Expanding the clinical phenotype associated with NIPAL4 mutation: Study of a Tunisian consanguineous family with erythrokeratodermia variabilis—Like Autosomal Recessive Congenital Ichthyosis
Charfeddine, Cherine, Laroussi, Nadia, Mkaouar, Rahma, Jouini, Raja, Khayat, Olfa, Redissi, Aladin, Mosbah, Amor, Dallali, Hamza, Chedly Debbiche, Achraf, Zaouak, Anissa, Fenniche, Sami, Abdelhak, Sonia, Hammami-Ghorbel, Houda
Published in PloS one (20.10.2021)
Published in PloS one (20.10.2021)
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Journal Article
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, Aladin Redissi, Amor Mosbah, Hamza Dallali, Achraf Chedly Debbiche, Anissa Zaouak, Sami Fenniche, Sonia Abdelhak, Houda Hammami-Ghorbel
Published in PloS one (20.10.2021)
Published in PloS one (20.10.2021)
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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
Charfeddine, Cherine, Dallali, Hamza, Abdessalem, Ghaith, Ghedira, Kais, Hamdi, Yosr, Elouej, Sahar, Landoulsi, Zied, Delague, Valérie, Lagarde, Arnaud, Levy, Nicolas, El-Amraoui, Aziz, Boubaker, Mohamed Samir, Abdelhak, Sonia, Mokni, Mourad
Published in Journal of human genetics (01.04.2020)
Published in Journal of human genetics (01.04.2020)
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Journal Article
Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment
Mkaouar, Rahma, Riahi, Zied, Charfeddine, Cherine, Chelly, Imen, Boudabbous, Hela, Dallali, Hamza, Bonnet, Crystel, Hechmi, Meriem, Bekri, Soumeya, Zitouna, Nadia, Zekri, Lotfi, Tounsi, Amel, Kefi, Rym, Marrakchi, Jihene, Messaoud, Olfa, Kraoua, Ichraf, Maalej, Sonia, Turki Ben Youssef, Ilhem, Ben Hmid, Ahlem, Giraudet, Fabrice, Bouchoucha, Sami, Tebib, Neji, Besbes, Ghazi, Petit, Christine, Mrad, Ridha, Abdelhak, Sonia, Trabelsi, Mediha
Published in PloS one (06.10.2021)
Published in PloS one (06.10.2021)
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Uncovering the clinical relevance of unclassified variants in DNA repair genes: a focus on BRCA negative Tunisian cancer families
Boujemaa, Maroua, Nouira, Fatma, Jandoubi, Nouha, Mejri, Nesrine, Bouaziz, Hanen, Charfeddine, Cherine, Ben Nasr, Sonia, Labidi, Soumaya, El Benna, Houda, Berrazega, Yosra, Rachdi, Haifa, Daoud, Nouha, Benna, Farouk, Haddaoui, Abderrazek, Abdelhak, Sonia, Samir Boubaker, Mohamed, Boussen, Hamouda, Hamdi, Yosr
Published in Frontiers in genetics (2024)
Published in Frontiers in genetics (2024)
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Corrigendum: Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health
Mkaouar, Rahma, Riahi, Zied, Marrakchi, Jihene, Mezzi, Nessrine, Romdhane, Lilia, Boujemaa, Maroua, Dallali, Hamza, Sayeb, Marwa, Lahbib, Saida, Jaouadi, Hajer, Boudabbous, Hela, Zekri, Lotfi, Chargui, Mariem, Messaoud, Olfa, Elyounsi, Meriem, Kraoua, Ichraf, Zaouak, Anissa, Turki, Ilhem, Mokni, Mourad, Boucher, Sophie, Petit, Christine, Giraudet, Fabrice, Mbarek, Chiraz, Besbes, Ghazi, Halayem, Soumeyya, Zainine, Rim, Turki, Hamida, Tounsi, Amel, Bonnet, CRYSTEL, Mrad, Ridha, Abdelhak, Sonia, Trabelsi, Mediha, Charfeddine, Cherine
Published in Frontiers in genetics (25.06.2024)
Published in Frontiers in genetics (25.06.2024)
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Journal Article
Alopecia patterns and trichoscopic findings in patients with autosomal recessive congenital ichthyosis
Zaouak, Anissa, Jouini, Wafa, Abdessalem, Ghaith, Abdelhak, Sonia, Hammami, Houda, Charfeddine, Cherine, Fenniche, Samy
Published in International journal of women's dermatology (01.10.2024)
Published in International journal of women's dermatology (01.10.2024)
