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26 results

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Page 1
Stable long-term outcomes after cochlear implantation in subjects with TMPRSS3 associated hearing loss: a retrospective multicentre study.
Fehrmann MLA, Huinck WJ, Thijssen MEG, Haer-Wigman L, Yntema HG, Rotteveel LJC, Widdershoven JCC, Goderie T, van Dooren MF, Hoefsloot EH, van der Schroeff MP, Mylanus EAM; DOOFNL consortium; Lanting CP, Pennings RJE. Fehrmann MLA, et al. Among authors: lanting cp. J Otolaryngol Head Neck Surg. 2023 Dec 15;52(1):82. doi: 10.1186/s40463-023-00680-3. J Otolaryngol Head Neck Surg. 2023. PMID: 38102706 Free PMC article.
Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants.
Velde HM, Reurink J, Held S, Li CHZ, Yzer S, Oostrik J, Weeda J, Haer-Wigman L, Yntema HG, Roosing S, Pauleikhoff L, Lange C, Whelan L, Dockery A, Zhu J, Keegan DJ, Farrar GJ, Kremer H, Lanting CP, Damme M, Pennings RJE. Velde HM, et al. Among authors: lanting cp. Hum Genet. 2022 Nov;141(11):1723-1738. doi: 10.1007/s00439-022-02441-0. Epub 2022 Feb 28. Hum Genet. 2022. PMID: 35226187 Free PMC article.
Cochlear supporting cells require GAS2 for cytoskeletal architecture and hearing.
Chen T, Rohacek AM, Caporizzo M, Nankali A, Smits JJ, Oostrik J, Lanting CP, Kücük E, Gilissen C, van de Kamp JM, Pennings RJE, Rakowiecki SM, Kaestner KH, Ohlemiller KK, Oghalai JS, Kremer H, Prosser BL, Epstein DJ. Chen T, et al. Among authors: lanting cp. Dev Cell. 2021 May 17;56(10):1526-1540.e7. doi: 10.1016/j.devcel.2021.04.017. Epub 2021 May 7. Dev Cell. 2021. PMID: 33964205 Free PMC article.
Long-Term Outcomes of Cochlear Implantation in Usher Syndrome.
Fehrmann MLA, Lanting CP, Haer-Wigman L, Yntema HG, Mylanus EAM, Huinck WJ, Pennings RJE. Fehrmann MLA, et al. Among authors: lanting cp. Ear Hear. 2024 Nov-Dec 01;45(6):1542-1553. doi: 10.1097/AUD.0000000000001544. Epub 2024 Jul 11. Ear Hear. 2024. PMID: 38987893 Free PMC article.
The natural history and genotype-phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis.
Colbert BM, Lanting C, Smeal M, Blanton S, Dykxhoorn DM, Tang PC, Getchell RL, Velde H, Fehrmann M, Thorpe R, Chapagain P, Elkhaligy H, Kremer H, Yntema H, Haer-Wigman L, Redfield S, Sun T, Bruijn S, Plomp A, Goderie T, van de Kamp J, Free RH, Wassink-Ruiter JK, Widdershoven J, Vanhoutte E, Rotteveel L, Kriek M, van Dooren M, Hoefsloot L, de Gier HHW; DOOFNL Consortium; Schaefer A, Kolbe D, Azaiez H, Rabie G, Aburayyan A, Kawas M, Kanaan M, Holder J, Usami SI, Chen Z, Dai P, Holt J, Nelson R, Choi BY, Shearer E, Smith RJH, Pennings R, Liu XZ. Colbert BM, et al. Hum Genet. 2024 May;143(5):721-734. doi: 10.1007/s00439-024-02648-3. Epub 2024 Apr 30. Hum Genet. 2024. PMID: 38691166 Free PMC article.
Correction to: Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant.
Smits JJ, de Bruijn SE, Lanting CP, Oostrik J, O'Gorman L, Mantere T; DOOFNL Consortium; Cremers FPM, Roosing S, Yntema HG, de Vrieze E, Derks R, Hoischen A, Pegge SAH, Neveling K, Pennings RJE, Kremer H. Smits JJ, et al. Among authors: lanting cp. Hum Genet. 2022 Apr;141(3-4):991. doi: 10.1007/s00439-021-02377-x. Hum Genet. 2022. PMID: 34608567 Free PMC article. No abstract available.
26 results