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Year | Number of Results |
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2007 | 4 |
2024 | 0 |
PubMed (OMIM) for id: 494513
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Page 1
Novel mutations in the pejvakin gene are associated with autosomal recessive non-syndromic hearing loss in Iranian families.
Clin Genet. 2007 Sep;72(3):261-3. doi: 10.1111/j.1399-0004.2007.00852.x.
Clin Genet. 2007.
PMID: 17718865
Free 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.
Hum Mutat. 2007 Jul;28(7):718-23. doi: 10.1002/humu.20510.
Hum Mutat. 2007.
PMID: 17373699
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A forward genetics screen in mice identifies recessive deafness traits and reveals that pejvakin is essential for outer hair cell function.
Schwander M, Sczaniecka A, Grillet N, Bailey JS, Avenarius M, Najmabadi H, Steffy BM, Federe GC, Lagler EA, Banan R, Hice R, Grabowski-Boase L, Keithley EM, Ryan AF, Housley GD, Wiltshire T, Smith RJ, Tarantino LM, Müller U.
Schwander M, et al.
J Neurosci. 2007 Feb 28;27(9):2163-75. doi: 10.1523/JNEUROSCI.4975-06.2007.
J Neurosci. 2007.
PMID: 17329413
Free PMC article.
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Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction.
Ebermann I, Walger M, Scholl HP, Charbel Issa P, Lüke C, Nürnberg G, Lang-Roth R, Becker C, Nürnberg P, Bolz HJ.
Ebermann I, et al.
Hum Mutat. 2007 Jun;28(6):571-7. doi: 10.1002/humu.20478.
Hum Mutat. 2007.
PMID: 17301963
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Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy.
Delmaghani S, del Castillo FJ, Michel V, Leibovici M, Aghaie A, Ron U, Van Laer L, Ben-Tal N, Van Camp G, Weil D, Langa F, Lathrop M, Avan P, Petit C.
Delmaghani S, et al.
Nat Genet. 2006 Jul;38(7):770-8. doi: 10.1038/ng1829. Epub 2006 Jun 25.
Nat Genet. 2006.
PMID: 16804542
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