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Journal Article
Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health
Mkaouar, Rahma, Riahi, Zied, Marrakchi, Jihene, Mezzi, Nessrine, Romdhane, Lilia, Boujemaa, Maroua, Dallali, Hamza, Sayeb, Marwa, Lahbib, Saida, Jaouadi, Hager, Boudabbous, Hela, Zekri, Lotfi, Chargui, Mariem, Messaoud, Olfa, Elyounsi, Meriem, Kraoua, Ichraf, Zaouak, Anissa, Turki, Ilhem, Mokni, Mourad, Boucher, Sophie, Petit, Christine, Giraudet, Fabrice, Mbarek, Chiraz, Besbes, Ghazi, Halayem, Soumeyya, Zainine, Rim, Turki, Hamida, Tounsi, Amel, Bonnet, Crystel, Mrad, Ridha, Abdelhak, Sonia, Trabelsi, Mediha, Charfeddine, Cherine
Published in Frontiers in genetics (22.04.2024)
Published in Frontiers in genetics (22.04.2024)
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Journal Article
Spectrum of Genetic Diseases in Tunisia: Current Situation and Main Milestones Achieved
Mezzi, Nessrine, Messaoud, Olfa, Mkaouar, Rahma, Zitouna, Nadia, Romdhane, Safa, Abdessalem, Ghaith, Charfeddine, Cherine, Maazoul, Faouzi, Ouerteni, Ines, Hamdi, Yosr, Zaouak, Anissa, Mrad, Ridha, Abdelhak, Sonia, Romdhane, Lilia
Published in Genes (19.11.2021)
Published in Genes (19.11.2021)
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Journal Article
Further evidence of the clinical and genetic heterogeneity of recessive transgressive PPK in the Mediterranean region
Charfeddine, Cherine, Mokni, Mourad, Kassar, Selma, Zribi, Hela, Bouchlaka, Chiraz, Boubaker, Samir, Rebai, Ahmed, Ben Osman, Amel, Abdelhak, Sonia
Published in Journal of human genetics (01.10.2006)
Published in Journal of human genetics (01.10.2006)
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Journal Article
The morbid cutaneous anatomy of the human genome revealed by a bioinformatic approach
Romdhane, Lilia, Bouhamed, Heni, Ghedira, Kais, Ben Hamda, Cherif, Louhichi, Amel, Jmel, Haifa, Romdhane, Safa, Charfeddine, Chérine, Mokni, Mourad, Abdelhak, Sonia, Rebai, Ahmed
Published in Genomics (San Diego, Calif.) (01.11.2020)
Published in Genomics (San Diego, Calif.) (01.11.2020)
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Journal Article
Clinical and genetic investigation of pediatric cases of Wolff-Parkinson-White syndrome in Tunisian families
Nouira, Sonia, PhD, Ouarda, Fatma, MD, Charfeddine, Cherine, PhD, Arfa, Imen, PhD, Ouragini, Houyem, Abid, Fekria, MD, Abdelhak, Sonia, PhD
Published in Heart & lung (01.09.2010)
Published in Heart & lung (01.09.2010)
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Journal Article
Clinical, histological and genetic investigation of Buschke–Fischer–Brauer's disease in Tunisian families
Bchetnia, Mbarka, Charfeddine, Cherine, Kassar, Selma, Hanchi, Imen, Tounsi-Guettiti, Haifa, Rebai, Ahmed, Osman, Amel Dhahri-Ben, Kubisch, Christian, Abdelhak, Sonia, Boubaker, Samir, Mokni, Mourad
Published in Journal of dermatological science (01.04.2009)
Published in Journal of dermatological science (01.04.2009)
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Journal Article
Haplotypic classification of dystrophic epidermolysis bullosa in Tunisian consanguineous families: implication for diagnosis
Ouragini, Houyem, Cherif, Faïka, Daoud, Wafa, Kassar, Selma, Charfeddine, Chérine, Rebaï, Ahmed, Boubaker, Samir, Ben Osman-Dhahri, Amel, Abdelhak, Sonia
Published in Archives of Dermatological Research (01.08.2008)
Published in Archives of Dermatological Research (01.08.2008)
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Journal Article
Coexistence of mal de Meleda and congenital cataract in a consanguineous Tunisian family: two case reports
