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Items: 1 to 20 of 258

1.

Hereditary deafness and phenotyping in humans.

Bitner-Glindzicz M.

Br Med Bull. 2002;63:73-94. Review.

PMID:
12324385
2.

[Non-syndromic hereditary hearing impairment].

Birkenhäger R, Aschendorff A, Schipper J, Laszig R.

Laryngorhinootologie. 2007 Apr;86(4):299-309; quiz 310-3. Review. German.

PMID:
17407011
3.

The genetics of deafness.

Nance WE.

Ment Retard Dev Disabil Res Rev. 2003;9(2):109-19. Review.

PMID:
12784229
4.

A gene for a dominant form of non-syndromic sensorineural deafness (DFNA11) maps within the region containing the DFNB2 recessive deafness gene.

Tamagawa Y, Kitamura K, Ishida T, Ishikawa K, Tanaka H, Tsuji S, Nishizawa M.

Hum Mol Genet. 1996 Jun;5(6):849-52.

PMID:
8776602
5.

Genetic analysis of TMPRSS3 gene in the Korean population with autosomal recessive nonsyndromic hearing loss.

Lee J, Baek JI, Choi JY, Kim UK, Lee SH, Lee KY.

Gene. 2013 Dec 15;532(2):276-80. doi: 10.1016/j.gene.2013.07.108. Epub 2013 Aug 17.

PMID:
23958653
6.

Deafness genes.

Kitamura K, Takahashi K, Tamagawa Y, Noguchi Y, Kuroishikawa Y, Ishikawa K, Hagiwara H.

J Med Dent Sci. 2000 Mar;47(1):1-11. Review.

PMID:
12162522
7.

Etiology of unilateral hearing loss in a national hereditary deafness repository.

Dodson KM, Georgolios A, Barr N, Nguyen B, Sismanis A, Arnos KS, Norris VW, Chapman D, Nance WE, Pandya A.

Am J Otolaryngol. 2012 Sep-Oct;33(5):590-4. doi: 10.1016/j.amjoto.2012.03.005. Epub 2012 Apr 24.

PMID:
22534022
8.

Non-syndromic, autosomal-recessive deafness.

Petersen MB, Willems PJ.

Clin Genet. 2006 May;69(5):371-92. Review.

PMID:
16650073
9.

SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.

Albert S, Blons H, Jonard L, Feldmann D, Chauvin P, Loundon N, Sergent-Allaoui A, Houang M, Joannard A, Schmerber S, Delobel B, Leman J, Journel H, Catros H, Dollfus H, Eliot MM, David A, Calais C, Drouin-Garraud V, Obstoy MF, Tran Ba Huy P, Lacombe D, Duriez F, Francannet C, Bitoun P, Petit C, Garabédian EN, Couderc R, Marlin S, Denoyelle F.

Eur J Hum Genet. 2006 Jun;14(6):773-9.

10.

[Hereditary sensorineural deafness].

Denoyelle F, Marlin S, Petit C, Garabédian EN.

Rev Prat. 2000 Jan 15;50(2):146-9. French.

PMID:
10737085
11.

Molecular studies in the GJB2 gene (Cx26) among a deaf population from Bogotá, Colombia: results of a screening program.

Tamayo ML, Olarte M, Gelvez N, Gómez M, Frías JL, Bernal JE, Florez S, Medina D.

Int J Pediatr Otorhinolaryngol. 2009 Jan;73(1):97-101. doi: 10.1016/j.ijporl.2008.10.001. Epub 2008 Nov 21.

PMID:
19027181
12.

Hair phenotype in non-syndromic deafness.

Volo T, Sathiyaseelan T, Astolfi L, Guaran V, Trevisi P, Emanuelli E, Martini A.

Int J Pediatr Otorhinolaryngol. 2013 Aug;77(8):1280-5. doi: 10.1016/j.ijporl.2013.05.010. Epub 2013 Jun 14.

PMID:
23751281
13.

Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing.

Hutchin T, Coy NN, Conlon H, Telford E, Bromelow K, Blaydon D, Taylor G, Coghill E, Brown S, Trembath R, Liu XZ, Bitner-Glindzicz M, Mueller R.

Clin Genet. 2005 Dec;68(6):506-12.

PMID:
16283880
14.

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.

15.

Connexin 26 mutations in nonsyndromic autosomal recessive hearing loss: speech and hearing rehabilitation.

Mesolella M, Tranchino G, Nardone M, Motta S, Galli V.

Int J Pediatr Otorhinolaryngol. 2004 Aug;68(8):995-1005.

PMID:
15236885
16.

Cx26 deafness: mutation analysis and clinical variability.

Murgia A, Orzan E, Polli R, Martella M, Vinanzi C, Leonardi E, Arslan E, Zacchello F.

J Med Genet. 1999 Nov;36(11):829-32.

17.
18.

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
19.

Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness.

Green GE, Scott DA, McDonald JM, Woodworth GG, Sheffield VC, Smith RJ.

JAMA. 1999 Jun 16;281(23):2211-6.

PMID:
10376574
20.

[The study of GJB2 dominant mutaion distribution in Chinese deafness patient and the analysis of phenotype].

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

Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2014 Nov;28(22):1744-7. Chinese.

PMID:
25752103

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