayed A, Memmi H, Mathew RA, Aigha II, Gabbouj S, Remadi Y, Chouchane L.

Breast Cancer Res Treat. 2012 Oct;135(3):715-24. doi: 10.1007/s10549-012-2202-6. Epub 2012 Aug 22.

16.

Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East.

Romdhane L, Kefi R, Azaiez H, Ben Halim N, Dellagi K, Abdelhak S.

Orphanet J Rare Dis. 2012 Aug 21;7:52. doi: 10.1186/1750-1172-7-52.

17.

Adult Gaucher disease in southern Tunisia: report of three cases.

Ben Rhouma F, Kallel F, Kefi R, Cherif W, Nagara M, Azaiez H, Jedidi I, Elloumi M, Abdelhak S, Mseddi S.

Diagn Pathol. 2012 Jan 10;7:4. doi: 10.1186/1746-1596-7-4.

18.

Systems medicine and integrated care to combat chronic noncommunicable diseases.

Bousquet J, Anto JM, Sterk PJ, Adcock IM, Chung KF, Roca J, Agusti A, Brightling C, Cambon-Thomsen A, Cesario A, Abdelhak S, Antonarakis SE, Avignon A, Ballabio A, Baraldi E, Baranov A, Bieber T, Bockaert J, Brahmachari S, Brambilla C, Bringer J, Dauzat M, Ernberg I, Fabbri L, Froguel P, Galas D, Gojobori T, Hunter P, Jorgensen C, Kauffmann F, Kourilsky P, Kowalski ML, Lancet D, Pen CL, Mallet J, Mayosi B, Mercier J, Metspalu A, Nadeau JH, Ninot G, Noble D, Oztürk M, Palkonen S, Préfaut C, Rabe K, Renard E, Roberts RG, Samolinski B, Schünemann HJ, Simon HU, Soares MB, Superti-Furga G, Tegner J, Verjovski-Almeida S, Wellstead P, Wolkenhauer O, Wouters E, Balling R, Brookes AJ, Charron D, Pison C, Chen Z, Hood L, Auffray C.

Genome Med. 2011 Jul 6;3(7):43. doi: 10.1186/gm259.

19.

Coexistence of mal de Meleda and congenital cataract in a consanguineous Tunisian family: two case reports.

Bchetnia M, Merdassi A, Charfeddine C, Mgaieth F, Kassar S, Ouechtati F, Chouchene I, Boussen H, Mokni M, Osman AD, Boubaker MS, Abdelhak S, Elmatri L.

J Med Case Rep. 2010 Apr 20;4:108. doi: 10.1186/1752-1947-4-108.

20.

Familial aggregation and excess maternal transmission of type 2 diabetes in Tunisia.

Arfa I, Abid A, Malouche D, Ben Alaya N, Azegue TR, Mannai I, Zorgati MM, Ben Rayana MC, Ben Ammar S, Blousa-Chabchoub S, Ben Romdhane H, Zouari B, Dellagi MK, Abdelhak S.

Postgrad Med J. 2007 May;83(979):348-51.

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