Artículos de revistas sobre el tema "DFNB16"
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Aldè, Mirko, Giovanna Cantarella, Diego Zanetti, Lorenzo Pignataro, Ignazio La Mantia, Luigi Maiolino, Salvatore Ferlito et al. "Autosomal Dominant Non-Syndromic Hearing Loss (DFNA): A Comprehensive Narrative Review". Biomedicines 11, n.º 6 (1 de junio de 2023): 1616. http://dx.doi.org/10.3390/biomedicines11061616.
Texto completoDomínguez-Ruiz, María, Laura Ruiz-Palmero, Paula I. Buonfiglio, Irene García-Vaquero, Elena Gómez-Rosas, Marina Goñi, Manuela Villamar et al. "Novel Pathogenic Variants in the Gene Encoding Stereocilin (STRC) Causing Non-Syndromic Moderate Hearing Loss in Spanish and Argentinean Subjects". Biomedicines 11, n.º 11 (31 de octubre de 2023): 2943. http://dx.doi.org/10.3390/biomedicines11112943.
Texto completoBack, Daniela, Wafaa Shehata-Dieler, Barbara Vona, Michaela A. H. Hofrichter, Joerg Schroeder, Thomas Haaf, Torsten Rahne, Rudolf Hagen y Sebastian P. Schraven. "Phenotypic Characterization of DFNB16-associated Hearing Loss". Otology & Neurotology 40, n.º 1 (enero de 2019): e48-e55. http://dx.doi.org/10.1097/mao.0000000000002059.
Texto completoFaridi, Rabia, Rizwan Yousaf, Sayaka Inagaki, Rafal Olszewski, Shoujun Gu, Robert J. Morell, Elizabeth Wilson et al. "Deafness DFNB128 Associated with a Recessive Variant of Human MAP3K1 Recapitulates Hearing Loss of Map3k1-Deficient Mice". Genes 15, n.º 7 (27 de junio de 2024): 845. http://dx.doi.org/10.3390/genes15070845.
Texto completoFrykholm, Carina, Joakim Klar, Tatjana Tomanovic, Adam Ameur y Niklas Dahl. "Stereocilin gene variants associated with episodic vertigo: expansion of the DFNB16 phenotype". European Journal of Human Genetics 26, n.º 12 (24 de septiembre de 2018): 1871–74. http://dx.doi.org/10.1038/s41431-018-0256-6.
Texto completoAvan, Paul, Sébastien Le Gal, Vincent Michel, Typhaine Dupont, Jean-Pierre Hardelin, Christine Petit y Elisabeth Verpy. "Otogelin, otogelin-like, and stereocilin form links connecting outer hair cell stereocilia to each other and the tectorial membrane". Proceedings of the National Academy of Sciences 116, n.º 51 (27 de noviembre de 2019): 25948–57. http://dx.doi.org/10.1073/pnas.1902781116.
Texto completoDrury, Stacy S. y Bronya J. B. Keats. "Mouse Tales from Kresge: The Deafness Mouse". Journal of the American Academy of Audiology 14, n.º 06 (junio de 2003): 296–301. http://dx.doi.org/10.1055/s-0040-1715745.
Texto completoAchard, S., F. Simon, F. Denoyelle y S. Marlin. "Vertiges positionnels paroxystiques bénins récidivants chez deux enfants DFNB16 d’une même fratrie : cas clinique CARE". Annales françaises d'Oto-rhino-laryngologie et de Pathologie Cervico-faciale 140, n.º 3 (junio de 2023): 129–32. http://dx.doi.org/10.1016/j.aforl.2022.10.008.
Texto completoCosetti, Maura, David Culang, Sumankrishna Kotla, Peter O'Brien, Daniel F. Eberl y Frances Hannan. "Unique Transgenic Animal Model for Hereditary Hearing Loss". Annals of Otology, Rhinology & Laryngology 117, n.º 11 (noviembre de 2008): 827–33. http://dx.doi.org/10.1177/000348940811701106.
Texto completoVona, B., M. A. H. Hofrichter, C. Neuner, J. Schröder, A. Gehrig, J. B. Hennermann, F. Kraus et al. "DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics". Clinical Genetics 87, n.º 1 (21 de enero de 2014): 49–55. http://dx.doi.org/10.1111/cge.12332.
