المؤلفون: Sara Benchikh, Amale Bousfiha, Adil El Hamouchi, Somda Georgina Charlene Soro, Abderrahim Malki, Sanaa Nassereddine

المصدر: Egyptian Journal of Medical Human Genetics, Vol 23, Iss 1, Pp 1-13 (2022)

مصطلحات موضوعية: CML, Tyrosine kinase, Cytogenetic, Molecular biology, Treatment resistance, Treatment response, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2090-2441

URL الوصول: https://doaj.org/article/7de3f157706743d3a7547965d656b650

المؤلفون: Amina Bakhchane, Majida Charif, Amale Bousfiha, Redouane Boulouiz, Halima Nahili, Hassan Rouba, Hicham Charoute, Guy Lenaers, Abdelhamid Barakat

المصدر: PLoS ONE, Vol 12, Iss 5, p e0176516 (2017)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC5417485?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/82f455cff15345659651dafe589d5c76

المؤلفون: Imane AitRaise, Ghita Amalou, Amale Bousfiha, Hicham Charoute, Hassan Rouba, Houria Abdelghaffar, Crystel Bonnet, Christine Petit, Adbelhamid Barakat

المساهمون: Institut Pasteur du Maroc, Réseau International des Instituts Pasteur (RIIP), University Hassan II [Casablanca], Génétique et Physiologie de l'Audition, Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Institut de l'Audition [Paris] (IDA), Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Petit, Christine

المصدر: Molecular Biology Reports
Molecular Biology Reports, 2022, 49 (5), pp.3949-3954. ⟨10.1007/s11033-022-07245-z⟩

مصطلحات موضوعية: Collagen Type IV, Vacuolar Proton-Translocating ATPases, MESH: Mutation, MESH: Pedigree, Hearing Loss, Sensorineural, [SDV]Life Sciences [q-bio], MESH: Vacuolar Proton-Translocating ATPases, MESH: Deafness, Deafness, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Moroccan patients, Autoantigens, Connexins, Genetic Heterogeneity, Hearing, MESH: Connexin 26, Genetics, Humans, [SDV.MHEP.OS]Life Sciences [q-bio]/Human health and pathology/Sensory Organs, MESH: Hearing, MESH: Hearing Loss, MESH: Collagen Type IV, Molecular Biology, MESH: Humans, Whole exome sequencing, MESH: Genetic Heterogeneity, Hearing loss, General Medicine, Receptor, Endothelin B, MESH: Receptor, Endothelin B, Pedigree, MESH: Connexins, Connexin 26, [SDV] Life Sciences [q-bio], Morocco, MESH: Autoantigens, MESH: Hearing Loss, Sensorineural, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.MHEP.OS] Life Sciences [q-bio]/Human health and pathology/Sensory Organs, MESH: Morocco, Mutation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46a7013bd19b08c22094a168078bf3c5
https://doi.org/10.1007/s11033-022-07245-z

المؤلفون: Soulandi Djorwé, Amale Bousfiha, Néhémie Nzoyikorera, Victor Nkurunziza, Khadija Ait Mouss, Bellamine Kawthar, Abderrahim Malki

المصدر: Access Microbiology. 5

مصطلحات موضوعية: General Materials Science

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::09ececf216bf88628f0adb37b57ea66c
https://doi.org/10.1099/acmi.0.000400

المؤلفون: Soulandi Djorwé, Amale Bousfiha, Néhémie NZOYIKORERA, Victor Nkurunziza, Khadija Ait Mouss, Bellamine Kawthar, Abderrahim Malki

مصطلحات موضوعية: Infectious agents, Virology, Microbiology not elsewhere classified, Medical virology, Epidemiological methods, Social epidemiology, Epidemiology, COVID-19, Risk factors, Clinical characteristics

Relation: https://figshare.com/articles/dataset/Epidemiology_clinical_characteristics_and_risk_factors_of_coronavirus_disease_COVID-19_in_Casablanca_xlsx/19358135

