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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: oostrik j. 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.
Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment.
Collin RW, Kalay E, Oostrik J, Caylan R, Wollnik B, Arslan S, den Hollander AI, Birinci Y, Lichtner P, Strom TM, Toraman B, Hoefsloot LH, Cremers CW, Brunner HG, Cremers FP, Karaguzel A, Kremer H. Collin RW, et al. Among authors: oostrik j. Hum Mutat. 2007 Jul;28(7):718-23. doi: 10.1002/humu.20510. Hum Mutat. 2007. PMID: 17373699
Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35.
Collin RW, Kalay E, Tariq M, Peters T, van der Zwaag B, Venselaar H, Oostrik J, Lee K, Ahmed ZM, Caylan R, Li Y, Spierenburg HA, Eyupoglu E, Heister A, Riazuddin S, Bahat E, Ansar M, Arslan S, Wollnik B, Brunner HG, Cremers CW, Karaguzel A, Ahmad W, Cremers FP, Vriend G, Friedman TB, Riazuddin S, Leal SM, Kremer H. Collin RW, et al. Among authors: oostrik j. Am J Hum Genet. 2008 Jan;82(1):125-38. doi: 10.1016/j.ajhg.2007.09.008. Am J Hum Genet. 2008. PMID: 18179891 Free PMC article.
Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment.
Schraders M, Lee K, Oostrik J, Huygen PL, Ali G, Hoefsloot LH, Veltman JA, Cremers FP, Basit S, Ansar M, Cremers CW, Kunst HP, Ahmad W, Admiraal RJ, Leal SM, Kremer H. Schraders M, et al. Among authors: oostrik j. Am J Hum Genet. 2010 Feb 12;86(2):138-47. doi: 10.1016/j.ajhg.2009.12.017. Epub 2010 Feb 4. Am J Hum Genet. 2010. PMID: 20137778 Free PMC article.
Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment.
Schraders M, Haas SA, Weegerink NJ, Oostrik J, Hu H, Hoefsloot LH, Kannan S, Huygen PL, Pennings RJ, Admiraal RJ, Kalscheuer VM, Kunst HP, Kremer H. Schraders M, et al. Among authors: oostrik j. Am J Hum Genet. 2011 May 13;88(5):628-34. doi: 10.1016/j.ajhg.2011.04.012. Epub 2011 May 5. Am J Hum Genet. 2011. PMID: 21549342 Free PMC article.
47 results