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Results: 1 to 20 of 98

1.

Prelingual siblings of children with GJB2 hearing loss: issues to consider.

Palmer CG, Martinez A, Sininger Y, Shapiro N, Grody WW, Schimmenti LA.

Arch Otolaryngol Head Neck Surg. 2005 Nov;131(11):1020-2. No abstract available.

PMID:
16301377
[PubMed - indexed for MEDLINE]
2.

Does universal newborn hearing screening identify all children with GJB2 (Connexin 26) deafness? Penetrance of GJB2 deafness.

Norris VW, Arnos KS, Hanks WD, Xia X, Nance WE, Pandya A.

Ear Hear. 2006 Dec;27(6):732-41.

PMID:
17086082
[PubMed - indexed for MEDLINE]
3.

[Genetic analysis of GJB2 in a Chinese family with nonsyndromic hearing impairment].

Zhu QH, Li H, Liu P, Zhu ZF, Wang X, Yuan WL, Liu JY, Mao HY, Wang Q, Liu MG.

Yi Chuan. 2007 Feb;29(2):172-6. Chinese.

PMID:
17369171
[PubMed - indexed for MEDLINE]
4.

GJB2 gene mutations in Slovak hearing-impaired patients of Caucasian origin: spectrum, frequencies and SNP analysis.

Minarik G, Ferakova E, Ficek A, Polakova H, Kadasi L.

Clin Genet. 2005 Dec;68(6):554-7. No abstract available.

PMID:
16283888
[PubMed - indexed for MEDLINE]
5.

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
[PubMed - indexed for MEDLINE]
6.

[Analysis of genetic mutation in patients with nonsyndromic hearing loss received cochlear implant].

Tian YS, Chen XW, Cao KL, Chen DY, Zuo J, Fang FD.

Zhonghua Yi Xue Za Zhi. 2007 Apr 24;87(16):1093-6. Chinese.

PMID:
17672987
[PubMed - indexed for MEDLINE]
7.

Genotype-phenotype correlation of two prevalent GJB2 mutations in Chinese newborn infants ascertained from the Universal Newborn Hearing Screening Program.

Ma Y, Yang T, Li Y, Tao Z, Huang Z, Li X, Chai Y, Ouyang Z, Shen X, Wu H.

Am J Med Genet A. 2010 Nov;152A(11):2912-5. doi: 10.1002/ajmg.a.33698. No abstract available.

PMID:
20954238
[PubMed - indexed for MEDLINE]
8.

[GJB2 gene mutation in deaf patients].

Xu ZY, Gao GF, Liu C, Hu YH, Lin Y, Zhang RZ, Liu M, Wang SY.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Apr;26(2):144-6. doi: 10.3760/cma.j.issn.1003-9406.2009.02.005. Chinese.

PMID:
19350503
[PubMed - indexed for MEDLINE]
9.

[The roles of connexin genes in sporadic hearing loss population].

Li QZ, Wang QJ, Chi FL, Li LN, Zhao YL, Yuan H, Han DY.

Zhonghua Yi Xue Za Zhi. 2007 Apr 24;87(16):1097-101. Chinese.

PMID:
17672988
[PubMed - indexed for MEDLINE]
10.

The GJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafness.

Feldmann D, Denoyelle F, Blons H, Lyonnet S, Loundon N, Rouillon I, Hadj-Rabia S, Petit C, Couderc R, Garabédian EN, Marlin S.

Am J Med Genet A. 2005 Aug 30;137(2):225-7. No abstract available.

PMID:
16059934
[PubMed - indexed for MEDLINE]
11.

[Genetic counseling and intervention for families with deaf-mute patients based on genetic testing: analysis of 5 families].

Dai P, Han B, Yuan YY, Jin ZC, Wang Y, Xiang Y, Yu F, Liu X, Wang GJ, Kang DY, Zhang X, Li M, Zhai SQ, Huang DL, Han DY.

Zhonghua Yi Xue Za Zhi. 2007 Apr 24;87(16):1088-92. Chinese.

PMID:
17672986
[PubMed - indexed for MEDLINE]
12.

The p.V37I exclusive genotype of GJB2: a genetic risk-indicator of postnatal permanent childhood hearing impairment.

Li L, Lu J, Tao Z, Huang Q, Chai Y, Li X, Huang Z, Li Y, Xiang M, Yang J, Yao G, Wang Y, Yang T, Wu H.

