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Items: 1 to 20 of 109

1.

Nonsyndromic hearing loss DFNA10 and a novel mutation of EYA4: evidence for correlation of normal cardiac phenotype with truncating mutations of the Eya domain.

Makishima T, Madeo AC, Brewer CC, Zalewski CK, Butman JA, Sachdev V, Arai AE, Holbrook BM, Rosing DR, Griffith AJ.

Am J Med Genet A. 2007 Jul 15;143A(14):1592-8.

PMID:
17567890
2.

Phenotypic variability in a seven-generation Swedish family segregating autosomal dominant hearing impairment due to a novel EYA4 frameshift mutation.

Frykholm C, Klar J, Arnesson H, Rehnman AC, Lodahl M, Wedén U, Dahl N, Tranebjærg L, Rendtorff ND.

Gene. 2015 May 25;563(1):10-6. doi: 10.1016/j.gene.2015.02.022. Epub 2015 Feb 11.

PMID:
25681523
3.

A novel splice site mutation in EYA4 causes DFNA10 hearing loss.

Hildebrand MS, Coman D, Yang T, Gardner RJ, Rose E, Smith RJ, Bahlo M, Dahl HH.

Am J Med Genet A. 2007 Jul 15;143A(14):1599-604. Erratum in: Am J Med Genet A. 2008 Apr 15;146A(8):1099.

PMID:
17568404
4.

A 4-bp insertion in the eya-homologous region (eyaHR) of EYA4 causes hearing impairment in a Hungarian family linked to DFNA10.

Pfister M, Tóth T, Thiele H, Haack B, Blin N, Zenner HP, Sziklai I, Nürnberg P, Kupka S.

Mol Med. 2002 Oct;8(10):607-11.

5.

A novel EYA4 mutation causing hearing loss in a Chinese DFNA family and genotype-phenotype review of EYA4 in deafness.

Huang A, Yuan Y, Liu Y, Zhu Q, Dai P.

J Transl Med. 2015 May 12;13:154. doi: 10.1186/s12967-015-0483-3.

6.

Identification of a novel truncation mutation of EYA4 in moderate degree hearing loss by targeted exome sequencing.

Choi HS, Kim AR, Kim SH, Choi BY.

Eur Arch Otorhinolaryngol. 2016 May;273(5):1123-9. doi: 10.1007/s00405-015-3661-2. Epub 2015 May 27.

PMID:
26015337
7.

Evaluation of the contribution of the EYA4 and GRHL2 genes in Korean patients with autosomal dominant non-syndromic hearing loss.

Kim YR, Kim MA, Sagong B, Bae SH, Lee HJ, Kim HJ, Choi JY, Lee KY, Kim UK.

PLoS One. 2015 Mar 17;10(3):e0119443. doi: 10.1371/journal.pone.0119443. eCollection 2015.

8.

Exome Sequencing Identifies a Mutation in EYA4 as a Novel Cause of Autosomal Dominant Non-Syndromic Hearing Loss.

Liu F, Hu J, Xia W, Hao L, Ma J, Ma D, Ma Z.

PLoS One. 2015 May 11;10(5):e0126602. doi: 10.1371/journal.pone.0126602. eCollection 2015.

9.

Identification of I411K, a novel missense EYA4 mutation causing autosomal dominant non‑syndromic hearing loss.

Tan M, Shen X, Yao J, Wei Q, Lu Y, Cao X, Xing G.

Int J Mol Med. 2014 Dec;34(6):1467-72. doi: 10.3892/ijmm.2014.1939. Epub 2014 Sep 19.

10.

Audiometric Characteristics of a Dutch DFNA10 Family With Mid-Frequency Hearing Impairment.

van Beelen E, Oonk AM, Leijendeckers JM, Hoefsloot EH, Pennings RJ, Feenstra I, Dieker HJ, Huygen PL, Snik AF, Kremer H, Kunst HP.

Ear Hear. 2016 Jan-Feb;37(1):103-11. doi: 10.1097/AUD.0000000000000217.

PMID:
26331839
11.

Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus.

Wayne S, Robertson NG, DeClau F, Chen N, Verhoeven K, Prasad S, Tranebjärg L, Morton CC, Ryan AF, Van Camp G, Smith RJ.

Hum Mol Genet. 2001 Feb 1;10(3):195-200.

12.

A novel mutation of EYA4 in a large Chinese family with autosomal dominant middle-frequency sensorineural hearing loss by targeted exome sequencing.

Sun Y, Zhang Z, Cheng J, Lu Y, Yang CL, Luo YY, Yang G, Yang H, Zhu L, Zhou J, Yao HQ.

J Hum Genet. 2015 Jun;60(6):299-304. doi: 10.1038/jhg.2015.19. Epub 2015 Mar 26.

PMID:
25809937
13.

Dilated cardiomyopathy and sensorineural hearing loss: a heritable syndrome that maps to 6q23-24.

Schönberger J, Levy H, Grünig E, Sangwatanaroj S, Fatkin D, MacRae C, Stäcker H, Halpin C, Eavey R, Philbin EF, Katus H, Seidman JG, Seidman CE.

Circulation. 2000 Apr 18;101(15):1812-8.

14.

Exome sequencing identifies a novel frameshift mutation of MYO6 as the cause of autosomal dominant nonsyndromic hearing loss in a Chinese family.

Cheng J, Zhou X, Lu Y, Chen J, Han B, Zhu Y, Liu L, Choy KW, Han D, Sham PC, Zhang MQ, Zhang X, Yuan H.

Ann Hum Genet. 2014 Nov;78(6):410-23. doi: 10.1111/ahg.12084. Epub 2014 Sep 17.

PMID:
25227905
15.

Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss.

Schönberger J, Wang L, Shin JT, Kim SD, Depreux FF, Zhu H, Zon L, Pizard A, Kim JB, Macrae CA, Mungall AJ, Seidman JG, Seidman CE.

Nat Genet. 2005 Apr;37(4):418-22. Epub 2005 Feb 27.

PMID:
15735644
16.

A novel frameshift mutation in KCNQ4 in a family with autosomal recessive non-syndromic hearing loss.

Wasano K, Mutai H, Obuchi C, Masuda S, Matsunaga T.

Biochem Biophys Res Commun. 2015 Aug 7;463(4):582-6. doi: 10.1016/j.bbrc.2015.05.099. Epub 2015 May 31.

PMID:
26036578
17.

A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family.

Sanggaard KM, Kjaer KW, Eiberg H, Nürnberg G, Nürnberg P, Hoffman K, Jensen H, Sørum C, Rendtorff ND, Tranebjaerg L.

Am J Med Genet A. 2008 Apr 15;146A(8):1017-25. doi: 10.1002/ajmg.a.32174.

PMID:
18348273
18.

A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family.

Audo I, Bujakowska K, Mohand-Saïd S, Tronche S, Lancelot ME, Antonio A, Germain A, Lonjou C, Carpentier W, Sahel JA, Bhattacharya S, Zeitz C.

Mol Vis. 2011;17:1598-606. Epub 2011 Jun 15.

19.

A rare novel mutation in TECTA causes autosomal dominant nonsyndromic hearing loss in a Mongolian family.

Bai H, Yang X, Temuribagen, Guilan, Suyalatu, Narisu, Wu H, Chen Y, Liu Y, Wu Q.

BMC Med Genet. 2014 Mar 19;15:34. doi: 10.1186/1471-2350-15-34.

20.

Exome sequencing and linkage analysis identified tenascin-C (TNC) as a novel causative gene in nonsyndromic hearing loss.

Zhao Y, Zhao F, Zong L, Zhang P, Guan L, Zhang J, Wang D, Wang J, Chai W, Lan L, Li Q, Han B, Yang L, Jin X, Yang W, Hu X, Wang X, Li N, Li Y, Petit C, Wang J, Wang HY, Wang Q.

PLoS One. 2013 Jul 30;8(7):e69549. doi: 10.1371/journal.pone.0069549. Print 2013.

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