Texto completoCampbell, D. A., D. P. McHale, K. A. Brown, L. M. Moynihan, M. Houseman, G. Karbani, G. Parry et al. "A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22." Journal of Medical Genetics 34, n.º 12 (1 de diciembre de 1997): 1015–17. http://dx.doi.org/10.1136/jmg.34.12.1015.
Texto completoČada, Zdeněk, Dana Šafka Brožková, Zuzana Balatková, Pavlína Plevová, Dagmar Rašková, Jana Laštůvková, Rudolf Černý et al. "Moderate sensorineural hearing loss is typical for DFNB16 caused by various types of mutations affecting the STRC gene". European Archives of Oto-Rhino-Laryngology 276, n.º 12 (24 de septiembre de 2019): 3353–58. http://dx.doi.org/10.1007/s00405-019-05649-5.
Texto completoAmmar-Khodja, Fatima, Valérie Faugère, David Baux, Claire Giannesini, Susana Léonard, Mohamed Makrelouf, Rahia Malek et al. "Molecular screening of deafness in Algeria: High genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1F". European Journal of Medical Genetics 52, n.º 4 (julio de 2009): 174–79. http://dx.doi.org/10.1016/j.ejmg.2009.03.018.
Texto completoGao, Xue, Yong-Yi Yuan, Guo-Jian Wang, Jin-Cao Xu, Yu Su, Xi Lin y Pu Dai. "Novel Mutations and Mutation Combinations ofTMPRSS3Cause Various Phenotypes in One Chinese Family with Autosomal Recessive Hearing Impairment". BioMed Research International 2017 (2017): 1–8. http://dx.doi.org/10.1155/2017/4707315.
Texto completoVerpy, Elisabeth, Saber Masmoudi, Ingrid Zwaenepoel, Michel Leibovici, Tim P. Hutchin, Ignacio Del Castillo, Sylvie Nouaille et al. "Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus". Nature Genetics 29, n.º 3 (10 de septiembre de 2001): 345–49. http://dx.doi.org/10.1038/ng726.
Texto completoVillamar, Manuela, Ignacio del Castillo, Noelia Valle, Lourdes Romero y Felipe Moreno. "Deafness Locus DFNB16 Is Located on Chromosome 15q13-q21 within a 5-cM Interval Flanked by Markers D15S994 and D15S132". American Journal of Human Genetics 64, n.º 4 (abril de 1999): 1238–41. http://dx.doi.org/10.1086/302321.
Texto completoDomínguez-Ruiz, María, Montserrat Rodríguez-Ballesteros, Marta Gandía, Elena Gómez-Rosas, Manuela Villamar, Pietro Scimemi, Patrizia Mancini et al. "Novel Pathogenic Variants in PJVK, the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder". Genes 13, n.º 1 (15 de enero de 2022): 149. http://dx.doi.org/10.3390/genes13010149.
Texto completoVan Camp, Guy, Henricus Kunst, Kris Flothmann, Wyman McGuirt, Jan Wauters, Henri Marres, Margriet Verstreken et al. "A gene for autosomal dominant hearing impairment (DFNA14) maps to a region on chromosome 4p16.3 that does not overlap the DFNA6 locus". Journal of Medical Genetics 36, n.º 7 (1 de julio de 1999): 532–36. http://dx.doi.org/10.1136/jmg.36.7.532.
Texto completoKochhar, Amit, Simon I. Angeli, Sandeep P. Dave y Xue Z. Liu. "Imaging correlation of children with DFNB1 vs non-DFNB1 hearing loss". Otolaryngology–Head and Neck Surgery 140, n.º 5 (mayo de 2009): 665–69. http://dx.doi.org/10.1016/j.otohns.2009.01.031.
Texto completoConnell, Sarah S., Simon I. Angeli, Hamlet Suarez, Annelle V. Hodges, Thomas J. Balkany y Xue Z. Liu. "Performance after cochlear implantation in DFNB1 patients". Otolaryngology–Head and Neck Surgery 137, n.º 4 (octubre de 2007): 596–602. http://dx.doi.org/10.1016/j.otohns.2007.02.017.
Texto completoIwasa, Yoichiro, Miles J. Klimara, Hidekane Yoshimura, William D. Walls, Ryotaro Omichi, Cody A. West, Seiji B. Shibata, Paul T. Ranum y Richard JH Smith. "Mutation-agnostic RNA interference with engineered replacement rescuesTmc1-related hearing loss". Life Science Alliance 6, n.º 3 (27 de diciembre de 2022): e202201592. http://dx.doi.org/10.26508/lsa.202201592.
