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Results: 1 to 20 of 56

PubMed Links for Books (Select 1495302)

1.

A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression.

Wilch E, Azaiez H, Fisher RA, Elfenbein J, Murgia A, Birkenhäger R, Bolz H, Da Silva-Costa SM, Del Castillo I, Haaf T, Hoefsloot L, Kremer H, Kubisch C, Le Marechal C, Pandya A, Sartorato EL, Schneider E, Van Camp G, Wuyts W, Smith RJ, Friderici KH.

Clin Genet. 2010 Sep;78(3):267-74. doi: 10.1111/j.1399-0004.2010.01387.x. Epub 2010 Mar 1.

2.

A new large deletion in the DFNB1 locus causes nonsyndromic hearing loss.

Feldmann D, Le Maréchal C, Jonard L, Thierry P, Czajka C, Couderc R, Ferec C, Denoyelle F, Marlin S, Fellmann F.

Eur J Med Genet. 2009 Jul-Aug;52(4):195-200. doi: 10.1016/j.ejmg.2008.11.006. Epub 2008 Dec 13.

PMID:
19101659
3.

Connexin 26 deafness is not always congenital.

Orzan E, Murgia A.

Int J Pediatr Otorhinolaryngol. 2007 Mar;71(3):501-7. Epub 2007 Jan 11.

PMID:
17222463
4.

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
5.

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.

6.

A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment.

del Castillo FJ, Rodríguez-Ballesteros M, Alvarez A, Hutchin T, Leonardi E, de Oliveira CA, Azaiez H, Brownstein Z, Avenarius MR, Marlin S, Pandya A, Shahin H, Siemering KR, Weil D, Wuyts W, Aguirre LA, Martín Y, Moreno-Pelayo MA, Villamar M, Avraham KB, Dahl HH, Kanaan M, Nance WE, Petit C, Smith RJ, Van Camp G, Sartorato EL, Murgia A, Moreno F, del Castillo I.

J Med Genet. 2005 Jul;42(7):588-94. No abstract available.

7.

First molecular screening of deafness in the Altai Republic population.

Posukh O, Pallares-Ruiz N, Tadinova V, Osipova L, Claustres M, Roux AF.

BMC Med Genet. 2005 Mar 24;6:12.

8.

Sensorineural hearing loss in children.

Smith RJ, Bale JF Jr, White KR.

Lancet. 2005 Mar 5-11;365(9462):879-90. Review.

PMID:
15752533
9.

GJB2 mutations: passage through Iran.

Najmabadi H, Nishimura C, Kahrizi K, Riazalhosseini Y, Malekpour M, Daneshi A, Farhadi M, Mohseni M, Mahdieh N, Ebrahimi A, Bazazzadegan N, Naghavi A, Avenarius M, Arzhangi S, Smith RJ.

Am J Med Genet A. 2005 Mar 1;133A(2):132-7.

PMID:
15666300
10.

High prevalence of V37I genetic variant in the connexin-26 (GJB2) gene among non-syndromic hearing-impaired and control Thai individuals.

Wattanasirichaigoon D, Limwongse C, Jariengprasert C, Yenchitsomanus PT, Tocharoenthanaphol C, Thongnoppakhun W, Thawil C, Charoenpipop D, Pho-iam T, Thongpradit S, Duggal P.

Clin Genet. 2004 Nov;66(5):452-60.

PMID:
15479191
11.

GJB2: the spectrum of deafness-causing allele variants and their phenotype.

Azaiez H, Chamberlin GP, Fischer SM, Welp CL, Prasad SD, Taggart RT, del Castillo I, Van Camp G, Smith RJ.

Hum Mutat. 2004 Oct;24(4):305-11.

PMID:
15365987
12.

The frequency of GJB2 mutations and the Delta (GJB6-D13S1830) deletion as a cause of autosomal recessive non-syndromic deafness in the Kurdish population.

Mahdieh N, Nishimura C, Ali-Madadi K, Riazalhosseini Y, Yazdan H, Arzhangi S, Jalalvand K, Ebrahimi A, Kazemi S, Smith RJ, Najmabadi H.

Clin Genet. 2004 Jun;65(6):506-8. No abstract available.

PMID:
15151513
13.

Aberrant gating, but a normal expression pattern, underlies the recessive phenotype of the deafness mutant Connexin26M34T.

Skerrett IM, Di WL, Kasperek EM, Kelsell DP, Nicholson BJ.

FASEB J. 2004 May;18(7):860-2. Epub 2004 Mar 19.

14.

Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study.

Del Castillo I, Moreno-Pelayo MA, Del Castillo FJ, Brownstein Z, Marlin S, Adina Q, Cockburn DJ, Pandya A, Siemering KR, Chamberlin GP, Ballana E, Wuyts W, Maciel-Guerra AT, Alvarez A, Villamar M, Shohat M, Abeliovich D, Dahl HH, Estivill X, Gasparini P, Hutchin T, Nance WE, Sartorato EL, Smith RJ, Van Camp G, Avraham KB, Petit C, Moreno F.

Am J Hum Genet. 2003 Dec;73(6):1452-8. Epub 2003 Oct 21.

15.

Connexin-30 deletion analysis in connexin-26 heterozygotes.

Stevenson VA, Ito M, Milunsky JM.

Genet Test. 2003 Summer;7(2):151-4.

PMID:
12885339
16.

Mutation spectrum of the connexin 26 (GJB2) gene in Taiwanese patients with prelingual deafness.

Hwa HL, Ko TM, Hsu CJ, Huang CH, Chiang YL, Oong JL, Chen CC, Hsu CK.

Genet Med. 2003 May-Jun;5(3):161-5.

PMID:
12792423
17.

Connexin 26 35delG does not represent a mutational hotspot.

Rothrock CR, Murgia A, Sartorato EL, Leonardi E, Wei S, Lebeis SL, Yu LE, Elfenbein JL, Fisher RA, Friderici KH.

Hum Genet. 2003 Jul;113(1):18-23. Epub 2003 Apr 9.

PMID:
12684873
18.

The prevalence of connexin 26 ( GJB2) mutations in the Chinese population.

Liu XZ, Xia XJ, Ke XM, Ouyang XM, Du LL, Liu YH, Angeli S, Telischi FF, Nance WE, Balkany T, Xu LR.

Hum Genet. 2002 Oct;111(4-5):394-7. Epub 2002 Aug 16.

PMID:
12384781
19.

Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing.

Wu BL, Lindeman N, Lip V, Adams A, Amato RS, Cox G, Irons M, Kenna M, Korf B, Raisen J, Platt O.

Genet Med. 2002 Jul-Aug;4(4):279-88.

PMID:
12172394
20.

GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review.

Kenneson A, Van Naarden Braun K, Boyle C.

Genet Med. 2002 Jul-Aug;4(4):258-74. Review.

PMID:
12172392
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