PLoS One. 2012;7(5):e36621. doi: 10.1371/journal.pone.0036621. Epub 2012 May 4.

PMID:
22574200
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

[Mutation of GJB2 gene in nonsyndromic hearing impairment patients: analysis of 1190 cases].

Yu F, Han DY, Dai P, Kang DY, Zhang X, Liu X, Zhu QW, Yuan YY, Sun Q, Xue DD, Li M, Liu J, Yuan HJ, Yang WY.

Zhonghua Yi Xue Za Zhi. 2007 Oct 30;87(40):2814-9. Chinese.

PMID:
18167282
[PubMed - indexed for MEDLINE]
14.

Effects of GJB2 genotypes on the audiological phenotype: variability is present for all genotypes.

Hişmi BO, Yilmaz ST, Incesulu A, Tekin M.

Int J Pediatr Otorhinolaryngol. 2006 Oct;70(10):1687-94. Epub 2006 May 19.

PMID:
16712961
[PubMed - indexed for MEDLINE]
15.

[The mutation 35delG of the gene of the connexin 26 is a frequent cause of autosomal-recessive non-syndromic hearing loss in Morocco].

Ratbi I, Hajji S, Ouldim K, Aboussair N, Feldmann D, Sefiani A.

Arch Pediatr. 2007 May;14(5):450-3. Epub 2007 Jan 16. French.

PMID:
17229560
[PubMed - indexed for MEDLINE]
16.

GJB2 mutations and degree of hearing loss: a multicenter study.

Snoeckx RL, Huygen PL, Feldmann D, Marlin S, Denoyelle F, Waligora J, Mueller-Malesinska M, Pollak A, Ploski R, Murgia A, Orzan E, Castorina P, Ambrosetti U, Nowakowska-Szyrwinska E, Bal J, Wiszniewski W, Janecke AR, Nekahm-Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, Rehm HL, Tekin M, Incesulu A, Dahl HH, du Sart D, Jenkins L, Lucas D, Bitner-Glindzicz M, Avraham KB, Brownstein Z, del Castillo I, Moreno F, Blin N, Pfister M, Sziklai I, Toth T, Kelley PM, Cohn ES, Van Maldergem L, Hilbert P, Roux AF, Mondain M, Hoefsloot LH, Cremers CW, Löppönen T, Löppönen H, Parving A, Gronskov K, Schrijver I, Roberson J, Gualandi F, Martini A, Lina-Granade G, Pallares-Ruiz N, Correia C, Fialho G, Cryns K, Hilgert N, Van de Heyning P, Nishimura CJ, Smith RJ, Van Camp G.

Am J Hum Genet. 2005 Dec;77(6):945-57. Epub 2005 Oct 19.

PMID:
16380907
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

[Prospects for genetic hearing loss screening: 35delG mutation tracking in a newborn population].

Piatto VB, Oliveira CA, Alexandrino F, Pimpinati CJ, Sartorato EL.

J Pediatr (Rio J). 2005 Mar-Apr;81(2):139-42. Portuguese.

PMID:
15858675
[PubMed - indexed for MEDLINE]
Free Article
18.

The use of genetic testing in the evaluation of hearing impairment in a child.

Robin NH, Prucka SK, Woolley AL, Smith RJ.

Curr Opin Pediatr. 2005 Dec;17(6):709-12. Review.

PMID:
16282775
[PubMed - indexed for MEDLINE]
19.

Detection of the 35delG/GJB2 and del(GJB6-D13S1830) mutations in Venezuelan patients with autosomal recessive nonsyndromic hearing loss.

Utrera R, Ridaura V, Rodríguez Y, Rojas MJ, Mago L, Angeli S, Henríquez O.

Genet Test. 2007 Winter;11(4):347-52. doi: 10.1089/gte.2006.0526.

PMID:
18294049
[PubMed - indexed for MEDLINE]
20.

Sudden hearing loss in a family with GJB2 related progressive deafness.

Kokotas H, Theodosiou M, Korres G, Grigoriadou M, Ferekidou E, Giannoulia-Karantana A, Petersen MB, Korres S.

Int J Pediatr Otorhinolaryngol. 2008 Nov;72(11):1735-40. doi: 10.1016/j.ijporl.2008.08.006. Epub 2008 Sep 21.

PMID:
18809215
[PubMed - indexed for MEDLINE]

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