Zobrazeno 1 - 10 of 346 pro vyhledávání: '"Rodríguez-Ballesteros M"'
1
Akademický článek
Preservation of Distortion Product Otoacoustic Emissions in OTOF -Related Hearing Impairment.
Autor: Santarelli R; Department of Neurosciences, University of Padua, Padua, Italy.; Audiology Service, Santi Giovanni e Paolo Hospital, Venezia, Italy., Scimemi P; Department of Neurosciences, University of Padua, Padua, Italy.; Audiology Service, Santi Giovanni e Paolo Hospital, Venezia, Italy., Cama E; Department of Neurosciences, University of Padua, Padua, Italy.; Audiology Service, Santi Giovanni e Paolo Hospital, Venezia, Italy., Domínguez-Ruiz M; Servicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain., Bonora C; Department of Neurosciences, University of Padua, Padua, Italy., Gallo C; Department of Neurosciences, University of Padua, Padua, Italy., Rodríguez-Ballesteros M; Servicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, Madrid, Spain., Del Castillo I; Servicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.
Publikováno v: Ear and hearing [Ear Hear] 2024 Jan-Feb 01; Vol. 45 (1), pp. 250-256. Date of Electronic Publication: 2023 Sep 06.
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4
Akademický článek
Novel Pathogenic Variants in PJVK , the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder.
Autor: Domínguez-Ruiz M; Servicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, 28034 Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28034 Madrid, Spain., Rodríguez-Ballesteros M; Servicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, 28034 Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28034 Madrid, Spain., Gandía M; Servicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, 28034 Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28034 Madrid, Spain., Gómez-Rosas E; Servicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, 28034 Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28034 Madrid, Spain., Villamar M; Servicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, 28034 Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28034 Madrid, Spain., Scimemi P; Department of Neurosciences, University of Padua, 35121 Padua, Italy.; Audiology Service, Santi Giovanni e Paolo Hospital, 30122 Venice, Italy., Mancini P; Department of Sense Organs, University La Sapienza, 00162 Rome, Italy., Rendtorff ND; Department of Clinical Genetics, University Hospital, Copenhagen/The Kennedy Centre, DK-2600 Glostrup, Denmark., Moreno-Pelayo MA; Servicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, 28034 Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28034 Madrid, Spain., Tranebjaerg L; Department of Clinical Genetics, University Hospital, Copenhagen/The Kennedy Centre, DK-2600 Glostrup, Denmark.; Department of Clinical Medicine, University of Copenhagen, DK-2100 Copenhagen, Denmark., Medà C; Unidad de Prevención de Enfermedades del Oído, Conselleria de Salut, Illes Balears, 07120 Palma de Mallorca, Spain., Santarelli R; Department of Neurosciences, University of Padua, 35121 Padua, Italy.; Audiology Service, Santi Giovanni e Paolo Hospital, 30122 Venice, Italy., Del Castillo I; Servicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, 28034 Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28034 Madrid, Spain.
Publikováno v: Genes [Genes (Basel)] 2022 Jan 15; Vol. 13 (1). Date of Electronic Publication: 2022 Jan 15.
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5
Akademický článek
Cochlear Synaptopathy due to Mutations in OTOF Gene May Result in Stable Mild Hearing Loss and Severe Impairment of Speech Perception.
Autor: Santarelli R; Department of Neurosciences, University of Padua, Padua, Italy.; Audiology Service, Santi Giovanni e Paolo Hospital, Venezia, Italy., Scimemi P; Department of Neurosciences, University of Padua, Padua, Italy.; Audiology Service, Santi Giovanni e Paolo Hospital, Venezia, Italy., Costantini M; Department of Neurosciences, University of Padua, Padua, Italy., Domínguez-Ruiz M; Servicio de Genética, Hospital Universitario Ramón y Cajal, Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain., Rodríguez-Ballesteros M; Servicio de Genética, Hospital Universitario Ramón y Cajal, Madrid, Spain., Del Castillo I; Servicio de Genética, Hospital Universitario Ramón y Cajal, Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.
Publikováno v: Ear and hearing [Ear Hear] 2021 Nov-Dec 01; Vol. 42 (6), pp. 1627-1639.
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6
Akademický článek
Heterogeneous Group of Genetically Determined Auditory Neuropathy Spectrum Disorders.
Autor: Buianova, Anastasiia A.1 (AUTHOR) buianova_aa@rsmu.ru, Bazanova, Marina V.2 (AUTHOR) marishkab1993@mail.ru, Belova, Vera A.1 (AUTHOR) verusik.belova@gmail.com, Ilyina, Galit A.1 (AUTHOR) galit.ilyina@gmail.com, Samitova, Alina F.1 (AUTHOR) alinasamitova16@gmail.com, Shmitko, Anna O.1 (AUTHOR) annashmi97@gmail.com, Balakina, Anna V.2 (AUTHOR) abc2021@yandex.ru, Pavlova, Anna S.1 (AUTHOR) pavlova.a.s@gmail.com, Suchalko, Oleg N.1 (AUTHOR) olegsuchalko@gmail.com, Korostin, Dmitriy O.1 (AUTHOR) d.korostin@gmail.com, Machalov, Anton S.2,3 (AUTHOR) anton-machalov@mail.ru, Daikhes, Nikolai A.2,3 (AUTHOR) otolar@fmbamail.ru, Rebrikov, Denis V.1,4 (AUTHOR) rebrikov_dv@rsmu.ru
Publikováno v: International Journal of Molecular Sciences. Dec2024, Vol. 25 Issue 23, p12554. 14p.
