Статті в журналах з теми "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, no. 6 (June 1, 2023): 1616. http://dx.doi.org/10.3390/biomedicines11061616.
Повний текст джерелаDomínguez-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, no. 11 (October 31, 2023): 2943. http://dx.doi.org/10.3390/biomedicines11112943.
Повний текст джерелаBack, Daniela, Wafaa Shehata-Dieler, Barbara Vona, Michaela A. H. Hofrichter, Joerg Schroeder, Thomas Haaf, Torsten Rahne, Rudolf Hagen, and Sebastian P. Schraven. "Phenotypic Characterization of DFNB16-associated Hearing Loss." Otology & Neurotology 40, no. 1 (January 2019): e48-e55. http://dx.doi.org/10.1097/mao.0000000000002059.
Повний текст джерелаFaridi, 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, no. 7 (June 27, 2024): 845. http://dx.doi.org/10.3390/genes15070845.
Повний текст джерелаFrykholm, Carina, Joakim Klar, Tatjana Tomanovic, Adam Ameur, and Niklas Dahl. "Stereocilin gene variants associated with episodic vertigo: expansion of the DFNB16 phenotype." European Journal of Human Genetics 26, no. 12 (September 24, 2018): 1871–74. http://dx.doi.org/10.1038/s41431-018-0256-6.
Повний текст джерелаAvan, Paul, Sébastien Le Gal, Vincent Michel, Typhaine Dupont, Jean-Pierre Hardelin, Christine Petit, and 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, no. 51 (November 27, 2019): 25948–57. http://dx.doi.org/10.1073/pnas.1902781116.
Повний текст джерелаDrury, Stacy S., and Bronya J. B. Keats. "Mouse Tales from Kresge: The Deafness Mouse." Journal of the American Academy of Audiology 14, no. 06 (June 2003): 296–301. http://dx.doi.org/10.1055/s-0040-1715745.
Повний текст джерелаAchard, S., F. Simon, F. Denoyelle, and 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, no. 3 (June 2023): 129–32. http://dx.doi.org/10.1016/j.aforl.2022.10.008.
Повний текст джерелаCosetti, Maura, David Culang, Sumankrishna Kotla, Peter O'Brien, Daniel F. Eberl, and Frances Hannan. "Unique Transgenic Animal Model for Hereditary Hearing Loss." Annals of Otology, Rhinology & Laryngology 117, no. 11 (November 2008): 827–33. http://dx.doi.org/10.1177/000348940811701106.
Повний текст джерелаVona, 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, no. 1 (January 21, 2014): 49–55. http://dx.doi.org/10.1111/cge.12332.
Повний текст джерелаCampbell, 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, no. 12 (December 1, 1997): 1015–17. http://dx.doi.org/10.1136/jmg.34.12.1015.
Повний текст джерелаČada, 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, no. 12 (September 24, 2019): 3353–58. http://dx.doi.org/10.1007/s00405-019-05649-5.
Повний текст джерелаAmmar-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, no. 4 (July 2009): 174–79. http://dx.doi.org/10.1016/j.ejmg.2009.03.018.
Повний текст джерелаGao, Xue, Yong-Yi Yuan, Guo-Jian Wang, Jin-Cao Xu, Yu Su, Xi Lin, and 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.
Повний текст джерелаVerpy, 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, no. 3 (September 10, 2001): 345–49. http://dx.doi.org/10.1038/ng726.
Повний текст джерелаVillamar, Manuela, Ignacio del Castillo, Noelia Valle, Lourdes Romero, and 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, no. 4 (April 1999): 1238–41. http://dx.doi.org/10.1086/302321.
Повний текст джерелаDomínguez-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, no. 1 (January 15, 2022): 149. http://dx.doi.org/10.3390/genes13010149.
Повний текст джерелаVan 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, no. 7 (July 1, 1999): 532–36. http://dx.doi.org/10.1136/jmg.36.7.532.
Повний текст джерелаKochhar, Amit, Simon I. Angeli, Sandeep P. Dave, and Xue Z. Liu. "Imaging correlation of children with DFNB1 vs non-DFNB1 hearing loss." Otolaryngology–Head and Neck Surgery 140, no. 5 (May 2009): 665–69. http://dx.doi.org/10.1016/j.otohns.2009.01.031.
Повний текст джерелаConnell, Sarah S., Simon I. Angeli, Hamlet Suarez, Annelle V. Hodges, Thomas J. Balkany, and Xue Z. Liu. "Performance after cochlear implantation in DFNB1 patients." Otolaryngology–Head and Neck Surgery 137, no. 4 (October 2007): 596–602. http://dx.doi.org/10.1016/j.otohns.2007.02.017.
