Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 901

1.

Deafness on the island of Providencia - Colombia: different etiology, different genetic counseling.

Lattig MC, Gelvez N, Plaza SL, Tamayo G, Uribe JI, Salvatierra I, Bernal JE, Tamayo ML.

Genet Couns. 2008;19(4):403-12.

PMID:
19239084
[PubMed - indexed for MEDLINE]
2.

The genetics of deafness.

Nance WE.

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

PMID:
12784229
[PubMed - indexed for MEDLINE]
3.

A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews.

Lerer I, Sagi M, Ben-Neriah Z, Wang T, Levi H, Abeliovich D.

Hum Mutat. 2001 Nov;18(5):460.

PMID:
11668644
[PubMed - indexed for MEDLINE]
4.

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]
5.

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]
6.

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]
7.

Autosomal recessive and sporadic deafness in Morocco: high frequency of the 35delG GJB2 mutation and absence of the 342-kb GJB6 variant.

Gazzaz B, Weil D, Raïs L, Akhyat O, Azeddoug H, Nadifi S.

Hear Res. 2005 Dec;210(1-2):80-4. Epub 2005 Oct 21.

PMID:
16243461
[PubMed - indexed for MEDLINE]
8.

[Mutational analysis of the connexin26 gene in sporadic cases of moderate to profound deafness].

Kupka S, Mirghomizadeh F, Haug T, Braun S, Leistenschneider P, Schmitz-Salue C, Arold R, Blin N, Zenner HP, Pfister M.

HNO. 2000 Sep;48(9):671-4. German.

PMID:
11056855
[PubMed - indexed for MEDLINE]
9.

Screening of families with autosomal recessive non-syndromic hearing impairment (ARNSHI) for mutations in GJB2 gene: Indian scenario.

Maheshwari M, Vijaya R, Ghosh M, Shastri S, Kabra M, Menon PS.

Am J Med Genet A. 2003 Jul 15;120A(2):180-4.

PMID:
12833397
[PubMed - indexed for MEDLINE]
10.

Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling.

Denoyelle F, Marlin S, Weil D, Moatti L, Chauvin P, Garabédian EN, Petit C.

Lancet. 1999 Apr 17;353(9161):1298-303.

PMID:
10218527
[PubMed - indexed for MEDLINE]
11.

Analysis of a cohort of children with sensory hearing loss using the SCALE systematic nomenclature.

Sculerati N.

Laryngoscope. 2000 May;110(5 Pt 1):787-98.

PMID:
10807358
[PubMed - indexed for MEDLINE]
12.

Hereditary deafness and phenotyping in humans.

Bitner-Glindzicz M.

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

PMID:
12324385
[PubMed - indexed for MEDLINE]
13.

Moderate hearing loss and pseudodominant inheritance due to L90P/35delG mutations in the GJB2 (connexin 26) gene.

Tekin M, Duman T, Boğoçlu G, Incesulu A, Cin S, Akar N.

Genet Couns. 2003;14(4):379-86. Review.

PMID:
14738110
[PubMed - indexed for MEDLINE]
14.

GJB2 gene mutations in childhood deafness.

Angeli S, Utrera R, Dib S, Chiossone E, Naranjo C, Henríquez O, Porta M.

Acta Otolaryngol. 2000 Mar;120(2):133-6.

PMID:
11603757
[PubMed - indexed for MEDLINE]
15.

High prevalence of the W24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non-syndromic hearing loss.

Alvarez A, del Castillo I, Villamar M, Aguirre LA, González-Neira A, López-Nevot A, Moreno-Pelayo MA, Moreno F.

Am J Med Genet A. 2005 Sep 1;137A(3):255-8.

PMID:
16088916
[PubMed - indexed for MEDLINE]
16.

Connexin 26 (GJB2) mutations in the Turkish population: implications for the origin and high frequency of the 35delG mutation in Caucasians.

Tekin M, Akar N, Cin S, Blanton SH, Xia XJ, Liu XZ, Nance WE, Pandya A.

Hum Genet. 2001 May;108(5):385-9.

PMID:
11409864
[PubMed - indexed for MEDLINE]
17.

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
[PubMed - indexed for MEDLINE]
18.

[Frequency of the 35delG mutation of the connexin 26 gene (GJB2) in patients with non-syndromic autosome-recessive deafness from Bashkortostan and in ethnic groups of the Volga-Ural region].

Khidiiatova IM, Dzhemileva LU, Khabibulin RM, Khusnutdinova EK.

Mol Biol (Mosk). 2002 May-Jun;36(3):438-41. Russian. No abstract available.

PMID:
12068628
[PubMed - indexed for MEDLINE]
19.

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]
20.

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness.

Kelsell DP, Dunlop J, Stevens HP, Lench NJ, Liang JN, Parry G, Mueller RF, Leigh IM.

Nature. 1997 May 1;387(6628):80-3.

PMID:
9139825
[PubMed - indexed for MEDLINE]

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk