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Results: 1 to 20 of 543

1.

Non-syndromic, autosomal-recessive deafness.

Petersen MB, Willems PJ.

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

PMID:
16650073
[PubMed - indexed for MEDLINE]
2.

Non-syndromic autosomal-dominant deafness.

Petersen MB.

Clin Genet. 2002 Jul;62(1):1-13. Review.

PMID:
12123480
[PubMed - indexed for MEDLINE]
3.

[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
[PubMed - indexed for MEDLINE]
4.

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
[PubMed - indexed for MEDLINE]
5.

Absence of GJB3 and GJB6 mutations in Moroccan familial and sporadic patients with autosomal recessive non-syndromic deafness.

Nahili H, Ridal M, Boulouiz R, Abidi O, Imken L, Rouba H, Alami MN, Chafik A, Hassar M, Barakat A.

Int J Pediatr Otorhinolaryngol. 2008 Nov;72(11):1633-6. doi: 10.1016/j.ijporl.2008.07.015. Epub 2008 Sep 21.

PMID:
18809214
[PubMed - indexed for MEDLINE]
6.

Hereditary deafness and phenotyping in humans.

Bitner-Glindzicz M.

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

PMID:
12324385
[PubMed - indexed for MEDLINE]
7.

The genetics of deafness.

Nance WE.

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

PMID:
12784229
[PubMed - indexed for MEDLINE]
8.

A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?

Pallares-Ruiz N, Blanchet P, Mondain M, Claustres M, Roux AF.

Eur J Hum Genet. 2002 Jan;10(1):72-6.

PMID:
11896458
[PubMed - indexed for MEDLINE]
Free Article
9.

GJB2 mutations in Iranians with autosomal recessive non-syndromic sensorineural hearing loss.

Najmabadi H, Cucci RA, Sahebjam S, Kouchakian N, Farhadi M, Kahrizi K, Arzhangi S, Daneshmandan N, Javan K, Smith RJ.

Hum Mutat. 2002 May;19(5):572.

PMID:
11968091
[PubMed - indexed for MEDLINE]
10.
11.

Molecular screening of deafness in Algeria: high genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1F.

Ammar-Khodja F, Faugère V, Baux D, Giannesini C, Léonard S, Makrelouf M, Malek R, Djennaoui D, Zenati A, Claustres M, Roux AF.

Eur J Med Genet. 2009 Jul-Aug;52(4):174-9. doi: 10.1016/j.ejmg.2009.03.018. Epub 2009 Apr 16.

PMID:
19375528
[PubMed - indexed for MEDLINE]
12.

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
[PubMed - indexed for MEDLINE]
13.

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
[PubMed - indexed for MEDLINE]
14.

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
[PubMed - indexed for MEDLINE]
15.

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
[PubMed - indexed for MEDLINE]
16.

A novel dominant missense mutation--D179N--in the GJB2 gene (Connexin 26) associated with non-syndromic hearing loss.

Primignani P, Castorina P, Sironi F, Curcio C, Ambrosetti U, Coviello DA.

Clin Genet. 2003 Jun;63(6):516-21.

PMID:
12786758
[PubMed - indexed for MEDLINE]
17.

Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11.

Hilgert N, Alasti F, Dieltjens N, Pawlik B, Wollnik B, Uyguner O, Delmaghani S, Weil D, Petit C, Danis E, Yang T, Pandelia E, Petersen MB, Goossens D, Favero JD, Sanati MH, Smith RJ, Van Camp G.

Clin Genet. 2008 Sep;74(3):223-32. doi: 10.1111/j.1399-0004.2008.01053.x. Epub 2008 Jul 9.

PMID:
18616530
[PubMed - indexed for MEDLINE]
18.

Frequency of the 35delG allele causing nonsyndromic recessive deafness in the Algerian patients.

Ammar-Khodja F, Makrelouf M, Malek R, Ibrahim H, Zenati A.

Genet Couns. 2007;18(4):383-91.

PMID:
18286819
[PubMed - indexed for MEDLINE]
19.

[The principles of molecular diagnosis of recessive forms of prelingual non-syndromic hearing loss].

Wiszniewska J, Wiszniewski W, Bal J.

Med Wieku Rozwoj. 2002 Oct-Dec;6(4):309-18. Polish.

PMID:
12810983
[PubMed - indexed for MEDLINE]
20.

Three novel connexin26 gene mutations in autosomal recessive non-syndromic deafness.

Fuse Y, Doi K, Hasegawa T, Sugii A, Hibino H, Kubo T.

Neuroreport. 1999 Jun 23;10(9):1853-7.

PMID:
10501520
[PubMed - indexed for MEDLINE]

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