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Items: 1 to 20 of 92

1.

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.

2.

Newborn dried blood-spot screening of the p.V37I variant of GJB2 by high-resolution melting analysis.

Chen Y, Li L, Sun LH, Yang T, Wu H.

Int J Pediatr Otorhinolaryngol. 2014 Jul;78(7):1080-3. doi: 10.1016/j.ijporl.2014.04.009. Epub 2014 Apr 16.

PMID:
24814571
3.

A genotype-phenotype correlation for GJB2 (connexin 26) deafness.

Cryns K, Orzan E, Murgia A, Huygen PL, Moreno F, del Castillo I, Chamberlin GP, Azaiez H, Prasad S, Cucci RA, Leonardi E, Snoeckx RL, Govaerts PJ, Van de Heyning PH, Van de Heyning CM, Smith RJ, Van Camp G.

J Med Genet. 2004 Mar;41(3):147-54.

4.

GJB2-associated hearing loss undetected by hearing screening of newborns.

Minami SB, Mutai H, Nakano A, Arimoto Y, Taiji H, Morimoto N, Sakata H, Adachi N, Masuda S, Sakamoto H, Yoshida H, Tanaka F, Morita N, Sugiuchi T, Kaga K, Matsunaga T.

Gene. 2013 Dec 10;532(1):41-5. doi: 10.1016/j.gene.2013.08.094. Epub 2013 Sep 6.

PMID:
24013081
5.

Homozygosity for the V37I GJB2 mutation in fifteen probands with mild to moderate sensorineural hearing impairment: further confirmation of pathogenicity and haplotype analysis in Asian populations.

Gallant E, Francey L, Tsai EA, Berman M, Zhao Y, Fetting H, Kaur M, Deardorff MA, Wilkens A, Clark D, Hakonarson H, Rehm HL, Krantz ID.

Am J Med Genet A. 2013 Sep;161A(9):2148-57. doi: 10.1002/ajmg.a.36042. Epub 2013 Jul 19.

6.

Clinical features of patients with GJB2 (connexin 26) mutations: severity of hearing loss is correlated with genotypes and protein expression patterns.

Oguchi T, Ohtsuka A, Hashimoto S, Oshima A, Abe S, Kobayashi Y, Nagai K, Matsunaga T, Iwasaki S, Nakagawa T, Usami S.

J Hum Genet. 2005;50(2):76-83. Epub 2005 Feb 8.

PMID:
15700112
7.

The Relationship between the p.V37I Mutation in GJB2 and Hearing Phenotypes in Chinese Individuals.

Huang S, Huang B, Wang G, Yuan Y, Dai P.

PLoS One. 2015 Jun 10;10(6):e0129662. doi: 10.1371/journal.pone.0129662. eCollection 2015.

8.

Evaluation of newborn screening bloodspot-based genetic testing as second tier screen for bedside newborn hearing screening.

Schimmenti LA, Warman B, Schleiss MR, Daly KA, Ross JA, McCann M, Jurek AM, Berry SA.

Genet Med. 2011 Dec;13(12):1006-10. doi: 10.1097/GIM.0b013e318226fc2e.

PMID:
21912263
9.

Connexin-26-associated deafness: phenotypic variability and progression of hearing loss.

Chan DK, Schrijver I, Chang KW.

Genet Med. 2010 Mar;12(3):174-81. doi: 10.1097/GIM.0b013e3181d0d42b.

PMID:
20154630
10.

[The mutation spectrum of the GJB2 gene in Belarussian patients with hearing loss. Results of pilot genetic screening of hearing impairment in newborns].

Bliznets EA, Marcul' DN, Khorov OG, Markova TG, Poliakov AV.

Genetika. 2014 Feb;50(2):214-21. Russian.

PMID:
25711030
11.

The homozygous p.V37I variant of GJB2 is associated with diverse hearing phenotypes.

Chai Y, Chen D, Sun L, Li L, Chen Y, Pang X, Zhang L, Wu H, Yang T.

Clin Genet. 2015 Apr;87(4):350-5. doi: 10.1111/cge.12387. Epub 2014 Apr 12.

PMID:
24654934
12.

The contribution of GJB2 mutations to slight or mild hearing loss in Australian elementary school children.

Dahl HH, Tobin SE, Poulakis Z, Rickards FW, Xu X, Gillam L, Williams J, Saunders K, Cone-Wesson B, Wake M.

J Med Genet. 2006 Nov;43(11):850-5. Epub 2006 Jul 13.

13.

M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance.

Pollak A, Skórka A, Mueller-Malesińska M, Kostrzewa G, Kisiel B, Waligóra J, Krajewski P, Ołdak M, Korniszewski L, Skarzyński H, Ploski R.

Am J Med Genet A. 2007 Nov 1;143A(21):2534-43.

PMID:
17935238
14.

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
15.

Prevalence of p.V37I variant of GJB2 in mild or moderate hearing loss in a pediatric population and the interpretation of its pathogenicity.

Kim SY, Park G, Han KH, Kim A, Koo JW, Chang SO, Oh SH, Park WY, Choi BY.

PLoS One. 2013 Apr 25;8(4):e61592. doi: 10.1371/journal.pone.0061592. Print 2013.

16.

GJB2-associated hearing loss: systematic review of worldwide prevalence, genotype, and auditory phenotype.

Chan DK, Chang KW.

Laryngoscope. 2014 Feb;124(2):E34-53. doi: 10.1002/lary.24332. Epub 2013 Oct 8. Review.

PMID:
23900770
17.

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.

18.

Newborn genetic screening for hearing impairment: a preliminary study at a tertiary center.

Wu CC, Hung CC, Lin SY, Hsieh WS, Tsao PN, Lee CN, Su YN, Hsu CJ.

PLoS One. 2011;6(7):e22314. doi: 10.1371/journal.pone.0022314. Epub 2011 Jul 19.

19.

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
20.

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

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