Повний текст джерелаIwasa, Yoichiro, Miles J. Klimara, Hidekane Yoshimura, William D. Walls, Ryotaro Omichi, Cody A. West, Seiji B. Shibata, Paul T. Ranum, and Richard JH Smith. "Mutation-agnostic RNA interference with engineered replacement rescuesTmc1-related hearing loss." Life Science Alliance 6, no. 3 (December 27, 2022): e202201592. http://dx.doi.org/10.26508/lsa.202201592.
Повний текст джерелаKochhar, Amit, Simon I. Angeli, Sandeep Dave, and Xue-Zhong Liu. "Imaging Correlation of DFNB1 vs Non-DFNB1 Hearing Loss." Otolaryngology–Head and Neck Surgery 139, no. 2_suppl (August 2008): P56. http://dx.doi.org/10.1016/j.otohns.2008.05.182.
Повний текст джерелаModamio-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, no. 2 (February 1, 2004): 14e—14. http://dx.doi.org/10.1136/jmg.2003.012500.
Повний текст джерелаJahn, Kelly N., Molly D. Bergan, and 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, no. 1 (March 5, 2020): 23–34. http://dx.doi.org/10.1044/2019_aja-19-00054.
Повний текст джерелаGao, 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.
Повний текст джерелаDomínguez-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, no. 7 (July 19, 2024): 951. http://dx.doi.org/10.3390/genes15070951.
Повний текст джерелаLe Nabec, Anaïs, Clara Blotas, Alinéor Briset, Mégane Collobert, Claude Férec, and Stéphanie Moisan. "3D Chromatin Organization Involving MEIS1 Factor in the cis-Regulatory Landscape of GJB2." International Journal of Molecular Sciences 23, no. 13 (June 23, 2022): 6964. http://dx.doi.org/10.3390/ijms23136964.
Повний текст джерелаPosukh, 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, and 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, no. 6 (June 5, 2019): 429. http://dx.doi.org/10.3390/genes10060429.
Повний текст джерелаOziębło, Dominika, Anita Obrycka, Artur Lorens, Henryk Skarżyński, and Monika Ołdak. "Cochlear Implantation Outcome in Children with DFNB1 locus Pathogenic Variants." Journal of Clinical Medicine 9, no. 1 (January 15, 2020): 228. http://dx.doi.org/10.3390/jcm9010228.
Повний текст джерелаNejatizadeh, Azim, MasoudAkbarzadeh Laleh, Marzieh Naseri, AliAkbar Poursadegh Zonouzi, AhmadPoursadegh Zonouzi, Marjan Masoudi, Najmeh Ahangari, and 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, no. 1 (2017): 99. http://dx.doi.org/10.4103/jrms.jrms_976_16.
Повний текст джерелаSakaguchi, N., F. Watari, A. Yokoyama, and Y. Nodasaka. "High-resolution electron microscopy of multi-wall carbon nanotubes in the subcutaneous tissue of rats." Journal of Electron Microscopy 57, no. 5 (July 25, 2008): 159–64. http://dx.doi.org/10.1093/jmicro/dfn016.
Повний текст джерелаKeats, Bronya J. B., and Charles I. Berlin. "Genomics and Hearing Impairment." Genome Research 9, no. 1 (January 1, 1999): 7–16. http://dx.doi.org/10.1101/gr.9.1.7.
Повний текст джерелаDahl, John P., Michael E. Stadler, Benjamin Y. Huang, Di Miao, Mihir R. Patel, Oliver F. Adunka, Craig A. Buchman, Jason P. Fine, and Carlton J. Zdanski. "Connexin-Related (DFNB1) Hearing Loss." Otolaryngology–Head and Neck Surgery 152, no. 5 (January 12, 2015): 889–96. http://dx.doi.org/10.1177/0194599814566399.
Повний текст джерелаVolo, T., C. Morando, E. Leonardi, S. Ghiselli, E. Emanuelli, A. Murgia, G. Babighian, and E. Orzan. "A028 Unraveling DFNB1 phenotype variability." International Journal of Pediatric Otorhinolaryngology 75 (May 2011): 6. http://dx.doi.org/10.1016/s0165-5876(11)70029-5.
Повний текст джерелаDodson, 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, and Kathleen S. Arnos. "Vestibular dysfunction in DFNB1 deafness." American Journal of Medical Genetics Part A 155, no. 5 (April 4, 2011): 993–1000. http://dx.doi.org/10.1002/ajmg.a.33828.