الاتاحة: https://doi.org/10.6084/m9.figshare.19358135.v1
https://figshare.com/articles/dataset/Epidemiology_clinical_characteristics_and_risk_factors_of_coronavirus_disease_COVID-19_in_Casablanca_xlsx/19358135

المؤلفون: Zied Riahi, Majida Charif, Christine Petit, Amale Bousfiha, Ghita Amalou, Aymane Bouzidi, Crystel Bonnet, Guy Lenaers, Soukaina Elrharchi, Abdelhamid Barakat, Mostafa Kandil

المساهمون: Institut Pasteur du Maroc, Réseau International des Instituts Pasteur (RIIP), MitoVasc - Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université Chouaib Doukkali (UCD), Génétique et Physiologie de l'Audition, Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), ED 515 - Complexité du vivant, Sorbonne Université (SU), Faculté des Sciences Ben M'sik [Casablanca], Université Hassan II [Casablanca] (UH2MC), Université Mohamed 1 Oujda MAROC, Institut de l'Audition [Paris] (IDA), Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM), Collège de France (CdF (institution)), This work was supported by Pasteur Institute of Morocco (IPM). This project was financially supported by CAMPUS FRANCE (PHC TOUBKAL 2019 (French-Morocco bilateral program) Grant Number: 39005ZL)., The authors are indebted to the family that contributed to this study and to the CAMPUS FRANCE French-Morocco PHC TOUBKAL 2019 bilateral program (Grant Number: 39005ZL)., Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM)

المصدر: 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⟩

مصطلحات موضوعية: Hearing loss, MPZL2, [SDV]Life Sciences [q-bio], Deafness, 03 medical and health sciences, Consanguinity, 0302 clinical medicine, Tandem repeat, 030225 pediatrics, medicine, otorhinolaryngologic diseases, Humans, Allele, 030223 otorhinolaryngology, Hearing Loss, Genotyping, Gene, Exome sequencing, Genetics, business.industry, Haplotype, Homozygote, Non syndromic hearing loss, General Medicine, 3. Good health, Pedigree, Morocco, Otorhinolaryngology, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Mutation, medicine.symptom, business, Cell Adhesion Molecules

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2714a64f1edb3db0e7d4dcc08c8bb538
https://hal-pasteur.archives-ouvertes.fr/pasteur-03215242

المؤلفون: Amina Bakhchane, Khalid Snoussi, Crystel Bonnet, Christine Petit, Amale Bousfiha, Hicham Charoute, Zied Riahi, Abdelhamid Barakat, Lamiae Elkhattabi

المصدر: Human Heredity. 84:109-116

مصطلحات موضوعية: Genetics, 0303 health sciences, Daughter, Hearing loss, Sema domain, media_common.quotation_subject, 030305 genetics & heredity, Mutant, Biology, 3. Good health, 03 medical and health sciences, Mutation (genetic algorithm), otorhinolaryngologic diseases, medicine, Mesenchymal–epithelial transition, Missense mutation, medicine.symptom, Gene, Genetics (clinical), 030304 developmental biology, media_common

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::03645daef43209a3b7a3b537a8baf3c3
https://doi.org/10.1159/000503450

المؤلفون: Amale, Bousfiha, Zied, Riahi, Lamiae, Elkhattabi, Amina, Bakhchane, Hicham, Charoute, Khalid, Snoussi, Crystel, Bonnet, Christine, Petit, Abdelhamid, Barakat

المساهمون: Institut Pasteur du Maroc, Réseau International des Instituts Pasteur (RIIP), Université Hassan II [Casablanca] (UH2MC), Institut de la Vision, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Génétique et Physiologie de l'Audition, Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Collège de France - Chaire Génétique et physiologie cellulaire, Collège de France (CdF (institution)), Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Chaire Génétique et physiologie cellulaire

