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authFullName_s : S. Abdelhak
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Darier's disease: An evaluation of its neuropsychiatric component

M. Cheour , H. Zribi , S. Abdelhak , S. Drira , A. Ben Osman
L'Encéphale, 2009, 35 (1), pp.32-35. ⟨10.1016/j.encep.2007.09.009⟩
Journal articles pasteur-01375184v1

Comorbidity in the Tunisian population

L. Romdhane , O. Messaoud , Y. Bouyacoub , E. Kerkeni , C. Naouali , et al.
Clinical Genetics, 2016, 89 (3), pp.312 - 319. ⟨10.1111/cge.12616⟩
Journal articles istex pasteur-01374974v1

Biotinidase deficiency: Novel mutations in Algerian patients.

A. Tiar , A. Mekki , M. Nagara , F Ben Rhouma , O. Messaoud , et al.
Gene, 2013, epub ahead of print. ⟨10.1016/j.gene.2013.02.011⟩
Journal articles pasteur-00860037v1

Homogénéité mutationnelle de la glycogénose de type Ia en Tunisie.

W. Cherif , F Ben Rhouma , a Ben Chehida , H. Azzouz , K. Monastiri , et al.
Pathologie Biologie, 2011, 59 (4), pp.e93-6. ⟨10.1016/j.patbio.2009.05.004⟩
Journal articles istex pasteur-00865649v1

[Neurologic manifestations of Behcet's disease: analysis of a series of 27 patients]

M.H. Houman , S. Hamzaoui-B’chir , I. Ben Ghorbel , M. Lamloum , M. Ben Ahmed , et al.
La Revue de Médecine Interne, 2002, 23 (7), pp.592-606. ⟨10.1016/S0248-8663(02)00621-5⟩
Journal articles istex pasteur-02020590v1

NLRP7 and the genetics of post-molar choriocarcinomas in Senegal

R. Slim , P. Coullin , A. Diatta , W. Chebaro , D. Courtin , et al.
Molecular Human Reproduction, 2012, 18 (1), pp.52 - 56. ⟨10.1093/molehr/gar060⟩
Journal articles pasteur-01375139v1

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

S. Nouira , I. Arfa , Imen Kmmoun.I , A. Abid , H. Ouragini , et al.
Diabetes Research and Clinical Practice, 2010, 87 (2), pp.e7-10. ⟨10.1016/j.diabres.2009.11.009⟩
Journal articles istex pasteur-00621006v1

[Biochemical and molecular diagnosis of primary hyperoxaluria type 1: Tunisian study about 15 cases].

R. Belhaj , N. Hayder , T. Gargueh , M. Zorguati , O. Marrakchi , et al.
Pathologie Biologie, 2011, 59 (4), pp.e97-102. ⟨10.1016/j.patbio.2009.05.009⟩
Journal articles istex pasteur-00714083v1

Genetic and mutational heterogeneity of autosomal recessive chronic granulomatous disease in Tunisia

R. El Kares , Mohamed-Ridha Barbouche , H. Elloumi-Zghal , M. Bejaoui , J. Chemli , et al.
Journal of Human Genetics, 2006, 51 (10), pp.887-895. ⟨10.1007/s10038-006-0039-8⟩
Journal articles pasteur-01375263v1

Retinal dystrophy and congenital glaucoma as major causes of vision loss in students attending two institutions for the visually disabled in Tunis city, Tunisia.

I. Chouchene , K. Derouiche , N. Ben Halim , A. Merdassi , R. Limaiem , et al.
Journal Français d'Ophtalmologie, 2014, 37 (9), pp.695-701. ⟨10.1016/j.jfo.2014.03.010⟩
Journal articles pasteur-01375050v1

Xeroderma pigmentosum

M. Zghal , B. Fazaa , S. Abdelhak , M. Mokni
Annales de Dermatologie et de Vénéréologie, 2018, 145 (11), pp.706-722. ⟨10.1016/j.annder.2018.09.004⟩
Journal articles pasteur-01946461v1

Genetic basis of dominant dystrophic epidermolysis bullosa in tunisian families and co-occurrence of dominant and recessive mutations.

