Further audiovestibular characterization of DFNB77, caused by deleterious variants in LOXHD1, and investigation into the involvement of Fuchs corneal dystrophy.

Autor: Wesdorp, M., Schreur, V., Beynon, A. J., Oostrik, J., van de Kamp, J. M., Elting, M. W., van den Boogaard, M.‐J.H., Feenstra, I., Admiraal, R. J. C., Kunst, H. P. M., Hoyng, C. B., Kremer, H., Yntema, H. G., Pennings, R. J. E., Schraders, M.

Publikováno v: Clinical Genetics; Aug2018, Vol. 94 Issue 2, p221-231, 11p, 3 Diagrams, 4 Charts, 1 Graph

Molecular Biomarkers in Prediction of High-Grade Transformation and Outcome in Patients with Follicular Lymphoma: A Comprehensive Systemic Review.

Autor: Enemark, Marie Hairing^1,2 (AUTHOR) mariem@rm.dk, Hemmingsen, Jonas Klejs¹ (AUTHOR) johemm@rm.dk, Jensen, Maja Lund¹ (AUTHOR) majalj@rm.dk, Kridel, Robert³ (AUTHOR) robert.kridel@uhn.ca, Ludvigsen, Maja^1,2 (AUTHOR) majlud@rm.dk

Publikováno v: International Journal of Molecular Sciences. Oct2024, Vol. 25 Issue 20, p11179. 52p.

Nanopore Deep Sequencing as a Tool to Characterize and Quantify Aberrant Splicing Caused by Variants in Inherited Retinal Dystrophy Genes.

Autor: Maggi, Jordi¹ (AUTHOR) maggi@medmolgen.uzh.ch, Feil, Silke¹ (AUTHOR) feil@medmolgen.uzh.ch, Gloggnitzer, Jiradet¹ (AUTHOR) gloggnitzer@medmolgen.uzh.ch, Maggi, Kevin¹ (AUTHOR) kmaggi@medmolgen.uzh.ch, Bachmann-Gagescu, Ruxandra^2,3,4 (AUTHOR) ruxandra.bachmann@mls.uzh.ch, Gerth-Kahlert, Christina⁵ (AUTHOR) christina.gerth-kahlert@usz.ch, Koller, Samuel¹ (AUTHOR) koller@medmolgen.uzh.ch, Berger, Wolfgang^1,4,6 (AUTHOR) berger@medmolgen.uzh.ch

Publikováno v: International Journal of Molecular Sciences. Sep2024, Vol. 25 Issue 17, p9569. 42p.

Progressive sensorineural hearing loss and normal vestibular function in a Dutch DFNB7/11 family with a novel mutation in TMC1

Autor: Heer, A.M. de, Collin, R.W.J., Huygen, P.L.M., Schraders, M., Oostrik, J., Rouwette, M., Kunst, H.P.M., Kremer, J.M.J., Cremers, C.W.R.J.

Publikováno v: Audiology and Neuro-Otology, 16, 93-105
Audiology and Neuro-Otology, 16, 2, pp. 93-105

Item does not contain fulltext In a Dutch family with autosomal recessive hearing loss, genome-wide single-nucleotide polymorphism analysis mapped the genetic defect to the DFNB7/11 locus. A novel homozygous A-to-G change in the TMC1 gene was detecte

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::5d0224f224c5d34a0cd4d8aff5ec5197
http://hdl.handle.net/2066/97261

Grxcr2 is required for stereocilia morphogenesis in the cochlea.

Autor: Avenarius MR; Department of Otolaryngology/Kresge Hearing Research Institute, University of Michigan Medical School, Ann Arbor, Michigan, United States of America.; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan, United States of America., Jung JY; Department of Otolaryngology/Kresge Hearing Research Institute, University of Michigan Medical School, Ann Arbor, Michigan, United States of America., Askew C; Neuroscience Graduate Program, University of Virginia, Charlottesville, Virginia, United States of America.; Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, United States of America., Jones SM; Department of Communication Sciences and Disorders, East Carolina University, Greenville, North Carolina, United States of America., Hunker KL; Department of Otolaryngology/Kresge Hearing Research Institute, University of Michigan Medical School, Ann Arbor, Michigan, United States of America., Azaiez H; Molecular Otolaryngology and Renal Research Laboratories, Carver College of Medicine, University of Iowa, Iowa City, Iowa, United States of America., Rehman AU; Section on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Maryland, United States of America., Schraders M; Hearing & Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Najmabadi H; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Kremer H; Hearing & Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Smith RJH; Molecular Otolaryngology and Renal Research Laboratories, Carver College of Medicine, University of Iowa, Iowa City, Iowa, United States of America., Géléoc GSG; Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, United States of America., Dolan DF; Department of Otolaryngology/Kresge Hearing Research Institute, University of Michigan Medical School, Ann Arbor, Michigan, United States of America., Raphael Y; Department of Otolaryngology/Kresge Hearing Research Institute, University of Michigan Medical School, Ann Arbor, Michigan, United States of America., Kohrman DC; Department of Otolaryngology/Kresge Hearing Research Institute, University of Michigan Medical School, Ann Arbor, Michigan, United States of America.; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan, United States of America.

Publikováno v: PloS one [PLoS One] 2018 Aug 29; Vol. 13 (8), pp. e0201713. Date of Electronic Publication: 2018 Aug 29 (Print Publication: 2018).