Texto completoKochhar, Amit, Simon I. Angeli, Sandeep Dave y Xue-Zhong Liu. "Imaging Correlation of DFNB1 vs Non-DFNB1 Hearing Loss". Otolaryngology–Head and Neck Surgery 139, n.º 2_suppl (agosto de 2008): P56. http://dx.doi.org/10.1016/j.otohns.2008.05.182.
Texto completoModamio-Hoybjor, S. "A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA50, maps to chromosome 7q32 between the DFNB17 and DFNB13 deafness loci". Journal of Medical Genetics 41, n.º 2 (1 de febrero de 2004): 14e—14. http://dx.doi.org/10.1136/jmg.2003.012500.
Texto completoJahn, Kelly N., Molly D. Bergan y Julie G. Arenberg. "Auditory Detection Thresholds and Cochlear Resistivity Differ Between Pediatric Cochlear Implant Listeners With Enlarged Vestibular Aqueduct and Those With Connexin-26 Mutations". American Journal of Audiology 29, n.º 1 (5 de marzo de 2020): 23–34. http://dx.doi.org/10.1044/2019_aja-19-00054.
Texto completoGao, Xue, Sha-Sha Huang, Yong-Yi Yuan, Jin-Cao Xu, Ping Gu, Dan Bai, Dong-Yang Kang et al. "Identification ofTMPRSS3as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population". Neural Plasticity 2017 (2017): 1–8. http://dx.doi.org/10.1155/2017/3192090.
Texto completoDomínguez-Ruiz, María, Margarita Olarte, Esther Onecha, Irene García-Vaquero, Nancy Gelvez, Greizy López, Manuela Villamar et al. "Novel Cases of Non-Syndromic Hearing Impairment Caused by Pathogenic Variants in Genes Encoding Mitochondrial Aminoacyl-tRNA Synthetases". Genes 15, n.º 7 (19 de julio de 2024): 951. http://dx.doi.org/10.3390/genes15070951.
Texto completoLe Nabec, Anaïs, Clara Blotas, Alinéor Briset, Mégane Collobert, Claude Férec y Stéphanie Moisan. "3D Chromatin Organization Involving MEIS1 Factor in the cis-Regulatory Landscape of GJB2". International Journal of Molecular Sciences 23, n.º 13 (23 de junio de 2022): 6964. http://dx.doi.org/10.3390/ijms23136964.
Texto completoPosukh, Olga L., Marina V. Zytsar, Marita S. Bady-Khoo, Valeria Yu Danilchenko, Ekaterina A. Maslova, Nikolay A. Barashkov, Alexander A. Bondar, Igor V. Morozov, Vladimir N. Maximov y Michael I. Voevoda. "Unique Mutational Spectrum of the GJB2 Gene and Its Pathogenic Contribution to Deafness in Tuvinians (Southern Siberia, Russia): A High Prevalence of Rare Variant c.516G>C (p.Trp172Cys)". Genes 10, n.º 6 (5 de junio de 2019): 429. http://dx.doi.org/10.3390/genes10060429.
Texto completoOziębło, Dominika, Anita Obrycka, Artur Lorens, Henryk Skarżyński y Monika Ołdak. "Cochlear Implantation Outcome in Children with DFNB1 locus Pathogenic Variants". Journal of Clinical Medicine 9, n.º 1 (15 de enero de 2020): 228. http://dx.doi.org/10.3390/jcm9010228.
Texto completoNejatizadeh, Azim, MasoudAkbarzadeh Laleh, Marzieh Naseri, AliAkbar Poursadegh Zonouzi, AhmadPoursadegh Zonouzi, Marjan Masoudi, Najmeh Ahangari y Leila Shams. "Diverse pattern of gap junction beta-2 and gap junction beta-4 genes mutations and lack of contribution of DFNB21, DFNB24, DFNB29, and DFNB42 loci in autosomal recessive nonsyndromic hearing loss patients in Hormozgan, Iran". Journal of Research in Medical Sciences 22, n.º 1 (2017): 99. http://dx.doi.org/10.4103/jrms.jrms_976_16.
