Search Results - "Riahi, Zied"

Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment by 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

“…Alpha-Mannosidosis (AM) is an ultra-rare storage disorder caused by a deficiency of lysosomal alpha-mannosidase encoded by the MAN2B1 gene. Clinical…”
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Corrigendum: Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health by 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

“…[This corrects the article DOI: 10.3389/fgene.2024.1384094.]…”
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Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health by 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

“…Hearing impairment (HI) is a prevalent neurosensory condition globally, impacting 5% of the population, with over 50% of congenital cases attributed to genetic…”
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Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients by Riahi, Zied, Bonnet, Crystel, Zainine, Rim, Lahbib, Saida, Bouyacoub, Yosra, Bechraoui, Rym, Marrakchi, Jihène, Hardelin, Jean-Pierre, Louha, Malek, Largueche, Leila, Ben Yahia, Salim, Kheirallah, Moncef, Elmatri, Leila, Besbes, Ghazi, Abdelhak, Sonia, Petit, Christine

“…Usher syndrome (USH) is an autosomal recessive disorder characterized by combined deafness-blindness. It accounts for about 50% of all hereditary deafness…”
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Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness by Riahi, Zied, Bonnet, Crystel, Zainine, Rim, Louha, Malek, Bouyacoub, Yosra, Laroussi, Nadia, Chargui, Mariem, Kefi, Rym, Jonard, Laurence, Dorboz, Imen, Hardelin, Jean-Pierre, Salah, Sihem Belhaj, Levilliers, Jacqueline, Weil, Dominique, McElreavey, Kenneth, Boespflug, Odile Tanguy, Besbes, Ghazi, Abdelhak, Sonia, Petit, Christine

“…Identification of the causative mutations in patients affected by autosomal recessive non syndromic deafness (DFNB forms), is demanding due to genetic…”
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A novel PEX1 mutation in a Moroccan family with Zellweger spectrum disorders by Bousfiha, Amale, Bakhchane, Amina, Charoute, Hicham, Riahi, Zied, Snoussi, Khalid, Rouba, Hassan, Bonnet, Crystel, Petit, Christine, Barakat, Abdelhamid

“…Mutations in the PEX1 gene are usually associated with recessive inherited diseases including Zellweger spectrum disorders. In this work, we identified a new…”
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A homozygous MPZL2 deletion is associated with non syndromic hearing loss in a moroccan family by Amalou, Ghita, Bonnet, Crystel, Riahi, Zied, Bouzidi, Aymane, Elrharchi, Soukaina, Bousfiha, Amale, Charif, Majida, Kandil, Mostafa, Lenaers, Guy, Petit, Christine, Barakat, Abdelhamid

“…Adhesion glycoproteins are implicated in the pathophysiology of hearing loss, the most frequent inherited sensory disorder, affecting 1 in 1000 new-borns…”
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Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness by Delmaghani, Sedigheh, Aghaie, Asadollah, Bouyacoub, Yosra, El Hachmi, Hala, Bonnet, Crystel, Riahi, Zied, Chardenoux, Sebastien, Perfettini, Isabelle, Hardelin, Jean-Pierre, Houmeida, Ahmed, Herbomel, Philippe, Petit, Christine

“…By genetic linkage analysis in a large consanguineous Iranian family with eleven individuals affected by severe to profound congenital deafness, we were able…”
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An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients by Bonnet, Crystel, Riahi, Zied, Chantot-Bastaraud, Sandra, Smagghe, Luce, Letexier, Mélanie, Marcaillou, Charles, Lefèvre, Gaëlle M, Hardelin, Jean-Pierre, El-Amraoui, Aziz, Singh-Estivalet, Amrit, Mohand-Saïd, Saddek, Kohl, Susanne, Kurtenbach, Anne, Sliesoraityte, Ieva, Zobor, Ditta, Gherbi, Souad, Testa, Francesco, Simonelli, Francesca, Banfi, Sandro, Fakin, Ana, Glavač, Damjan, Jarc-Vidmar, Martina, Zupan, Andrej, Battelino, Saba, Martorell Sampol, Loreto, Claveria, Maria Antonia, Catala Mora, Jaume, Dad, Shzeena, Møller, Lisbeth B, Rodriguez Jorge, Jesus, Hawlina, Marko, Auricchio, Alberto, Sahel, José-Alain, Marlin, Sandrine, Zrenner, Eberhart, Audo, Isabelle, Petit, Christine

“…Usher syndrome (USH), the most prevalent cause of hereditary deafness-blindness, is an autosomal recessive and genetically heterogeneous disorder. Three…”
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A novel mutation in SLITRK6 causes deafness and myopia in a Moroccan family by Salime, Sara, Riahi, Zied, Elrharchi, Soukaina, Elkhattabi, Lamiae, Charoute, Hicham, Nahili, Halima, Rouba, Hassan, Kabine, Mostafa, Bonnet, Crystel, Petit, Christine, Barakat, Abdelhamid

“…Deafness and myopia syndrome is characterized by moderate-profound, bilateral, congenital or prelingual deafness and high myopia. Autosomal recessive…”
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Two novel homozygous missense mutations identified in the BSND gene in Moroccan patients with Bartter's syndrome by Elrharchi, Soukaina, Riahi, Zied, Salime, Sara, Nahili, Halima, Rouba, Hassan, Kabine, Mostafa, Bonnet, Crystel, Petit, Christine, Barakat, Abdelhamid

