Here, we report a 12-year-old female patient with typical USH1. GeneTests GeneReviews - Deafness and Hereditary Hearing Loss Overview. Yang D, Feng Y, Lu H, Chen K, Xu J, Li P, Wang T, Xia D, Wu YYang D, et al. Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. (such as Usher Syndrome, Deafness-Infertility Syndrome, Perrault Syndrome and.
#USHER SYNDROME GENE REVIEWS DRIVER#
USH2A mutation and specific driver mutation subtypes are associated with clinical efficacy of immune checkpoint inhibitors in lung cancer.Reurink J, Weisschuh N, Garanto A, Dockery A, van den Born LI, Fajardy I, Haer-Wigman L, Kohl S, Wissinger B, Farrar GJ, Ben-Yosef T, Pfiffner FK, Berger W, Weener ME, Dudakova L, Liskova P, Sharon D, Salameh M, Offenheim A, Heon E, Girotto G, Gasparini P, Morgan A, Bergen AA, Ten Brink JB, Klaver CCW, Tranebjærg L, Rendtorff ND, Vermeer S, Smits JJ, Pennings RJE, Aben M, Oostrik J, Astuti GDN, Corominas Galbany J, Kroes HY, Phan M, van Zelst-Stams WAG, Thiadens AAHJ, Verheij JBGM, van Schooneveld MJ, de Bruijn SE, Li CHZ, Hoyng CB, Gilissen C, Vissers LELM, Cremers FPM, Kremer H, van Wijk E, Roosing SReurink J, et al. Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.Lee BJH, Tham YC, Tan TE, Bylstra Y, Lim WK, Jain K, Chan CM, Mathur R, Cheung CMG, Fenner BJLee BJH, et al. O’Rielly, Anne Griffin, Jessica Squires, Taylor Burt, Sara Fernandez, Bridget Fernandez, Jim Houston, Jiayi Zhou, Nicole M. Characterizing the genotypic spectrum of retinitis pigmentosa in East Asian populations: a systematic review. Novel Usher syndrome pathogenic variants identified in cases with hearing and vision loss Justin A.Čadonič K, Sajovic J, Hawlina M, Fakin AČadonič K, et al. Natural Disease Course in Usher Syndrome Patients Harboring USH2A Variant p.Cys870* in Exon 13, Amenable to Exon Skipping Therapy.Ordoñez-Labastida V, Chacon-Camacho OF, Lopez-Rodriguez VR, Zenteno JCOrdoñez-Labastida V, et al. USH2A mutational spectrum causing syndromic and non-syndromic retinal dystrophies in a large cohort of Mexican patients.
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