المصدر: 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⟩

مصطلحات موضوعية: MET gene, MESH: Pedigree, Hearing Loss, Sensorineural, [SDV]Life Sciences [q-bio], Mutation, Missense, MESH: Proto-Oncogene Proteins c-met, Molecular Dynamics Simulation, Consanguinity, MESH: Child, otorhinolaryngologic diseases, Humans, MESH: Molecular Dynamics Simulation, HGFR gene, Child, MESH: Consanguinity, MESH: Mutation, Missense, MESH: Humans, Whole Genome Sequencing, Hearing loss, Proto-Oncogene Proteins c-met, Pedigree, Moroccan family, MESH: Hearing Loss, Sensorineural, Mutation, Female, MESH: Female, MESH: Whole Genome Sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::e9640f2dacedd7ba42d79ba0a238b941
https://hal-pasteur.archives-ouvertes.fr/pasteur-03219615

المؤلفون: 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

المصدر: European Journal of Medical Genetics. 59:325-329

مصطلحات موضوعية: Male, 0301 basic medicine, Hearing loss, Nonsense mutation, Genes, Recessive, Deafness, 030105 genetics & heredity, Biology, medicine.disease_cause, Connexins, Genetic Heterogeneity, 03 medical and health sciences, Gjb2 gene, otorhinolaryngologic diseases, Genetics, medicine, Humans, Coding region, Allele, Alleles, Genetics (clinical), Mutation, Genetic heterogeneity, General Medicine, Connexin 26, Morocco, 030104 developmental biology, Female, Allelic heterogeneity, medicine.symptom

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6de8ccf7a3435f8d77d68e9892562402
https://doi.org/10.1016/j.ejmg.2016.05.002

المؤلفون: Zied Riahi, Crystel Bonnet, Christine Petit, Abdelhamid Barakat, Amale Bousfiha, Khalid Snoussi, Amina Bakhchane, Hicham Charoute, Hassan Rouba

المساهمون: Institut Pasteur du Maroc, Réseau International des Instituts Pasteur (RIIP), Institut de la Vision, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Génétique et Physiologie de l'Audition, Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Chaire Génétique et physiologie cellulaire, Collège de France (CdF (institution)), We thank all the patients and their families for their collaboration. This study was approved by the Ethics Committee of the Morocco Pasteur Institute, Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Collège de France - Chaire Génétique et physiologie cellulaire, Bonnet, Crystel

المصدر: 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⟩

مصطلحات موضوعية: 0301 basic medicine, Genetics, Mutation, [SDV]Life Sciences [q-bio], Protein domain, 030105 genetics & heredity, Biology, medicine.disease_cause, Biochemistry, [SDV] Life Sciences [q-bio], 03 medical and health sciences, chemistry.chemical_compound, 030104 developmental biology, chemistry, ATP hydrolysis, Hydrolase, otorhinolaryngologic diseases, Nucleoside triphosphate, medicine, Missense mutation, PEX1, Molecular Biology, Gene

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9bcae21bbb3e0c3a043ea3004eb39418
https://hal-pasteur.archives-ouvertes.fr/pasteur-03219646

المؤلفون: Khalid Snoussi, Abdelhamid Barakat, Mostafa Kabine, Soukaina Elrharchi, Amina Bakhchane, Hicham Charoute, Guy Lenaers, Majida Charif, Sara Salime, Amale Bousfiha

المصدر: International journal of pediatric otorhinolaryngology. 101

مصطلحات موضوعية: 0301 basic medicine, Male, MYO15A, Candidate gene, Hearing loss, Hearing Loss, Sensorineural, Nerve Tissue Proteins, Myosins, medicine.disease_cause, 03 medical and health sciences, symbols.namesake, otorhinolaryngologic diseases, medicine, Humans, Genetic Predisposition to Disease, Gene, Exome sequencing, Genetics, Sanger sequencing, Mutation, business.industry, Homozygote, General Medicine, medicine.disease, Pedigree, Morocco, 030104 developmental biology, Persons With Hearing Impairments, Otorhinolaryngology, Pediatrics, Perinatology and Child Health, symbols, Sensorineural hearing loss, Female, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08dc4b9b19394808541706695391fc1d
https://pubmed.ncbi.nlm.nih.gov/28964305