“…Hearing loss (HL) is one of the most common sensorineural disorders. In the present study, we identified two novel missense mutations in BSND gene causing…”
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Further Evidence for the Implication of the MET Gene in Non-Syndromic Autosomal Recessive Deafness by Bousfiha, Amale, Riahi, Zied, Elkhattabi, Lamiae, Bakhchane, Amina, Charoute, Hicham, Snoussi, Khalid, Bonnet, Crystel, Petit, Christine, Barakat, Abdelhamid

“…Mutations in the mesenchymal epithelial transition factor (MET) gene are frequently associated with multiple human cancers but can also lead to human…”
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Genetic heterogeneity of congenital hearing impairment in Algerians from the Ghardaïa province by Talbi, Sonia, Bonnet, Crystel, Riahi, Zied, Boudjenah, Farid, Dahmani, Malika, Hardelin, Jean-Pierre, Wong Jun Tai, Fabienne, Louha, Malek, Ammar-Khodja, Fatima, Petit, Christine

“…Consanguinity rate is high in Algeria, and the population is thus at high risk for genetic diseases transmitted on an autosomal recessive mode. Inherited…”
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Etiology and associated GJB2 mutations in Mauritanian children with non-syndromic hearing loss by Moctar, Ely Cheikh Mohamed, Riahi, Zied, El Hachmi, Hala, Veten, Fatimetou, Meiloud, Ghlana, Bonnet, Christine, Abdelhak, Sonia, Errami, Mohammed, Houmeida, Ahmed

“…Origins of all hearing impairment forms may be divided into genetic mutations and acquired influence. Both carry damage to the inner ear structure resulting in…”
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Update of the spectrum of GJB2 gene mutations in Tunisian families with autosomal recessive nonsyndromic hearing loss by Riahi, Zied, Hammami, Hassen, Ouragini, Houyem, Messai, Habib, Zainine, Rim, Bouyacoub, Yosra, Romdhane, Lilia, Essaid, Donia, Kefi, Rym, Rhimi, Mohsen, Bedoui, Monia, Dhaouadi, Afef, Feldmann, Delphine, Jonard, Laurence, Besbes, Ghazi, Abdelhak, Sonia

“…Hearing loss is the most frequent sensory disorder. It affects 3 in 1000 newborns. It is genetically heterogeneous with 60 causally-related genes identified to…”
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A Tunisian family with a novel mutation in the gene CYP 4F22 for lamellar ichthyosis and co‐occurrence of hearing loss in a child due to mutation in the SLC 26A4 gene by Sayeb, Marwa, Riahi, Zied, Laroussi, Nadia, Bonnet, Crystel, Romdhane, Lilia, Mkaouar, Rahma, Zaouak, Anissa, Marrakchi, Jihene, Abdessalem, Ghaith, Messaoud, Olfa, Bouchniba, Oussema, Ghilane, Nacer, Mokni, Mourad, Besbes, Ghazi, Yacoub‐Youssef, Houda, Petit, Christine, Abdelhak, Sonia

“…Abstract Background Co‐occurrence of two genetic diseases is challenging for accurate diagnosis and genetic counseling. The recent availability of whole exome…”
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A Tunisian family with a novel mutation in the gene CYP4F22 for lamellar ichthyosis and co‐occurrence of hearing loss in a child due to mutation in the SLC26A4 gene by Sayeb, Marwa, Riahi, Zied, Laroussi, Nadia, Bonnet, Crystel, Romdhane, Lilia, Mkaouar, Rahma, Zaouak, Anissa, Marrakchi, Jihene, Abdessalem, Ghaith, Messaoud, Olfa, Bouchniba, Oussema, Ghilane, Nacer, Mokni, Mourad, Besbes, Ghazi, Yacoub‐Youssef, Houda, Petit, Christine, Abdelhak, Sonia

“…Background Co‐occurrence of two genetic diseases is challenging for accurate diagnosis and genetic counseling. The recent availability of whole exome…”
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Compound heterozygosity for dominant and recessive GJB2 mutations in a Tunisian family and association with successful cochlear implant outcome by Riahi, Zied, Zainine, Rim, Mellouli, Yosra, Hannachi, Raja, Bouyacoub, Yosra, Laroussi, Nadia, Beltaief, Najeh, Kefi, Rym, Romdhane, Lilia, Bonnet, Crystel, Abdelhak, Sonia, Besbes, Ghazi

“…Abstract Objectives Mutations of GJB2 encoding connexin 26 are the most common cause of hearing loss. They are responsible for up to 50% of ARNSHL. The…”
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Specific aspects of consanguinity: some examples from the Tunisian population by Romdhane, Lilia, Ben Halim, Nizar, Rejeb, Insaf, Kefi, Rym, Bouyacoub, Yosra, Ben Rekaya, Mariem, Messai, Habib, Messaoud, Olfa, Riahi, Zied, Bonnet, Crystel, Ben Rhouma, Faten, Nagara, Majdi, Petit, Christine, McElreavey, Ken, Romeo, Giovanni, Abdelhak, Sonia

“…Located at the cross-road between Europe and Africa, Tunisia is a North African country of 11 million inhabitants. Throughout its history, it has been invaded…”
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A novel frameshift mutation (c.405delC) in the GJB2 gene associated with autosomal recessive hearing loss in two Tunisian families by Riahi, Zied, Chahed, Houda, Jaafoura, Habib, Zainine, Rim, Messaoud, Olfa, Naili, Mohamed, Nagara, Majdi, Hammami, Hassan, Laroussi, Nadia, Bouyacoub, Yosra, Kefi, Rym, Bonnet, Crystel, Besbes, Ghazi, Abdelhak, Sonia

“…Abstract Objectives Mutations in GJB2 are found to be responsible for 50% of congenital autosomal recessive non-syndromic hearing loss, one of the most…”
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