Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Rahma, Mkaouar"'
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:
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, Lamia Cherif Ben Abdallah, Chokri Naouali, Saida Lahbib, Zinet Turki, Sahar Elouej, Yosra Bouyacoub, Maali Somai, Kenneth Mcelreavey, Anu Bashamboo, Sonia Abdelhak, Olfa Messaoud
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
The role of the prokineticin 2 pathway in human reproduction, olfactory bulb morphogenesis, and gonadotropin-releasing hormone secretion is well established. Recent studies have highlighted the implication of di/oligogenic inheritance in this disorde
Externí odkaz:
https://doaj.org/article/6da776bdce8e458aa2276521a5264d82
Autor:
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
Publikováno v:
PLoS ONE, Vol 16, Iss 10 (2021)
Erythrokeratodermia variabilis (EKV) is a rare disorder of cornification usually associated with dominant mutations in the GJB3 and GJB4 genes encoding connexins (Cx)31 and 30.3. Genetic heterogeneity of EKV has already been suggested. We investigate
Externí odkaz:
https://doaj.org/article/5567076a693f4cf28b9af24a2bae6cf6
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:
Sonia Abdelhak, Ridha Mrad, Nessrine Mezzi, Yosr Hamdi, Cherine Charfeddine, Lilia Romdhane, Safa Romdhane, Nadia Zitouna, Olfa Messaoud, Faouzi Maazoul, Ines Ouerteni, Anissa Zaouak, Ghaith Abdessalem, Rahma Mkaouar
Publikováno v:
Genes, Vol 12, Iss 1820, p 1820 (2021)
Genes
Volume 12
Issue 11
Genes
Volume 12
Issue 11
Genetic diseases in Tunisia are a real public health problem given their chronicity and the lack of knowledge concerning their prevalence and etiology, and the high rates of consanguinity. Hence, we performed systematic reviews of the literature in o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99000a97d4bf6978221227b5f1f0a931
https://www.mdpi.com/2073-4425/12/11/1820
https://www.mdpi.com/2073-4425/12/11/1820
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:
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8b85369b67248a8ba861797aa22b4fb5
https://doi.org/10.1111/ijd.14452
https://doi.org/10.1111/ijd.14452
Autor:
Anissa Zaouak, Hamza Dallali, Houda Hammami-Ghorbel, Amor Mosbah, Sonia Abdelhak, S. Fenniche, Cherine Charfeddine, Olfa Khayat, Nadia Laroussi, Achraf Chedly Debbiche, Aladin Redissi, Rahma Mkaouar, Raja Jouini
Publikováno v:
PLoS ONE, Vol 16, Iss 10 (2021)
PLoS ONE, Vol 16, Iss 10, p e0258777 (2021)
PLoS ONE
PLoS ONE, Vol 16, Iss 10, p e0258777 (2021)
PLoS ONE
Erythrokeratodermia variabilis (EKV) is a rare disorder of cornification usually associated with dominant mutations in the GJB3 and GJB4 genes encoding connexins (Cx)31 and 30.3. Genetic heterogeneity of EKV has already been suggested. We investigate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::873b5d0f9dfbdfc55c4459bcdcc01832
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8528321/?tool=EBI
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8528321/?tool=EBI