Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Zied, Riahi"'
Autor:
Rahma Mkaouar, Zied Riahi, Jihene Marrakchi, Nessrine Mezzi, Lilia Romdhane, Maroua Boujemaa, Hamza Dallali, Marwa Sayeb, Saida Lahbib, Hajer Jaouadi, Hela Boudabbous, Lotfi Zekri, Mariem Chargui, Olfa Messaoud, Meriem Elyounsi, Ichraf Kraoua, Anissa Zaouak, Ilhem Turki, Mourad Mokni, Sophie Boucher, Christine Petit, Fabrice Giraudet, Chiraz Mbarek, Ghazi Besbes, Soumeyya Halayem, Rim Zainine, Hamida Turki, Amel Tounsi, CRYSTEL Bonnet, Ridha Mrad, Sonia Abdelhak, Mediha Trabelsi, Cherine Charfeddine
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Externí odkaz:
https://doaj.org/article/d1f20ca9f1e041b5805610de30e16616
Autor:
Rahma Mkaouar, Zied Riahi, Jihene Marrakchi, Nessrine Mezzi, Lilia Romdhane, Maroua Boujemaa, Hamza Dallali, Marwa Sayeb, Saida Lahbib, Hager Jaouadi, Hela Boudabbous, Lotfi Zekri, Mariem Chargui, Olfa Messaoud, Meriem Elyounsi, Ichraf Kraoua, Anissa Zaouak, Ilhem Turki, Mourad Mokni, Sophie Boucher, Christine Petit, Fabrice Giraudet, Chiraz Mbarek, Ghazi Besbes, Soumeyya Halayem, Rim Zainine, Hamida Turki, Amel Tounsi, Crystel Bonnet, Ridha Mrad, Sonia Abdelhak, Mediha Trabelsi, Cherine Charfeddine
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Hearing impairment (HI) is a prevalent neurosensory condition globally, impacting 5% of the population, with over 50% of congenital cases attributed to genetic etiologies. In Tunisia, HI underdiagnosis prevails, primarily due to limited access to com
Externí odkaz:
https://doaj.org/article/d53f3da42b5b4e8f9503ec02796dd375
Autor:
Rahma Mkaouar, Zied Riahi, Cherine Charfeddine, Imen Chelly, Hela Boudabbous, Hamza Dallali, Crystel Bonnet, Meriem Hechmi, Soumeya Bekri, Nadia Zitouna, Lotfi Zekri, Amel Tounsi, Rym Kefi, Jihene Marrakchi, Olfa Messaoud, Ichraf Kraoua, Sonia Maalej, Ilhem Turki Ben Youssef, Ahlem Ben Hmid, Fabrice Giraudet, Sami Bouchoucha, Neji Tebib, Ghazi Besbes, Christine Petit, Ridha Mrad, Sonia Abdelhak, Mediha Trabelsi
Publikováno v:
PLoS ONE, Vol 16, Iss 10, p e0258202 (2021)
Alpha-Mannosidosis (AM) is an ultra-rare storage disorder caused by a deficiency of lysosomal alpha-mannosidase encoded by the MAN2B1 gene. Clinical presentation of AM includes mental retardation, recurrent infections, hearing loss, dysmorphic featur
Externí odkaz:
https://doaj.org/article/569f864a04af411d83938661f5680131
Autor:
Zied Riahi, Redouane Boulouiz, Crystel Bonnet, Hicham Charoute, Soukaina Elrharchi, Lamiae Elkhattabi, Sara Salime, Christine Petit, Abdelhamid Barakat, Mostafa Kabine
Publikováno v:
Human Heredity. 85:35-39
Introduction: Auditory neuropathy is a hearing disorder where outer hair cell function within the cochlea is normal, but inner hair cell and/or the auditory nerve function is disrupted. It is a heterogeneous disorder, which can have either congenital
Autor:
Soumeya Bekri, Olfa Messaoud, Cherine Charfeddine, Hela Boudabbous, Amel Tounsi, Meriem Hechmi, Lotfi Zekri, Rahma Mkaouar, Ghazi Besbes, Ahlem Ben Hmid, Christine Petit, R. M’rad, Neji Tebib, Sami Bouchoucha, Fabrice Giraudet, Rym Kefi, J. Marrakchi, Crystel Bonnet, Imen Chelly, Ichraf Kraoua, Hamza Dallali, Ilhem Turki Ben Youssef, Sonia Abdelhak, Nadia Zitouna, Zied Riahi, Sonia Maalej, Mediha Trabelsi
Publikováno v:
PLoS ONE
PLoS ONE, 2021, 16 (10), pp.e0258202. ⟨10.1371/journal.pone.0258202⟩
