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Items: 1 to 20 of 29

1.

Variable degrees of hearing impairment in a Dutch DFNX4 (DFN6) family.

Weegerink NJ, Huygen PL, Schraders M, Kremer H, Pennings RJ, Kunst HP.

Hear Res. 2011 Dec;282(1-2):167-77. doi: 10.1016/j.heares.2011.08.010. Epub 2011 Aug 27.

PMID:
21893181
2.

Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing.

Shearer AE, DeLuca AP, Hildebrand MS, Taylor KR, Gurrola J 2nd, Scherer S, Scheetz TE, Smith RJ.

Proc Natl Acad Sci U S A. 2010 Dec 7;107(49):21104-9. doi: 10.1073/pnas.1012989107. Epub 2010 Nov 15.

3.

Audioprofile-directed screening identifies novel mutations in KCNQ4 causing hearing loss at the DFNA2 locus.

Hildebrand MS, Tack D, McMordie SJ, DeLuca A, Hur IA, Nishimura C, Huygen P, Casavant TL, Smith RJ.

Genet Med. 2008 Nov;10(11):797-804. doi: 10.1097/GIM.0b013e318187e106.

4.

Variations in HSP70 genes associated with noise-induced hearing loss in two independent populations.

Konings A, Van Laer L, Michel S, Pawelczyk M, Carlsson PI, Bondeson ML, Rajkowska E, Dudarewicz A, Vandevelde A, Fransen E, Huyghe J, Borg E, Sliwinska-Kowalska M, Van Camp G.

Eur J Hum Genet. 2009 Mar;17(3):329-35. doi: 10.1038/ejhg.2008.172. Epub 2008 Sep 24.

5.

Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?

Hilgert N, Smith RJ, Van Camp G.

Mutat Res. 2009 Mar-Jun;681(2-3):189-96. doi: 10.1016/j.mrrev.2008.08.002. Epub 2008 Aug 29. Review.

6.

Genome-wide SNP-based linkage scan identifies a locus on 8q24 for an age-related hearing impairment trait.

Huyghe JR, Van Laer L, Hendrickx JJ, Fransen E, Demeester K, Topsakal V, Kunst S, Manninen M, Jensen M, Bonaconsa A, Mazzoli M, Baur M, Hannula S, Mäki-Torkko E, Espeso A, Van Eyken E, Flaquer A, Becker C, Stephens D, Sorri M, Orzan E, Bille M, Parving A, Pyykkö I, Cremers CW, Kremer H, Van de Heyning PH, Wienker TF, Nürnberg P, Pfister M, Van Camp G.

Am J Hum Genet. 2008 Sep;83(3):401-7. doi: 10.1016/j.ajhg.2008.08.002. Epub 2008 Aug 28.

7.

Review and meta-analysis of the epidemiology of congenital cytomegalovirus (CMV) infection.

Kenneson A, Cannon MJ.

Rev Med Virol. 2007 Jul-Aug;17(4):253-76. Review.

PMID:
17579921
8.

Mitochondrial deafness.

Kokotas H, Petersen MB, Willems PJ.

Clin Genet. 2007 May;71(5):379-91. Review.

PMID:
17489842
9.

Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome.

Hoskins BE, Cramer CH, Silvius D, Zou D, Raymond RM, Orten DJ, Kimberling WJ, Smith RJ, Weil D, Petit C, Otto EA, Xu PX, Hildebrandt F.

Am J Hum Genet. 2007 Apr;80(4):800-4. Epub 2007 Feb 22.

10.

Newborn hearing screening--a silent revolution.

Morton CC, Nance WE.

N Engl J Med. 2006 May 18;354(20):2151-64. Review. No abstract available.

PMID:
16707752
11.

Deletion of and novel missense mutation in POU3F4 in 2 families segregating X-linked nonsyndromic deafness.

Vore AP, Chang EH, Hoppe JE, Butler MG, Forrester S, Schneider MC, Smith LL, Burke DW, Campbell CA, Smith RJ.

Arch Otolaryngol Head Neck Surg. 2005 Dec;131(12):1057-63.

PMID:
16365218
12.

Preservation of hearing in cochlear implant surgery: advantages of combined electrical and acoustical speech processing.

Gantz BJ, Turner C, Gfeller KE, Lowder MW.

Laryngoscope. 2005 May;115(5):796-802.

PMID:
15867642
13.

Sensorineural hearing loss in children.

Smith RJ, Bale JF Jr, White KR.

Lancet. 2005 Mar 5-11;365(9462):879-90. Review.

PMID:
15752533
14.

SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.

Ruf RG, Xu PX, Silvius D, Otto EA, Beekmann F, Muerb UT, Kumar S, Neuhaus TJ, Kemper MJ, Raymond RM Jr, Brophy PD, Berkman J, Gattas M, Hyland V, Ruf EM, Schwartz C, Chang EH, Smith RJ, Stratakis CA, Weil D, Petit C, Hildebrandt F.

Proc Natl Acad Sci U S A. 2004 May 25;101(21):8090-5. Epub 2004 May 12.

15.

The effect of GJB2 allele variants on performance after cochlear implantation.

Bauer PW, Geers AE, Brenner C, Moog JS, Smith RJ.

Laryngoscope. 2003 Dec;113(12):2135-40.

PMID:
14660916
16.

Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease.

Cryns K, Sivakumaran TA, Van den Ouweland JM, Pennings RJ, Cremers CW, Flothmann K, Young TL, Smith RJ, Lesperance MM, Van Camp G.

Hum Mutat. 2003 Oct;22(4):275-87. Review.

PMID:
12955714
17.

The implications of genetic testing for deafness.

Arnos KS.

Ear Hear. 2003 Aug;24(4):324-31. Review.

PMID:
12923423
18.

Localization of biotinidase in the brain: implications for its role in hearing loss in biotinidase deficiency.

Heller AJ, Stanley C, Shaia WT, Sismanis A, Spencer RF, Wolf B.

Hear Res. 2002 Nov;173(1-2):62-8.

PMID:
12372635
20.

Hearing loss is a common feature of symptomatic children with profound biotinidase deficiency.

Wolf B, Spencer R, Gleason T.

J Pediatr. 2002 Feb;140(2):242-6.

PMID:
11865279
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