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Items: 1 to 20 of 41

1.

Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.

Sloan-Heggen CM, Bierer AO, Shearer AE, Kolbe DL, Nishimura CJ, Frees KL, Ephraim SS, Shibata SB, Booth KT, Campbell CA, Ranum PT, Weaver AE, Black-Ziegelbein EA, Wang D, Azaiez H, Smith RJ.

Hum Genet. 2016 Apr;135(4):441-50. doi: 10.1007/s00439-016-1648-8. Epub 2016 Mar 11.

2.

Sensorineural Hearing Loss: A Changing Paradigm for Its Evaluation.

Jayawardena AD, Shearer AE, Smith RJ.

Otolaryngol Head Neck Surg. 2015 Nov;153(5):843-50. doi: 10.1177/0194599815596727. Epub 2015 Jul 27.

3.

Massively Parallel Sequencing for Genetic Diagnosis of Hearing Loss: The New Standard of Care.

Shearer AE, Smith RJ.

Otolaryngol Head Neck Surg. 2015 Aug;153(2):175-82. doi: 10.1177/0194599815591156. Epub 2015 Jun 17. Review.

4.

Common molecular etiology of nonsyndromic hearing loss in 484 patients of 3 ethnicities in northwest China.

Duan SH, Zhu YM, Wang YL, Guo YF.

Acta Otolaryngol. 2015 Jun;135(6):586-91. doi: 10.3109/00016489.2015.1006334. Epub 2015 Mar 11.

PMID:
25761933
5.

Phenotypic variability in gap junction syndromic skin disorders: experience from KID and Clouston syndromes' clinical diagnostics.

Kutkowska-Kaźmierczak A, Niepokój K, Wertheim-Tysarowska K, Giza A, Mordasewicz-Goliszewska M, Bal J, Obersztyn E.

J Appl Genet. 2015 Aug;56(3):329-37. doi: 10.1007/s13353-014-0266-1. Epub 2015 Jan 10.

6.

Copy number variants are a common cause of non-syndromic hearing loss.

Shearer AE, Kolbe DL, Azaiez H, Sloan CM, Frees KL, Weaver AE, Clark ET, Nishimura CJ, Black-Ziegelbein EA, Smith RJ.

Genome Med. 2014 May 22;6(5):37. doi: 10.1186/gm554. eCollection 2014.

7.

The spectrum of GJB2 mutations in the Iranian population with non-syndromic hearing loss--a twelve year study.

Bazazzadegan N, Nikzat N, Fattahi Z, Nishimura C, Meyer N, Sahraian S, Jamali P, Babanejad M, Kashef A, Yazdan H, Sabbagh Kermani F, Taghdiri M, Azadeh B, Mojahedi F, Khoshaeen A, Habibi H, Reyhanifar F, Nouri N, Smith RJ, Kahrizi K, Najmabadi H.

Int J Pediatr Otorhinolaryngol. 2012 Aug;76(8):1164-74. doi: 10.1016/j.ijporl.2012.04.026. Epub 2012 Jun 12.

PMID:
22695344
8.

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.

9.

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
10.

Phenotype/genotype correlations in a DFNB1 cohort with ethnical diversity.

Angeli SI.

Laryngoscope. 2008 Nov;118(11):2014-23. doi: 10.1097/MLG.0b013e31817fb7ad.

PMID:
18758381
11.

Genotype-phenotype correlations for SLC26A4-related deafness.

Azaiez H, Yang T, Prasad S, Sorensen JL, Nishimura CJ, Kimberling WJ, Smith RJ.

Hum Genet. 2007 Dec;122(5):451-7. Epub 2007 Aug 10.

PMID:
17690912
12.

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
13.

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
14.

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.

15.

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.

16.

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.

17.

Sensorineural hearing loss in children.

Smith RJ, Bale JF Jr, White KR.

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

PMID:
15752533
18.

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
19.

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.

20.

Connexin-30 deletion analysis in connexin-26 heterozygotes.

Stevenson VA, Ito M, Milunsky JM.

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

PMID:
12885339
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