المؤلفون: Giovanni Motta, Salvatore Allosso, Ludovica Castagna, Ghita Trifuoggi, Tonia Di Meglio, Domenico Testa, Massimo Mesolella, Gaetano Motta

المصدر: Audiology Research, Vol 14, Iss 4, Pp 593-601 (2024)

مصطلحات موضوعية: enlarged vestibular aqueduct (EVA), otosclerosis, air–bone gap (ABG), conductive hearing loss (CHL), mixed hearing loss (MHL), third mobile window (TMW), Otorhinolaryngology, RF1-547

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2039-4349/14/4/50; https://doaj.org/toc/2039-4349

URL الوصول: https://doaj.org/article/c4cab1d72c254b71a518f049887de68d

المؤلفون: Natalia Bałdyga, Dominika Oziębło, Nina Gan, Mariusz Furmanek, Marcin L. Leja, Henryk Skarżyński, Monika Ołdak

المصدر: Genes, Vol 14, Iss 2, p 335 (2023)

مصطلحات موضوعية: hearing loss, inner ear malformation, enlarged vestibular aqueduct (EVA), incomplete partition type 2 (IP2), high-throughput sequencing, pathogenic variants, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4425/14/2/335; https://doaj.org/toc/2073-4425

URL الوصول: https://doaj.org/article/a12b8e455a074d7faafffb51c8148004

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المؤلفون: Crystel Bonnet, Sonia Talbi, Christine Petit, Fatima Ammar-Khodja, Merieme Djebbar, Farid Boudjenah, Malika Dahmani, Sofiane Ouhab

المساهمون: Université des Sciences et de la Technologie Houari Boumediene = University of Sciences and Technology Houari Boumediene [Alger] (USTHB), Établissement Public Hospitalier Bachir Mentouri, Service ORL [Tizi Ouzou], Centre Hospitalier Universitaire Mohamed Nedir, 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)), We are grateful to the family members for their participation in this study. The study was supported by National Veterinary School and the Algerian Ministry of Higher Education and Scientific research., Université des Sciences et de la Technologie Houari Boumediene [Alger] (USTHB), Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Chaire Génétique et physiologie cellulaire

المصدر: International Journal of Pediatric Otorhinolaryngology
International Journal of Pediatric Otorhinolaryngology, 2020, 129, pp.109772. ⟨10.1016/j.ijporl.2019.109772⟩
International Journal of Pediatric Otorhinolaryngology, Elsevier, 2020, 129, pp.109772. ⟨10.1016/j.ijporl.2019.109772⟩

مصطلحات موضوعية: Male, MESH: Acidosis, Renal Tubular, MESH: Introns, [SDV]Life Sciences [q-bio], Gene mutation, Gastroenterology, Renal tubular acidosis, Sensorineural hearing loss (SNHL), 0302 clinical medicine, Distal renal tubular acidosis, 030223 otorhinolaryngology, Frameshift Mutation, education.field_of_study, Enlarged vestibular aqueduct (EVA), MESH: Vestibular Aqueduct, Homozygote, MESH: Frameshift Mutation, General Medicine, Acidosis, Renal Tubular, Exons, MESH: Infant, 3. Good health, Child, Preschool, Sensorineural hearing loss, Female, MESH: Algeria, MESH: Homozygote, medicine.medical_specialty, Vacuolar Proton-Translocating ATPases, Distal renal tubular acidosis (dRTA), Hearing Loss, Sensorineural, Population, MESH: Vacuolar Proton-Translocating ATPases, Frameshift mutation, Vestibular Aqueduct, 03 medical and health sciences, 030225 pediatrics, Internal medicine, medicine, otorhinolaryngologic diseases, Humans, education, ATP6V1B1, MESH: Humans, business.industry, MESH: Child, Preschool, Infant, Metabolic acidosis, medicine.disease, Introns, MESH: Male, Otorhinolaryngology, MESH: Hearing Loss, Sensorineural, Algeria, Pediatrics, Perinatology and Child Health, business, MESH: Exons, MESH: Female, Enlarged vestibular aqueduct

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf21a41cd50ecbc1dd4742ae31040a43
https://hal-pasteur.archives-ouvertes.fr/pasteur-03219608

المؤلفون: Zhao Jiandong, Yuan Yongyi, Chen Jing, Huang Shasha, Wang Guojian, Han Dongyi, Dai Pu

المصدر: Journal of Translational Medicine, Vol 10, Iss 1, p 82 (2012)

مصطلحات موضوعية: Enlarged vestibular aqueduct (EVA), MLPA, SLC26A4, Copy number variations (CNVs), Mutation, Medicine

وصف الملف: electronic resource

Relation: http://www.translational-medicine.com/content/10/1/82; https://doaj.org/toc/1479-5876

URL الوصول: https://doaj.org/article/01386c1c1ac64818810e53167b95e334

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المؤلفون: A C, Gonçalves, R, Santos, A, O'Neill, P, Escada, G, Fialho, H, Caria

المصدر: Acta Otorhinolaryngologica Italica

مصطلحات موضوعية: Enlarged vestibular aqueduct (EVA), Hearing Loss, Sensorineural, Genetic Variation, Membrane Transport Proteins, Berkeley Drosophila Genome Project (BDGP), Computerised tomography (CT), Hearing loss (HL), Middle Aged, Pendred syndrome (PS), Sulfate Transporters, Cases Series and Reports, Mutation, otorhinolaryngologic diseases, Humans, Female, sense organs, Magnetic resonance imaging (MRI), Goiter, Nodular, Videonystagmography (VNG)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::116cbb5f840987982dcb3637ba1e0a45
https://pubmed.ncbi.nlm.nih.gov/27214836

المؤلفون: Jiandong Zhao, Jing Chen, Shasha Huang, Guojian Wang, Dongyi Han, Yongyi Yuan, Pu Dai

المصدر: Journal of Translational Medicine, Vol 10, Iss 1, p 82 (2012)
Journal of Translational Medicine

مصطلحات موضوعية: Adult, Male, China, Vestibular aqueduct, Adolescent, DNA Copy Number Variations, Mutant, lcsh:Medicine, General Biochemistry, Genetics and Molecular Biology, Vestibular Aqueduct, Young Adult, Exon, Asian People, SLC26A4, otorhinolaryngologic diseases, medicine, Humans, Genetic Predisposition to Disease, Multiplex ligation-dependent probe amplification, Copy-number variation, Allele, Child, Medicine(all), Genetics, Enlarged vestibular aqueduct (EVA), Copy number variations (CNVs), Biochemistry, Genetics and Molecular Biology(all), business.industry, Research, lcsh:R, Case-control study, Infant, Membrane Transport Proteins, General Medicine, medicine.disease, MLPA, medicine.anatomical_structure, Sulfate Transporters, Case-Control Studies, Child, Preschool, Mutation, Female, sense organs, business, Enlarged vestibular aqueduct

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f65d40aecea6fbcb674d37248d10432
https://doi.org/10.1186/1479-5876-10-82