المؤلفون: Lang Zhang, Jin-Yuan Yang, Qiu-Quan Wang, Xue Gao, Guo-Jian Wang, Ming-Yu Han, Dong-Yang Kang, Dong-Yi Han, Sha-Sha Huang, Yong-Yi Yuan

المصدر: BMC Medical Genomics, Vol 17, Iss 1, Pp 1-10 (2024)

مصطلحات موضوعية: Autosomal recessive inheritance, DFNB111, MPZL2, Moderate sensorineural hearing loss, Progressive hearing loss, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1755-8794

URL الوصول: https://doaj.org/article/9056a91342b84ef7b12cc530b53a6390

المؤلفون: Zhang, Lang^{Aff1, Aff2, Aff3}, Yang, Jin-Yuan^{Aff1, Aff2, Aff3}, Wang, Qiu-Quan^{Aff1, Aff2, Aff3}, Gao, Xue, Wang, Guo-Jian^{Aff1, Aff2, Aff3}, Han, Ming-Yu^{Aff1, Aff2, Aff3}, Kang, Dong-Yang^{Aff1, Aff2, Aff3}, Han, Dong-Yi^{Aff1, Aff2, Aff3, IDs12920023017863_cor8}, Huang, Sha-Sha^{Aff1, Aff2, Aff3, IDs12920023017863_cor9}, Yuan, Yong-Yi^{Aff1, Aff2, Aff3, IDs12920023017863_cor10}

المصدر: BMC Medical Genomics. 17(1)

المؤلفون: Zhili Wang, Mengda Jiang, Hao Wu, Yun Li, Ying Chen

المصدر: Laryngoscope Investigative Otolaryngology, Vol 7, Iss 3, Pp 870-876 (2022)

مصطلحات موضوعية: genetic, MPZL2, novel variant, progressive hearing loss, Otorhinolaryngology, RF1-547, Surgery, RD1-811

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2378-8038

URL الوصول: https://doaj.org/article/b4be0febfb85433aa5787800a3d3b4df

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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: Adelaida M. Celaya, Helger G. Yntema, Suzanne E. de Bruijn, Kees Okkersen, Jaap Oostrik, H. Kremer, Elisabeth H. Hoefsloot, R.J. Stokroos, Erwin van Wijk, Nicol C. Voermans, Stefan H. Lelieveld, H.H.W. de Gier, Theo A. Peters, Henricus P. M. Kunst, M.F. van Dooren, Elena Gómez-Rosas, Carel B. Hoyng, S.G.M. Frints, Ronald J.C. Admiraal, I. Feenstra, Rolien Free, Andy J. Beynon, Hans J. P. M. Koenen, Ilse Feenstra, Isabel Varela-Nieto, A. J. van Essen, Peter Lichtner, L.J.C. Rotteveel, M.P. van der Schroeff, Margit Schraders, Jack Weeda, Ignacio del Castillo, S.G. Kant, J.R. Hof, R.J.E. Pennings, Els K. Vanhoutte, H.G. Yntema, R.J.C. Admiraal, Irma Joosten, Pau Serra, Silvia Murillo-Cuesta, Ronald J.E. Pennings, Mieke Wesdorp, Bas P. Hartel, Hannie Kremer, J.S. Klein-Wassink, Anne M.M. Oonk

المساهمون: Ministerio de Economía y Competitividad (España), European Commission, Instituto de Salud Carlos III

المصدر: American Journal of Human Genetics, 103, 1, pp. 74-88
Digital.CSIC. Repositorio Institucional del CSIC
instname
Am. J. Hum. Genet. 103, 74-88 (2018)
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
American Journal of Human Genetics, 103(1), 74-88
American Journal of Human Genetics, 103, 74-88

مصطلحات موضوعية: 0301 basic medicine, Male, Pathology, Deiters cells, cochlea, MathematicsofComputing_GENERAL, Degeneration (medical), Deafness, Epithelium, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Myelin, Mice, Hearing, Genetics (clinical), Neurons, Homozygote, TheoryofComputation_GENERAL, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Cochlea, medicine.anatomical_structure, Female, Spiral Ganglion, Inflammatory diseases Radboud Institute for Molecular Life Sciences [Radboudumc 5], Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], medicine.medical_specialty, hair cells, MPZL2, Hearing Loss, Sensorineural, Biology, Deiters Cells, Mpzl2, Hair Cells, Hearing Impairment, Human, Mouse, Article, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, Hair Cells, Auditory, Genetics, medicine, Cell Adhesion, otorhinolaryngologic diseases, Animals, Humans, Inner ear, human, Spiral ganglion, mouse, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Myelin protein zero, hearing impairment, Mice, Inbred C57BL, 030104 developmental biology, Organ of Corti, Mutation, sense organs, Cell Adhesion Molecules

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0aadc6a478e47e48d111ca93d814a2c9
https://hdl.handle.net/2066/194354

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