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المصدر: Brazilian Journal of Otorhinolaryngology, Vol 86, Iss 3, Pp 327-331 (2020)
Brazilian Journal of Otorhinolaryngology v.86 n.3 2020
Brazilian Journal of Otorhinolaryngology
Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial (ABORL-CCF)
instacron:ABORL-CCF
Brazilian Journal of Otorhinolaryngology, Volume: 86, Issue: 3, Pages: 327-331, Published: 13 JUL 2020

وصف الملف: text/html

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3e84700c97917f1397e1225500cc6d7Test
https://doi.org/10.1016/j.bjorl.2018.12.005Test

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The Analysis of GJB2, GJB3, and GJB6 Gene Mutations in Patients with Hereditary Non-Syndromic Hearing Loss Living in Sivas

المؤلفون: Binnur Bagci, Küçük Kurtulgan H, Malik Ejder Yildirim, Öztürk Özdemir, Emine Elif Altuntaş, Ilhan Sezgin

المصدر: Journal of International Advanced Otology, Vol 15, Iss 3, Pp 373-378 (2019)

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Heterozygote, Pediatrics, medicine.medical_specialty, Adolescent, Genotype, Turkey, Hearing loss, Hearing Loss, Sensorineural, Consanguinity, Gene mutation, Compound heterozygosity, Connexins, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Gene Frequency, Connexin 30, medicine, Humans, Child, Allele frequency, Aged, biology, business.industry, Homozygote, General Medicine, Middle Aged, lcsh:Otorhinolaryngology, medicine.disease, lcsh:RF1-547, Connexin 26, 030104 developmental biology, Otorhinolaryngology, Child, Preschool, Mutation, Mutation (genetic algorithm), biology.protein, Female, Original Article, Sensorineural hearing loss, medicine.symptom, business, 030217 neurology & neurosurgery, GJB6

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8677aa9db44a4718ee4546a0737816a2Test
https://doi.org/10.5152/iao.2019.5401Test

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The spectrum of GJB2 gene mutations in Algerian families with nonsyndromic hearing loss from Sahara and Kabylie regions

المؤلفون: Crystel Bonnet, Sonia Talbi, Christine Petit, Mohammed Tahar Mansouri, Farid Boudjenah, Fatima Ammar Khodja

المساهمون: Université des Sciences et de la Technologie Houari Boumediene = University of Sciences and Technology Houari Boumediene [Alger] (USTHB), Institut de la Vision, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Hôpital Sidi Belloua, Hôpital de Frantz fanon, Centre hospitalo-universitaire de Bab El Oued, Institut Pasteur [Paris] (IP), Collège de France - Chaire Génétique et physiologie cellulaire, Collège de France (CdF (institution)), This work was supported by the Algerian Ministry of Higher Education and Scientific Research., We wish to thank the family members for their kind cooperation in this study. We are grateful to directors of deafness school, Arouini El Hachemie (Ghardaia school), Nezali Nadia and Aicha (Bejaia school), Akache Said (Tizi-Ouzou school), Mays Naima and Hadjemi Naima (Boumerdes school), Sabane Ali and Kacimi El Hassani Anissa (Bouira School), Dr Hadad (Baraki School), team of EHS Hospital of El Oued and Dr Lounis Abd Aziz (Service Ortorhyngologie (ORL), hôpital Frantz Fanon, Bejaia) for their help in sample collection., Université des Sciences et de la Technologie Houari Boumediene [Alger] (USTHB), Centre National de la Recherche Scientifique (CNRS)-Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Pasteur [Paris], Chaire Génétique et physiologie cellulaire

المصدر: International Journal of Pediatric Otorhinolaryngology
International Journal of Pediatric Otorhinolaryngology, 2019, 124, pp.157-160. ⟨10.1016/j.ijporl.2019.05.036⟩
International Journal of Pediatric Otorhinolaryngology, Elsevier, 2019, 124, pp.157-160. ⟨10.1016/j.ijporl.2019.05.036⟩

مصطلحات موضوعية: Male, [SDV]Life Sciences [q-bio], Deafness, Compound heterozygosity, medicine.disease_cause, Connexins, Cohort Studies, Gjb2 gene, Exon, MESH: Child, Prevalence, Child, MESH: Cohort Studies, Genetics, 0303 health sciences, Mutation, MESH: Middle Aged, biology, Homozygote, 030305 genetics & heredity, Exons, General Medicine, Middle Aged, MESH: Infant, 3. Good health, GJB2, Connexin 26, MESH: Young Adult, Child, Preschool, c.35delG, Female, Isolated Deafness, medicine.symptom, MESH: Algeria, GJB6, MESH: Homozygote, Adult, MESH: Mutation, Adolescent, Hearing loss, Black People, MESH: Deafness, MESH: Connexin 30, Young Adult, 03 medical and health sciences, Connexin 30, medicine, otorhinolaryngologic diseases, Humans, Prelingual deafness, MESH: Prevalence, 030304 developmental biology, MESH: Adolescent, MESH: Humans, business.industry, MESH: Child, Preschool, Infant, MESH: Adult, MESH: Male, MESH: Connexins, Otorhinolaryngology, Algeria, Pediatrics, Perinatology and Child Health, biology.protein, MESH: African Continental Ancestry Group, business, MESH: Exons, MESH: Female