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Page 1
Combined optical coherence tomography and intravascular ultrasound radio frequency data analysis for plaque characterization. Classification accuracy of human coronary plaques in vitro.
Goderie TP, van Soest G, Garcia-Garcia HM, Gonzalo N, Koljenović S, van Leenders GJ, Mastik F, Regar E, Oosterhuis JW, Serruys PW, van der Steen AF. Goderie TP, et al. Int J Cardiovasc Imaging. 2010 Dec;26(8):843-50. doi: 10.1007/s10554-010-9631-2. Epub 2010 Apr 16. Int J Cardiovasc Imaging. 2010. PMID: 20396951 Free PMC article.
Exome variant prioritization in a large cohort of hearing-impaired individuals indicates IKZF2 to be associated with non-syndromic hearing loss and guides future research of unsolved cases.
Velde HM, Vaseghi-Shanjani M, Smits JJ, Ramakrishnan G, Oostrik J, Wesdorp M, Astuti G, Yntema HG, Hoefsloot L, Lanting CP, Huynen MA, Lehman A, Turvey SE; DOOFNL Consortium; Pennings RJE, Kremer H. Velde HM, et al. Hum Genet. 2024 Nov;143(11):1379-1399. doi: 10.1007/s00439-024-02706-w. Epub 2024 Oct 16. Hum Genet. 2024. PMID: 39406892 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.
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. 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.
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. 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.
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. Hum Genet. 2022 Apr;141(3-4):465-484. doi: 10.1007/s00439-021-02336-6. Epub 2021 Aug 19. Hum Genet. 2022. PMID: 34410491 Free PMC article.
15 results