Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Amale, Bousfiha"'
Autor:
Sara Benchikh, Amale Bousfiha, Adil El Hamouchi, Somda Georgina Charlene Soro, Abderrahim Malki, Sanaa Nassereddine
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 23, Iss 1, Pp 1-13 (2022)
Abstract Background Chronic myelogenous leukemia (CML) is a type of blood cancer that affects hematopoietic stem cells and is often characterized by the presence of the Philadelphia chromosome. The Philadelphia chromosome encodes for a protein with h
Externí odkaz:
https://doaj.org/article/7de3f157706743d3a7547965d656b650
Autor:
Soulandi Djorwé, Amale Bousfiha, Néhémie Nzoyikorera, Victor Nkurunziza, Khadija Ait Mouss, Bellamine Kawthar, Abderrahim Malki
Publikováno v:
Access Microbiology. 5
This is an analytical cross-sectional study of coronavirus disease 2019 (COVID-19) based on data collected between 1 November 2020 and 31 March 2021 in Casablanca focusing on the disease’s epidemiological status and risk factors. A total of 4569 sa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::09ececf216bf88628f0adb37b57ea66c
https://doi.org/10.1099/acmi.0.000400
https://doi.org/10.1099/acmi.0.000400
Autor:
Imane AitRaise, Ghita Amalou, Amale Bousfiha, Hicham Charoute, Hassan Rouba, Houria Abdelghaffar, Crystel Bonnet, Christine Petit, Adbelhamid Barakat
Publikováno v:
Molecular Biology Reports
Molecular Biology Reports, 2022, 49 (5), pp.3949-3954. ⟨10.1007/s11033-022-07245-z⟩
Molecular Biology Reports, 2022, 49 (5), pp.3949-3954. ⟨10.1007/s11033-022-07245-z⟩
International audience; Background: Deafness is the most prevalent human sensorineural defect. It may occur as a result of an external auditory canal involvement, or a deficiency in the sound conduction mechanism, or an impairment of the cochlea, the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46a7013bd19b08c22094a168078bf3c5
https://doi.org/10.1007/s11033-022-07245-z
https://doi.org/10.1007/s11033-022-07245-z
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, 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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::03645daef43209a3b7a3b537a8baf3c3
https://doi.org/10.1159/000503450
https://doi.org/10.1159/000503450
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:
Amale, Bousfiha, Zied, Riahi, Lamiae, Elkhattabi, Amina, Bakhchane, Hicham, Charoute, Khalid, Snoussi, Crystel, Bonnet, Christine, Petit, Abdelhamid, Barakat
Publikováno v:
Human Heredity
Human Heredity, 2020, 84 (3), pp.109-116. ⟨10.1159/000503450⟩
Human Heredity, Karger, 2020, 84 (3), pp.109-116. ⟨10.1159/000503450⟩
Human Heredity, 2020, 84 (3), pp.109-116. ⟨10.1159/000503450⟩
Human Heredity, Karger, 2020, 84 (3), pp.109-116. ⟨10.1159/000503450⟩
International audience; 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, w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::e9640f2dacedd7ba42d79ba0a238b941
https://hal-pasteur.archives-ouvertes.fr/pasteur-03219615
https://hal-pasteur.archives-ouvertes.fr/pasteur-03219615
Autor:
Majida Charif, Khalid Snoussi, Sellama Nadifi, Hind Dehbi, Sara Salime, Rachida Roky, Mustapha Detsouli, Abdelhamid Barakat, Hassan Rouba, Mostafa Kabine, Amina Bakhchane, Amale Bousfiha, Hicham Charoute
Publikováno v:
European Journal of Medical Genetics. 59:325-329
Deafness is one of the most common genetic diseases in humans and is subject to important genetic heterogeneity. The most common cause of non syndromic hearing loss (NSHL) is mutations in the GJB2 gene. This study aims to update and evaluate the spec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6de8ccf7a3435f8d77d68e9892562402
https://doi.org/10.1016/j.ejmg.2016.05.002
https://doi.org/10.1016/j.ejmg.2016.05.002
Autor:
Zied Riahi, Crystel Bonnet, Christine Petit, Abdelhamid Barakat, Amale Bousfiha, Khalid Snoussi, Amina Bakhchane, Hicham Charoute, Hassan Rouba
Publikováno v:
Human Genome Variation
Human Genome Variation, Nature Publishing Group, 2017, 4 (1), pp.17009. ⟨10.1038/hgv.2017.9⟩
Human Genome Variation, 2017, 4 (1), pp.17009. ⟨10.1038/hgv.2017.9⟩
Human Genome Variation, Nature Publishing Group, 2017, 4 (1), pp.17009. ⟨10.1038/hgv.2017.9⟩
Human Genome Variation, 2017, 4 (1), pp.17009. ⟨10.1038/hgv.2017.9⟩
International audience; Mutations in the PEX1 gene are usually associated with recessive inherited diseases including Zellweger spectrum disorders. In this work, we identified a new pathogenic missense homozygous PEX1 mutation (p.Leu1026Pro, c.3077T>
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9bcae21bbb3e0c3a043ea3004eb39418
https://hal-pasteur.archives-ouvertes.fr/pasteur-03219646
https://hal-pasteur.archives-ouvertes.fr/pasteur-03219646
Autor:
Khalid Snoussi, Abdelhamid Barakat, Mostafa Kabine, Soukaina Elrharchi, Amina Bakhchane, Hicham Charoute, Guy Lenaers, Majida Charif, Sara Salime, Amale Bousfiha
Publikováno v:
International journal of pediatric otorhinolaryngology. 101
Objectives Autosomal recessive non-syndromic hearing loss is a heterogeneous disorder and the most prevalent human genetic sensorineural defect. In this study, we investigated the geneticcause of sensorineural hearing loss in Moroccan patients and pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08dc4b9b19394808541706695391fc1d
https://pubmed.ncbi.nlm.nih.gov/28964305
https://pubmed.ncbi.nlm.nih.gov/28964305