Texto completoSakaguchi, N., F. Watari, A. Yokoyama y Y. Nodasaka. "High-resolution electron microscopy of multi-wall carbon nanotubes in the subcutaneous tissue of rats". Journal of Electron Microscopy 57, n.º 5 (25 de julio de 2008): 159–64. http://dx.doi.org/10.1093/jmicro/dfn016.
Texto completoKeats, Bronya J. B. y Charles I. Berlin. "Genomics and Hearing Impairment". Genome Research 9, n.º 1 (1 de enero de 1999): 7–16. http://dx.doi.org/10.1101/gr.9.1.7.
Texto completoDahl, John P., Michael E. Stadler, Benjamin Y. Huang, Di Miao, Mihir R. Patel, Oliver F. Adunka, Craig A. Buchman, Jason P. Fine y Carlton J. Zdanski. "Connexin-Related (DFNB1) Hearing Loss". Otolaryngology–Head and Neck Surgery 152, n.º 5 (12 de enero de 2015): 889–96. http://dx.doi.org/10.1177/0194599814566399.
Texto completoVolo, T., C. Morando, E. Leonardi, S. Ghiselli, E. Emanuelli, A. Murgia, G. Babighian y E. Orzan. "A028 Unraveling DFNB1 phenotype variability". International Journal of Pediatric Otorhinolaryngology 75 (mayo de 2011): 6. http://dx.doi.org/10.1016/s0165-5876(11)70029-5.
Texto completoDodson, Kelley M., Susan H. Blanton, Katherine O. Welch, Virginia W. Norris, Regina L. Nuzzo, Jacob A. Wegelin, Ruth S. Marin, Walter E. Nance, Arti Pandya y Kathleen S. Arnos. "Vestibular dysfunction in DFNB1 deafness". American Journal of Medical Genetics Part A 155, n.º 5 (4 de abril de 2011): 993–1000. http://dx.doi.org/10.1002/ajmg.a.33828.
Texto completoSafka Brozkova, Dana, Anna Uhrova Meszarosova, Petra Lassuthova, Lukáš Varga, David Staněk, Silvia Borecká, Jana Laštůvková et al. "The Cause of Hereditary Hearing Loss in GJB2 Heterozygotes—A Comprehensive Study of the GJB2/DFNB1 Region". Genes 12, n.º 5 (1 de mayo de 2021): 684. http://dx.doi.org/10.3390/genes12050684.
Texto completoKraatari-Tiri, Minna, Maria K. Haanpää, Tytti Willberg, Pia Pohjola, Riikka Keski-Filppula, Outi Kuismin, Jukka S. Moilanen, Sanna Häkli y Elisa Rahikkala. "Clinical and Genetic Characteristics of Finnish Patients with Autosomal Recessive and Dominant Non-Syndromic Hearing Loss Due to Pathogenic TMC1 Variants". Journal of Clinical Medicine 11, n.º 7 (26 de marzo de 2022): 1837. http://dx.doi.org/10.3390/jcm11071837.
Texto completoPshennikova, Vera G., Nikolay A. Barashkov, Georgii P. Romanov, Fedor M. Teryutin, Aisen V. Solov’ev, Nyurgun N. Gotovtsev, Alena A. Nikanorova et al. "Comparison of Predictive In Silico Tools on Missense Variants in GJB2, GJB6, and GJB3 Genes Associated with Autosomal Recessive Deafness 1A (DFNB1A)". Scientific World Journal 2019 (20 de marzo de 2019): 1–9. http://dx.doi.org/10.1155/2019/5198931.
Texto completoDobric, Bojana, Danijela Radivojevic, Jovana Jecmenica, Pavlos Fanis, Vassos Neocleous, Leonidas Phylactou y Marina Djurisic. "Prevalence of variants in DFNB1 locus in Serbian patients with autosomal recessive non-syndromic hearing loss". Genetika 54, n.º 1 (2022): 447–56. http://dx.doi.org/10.2298/gensr2201447d.
Texto completoRiazuddin, Saima, Caley M. Castelein, Zubair M. Ahmed, Anil K. Lalwani, Mary A. Mastroianni, Sadaf Naz, Tenesha N. Smith et al. "Dominant modifier DFNM1 suppresses recessive deafness DFNB26". Nature Genetics 26, n.º 4 (diciembre de 2000): 431–34. http://dx.doi.org/10.1038/82558.