PLoS ONE, Vol 16, Iss 10, p e0258202 (2021)
PLoS ONE, 2021, 16 (10), pp.e0258202. ⟨10.1371/journal.pone.0258202⟩
PLoS ONE, Vol 16, Iss 10, p e0258202 (2021)
Alpha-Mannosidosis (AM) is an ultra-rare storage disorder caused by a deficiency of lysosomal alpha-mannosidase encoded by the MAN2B1 gene. Clinical presentation of AM includes mental retardation, recurrent infections, hearing loss, dysmorphic featur
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f10eed9fa8dee83d1c67ef18ba710098
https://hal-pasteur.archives-ouvertes.fr/pasteur-04072687
https://hal-pasteur.archives-ouvertes.fr/pasteur-04072687
Autor:
Zied Riahi, Crystel Bonnet, Rim Zainine, Saida Lahbib, Yosra Bouyacoub, Rym Bechraoui, Jihène Marrakchi, Jean-Pierre Hardelin, Malek Louha, Leila Largueche, Salim Ben Yahia, Moncef Kheirallah, Leila Elmatri, Ghazi Besbes, Sonia Abdelhak, Christine Petit
Publikováno v:
PLoS ONE, Vol 10, Iss 3, p e0120584 (2015)
Usher syndrome (USH) is an autosomal recessive disorder characterized by combined deafness-blindness. It accounts for about 50% of all hereditary deafness blindness cases. Three clinical subtypes (USH1, USH2, and USH3) are described, of which USH1 is
Externí odkaz:
https://doaj.org/article/a1cec40889d2405db2ba7c181f4782b6
Autor:
Sonia Abdelhak, Zied Riahi, Houda Yacoub-Youssef, Nacer Ghilane, Mourad Mokni, Crystel Bonnet, Anissa Zaouak, J. Marrakchi, Christine Petit, Nadia Laroussi, Lilia Romdhane, Oussema Bouchniba, Marwa Sayeb, Olfa Messaoud, Ghaith Abdessalem, Rahma Mkaouar, Ghazi Besbes
Publikováno v:
International Journal of Dermatology. 58:1439-1443
Background Co-occurrence of two genetic diseases is challenging for accurate diagnosis and genetic counseling. The recent availability of whole exome sequencing (WES) has dramatically improved the molecular diagnosis of rare genetic diseases in parti
Autor:
Amina Bakhchane, Khalid Snoussi, Crystel Bonnet, Christine Petit, Amale Bousfiha, Hicham Charoute, Zied Riahi, Abdelhamid Barakat, Lamiae Elkhattabi
Publikováno v:
Human Heredity. 84:109-116
Mutations in the mesenchymal epithelial transition factor (MET) gene are frequently associated with multiple human cancers but can also lead to human non-syndromic autosomal recessive deafness (DFNB97). In the present study, we identified a novel hom
Autor:
Zied Riahi, Crystel Bonnet, Rim Zainine, Malek Louha, Yosra Bouyacoub, Nadia Laroussi, Mariem Chargui, Rym Kefi, Laurence Jonard, Imen Dorboz, Jean-Pierre Hardelin, Sihem Belhaj Salah, Jacqueline Levilliers, Dominique Weil, Kenneth McElreavey, Odile Tanguy Boespflug, Ghazi Besbes, Sonia Abdelhak, Christine Petit
Publikováno v:
PLoS ONE, Vol 9, Iss 6, p e99797 (2014)
Identification of the causative mutations in patients affected by autosomal recessive non syndromic deafness (DFNB forms), is demanding due to genetic heterogeneity. After the exclusion of GJB2 mutations and other mutations previously reported in Tun
Externí odkaz:
https://doaj.org/article/73baa184888a42adb09641ced4df3f85
Autor:
Zied Riahi, Hassan Rouba, Mostafa Kabine, Soukaina Elrharchi, Abdelhamid Barakat, Sara Salime, Crystel Bonnet, Christine Petit, Halima Nahili
Publikováno v:
International Journal of Pediatric Otorhinolaryngology. 113:46-50
Objectives 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 Bartter syndrome type IV which is a genetic disease with an autosomal recessive tran