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Items: 6

1.

Homoplasmy of the G7444A mtDNA and heterozygosity of the GJB2 c.35delG mutations in a family with hearing loss.

Kokotas H, Grigoriadou M, Yang L, Lodahl M, Rendtorff ND, Gyftodimou Y, Korres GS, Ferekidou E, Kandiloros D, Korres S, Tranebjærg L, Guan MX, Petersen MB.

Int J Pediatr Otorhinolaryngol. 2011 Jan;75(1):89-94. doi: 10.1016/j.ijporl.2010.10.016. Epub 2010 Nov 5.

PMID:
21056478
2.

Are GJB2 mutations an aggravating factor in the phenotypic expression of mitochondrial non-syndromic deafness?

Kokotas H, Grigoriadou M, Korres GS, Ferekidou E, Giannoulia-Karantana A, Kandiloros D, Korres S, Petersen MB.

J Hum Genet. 2010 May;55(5):265-9. doi: 10.1038/jhg.2010.23. Epub 2010 Mar 19. Review.

PMID:
20300122
3.

The role of mitochondrial DNA mutations in hearing loss.

Ding Y, Leng J, Fan F, Xia B, Xu P.

Biochem Genet. 2013 Aug;51(7-8):588-602. doi: 10.1007/s10528-013-9589-6. Epub 2013 Apr 21. Review.

PMID:
23605717
4.

Moderate hearing loss and pseudodominant inheritance due to L90P/35delG mutations in the GJB2 (connexin 26) gene.

Tekin M, Duman T, Boğoçlu G, Incesulu A, Cin S, Akar N.

Genet Couns. 2003;14(4):379-86. Review.

PMID:
14738110
5.
6.

[Mutations of mitochondrial tRNASer(UCN) and their connection with hearing loss].

Fan W, Tang X, Zheng B, Guan M, Xue L.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Feb 10;34(1):128-132. doi: 10.3760/cma.j.issn.1003-9406.2017.01.030. Review. Chinese.

PMID:
28186612

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