Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Aymane Bouzidi"'
Autor:
Aymane Bouzidi, Hicham Charoute, Majida Charif, Ghita Amalou, Mostafa Kandil, Abdelhamid Barakat, Guy Lenaers
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-21 (2022)
Abstract Background Inherited retinal dystrophies (IRD) and optic neuropathies (ION) are the two major causes world-wide of early visual impairment, frequently leading to legal blindness. These two groups of pathologies are highly heterogeneous and r
Externí odkaz:
https://doaj.org/article/db52d4935dcd4f328ef4486bf0a50f6e
Autor:
Khaoula Rochdi, Mathieu Cerino, Nathalie Da Silva, Valerie Delague, Aymane Bouzidi, Halima Nahili, Ghizlane Zouiri, Yamna Kriouile, Svetlana Gorokhova, Marc Bartoli, Rachid Saïle, Abdelhamid Barakat, Martin Krahn
Publikováno v:
(IJRE) International Journal of Research and Ethics (ISSN 2665-7481). 5
The identification of underlying genes of genetic conditions has expanded greatly in the past decades, which has broadened the field of genes responsible for inherited neuromuscular diseases. We aimed to investigate mutations associated with neuromus
Autor:
Aymane Bouzidi, Hicham Charoute, Majida Charif, Ghita Amalou, Mostafa Kandil, Abdelhamid Barakat, Guy Lenaers
Publikováno v:
Orphanet journal of rare diseases. 17(1)
BackgroundInherited retinal dystrophies (IRD) and optic neuropathies (ION) are the two major causes world-wide of early visual impairment, frequently leading to legal blindness. These two groups of pathologies are highly heterogeneous and require com
Autor:
Rachid Saile, Svetlana Gorokhova, Aymane Bouzidi, Marc Bartoli, Martin Krahn, Valérie Delague, Abdelhamid Barakat, Ghizlane Zouiri, Mathieu Cerino, Khaoula Rochdi, Halima Nahili, Yamna Kriouile, Nathalie Da Silva
Publikováno v:
Clinica Chimica Acta
Clinica Chimica Acta, 2022, 524, pp.51-58. ⟨10.1016/j.cca.2021.11.020⟩
Clinica Chimica Acta, 2022, 524, pp.51-58. ⟨10.1016/j.cca.2021.11.020⟩
International audience; Background and aims: The identification of underlying genes of genetic conditions has expanded greatly in the past decades, which has broadened the field of genes responsible for inherited neuromuscular diseases. We aimed to i
Autor:
Falah Nouara, Ghita Amalou, Aymane Bouzidi, Majida Charif, Hicham Charoute, Guy Lenaers, Samira El Arabi, Bouchra Bousfiha, Abdelhamid Barakat
Publikováno v:
Archives of Oral Biology. 142:105518
To decipher and improve the molecular diagnosis of Hypoplastic Amelogenesis Imperfecta in Morocco.Using whole exome sequencing, we analyzed two Moroccan families with Hypoplastic Amelogenesis Imperfecta. The 2 patients from the first family had denta
Autor:
Al Mehdi Krami, Aymane Bouzidi, Majida Charif, Ghita Amalou, Hicham Charoute, Hassan Rouba, Rachida Roky, Guy Lenaers, Abdelhamid Barakat, Halima Nahili
Publikováno v:
European Journal of Medical Genetics. 65:104515
Intellectual disability is characterized by a significant impaired intellectual and adaptive functioning, affecting approximately 1-3% of the population, which can be caused by a variety of environmental and genetic factors. In this respect, de novo
Autor:
Zied Riahi, Majida Charif, Christine Petit, Amale Bousfiha, Ghita Amalou, Aymane Bouzidi, Crystel Bonnet, Guy Lenaers, Soukaina Elrharchi, Abdelhamid Barakat, Mostafa Kandil
Publikováno v:
International Journal of Pediatric Otorhinolaryngology
International Journal of Pediatric Otorhinolaryngology, 2021, 140, pp.110481. ⟨10.1016/j.ijporl.2020.110481⟩
International Journal of Pediatric Otorhinolaryngology, Elsevier, 2021, 140, pp.110481. ⟨10.1016/j.ijporl.2020.110481⟩
International Journal of Pediatric Otorhinolaryngology, 2021, 140, pp.110481. ⟨10.1016/j.ijporl.2020.110481⟩
International Journal of Pediatric Otorhinolaryngology, Elsevier, 2021, 140, pp.110481. ⟨10.1016/j.ijporl.2020.110481⟩
International audience; Adhesion glycoproteins are implicated in the pathophysiology of hearing loss, the most frequent inherited sensory disorder, affecting 1 in 1000 new-borns. Exome sequencing of a consanguineous Moroccan patient with mild hearing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2714a64f1edb3db0e7d4dcc08c8bb538
https://hal-pasteur.archives-ouvertes.fr/pasteur-03215242
https://hal-pasteur.archives-ouvertes.fr/pasteur-03215242
Autor:
Aymane, Bouzidi, Majida, Charif, Adil, Bouzidi, Ghita, Amalou, Mostafa, Kandil, Abdelhamid, Barakat, Guy, Lenaers
Publikováno v:
Molecular Vision
Purpose Progressive inherited retinal dystrophies, characterized by degeneration of rod photoreceptors and then cone photoreceptors, are known as retinitis pigmentosa (RP), for which 89 genes have been identified. Today, only five Moroccan families w
Autor:
Nisrine Aboussair, Céline Bris, Mostafa Kandil, Halima Nahili, David Goudenège, Patrizia Amati-Bonneau, Abdelhamid Barakat, Majida Charif, Aymane Bouzidi, Najat Sifeddine, Guy Lenaers, Kenza Dafir, Vincent Procaccio, Valérie Desquiret-Dumas, Ghita Amalou, Meriem Elqabli
Publikováno v:
Eye
Eye, Nature Publishing Group: Open Access Hybrid Model Option B, 2020, ⟨10.1038/s41433-019-0755-x⟩
Eye (Lond)
Eye, Nature Publishing Group: Open Access Hybrid Model Option B, 2020, ⟨10.1038/s41433-019-0755-x⟩
Eye (Lond)
International audience
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bc53b748f5b3ea0cb05e901295fcb5c
https://hal.archives-ouvertes.fr/hal-02942813
https://hal.archives-ouvertes.fr/hal-02942813