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Items: 1 to 20 of 31


Novel compound heterozygous mutations in the OTOF Gene identified by whole-exome sequencing in auditory neuropathy spectrum disorder.

Tang F, Ma D, Wang Y, Qiu Y, Liu F, Wang Q, Lu Q, Shi M, Xu L, Liu M, Liang J.

BMC Med Genet. 2017 Mar 23;18(1):35. doi: 10.1186/s12881-017-0400-0.


Pejvakin, a Candidate Stereociliary Rootlet Protein, Regulates Hair Cell Function in a Cell-Autonomous Manner.

Kazmierczak M, Kazmierczak P, Peng AW, Harris SL, Shah P, Puel JL, Lenoir M, Franco SJ, Schwander M.

J Neurosci. 2017 Mar 29;37(13):3447-3464. doi: 10.1523/JNEUROSCI.2711-16.2017. Epub 2017 Feb 16.


Conditional deletion of pejvakin in adult outer hair cells causes progressive hearing loss in mice.

Harris SL, Kazmierczak M, Pangršič T, Shah P, Chuchvara N, Barrantes-Freer A, Moser T, Schwander M.

Neuroscience. 2017 Mar 6;344:380-393. doi: 10.1016/j.neuroscience.2016.12.055. Epub 2017 Jan 9.


Relationship Between Patients with Clinical Auditory Neuropathy Spectrum Disorder and Mutations in Gjb2 Gene.

de Carvalho GM, Z Ramos P, M Castilho A, C Guimarães A, L Sartorato E.

Open Neurol J. 2016 Sep 30;10:127-135. eCollection 2016.


Refinement of Molecular Diagnostic Protocol of Auditory Neuropathy Spectrum Disorder: Disclosure of Significant Level of Etiologic Homogeneity in Koreans and Its Clinical Implications.

Chang MY, Kim AR, Kim NK, Lee C, Park WY, Choi BY.

Medicine (Baltimore). 2015 Nov;94(47):e1996. doi: 10.1097/MD.0000000000001996.


Screening of genetic alterations related to non-syndromic hearing loss using MassARRAY iPLEX® technology.

Svidnicki MC, Silva-Costa SM, Ramos PZ, dos Santos NZ, Martins FT, Castilho AM, Sartorato EL.

BMC Med Genet. 2015 Sep 23;16:85. doi: 10.1186/s12881-015-0232-8.


EPS8L2 is a new causal gene for childhood onset autosomal recessive progressive hearing loss.

Dahmani M, Ammar-Khodja F, Bonnet C, Lefèvre GM, Hardelin JP, Ibrahim H, Mallek Z, Petit C.

Orphanet J Rare Dis. 2015 Aug 19;10:96. doi: 10.1186/s13023-015-0316-8.


Identifying Children With Poor Cochlear Implantation Outcomes Using Massively Parallel Sequencing.

Wu CC, Lin YH, Liu TC, Lin KN, Yang WS, Hsu CJ, Chen PL, Wu CM.

Medicine (Baltimore). 2015 Jul;94(27):e1073. doi: 10.1097/MD.0000000000001073.


Cortical development and neuroplasticity in Auditory Neuropathy Spectrum Disorder.

Sharma A, Cardon G.

Hear Res. 2015 Dec;330(Pt B):221-32. doi: 10.1016/j.heares.2015.06.001. Epub 2015 Jun 10. Review.


Inner ear symptoms and disease: pathophysiological understanding and therapeutic options.

Ciuman RR.

Med Sci Monit. 2013 Dec 23;19:1195-210. doi: 10.12659/MSM.889815. Review.


Functional conservation of Gsdma cluster genes specifically duplicated in the mouse genome.

Tanaka S, Mizushina Y, Kato Y, Tamura M, Shiroishi T.

G3 (Bethesda). 2013 Oct 3;3(10):1843-50. doi: 10.1534/g3.113.007393.


Genetic Linkage Analysis of 15 DFNB Loci in a Group of Iranian Families with Autosomal Recessive Hearing Loss.

Tabatabaiefar M, Alasti F, Zohour MM, Shariati L, Farrokhi E, Farhud D, Camp G, Noori-Daloii M, Chaleshtori MH.

Iran J Public Health. 2011;40(2):34-48. Epub 2011 Jun 30.


Auditory neuropathy associated with postnatally acquired cytomegalovirus infection in a very preterm infant.

Baerts W, van Straaten HL.

BMJ Case Rep. 2010 Oct 12;2010. pii: bcr0120102689. doi: 10.1136/bcr.01.2010.2689.


Autosomal recessive nonsyndromic deafness genes: a review.

Duman D, Tekin M.

Front Biosci (Landmark Ed). 2012 Jun 1;17:2213-36. Review.


A p.C343S missense mutation in PJVK causes progressive hearing loss.

Mujtaba G, Bukhari I, Fatima A, Naz S.

Gene. 2012 Aug 1;504(1):98-101. doi: 10.1016/j.gene.2012.05.013. Epub 2012 May 14.


Parallel signatures of sequence evolution among hearing genes in echolocating mammals: an emerging model of genetic convergence.

Davies KT, Cotton JA, Kirwan JD, Teeling EC, Rossiter SJ.

Heredity (Edinb). 2012 May;108(5):480-9. doi: 10.1038/hdy.2011.119. Epub 2011 Dec 14.


Variants of OTOF and PJVK genes in Chinese patients with auditory neuropathy spectrum disorder.

Wang J, Fan YY, Wang SJ, Liang PF, Wang JL, Qiu JH.

PLoS One. 2011;6(9):e24000. doi: 10.1371/journal.pone.0024000. Epub 2011 Sep 15.


Nerve maintenance and regeneration in the damaged cochlea.

Shibata SB, Budenz CL, Bowling SA, Pfingst BE, Raphael Y.

Hear Res. 2011 Nov;281(1-2):56-64. doi: 10.1016/j.heares.2011.04.019. Epub 2011 May 10. Review.


The DFNA5 gene, responsible for hearing loss and involved in cancer, encodes a novel apoptosis-inducing protein.

Op de Beeck K, Van Camp G, Thys S, Cools N, Callebaut I, Vrijens K, Van Nassauw L, Van Tendeloo VF, Timmermans JP, Van Laer L.

Eur J Hum Genet. 2011 Sep;19(9):965-73. doi: 10.1038/ejhg.2011.63. Epub 2011 Apr 27.


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