المؤلفون: Amale, Bousfiha, Amina, Bakhchane, Hicham, Charoute, Zied, Riahi, Khalid, Snoussi, Hassan, Rouba, Crystel, Bonnet, Christine, Petit, Abdelhamid, Barakat

المصدر: Human Genome Variation

مصطلحات موضوعية: otorhinolaryngologic diseases, Data Report

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::7e9205871f4c373387686e4d8e8726be
https://pubmed.ncbi.nlm.nih.gov/28446956

المؤلفون: Hassan Rouba, Guy Lenaers, Mustapha Detsouli, Amale Bousfiha, Abdelhamid Barakat, Majida Charif, Hicham Charoute, Amina Bakhchane

المصدر: Molecular biology reports. 44(5)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Heterozygote, Adolescent, Hearing loss, Usher syndrome, Biology, Compound heterozygosity, medicine.disease_cause, Receptors, G-Protein-Coupled, 03 medical and health sciences, 0302 clinical medicine, Retinitis pigmentosa, Exome Sequencing, otorhinolaryngologic diseases, Genetics, medicine, Humans, Child, Molecular Biology, Gene, Exome sequencing, Mutation, Siblings, General Medicine, medicine.disease, Pedigree, Morocco, 030104 developmental biology, Female, medicine.symptom, Usher Syndromes, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cef079f01582c6c5f1f19380132cc39d
https://pubmed.ncbi.nlm.nih.gov/28951997

المؤلفون: Hind Dehbi, Amale Bousfiha, Sellama Nadifi, Amina Bakhchane, Soukaina Elrharchi, Mostafa Kabine, Abdelhamid Barakat, Hicham Charoute

المصدر: Current research in translational medicine. 64(2)

مصطلحات موضوعية: 0301 basic medicine, Male, Heterozygote, Hearing loss, Hearing Loss, Sensorineural, Mutation, Missense, Genes, Recessive, Biology, medicine.disease_cause, Compound heterozygosity, General Biochemistry, Genetics and Molecular Biology, Connexins, 03 medical and health sciences, Keratoderma, Palmoplantar, otorhinolaryngologic diseases, medicine, Diseases in Twins, Humans, Point Mutation, Allele, Child, Alleles, Genes, Dominant, Sequence Deletion, Genetics, Mutation, Base Sequence, Point mutation, Heterozygote advantage, General Medicine, medicine.disease, Phenotype, Pedigree, Connexin 26, Morocco, 030104 developmental biology, Palmoplantar keratoderma, Amino Acid Substitution, Female, medicine.symptom

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6cd4376439978384ceec2303dd09c50d
https://pubmed.ncbi.nlm.nih.gov/27316387

المؤلفون: Hamid Naamane, L. Jeddane, Fatima Ailal, Amale Bousfiha, J. Najib, Omar Abidi, Abdelhamid Barakat

المصدر: BMC Proceedings
BMC Proceedings, Vol 5, Iss Suppl 1, p P88 (2011)

مصطلحات موضوعية: RFXANK, MHC class II, education.field_of_study, biology, business.industry, lcsh:R, Population, lcsh:Medicine, General Medicine, General Biochemistry, Genetics and Molecular Biology, Immune system, Antigen, Immunology, Poster Presentation, biology.protein, CIITA, HLA-DR, Medicine, lcsh:Q, lcsh:Science, business, education, RFX5

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9bae29d1c1f808ca81c43323aa238640
http://europepmc.org/articles/PMC3019518