Bchetnia, Mbarka, Merdassi, Ahlem, Charfeddine, Cherine, Mgaieth, Fatma, Kassar, Selma, Ouechtati, Farah, Chouchene, Ibtissem, Boussen, Hamouda, Mokni, Mourad, Osman, Amel Dhahri-Ben, Boubaker, Med Samir, Abdelhak, Sonia, Elmatri, Leila
Published in Journal of medical case reports (20.04.2010)
Published in Journal of medical case reports (20.04.2010)
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Journal Article
Clinical and mutational heterogeneity of Darier disease in Tunisian families
Bchetnia, Mbarka, Charfeddine, Cherine, Kassar, Selma, Zribi, Hela, Guettiti, Haifa Tounsi, Ellouze, Feten, Cheour, Mejda, Boubaker, Samir, Osman, Amel Dhahri-Ben, Abdelhak, Sonia, Mokni, Mourad
Published in Archives of dermatology (1960) (01.06.2009)
Published in Archives of dermatology (1960) (01.06.2009)
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A regionally based precision medicine implementation initiative in North Africa:The PerMediNA consortium
Hamdi, Yosr, Boujemaa, Maroua, Ben Aissa-Haj, Jihenne, Khyatti, Meriem, Hannachi, Mariem, Souiai, Oussema, Kammoun, Mohamed Selim, Mejri, Nesrine, Barakat, Abdelhamid, Pietrosemoli, Natalia, El-hamouchi, Adil, Kahla, Alia Ben, Abdelmalik, AMIMER, Zine, AMIR, Louiza, Amira, GIHBID, Amina, Djihad, BELABDI, Rafika, BELNOUI, Ayed, Belarbi, Nadia, Benchakroune, Meriem, BENINAL, Radja, BENKALI, Thouraya, BENDIMRED, Saida, BOUAOUNI, Meriem, BOUANIKA, Abderezzak, Bouamra, Sabrina, Bouhara, Nadir, Boussouf, Saber, Boutayeb, Omar, Chabati, Cherine, Charfeddine, Dalia, Chilla, Mehemmai, Chiraz, Souad, Dahnane, Soraya, DIAB, Adlane, Dib Hocine, Wider, Dorra, Amina, ELKEBOUB, Hicham, EL ATTAR, Djazia, ELHADEF, Hakkou, Farid, Widad, GAIS, Merzak, GHARNAOUT, Nidhal, Guessoum Amir, Farida, HADJAM, Rachdi, Haifa, Yaiche, Hamza, Leila, HANNACHI, Hassine, Hichem Ben, Filali, Houda, Kanaane, Houda, Benamri, Ichrak, Alami, Imane El, Bendahhou, Karima, Errafii, Khaoula, Bairi, Khalid El, Wafaa, Khaali, Mehdi, KARKOURI, Maria, Kabbage, Wafa, Kammoun, Houda, Kanaane, Biskri, Latefa, Amira, Louiza, Marie, Louise, Nabila, MALOUM, Saadi, Mariem, Campone, Mario, Mrad, Mehdi, Saadi, Meriem, Ardhaoui, Monia, TALEB, Mourad, Jmiaa, Nadia Ben, Benchakroun, Nadia, SALHI, Nawel, Wahiba, OUAHIOUNE, Salima, OULDSLIMANE, BELNOUI, Rafika, Louiza, Rahman Amira, Benkhalifa, Rym, Boutaib, Saber, Boutayeb, Saber, Menif, Samia, OULDSLIMANE, Salima, Nasr, Sonia Ben, Younes, Sonia Ait, BENCHEHIDA, Souad, Hassiba, Tali Maamar, Soraya, Talha, Mourad, TALEB, Fella, TERKMANI, Wassila, TOUISI, Kammoun, Wafa, Amel, ZEMMOUR, Sarah, ZEROUAL, AMIR, Zine Charif, Zouafi, Zineb, Dellagi, Koussay, Abdelhak, Sonia, Chica, Claudia, Rouleau, Etienne
Published in Translational oncology (01.06.2024)
Published in Translational oncology (01.06.2024)
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The first Mal de Meleda case in Libya: identification of a SLURP1 mutation
Bchetnia, Mbarka, Bozgia, Mariam, Laroussi, Nadia, Ben Brick, Ahlem Sabrine, Charfeddine, Cherine, Ben Halim, Nizar, Mokni, Mourad, Boubaker, Mohamed Samir, Abdelhak, Sonia
Published in International journal of dermatology (01.12.2015)
Published in International journal of dermatology (01.12.2015)
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Novel and recurrent mutations in the TAT gene in Tunisian families affected with Richner–Hanhart Syndrome
Bouyacoub, Yosra, Zribi, Hela, Azzouz, Hatem, Nasrallah, Fehmi, Abdelaziz, Rim Ben, Kacem, Monia, Rekaya, Ben, Messaoud, Olfa, Romdhane, Lilia, Charfeddine, Cherine, Bouziri, Mustapha, Bouziri, Sonia, Tebib, Neji, Mokni, Mourad, Kaabachi, Naziha, Boubaker, Samir, Abdelhak, Sonia
Published in Gene (15.10.2013)
Published in Gene (15.10.2013)
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