Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Halima Nahili"'
Autor:
Amina Bakhchane, Majida Charif, Amale Bousfiha, Redouane Boulouiz, Halima Nahili, Hassan Rouba, Hicham Charoute, Guy Lenaers, Abdelhamid Barakat
Publikováno v:
PLoS ONE, Vol 12, Iss 5, p e0176516 (2017)
The MYO7A gene encodes a protein belonging to the unconventional myosin super family. Mutations within MYO7A can lead to either non syndromic hearing loss or to the Usher syndrome type 1B (USH1B). Here, we report the results of genetic analyses perfo
Externí odkaz:
https://doaj.org/article/82f455cff15345659651dafe589d5c76
Autor:
Amina Bakhchane, Majida Charif, Sara Salime, Redouane Boulouiz, Halima Nahili, Rachida Roky, Guy Lenaers, Abdelhamid Barakat
Publikováno v:
PLoS ONE, Vol 10, Iss 9, p e0138072 (2015)
Mutations in the TBC1D24 gene are responsible for four neurological presentations: infantile epileptic encephalopathy, infantile myoclonic epilepsy, DOORS (deafness, onychodystrophy, osteodystrophy, mental retardation and seizures) and NSHL (non-synd
Externí odkaz:
https://doaj.org/article/2063179404de4492be7d6758fcf2c00d
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:
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:
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, 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
Autor:
Al Mehdi Krami, Chorouk Ratib, Hicham Charoute, Hassan Rouba, Rachida Roky, Abdelhamid Barakat, Halima Nahili
Publikováno v:
Epilepsy research. 185
Epilepsy is a common serious brain condition characterized by the abnormal electrical activity of neurons. In most cases, epileptic patients respond to antiepileptic drugs. Approximately, one-third of patients prove medically intractable. The ABCB1 g
Autor:
Chaimaa, Ait El Cadi, Al Mehdi, Krami, Hicham, Charoute, Zouhair, Elkarhat, Najat, Sifeddine, Hamid, Lakhiari, Hassan, Rouba, Abdelhamid, Barakat, Halima, Nahili
Publikováno v:
BioMed Research International
RRM2B gene encodes ribonucleoside-diphosphate reductase subunit M2 B, the p53-inducible small subunit (p53R2) of ribonucleotide reductase (RNR), an enzyme catalyzing dNTP synthesis for mitochondrial DNA. Defects in this gene may cause severe mitochon
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
Autor:
Hassan Rouba, Zouhair Elkarhat, Najat Sifeddine, Chaimaa Ait El Cadi, Abdelhamid Barakat, Hicham Charoute, Hamid Lakhiari, Halima Nahili, Al Mehdi Krami
Publikováno v:
BioMed Research International, Vol 2020 (2020)
RRM2B gene encodes ribonucleoside-diphosphate reductase subunit M2 B, the p53-inducible small subunit (p53R2) of ribonucleotide reductase (RNR), an enzyme catalyzing dNTP synthesis for mitochondrial DNA. Defects in this gene may cause severe mitochon