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Interaural and sex differences in the natural evolution of hearing levels in pre-symptomatic and symptomatic carriers of the p.Pro51Ser variant in the COCH gene.
Moyaert J, Gilles A, Mertens G, Lammers MJW, Gommeren H, Janssens de Varebeke S, Fransen E, Verhaert N, Denys S, van de Berg R, Pennings R, Vanderveken O, Van Rompaey V. Moyaert J, et al. Among authors: pennings r. Sci Rep. 2024 Jan 2;14(1):184. doi: 10.1038/s41598-023-50583-6. Sci Rep. 2024. PMID: 38167558 Free PMC article.
Molecular characterization of WFS1 in patients with Wolfram syndrome.
van ven Ouweland JM, Cryns K, Pennings RJ, Walraven I, Janssen GM, Maassen JA, Veldhuijzen BF, Arntzenius AB, Lindhout D, Cremers CW, Van Camp G, Dikkeschei LD. van ven Ouweland JM, et al. Among authors: pennings rj. J Mol Diagn. 2003 May;5(2):88-95. doi: 10.1016/s1525-1578(10)60457-6. J Mol Diagn. 2003. PMID: 12707373 Free PMC article.
Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation.
Slijkerman RW, Vaché C, Dona M, García-García G, Claustres M, Hetterschijt L, Peters TA, Hartel BP, Pennings RJ, Millan JM, Aller E, Garanto A, Collin RW, Kremer H, Roux AF, Van Wijk E. Slijkerman RW, et al. Mol Ther Nucleic Acids. 2016 Nov 1;5(10):e381. doi: 10.1038/mtna.2016.89. Mol Ther Nucleic Acids. 2016. PMID: 27802265 Free article.
Hearing impairment in genotyped Wolfram syndrome patients.
Plantinga RF, Pennings RJ, Huygen PL, Bruno R, Eller P, Barrett TG, Vialettes B, Paquis-Fluklinger V, Lombardo F, Cremers CW. Plantinga RF, et al. Among authors: pennings rj. Ann Otol Rhinol Laryngol. 2008 Jul;117(7):494-500. doi: 10.1177/000348940811700704. Ann Otol Rhinol Laryngol. 2008. PMID: 18700423
Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis.
Schrauwen I, Valgaeren H, Tomas-Roca L, Sommen M, Altunoglu U, Wesdorp M, Beyens M, Fransen E, Nasir A, Vandeweyer G, Schepers A, Rahmoun M, van Beusekom E, Huentelman MJ, Offeciers E, Dhooghe I, Huber A, Van de Heyning P, Zanetti D, De Leenheer EMR, Gilissen C, Hoischen A, Cremers CW, Verbist B, de Brouwer APM, Padberg GW, Pennings R, Kayserili H, Kremer H, Van Camp G, van Bokhoven H. Schrauwen I, et al. Among authors: pennings r. Genet Med. 2019 May;21(5):1199-1208. doi: 10.1038/s41436-018-0300-5. Epub 2018 Oct 5. Genet Med. 2019. PMID: 30287925 Free article.
Attitudes of Potential Participants Towards Potential Gene Therapy Trials in Autosomal Dominant Progressive Sensorineural Hearing Loss.
Levie C, Moyaert J, Janssens de Varebeke S, Verdoodt D, Vanderveken OM, Topsakal V, Van Wijk E, de Vrieze E, Pennings R, Van de Berg R, Van Camp G, Ponsaerts P, Van Rompaey V. Levie C, et al. Among authors: pennings r. Otol Neurotol. 2021 Mar 1;42(3):384-389. doi: 10.1097/MAO.0000000000002981. Otol Neurotol. 2021. PMID: 33555744
121 results