Texto completoGuo, Yingshi, Valentina Pilipenko, Lynne H. Y. Lim, Hongwei Dou, Liane Johnson, C. R. Srikumari Srisailapathy, Arabandi Ramesh, Daniel I. Choo, Richard J. H. Smith y John H. Greinwald. "Refining the DFNB17 interval in consanguineous Indian families". Molecular Biology Reports 31, n.º 2 (junio de 2004): 97–105. http://dx.doi.org/10.1023/b:mole.0000031385.64105.61.
Texto completoDe Leenheer, Els M. R., Patrick L. M. Huygen, Richard J. H. Smith, Sigrid Wayne y W. R. J. Cremers. "The DFNA10 Phenotype". Annals of Otology, Rhinology & Laryngology 110, n.º 9 (septiembre de 2001): 861–66. http://dx.doi.org/10.1177/000348940111000910.
Texto completoSimon, François, Françoise Denoyelle y Mathieu Beraneck. "Interpreting pendred syndrome as a foetal hydrops: Clinical and animal model evidence". Journal of Vestibular Research 31, n.º 4 (28 de julio de 2021): 315–21. http://dx.doi.org/10.3233/ves-200789.
Texto completoRomanov, Georgii P., Anna A. Smirnova, Vladimir I. Zamyatin, Aleksey M. Mukhin, Fedor V. Kazantsev, Vera G. Pshennikova, Fedor M. Teryutin et al. "Agent-Based Modeling of Autosomal Recessive Deafness 1A (DFNB1A) Prevalence with Regard to Intensity of Selection Pressure in Isolated Human Population". Biology 11, n.º 2 (7 de febrero de 2022): 257. http://dx.doi.org/10.3390/biology11020257.
Texto completoChen, Achih H., Dietrich A. Stephan, Tama Hasson, Kunihiro Fukushima, Christiana M. Nelissen, Arthur F. Chen, Andrew I. Jun, Arabandi Ramesh, Guy Van Camp y Richard J. H. Smith. "MYO1F as a Candidate Gene for Nonsyndromic Deafness, DFNB15". Archives of Otolaryngology–Head & Neck Surgery 127, n.º 8 (1 de agosto de 2001): 921. http://dx.doi.org/10.1001/archotol.127.8.921.
Texto completoOonk, A. M. M., A. J. Beynon, T. A. Peters, H. P. M. Kunst, R. J. C. Admiraal, H. Kremer, B. Verbist y R. J. E. Pennings. "Vestibular function and temporal bone imaging in DFNB1". Hearing Research 327 (septiembre de 2015): 227–34. http://dx.doi.org/10.1016/j.heares.2015.07.009.
Texto completoTona, Risa, Ivan A. Lopez, Cristina Fenollar-Ferrer, Rabia Faridi, Claudio Anselmi, Asma A. Khan, Mohsin Shahzad et al. "Mouse Models of Human Pathogenic Variants of TBC1D24 Associated with Non-Syndromic Deafness DFNB86 and DFNA65 and Syndromes Involving Deafness". Genes 11, n.º 10 (24 de septiembre de 2020): 1122. http://dx.doi.org/10.3390/genes11101122.
Texto completoLi, Peipei, Zongzhuang Wen, Guangkai Zhang, Aizhen Zhang, Xiaolong Fu y Jiangang Gao. "Knock-In Mice with Myo3a Y137C Mutation Displayed Progressive Hearing Loss and Hair Cell Degeneration in the Inner Ear". Neural Plasticity 2018 (5 de julio de 2018): 1–10. http://dx.doi.org/10.1155/2018/4372913.
Texto completoPennings, Ronald J. E., Vedat Topsakal, Lisa Astuto, Arjan P. M. de Brouwer, Mariette Wagenaar, Patrick L. M. Huygen, William J. Kimberling, August F. Deutman, Hannie Kremer y Cor W. R. J. Cremers. "Variable Clinical Features in Patients with CDH23 Mutations (USH1D-DFNB12)". Otology & Neurotology 25, n.º 5 (septiembre de 2004): 699–706. http://dx.doi.org/10.1097/00129492-200409000-00009.
Texto completoYasunaga, T. y T. Wakabayashi. "Evaluation of a 2k CCD camera with an epitaxially grown CsI scintillator for recording energy-filtered electron cryo-micrographs". Journal of Electron Microscopy 57, n.º 3 (3 de marzo de 2008): 101–12. http://dx.doi.org/10.1093/jmicro/dfn006.
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