Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 98

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.

Coexistence of mitochondrial 12S rRNA C1494T and CO1/tRNA(Ser(UCN)) G7444A mutations in two Han Chinese pedigrees with aminoglycoside-induced and non-syndromic hearing loss.

Yuan H, Chen J, Liu X, Cheng J, Wang X, Yang L, Yang S, Cao J, Kang D, Dai P, Zhai S, Han D, Young WY, Guan MX.

Biochem Biophys Res Commun. 2007 Oct 12;362(1):94-100. Epub 2007 Aug 8.

PMID:
17698030
3.

GJB2 (connexin 26) gene mutations in Moroccan patients with autosomal recessive non-syndromic hearing loss and carrier frequency of the common GJB2-35delG mutation.

Abidi O, Boulouiz R, Nahili H, Ridal M, Alami MN, Tlili A, Rouba H, Masmoudi S, Chafik A, Hassar M, Barakat A.

Int J Pediatr Otorhinolaryngol. 2007 Aug;71(8):1239-45. Epub 2007 Jun 5.

PMID:
17553572
4.

Aminoglycoside-induced and non-syndromic hearing loss is associated with the G7444A mutation in the mitochondrial COI/tRNASer(UCN) genes in two Chinese families.

Zhu Y, Qian Y, Tang X, Wang J, Yang L, Liao Z, Li R, Ji J, Li Z, Chen J, Choo DI, Lu J, Guan MX.

Biochem Biophys Res Commun. 2006 Apr 14;342(3):843-50. Epub 2006 Feb 17.

PMID:
16500624
5.

Cosegregation of the G7444A mutation in the mitochondrial COI/tRNA(Ser(UCN)) genes with the 12S rRNA A1555G mutation in a Chinese family with aminoglycoside-induced and nonsyndromic hearing loss.

Yuan H, Qian Y, Xu Y, Cao J, Bai L, Shen W, Ji F, Zhang X, Kang D, Mo JQ, Greinwald JH, Han D, Zhai S, Young WY, Guan MX.

Am J Med Genet A. 2005 Oct 1;138A(2):133-40.

6.

[Mitochondrial DNA G7444A mutation may influence the phenotypic manifestation of the deafness-associated 12S rRNA A1555G mutation].

Yang AF, Zhu Y, Lu JX, Yang L, Zhao JY, Sun DM.

Yi Chuan. 2008 Jun;30(6):728-34. Chinese.

PMID:
18550495
7.

[Incidence of A1555G mutations in the mitochondrial DNA and 35delG in the GJB2 gene (connexin-26) in families with late onset non-syndromic sensorineural hearing loss from Cantabria].

Gallo-Terán J, Morales-Angulo C, del Castillo I, Villamar M, Moreno-Pelayo MA, García-Mantilla J, Moreno F.

Acta Otorrinolaringol Esp. 2002 Oct;53(8):563-71. Spanish.

8.

Mitochondrial tRNASer(UCN) gene is the hot spot for mutations associated with aminoglycoside-induced and non-syndromic hearing loss.

Jin L, Yang A, Zhu Y, Zhao J, Wang X, Yang L, Sun D, Tao Z, Tsushima A, Wu G, Xu L, Chen C, Yi B, Cai J, Tang X, Wang J, Li D, Yuan Q, Liao Z, Chen J, Li Z, Lu J, Guan MX.

Biochem Biophys Res Commun. 2007 Sep 14;361(1):133-9. Epub 2007 Jul 10.

PMID:
17659260
9.

[Study of mtDNA 12S rRNA A1555G, GJB2, GJB3 gene mutation in Uighur and Han people with hereditary nonsyndromic hearing loss in Xinjiang].

Li YH, Jiang H, Yang LJ, Xu HX, Li H, Li HW, Luo YH, Wang CW, Zou GH.

Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2010 Aug;45(8):645-51. Chinese.

PMID:
21055240
10.

[Analysis of GJB2 gene and mitochondrial DNA A1555G mutations in 16 families with non-syndromic hearing loss].

