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Results: 1 to 20 of 1048

1.

The genetics of deafness.

Nance WE.

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

PMID:
12784229
[PubMed - indexed for MEDLINE]
2.

[Genetic deafness].

Marcolla A, Bouchetemble P, Lerosey Y, Marie JP, Dehesdin D.

Ann Otolaryngol Chir Cervicofac. 2006 Jun;123(3):143-7. Review. French.

PMID:
16840903
[PubMed - indexed for MEDLINE]
3.

Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands.

Pandya A, Arnos KS, Xia XJ, Welch KO, Blanton SH, Friedman TB, Garcia Sanchez G, Liu MD XZ, Morell R, Nance WE.

Genet Med. 2003 Jul-Aug;5(4):295-303.

PMID:
12865758
[PubMed - indexed for MEDLINE]
4.

Genetics of hearing impairment.

Hone SW, Smith RJ.

Semin Neonatol. 2001 Dec;6(6):531-41. Review.

PMID:
12014894
[PubMed - indexed for MEDLINE]
5.

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]
6.

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]
7.

Hereditary deafness and phenotyping in humans.

Bitner-Glindzicz M.

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

PMID:
12324385
[PubMed - indexed for MEDLINE]
8.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970
[PubMed - indexed for MEDLINE]
9.

The genetic bases for non-syndromic hearing loss among Chinese.

Ouyang XM, Yan D, Yuan HJ, Pu D, Du LL, Han DY, Liu XZ.

J Hum Genet. 2009 Mar;54(3):131-40. doi: 10.1038/jhg.2009.4. Epub 2009 Feb 6. Review.

PMID:
19197336
[PubMed - indexed for MEDLINE]
10.

Genetic testing for hereditary hearing loss: connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA).

Prasad S, Cucci RA, Green GE, Smith RJ.

Hum Mutat. 2000 Dec;16(6):502-8.

PMID:
11102979
[PubMed - indexed for MEDLINE]
11.

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]
12.

Genetic counseling of the deaf. Medical and cultural considerations.

Arnos KS, Israel J, Cunningham M.

Ann N Y Acad Sci. 1991;630:212-22. Review.

PMID:
1952592
[PubMed - indexed for MEDLINE]
13.

[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]
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.

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]
16.

High incidence of profound deafness in an isolated community.

Zlotogora J, Barges S.

Genet Test. 2003 Summer;7(2):143-5.

PMID:
12885337
[PubMed - indexed for MEDLINE]
17.

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]
18.

Non-syndromic, autosomal-recessive deafness.

Petersen MB, Willems PJ.

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

PMID:
16650073
[PubMed - indexed for MEDLINE]
19.

Connexin 26 gene mutations in congenitally deaf children: pitfalls for genetic counseling.

Marlin S, Garabédian EN, Roger G, Moatti L, Matha N, Lewin P, Petit C, Denoyelle F.

Arch Otolaryngol Head Neck Surg. 2001 Aug;127(8):927-33.

PMID:
11493200
[PubMed - indexed for MEDLINE]
20.

[Hereditary sensorineural deafness].

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

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

PMID:
10737085
[PubMed - indexed for MEDLINE]

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