A. S. Ben Brick , N. Laroussi , H. Mesrati , R. Kefi , H. Ouragini , et al.
Journal of the European Academy of Dermatology and Venereology, 2014, epub ahead of print. ⟨10.1111/jdv.12645⟩
Journal articles istex pasteur-01059861v1
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Identification of a novel mutation of LAMB3 gene in a lybian patient with hereditary epidermolysis bullosa by whole exome sequencing

N. Laroussi , O. Messaoud , M. Chargui , C.B. Fayala , A. Elahlafi , et al.
Annals of Dermatology, 2017, 29 (2), pp.243-246. ⟨10.5021/ad.2017.29.2.243⟩
Journal articles hal-01534741v1

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

M. Ben Rekaya , O. Messaoud , F. Talmoudi , S. Nouira , H. Ouragini , et al.
Journal of Human Genetics, 2009, 54 (7), pp.426-429. ⟨10.1038/jhg.2009.50⟩
Journal articles pasteur-01375193v1
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Severe phenotypes in two Tunisian families with novel XPA mutations: evidence for a correlation between mutation location and disease severity.

O. Messaoud , M Ben Rekaya , H. Ouragini , S. Benfadhel , H. Azaiez , et al.
Archives of Dermatological Research, 2012, 304 (2), pp.171-6. ⟨10.1007/s00403-011-1190-4⟩
Journal articles istex pasteur-00734400v1

Particular forms of xeroderma pigmentosum and Cockayne syndrome in the Tunisian population

A. Chikhaoui , I. Krawa , N. Calmels , C. Obringer , Sahar Elouej , et al.
British Journal of Dermatology, 2019, 180 (6), pp.E224-E225. ⟨10.1111/bjd.17877⟩
Journal articles hal-02461446v1

The Experience of a Tunisian Referral Centre in Prenatal Diagnosis of Xeroderma pigmentosum

O. Messaoud , M. Ben Rekaya , M. Jerbi , I. Ouertani , R. Kefi , et al.
Public Health Genomics, 2013, 16 (5), pp.251 - 254. ⟨10.1159/000354584⟩
Journal articles pasteur-01375121v1

Diagnostic moléculaire de la maladie de Gaucher en Tunisie

W. Cherif , H. Ben Turkia , F. Ben Rhouma , I. Riahi , J. Chemli , et al.
Pathologie Biologie, 2012, 61 (2), pp.59-63. ⟨10.1016/j.patbio.2012.03.006⟩
Journal articles pasteur-00733195v1

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

C. Charfeddine , M. Mokni , R. Ben Mousli , R. Elkares , C. Bouchlaka , et al.
British Journal of Dermatology, 2003, 149 (6), pp.1108-1115. ⟨10.1111/j.1365-2133.2003.05606.x⟩
Journal articles istex pasteur-02020370v1

A novel large deletion in CCM1 gene in a Tunisian family

F. Tinsa , I. Bel Hadj , F. Riant , M. Ben Romdhane , I. Brini , et al.
Revue Neurologique, 2019, 175 (3), pp.194-197. ⟨10.1016/j.neurol.2018.04.013⟩
Journal articles pasteur-01947926v1

Thiamine responsive megaloblastic anemia mimicking mitochondrial disorders

F. Tinsa , M. Hechmi , I.B. Hadj , F. Khalsi , M. Chargui , et al.
Revue Neurologique, 2019, 175 (5), pp.324-327. ⟨10.1016/j.neurol.2018.07.008⟩
Journal articles pasteur-01999932v1

Identification of a primarily neurological phenotypic expression of xeroderma pigmentosum complementation group A in a Tunisian family.

O. Messaoud , M. Ben Rekaya , R. Kefi , S. Chebel , A. Boughammoura-Bouatay , et al.
British Journal of Dermatology, 2010, 162 (4), pp.883-6. ⟨10.1111/j.1365-2133.2010.09646.x⟩
Journal articles istex pasteur-00612157v1