Wang W, Cheng HB, Yang N, Shi YC, Liu JZ, Li Q, Yang SM, Shen LY, Liu MJ, Chen Y, Li H.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012 Aug;29(4):388-92. doi: 10.3760/cma.j.issn.1003-9406.2012.04.003. Chinese.

PMID:
22875492
11.

Spectrum of genetic changes in patients with non-syndromic hearing impairment and extremely high carrier frequency of 35delG GJB2 mutation in Belarus.

Danilenko N, Merkulava E, Siniauskaya M, Olejnik O, Levaya-Smaliak A, Kushniarevich A, Shymkevich A, Davydenko O.

PLoS One. 2012;7(5):e36354. doi: 10.1371/journal.pone.0036354. Epub 2012 May 2.

12.

Prevalence of GJB2 (connexin-26) and GJB6 (connexin-30) mutations in a cohort of 300 Brazilian hearing-impaired individuals: implications for diagnosis and genetic counseling.

Batissoco AC, Abreu-Silva RS, Braga MC, Lezirovitz K, Della-Rosa V, Alfredo T Jr, Otto PA, Mingroni-Netto RC.

Ear Hear. 2009 Feb;30(1):1-7. doi: 10.1097/AUD.0b013e31819144ad.

PMID:
19125024
13.

[Hearing loss may be associated with the novel mitochondrial tRNA(Asp) A7551G mutation in a Chinese family].

Wu Y, Liang LZ, Xiao HL, Yang YL, Yu X, Zheng J, Fang F, Zheng BJ, Tang XW, Jin LJ, Guan MX.

Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2013 Dec;48(12):978-84. Chinese.

PMID:
24506995
14.

High frequency of 35delG GJB2 mutation and absence of del(GJB6-D13S1830) in Greek Cypriot patients with nonsyndromic hearing loss.

Neocleous V, Aspris A, Shahpenterian V, Nicolaou V, Panagi C, Ioannou I, Kyamides Y, Anastasiadou V, Phylactou LA.

Genet Test. 2006 Winter;10(4):285-9.

PMID:
17253936
15.

Maternally inherited hearing loss is associated with the novel mitochondrial tRNA Ser(UCN) 7505T>C mutation in a Han Chinese family.

Tang X, Li R, Zheng J, Cai Q, Zhang T, Gong S, Zheng W, He X, Zhu Y, Xue L, Yang A, Yang L, Lu J, Guan MX.

Mol Genet Metab. 2010 May;100(1):57-64. doi: 10.1016/j.ymgme.2010.01.008. Epub 2010 Jan 25.

PMID:
20153673
16.

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
17.

Maternally inherited non-syndromic hearing loss associated with mitochondrial 12S rRNA A827G mutation in a Chinese family.

Xing G, Chen Z, Wei Q, Tian H, Li X, Zhou A, Bu X, Cao X.

Biochem Biophys Res Commun. 2006 Jun 16;344(4):1253-7. Epub 2006 May 2.

PMID:
16650816
18.

GJB2 and mitochondrial A1555G gene mutations in nonsyndromic profound hearing loss and carrier frequencies in healthy individuals.

Baysal E, Bayazit YA, Ceylaner S, Alatas N, Donmez B, Ceylaner G, San I, Korkmaz B, Yilmaz A, Menevse A, Altunyay S, Gunduz B, Goksu N, Arslan A, Ekmekci A.

J Genet. 2008 Apr;87(1):53-7.

19.

Mutations in GJB2, GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment.

Samanich J, Lowes C, Burk R, Shanske S, Lu J, Shanske A, Morrow BE.

Am J Med Genet A. 2007 Apr 15;143A(8):830-8.

PMID:
17357124
20.

Prevalence of DFNB1 mutations in Argentinean children with non-syndromic deafness. Report of a novel mutation in GJB2.

Gravina LP, Foncuberta ME, Prieto ME, Garrido J, Barreiro C, Chertkoff L.

Int J Pediatr Otorhinolaryngol. 2010 Mar;74(3):250-4. doi: 10.1016/j.ijporl.2009.11.014. Epub 2009 Dec 22.

PMID:
20022641

Supplemental Content

Support Center