Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Mediha, Trabelsi"'
Autor:
Dhekra Ismail, Lilia Kraoua, Sylvie Jaillard, Hela Bellil, Mohamed Zairi, Faouzi Maazoul, Ridha Mrad, Mohamed Nabil Nessib, Mediha Trabelsi
Publikováno v:
Molecular Cytogenetics, Vol 17, Iss 1, Pp 1-9 (2024)
Abstract Background Interstitial chromosome 11 long arm deletions (11q13-q23) represent a rare cytogenetic abnormality characterized by non-specific clinical features including intellectual disability and several malformations without a clear genotyp
Externí odkaz:
https://doaj.org/article/0ce03cf3ee914d5480ebaf5acbd4d46f
Autor:
Yosr Hamdi, Mediha Trabelsi, Kais Ghedira, Maroua Boujemaa, Ikhlas Ben Ayed, Cherine Charfeddine, Amal Souissi, Imen Rejeb, Wafa Kammoun Rebai, Chaima Hkimi, Fadoua Neifar, Nouha Jandoubi, Rahma Mkaouar, Melek Chaouch, Ayda Bennour, Selim Kamoun, Hend Chaker Masmoudi, Nabil Abid, Maha Mezghani Khemakhem, On behalf of the GTCA Consortium, Saber Masmoudi, Ali Saad, Lamia BenJemaa, Alia BenKahla, Samir Boubaker, Ridha Mrad, Hassen Kamoun, Sonia Abdelhak, Moez Gribaa, Neila Belguith, Najla Kharrat, Dorra Hmida, Ahmed Rebai
Publikováno v:
Genome Medicine, Vol 16, Iss 1, Pp 1-19 (2024)
Abstract Background Key discoveries and innovations in the field of human genetics have led to the foundation of molecular and personalized medicine. Here, we present the Genome Tunisia Project, a two-phased initiative (2022–2035) which aims to del
Externí odkaz:
https://doaj.org/article/d62ab665af394533b93e1685ae93dc5f
Autor:
Ichraf Kraoua, Maha Jamoussi, Cyrine Drissi, Lilia Kraoua, Séverine Drunat, Hanene Benrhouma, Thouraya Ben Younes, Sonia Nagi, Sonia Abdelhak, Odile Boespflug Tanguy, Ilhem Ben Youssef‐Turki, Mediha Trabelsi, Imen Dorboz
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 10, Pp n/a-n/a (2024)
ABSTRACT Background POLIII‐related leukodystrophies are a group of recently recognized hereditary white matter diseases with a similar clinical and radiological phenotype. No Tunisian studies have been published about POLIII‐related leukodystroph
Externí odkaz:
https://doaj.org/article/42e56d894f30444d9f78ebe123d5a36b
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:
Mariem Ben Rekaya, Feryel Ksontini, Linda Bel Haj Kacem, Farah Sassi, Emna Harigua‐Souiai, Ryma Boujneh, Ahmed H'mayada, Yosra Zaimi, Mouna Ayadi, Mediha Trabelsi, Ridha Mrad, Soumaya Rammeh
Publikováno v:
Clinical Case Reports, Vol 11, Iss 6, Pp n/a-n/a (2023)
Key clinical message We report the first case of pathologic complete response (pCR) to neoadjuvant imatinib in a gastric stromal tumor harboring KIT mutations in both exons 11 and 9. The significance of this co‐occurrence is unknown and might incre
Externí odkaz:
https://doaj.org/article/348465859f9f47bca3a3dbc9997dbcd1
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:
Hela Sassi, Rym Meddeb, Mediha Trabelsi, Samia Hannachi, Neila Belguith, Imen Abbes, Khaled Rahal, Karima Mrad, Amel Mezlini, Ridha M’rad
Publikováno v:
Clinical Oncology and Research. :1-7
Inherited predisposition to breast and ovarian cancer are most frequently due to germline mutations in the main genes BRCA1 (OMIM# 113705) and BRCA2 (OMIM# 600185). These inactivating mutations, essentially frameshift and nonsense variation, occurs m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f5de88108aaec0a6604afadcf064cca0
https://doi.org/10.31487/j.cor.2021.01.03
https://doi.org/10.31487/j.cor.2021.01.03
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:
Rym Kefi, Saida Lahbib, Rym Bourourou, Hamza Dallali, Sonia Abdelhak, Mediha Trabelsi, Rania Sakka, Naoufel Gaddour, R. M’rad
Publikováno v:
Molecular Biology Reports. 46:4185-4193
Studies of X-linked pedigrees were the first to identify genes implicated in intellectual disability (ID) and autism spectrum disorder (ASD). However, some pedigrees present a huge clinical variability between the affected members. This intrafamilial
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8585922656bb8f1454d42681f347ad21
https://doi.org/10.1007/s11033-019-04869-6
https://doi.org/10.1007/s11033-019-04869-6