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authFullName_s : Cherine Charfeddine

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

Mbarka Bchetnia , Ahlem Merdassi , Cherine Charfeddine , Fatma Mgaieth , Selma Kassar , et al.
Journal of Medical Case Reports, 2010, 4, pp.108. ⟨10.1186/1752-1947-4-108⟩
Journal articles pasteur-00620998v1

Immunohistological study of involucrin expression in Darier's disease skin

Selma Kassar , Cherine Charfeddine , Hela Zribi , Haifa Tounsi-Kettiti , Mbarka. Bchetnia , et al.
Journal of Cutaneous Pathology, 2008, 35 (7), pp.635 - 640. ⟨10.1111/j.1600-0560.2007.00880.x⟩
Journal articles istex pasteur-01375221v1
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Expanding the clinical phenotype associated with NIPAL4 mutation: Study of a Tunisian consanguineous family with erythrokeratodermia variabilis—Like Autosomal Recessive Congenital Ichthyosis

Cherine Charfeddine , Nadia Laroussi , Rahma Mkaouar , Raja Jouini , Olfa Khayat , et al.
PLoS ONE, 2021, 16 (10), pp.e0258777. ⟨10.1371/journal.pone.0258777⟩
Journal articles pasteur-03541087v1
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Spectrum of Genetic Diseases in Tunisia: Current Situation and Main Milestones Achieved

Nessrine Mezzi , Olfa Messaoud , Rahma Mkaouar , Nadia Zitouna , Safa Romdhane , et al.
Genes, 2021, 12 (11), pp.1820. ⟨10.3390/genes12111820⟩
Journal articles pasteur-03550396v1

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

Yosra Bouyacoub , Hela Zribi , Hatem Azzouz , Fehmi Nasrallah , Rim Ben Abdelaziz , et al.
Gene, 2013, 529 (1), pp.45-9. ⟨10.1016/j.gene.2013.07.066⟩
Journal articles pasteur-00861205v1
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Identification of a CDH12 potential candidate genetic variant for an autosomal dominant form of transgrediens and progrediens palmoplantar keratoderma in a Tunisian family

Cherine Charfeddine , Hamza Dallali , Ghaith Abdessalem , Kais Ghedira , Yosr Hamdi , et al.
Journal of Human Genetics, 2020, 65 (4), pp.397 - 410. ⟨10.1038/s10038-019-0711-4⟩
Journal articles pasteur-03261809v1

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

Sonia Nouira , Fatma Ouarda , Cherine Charfeddine , Imen Arfa , Houyem Ouragini , et al.
Heart & Lung, 2010, 39 (5), pp.432-6. ⟨10.1016/j.hrtlng.2009.10.012⟩
Journal articles istex pasteur-00612166v1
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Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment

Rahma Mkaouar , Zied Riahi , Cherine Charfeddine , Imen Chelly , Hela Boudabbous , et al.
PLoS ONE, 2021, 16 (10), pp.e0258202. ⟨10.1371/journal.pone.0258202⟩
Journal articles pasteur-04072687v1

Particular Mal de Meleda Phenotypes in Tunisia and Mutations Founder Effect in the Mediterranean Region

Mbarka Bchetnia , Nadia Laroussi , Monia Youssef , Cherine Charfeddine , Ahlem Sabrine Ben Brick , et al.
BioMed Research International , 2013, ⟨10.1155/2013/206803⟩
Journal articles hal-01358532v1
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Clinical and Genetic Investigation of Atrial Septal Defect with Atrioventricular Conduction Defect in a Large Consanguineous Tunisian Family

Sonia Nouira , Ikram Kamoun , Houyem Ouragini , Cherine Charfeddine , Haifa Mahjoub , et al.
Archives of Medical Research, 2008, 39 (4), pp.429 - 433. ⟨10.1016/j.arcmed.2008.01.002⟩
Journal articles pasteur-01375202v1

New mutations of Darier disease in Tunisian patients.

Mbarka Bchetnia , Rym Benmously , Ahlem Sabrine Ben Brick , Cherine Charfeddine , Youssef Ben Ameur , et al.
Archives of Dermatological Research, 2009, 301 (8), pp.615-9. ⟨10.1007/s00403-009-0963-5⟩
Journal articles istex pasteur-00865888v1

Clinical and Mutational Heterogeneity of Darier Disease in Tunisian Families

Mbarka Bchetnia , Cherine Charfeddine , Selma Kassar , Hela Zribi , Haifa Tounsi Guettiti , et al.
Archives of Dermatology -Chicago-, 2009, 145 (6), pp.654-656. ⟨10.1001/archdermatol.2009.52⟩
Journal articles pasteur-01375191v1

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

Cherine Charfeddine , Mourad Mokni , Selma Kassar , Hela Zribi , Chiraz Bouchlaka , et al.
Journal of Human Genetics, 2006, 51 (10), pp.841 - 845. ⟨10.1007/s10038-006-0002-8⟩
Journal articles pasteur-01375261v1