Повний текст джерелаSafka 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, no. 5 (May 1, 2021): 684. http://dx.doi.org/10.3390/genes12050684.
Повний текст джерелаKraatari-Tiri, Minna, Maria K. Haanpää, Tytti Willberg, Pia Pohjola, Riikka Keski-Filppula, Outi Kuismin, Jukka S. Moilanen, Sanna Häkli, and 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, no. 7 (March 26, 2022): 1837. http://dx.doi.org/10.3390/jcm11071837.
Повний текст джерелаPshennikova, 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 (March 20, 2019): 1–9. http://dx.doi.org/10.1155/2019/5198931.
Повний текст джерелаDobric, Bojana, Danijela Radivojevic, Jovana Jecmenica, Pavlos Fanis, Vassos Neocleous, Leonidas Phylactou, and Marina Djurisic. "Prevalence of variants in DFNB1 locus in Serbian patients with autosomal recessive non-syndromic hearing loss." Genetika 54, no. 1 (2022): 447–56. http://dx.doi.org/10.2298/gensr2201447d.
Повний текст джерелаRiazuddin, 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, no. 4 (December 2000): 431–34. http://dx.doi.org/10.1038/82558.
Повний текст джерелаGuo, Yingshi, Valentina Pilipenko, Lynne H. Y. Lim, Hongwei Dou, Liane Johnson, C. R. Srikumari Srisailapathy, Arabandi Ramesh, Daniel I. Choo, Richard J. H. Smith, and John H. Greinwald. "Refining the DFNB17 interval in consanguineous Indian families." Molecular Biology Reports 31, no. 2 (June 2004): 97–105. http://dx.doi.org/10.1023/b:mole.0000031385.64105.61.
Повний текст джерелаDe Leenheer, Els M. R., Patrick L. M. Huygen, Richard J. H. Smith, Sigrid Wayne, and W. R. J. Cremers. "The DFNA10 Phenotype." Annals of Otology, Rhinology & Laryngology 110, no. 9 (September 2001): 861–66. http://dx.doi.org/10.1177/000348940111000910.
Повний текст джерелаSimon, François, Françoise Denoyelle, and Mathieu Beraneck. "Interpreting pendred syndrome as a foetal hydrops: Clinical and animal model evidence." Journal of Vestibular Research 31, no. 4 (July 28, 2021): 315–21. http://dx.doi.org/10.3233/ves-200789.
Повний текст джерелаRomanov, 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, no. 2 (February 7, 2022): 257. http://dx.doi.org/10.3390/biology11020257.
Повний текст джерелаChen, Achih H., Dietrich A. Stephan, Tama Hasson, Kunihiro Fukushima, Christiana M. Nelissen, Arthur F. Chen, Andrew I. Jun, Arabandi Ramesh, Guy Van Camp, and Richard J. H. Smith. "MYO1F as a Candidate Gene for Nonsyndromic Deafness, DFNB15." Archives of Otolaryngology–Head & Neck Surgery 127, no. 8 (August 1, 2001): 921. http://dx.doi.org/10.1001/archotol.127.8.921.
Повний текст джерелаOonk, A. M. M., A. J. Beynon, T. A. Peters, H. P. M. Kunst, R. J. C. Admiraal, H. Kremer, B. Verbist, and R. J. E. Pennings. "Vestibular function and temporal bone imaging in DFNB1." Hearing Research 327 (September 2015): 227–34. http://dx.doi.org/10.1016/j.heares.2015.07.009.
Повний текст джерелаTona, 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, no. 10 (September 24, 2020): 1122. http://dx.doi.org/10.3390/genes11101122.
Повний текст джерелаLi, Peipei, Zongzhuang Wen, Guangkai Zhang, Aizhen Zhang, Xiaolong Fu, and Jiangang Gao. "Knock-In Mice with Myo3a Y137C Mutation Displayed Progressive Hearing Loss and Hair Cell Degeneration in the Inner Ear." Neural Plasticity 2018 (July 5, 2018): 1–10. http://dx.doi.org/10.1155/2018/4372913.
Повний текст джерелаPennings, 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, and Cor W. R. J. Cremers. "Variable Clinical Features in Patients with CDH23 Mutations (USH1D-DFNB12)." Otology & Neurotology 25, no. 5 (September 2004): 699–706. http://dx.doi.org/10.1097/00129492-200409000-00009.
Повний текст джерелаYasunaga, T., and 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, no. 3 (March 3, 2008): 101–12. http://dx.doi.org/10.1093/jmicro/dfn006.
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