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7
Akademický článek
Genotype–phenotype analysis of hearing function in patients with DFNB1A caused by the c.-23+1G>A splice site variant of the GJB2 gene (Cx26).
Autor: Teryutin, Fedor M.1 (AUTHOR), Pshennikova, Vera G.1 (AUTHOR), Solovyev, Aisen V.2 (AUTHOR), Romanov, Georgii P.2 (AUTHOR), Fedorova, Sardana A.1,2 (AUTHOR), Barashkov, Nikolay A.1 (AUTHOR) barashkov2004@mail.ru
Publikováno v: PLoS ONE. 10/22/2024, Vol. 19 Issue 10, p1-19. 19p.
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8
Akademický článek
High prevalence of m.1555A > G in patients with hearing loss in the Baikal Lake region of Russia as a result of founder effect.
Autor: Borisova, Tuyara V.1 (AUTHOR), Cherdonova, Aleksandra M.1 (AUTHOR), Pshennikova, Vera G.1,2 (AUTHOR), Teryutin, Fedor M.1,2 (AUTHOR), Morozov, Igor V.3,4 (AUTHOR), Bondar, Alexander A.3 (AUTHOR), Baturina, Olga A.3 (AUTHOR), Kabilov, Marsel R.3 (AUTHOR), Romanov, Georgii P.1 (AUTHOR), Solovyev, Aisen V.1 (AUTHOR), Fedorova, Sardana A.1,2 (AUTHOR), Barashkov, Nikolay A.1,2 (AUTHOR) barashkov2004@mail.ru
Publikováno v: Scientific Reports. 7/3/2024, Vol. 14 Issue 1, p1-10. 10p.
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9
Akademický článek
Interaction between BDNF Polymorphism and Physical Activity on Inhibitory Performance in the Elderly without Cognitive Impairment.
Autor: Canivet A; Université de Poitiers, Centre de Recherches sur la Cognition et l'Apprentissage, CNRS UMR 7295, Poitiers, France., Albinet CT; Université de Poitiers, Centre de Recherches sur la Cognition et l'Apprentissage, CNRS UMR 7295, Poitiers, France.; Laboratoire Sciences de la Cognition, Technologie, Ergonomie (SCoTE), Université de Toulouse, INU Champollion, Albi, France., Rodríguez-Ballesteros M; Laboratoire CiMoTheMA - EA 3808, CHU de Poitiers, Université de Poitiers, Groupe Génétique des Maladies Rares, Poitiers, France., Chicherio C; Neuropsychology Unit, Neurology Clinic, Department of Clinical Neurosciences, Geneva University Hospitals, Geneva, Switzerland.; Center for Interdisciplinary Study of Gerontology and Vulnerability, University of Geneva, Geneva, Switzerland., Fagot D; Center for Interdisciplinary Study of Gerontology and Vulnerability, University of Geneva, Geneva, Switzerland., André N; Université de Poitiers, Centre de Recherches sur la Cognition et l'Apprentissage, CNRS UMR 7295, Poitiers, France., Audiffren M; Université de Poitiers, Centre de Recherches sur la Cognition et l'Apprentissage, CNRS UMR 7295, Poitiers, France.; Maison des Sciences de l'Homme et de la Société, CNRS USR 3565, Université de Poitiers, Poitiers, France.
Publikováno v: Frontiers in human neuroscience [Front Hum Neurosci] 2017 Nov 07; Vol. 11, pp. 541. Date of Electronic Publication: 2017 Nov 07 (Print Publication: 2017).
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10
Akademický článek
The genetic basis and the diagnostic yield of genetic testing related to nonsyndromic hearing loss in Qatar.
Autor: Alkhidir, Shaza1,2 (AUTHOR), El-Akouri, Karen2,3 (AUTHOR), Al-Dewik, Nader2 (AUTHOR), Khodjet-El-khil, Houssein1 (AUTHOR), Okashah, Sarah2,4 (AUTHOR), Islam, Nazmul4,5 (AUTHOR), Ben-Omran, Tawfeg2,3 (AUTHOR) tbenomran@sidra.org, Al-Shafai, Mashael1,6 (AUTHOR) malshafai@qu.edu.qa
Publikováno v: Scientific Reports. 2/20/2024, Vol. 14 Issue 1, p1-16. 16p.
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