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Results: 1 to 20 of 113

1.

Alpha-tectorin involvement in hearing disabilities: one gene--two phenotypes.

Balciuniene J, Dahl N, Jalonen P, Verhoeven K, Van Camp G, Borg E, Pettersson U, Jazin EE.

Hum Genet. 1999 Sep;105(3):211-6.

PMID:
10987647
[PubMed - indexed for MEDLINE]
2.

Mutation in the zonadhesin-like domain of alpha-tectorin associated with autosomal dominant non-syndromic hearing loss.

Alloisio N, Morlé L, Bozon M, Godet J, Verhoeven K, Van Camp G, Plauchu H, Muller P, Collet L, Lina-Granade G.

Eur J Hum Genet. 1999 Feb-Mar;7(2):255-8.

PMID:
10196713
[PubMed - indexed for MEDLINE]
Free Article
3.

Association of clinical features with mutation of TECTA in a family with autosomal dominant hearing loss.

Iwasaki S, Harada D, Usami S, Nagura M, Takeshita T, Hoshino T.

Arch Otolaryngol Head Neck Surg. 2002 Aug;128(8):913-7.

PMID:
12162770
[PubMed - indexed for MEDLINE]
4.

Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment.

Verhoeven K, Van Laer L, Kirschhofer K, Legan PK, Hughes DC, Schatteman I, Verstreken M, Van Hauwe P, Coucke P, Chen A, Smith RJ, Somers T, Offeciers FE, Van de Heyning P, Richardson GP, Wachtler F, Kimberling WJ, Willems PJ, Govaerts PJ, Van Camp G.

Nat Genet. 1998 May;19(1):60-2. Erratum in: Nat Genet 1999 Apr;21(4):449.

PMID:
9590290
[PubMed - indexed for MEDLINE]
5.

A novel TECTA mutation confirms the recognizable phenotype among autosomal recessive hearing impairment families.

Alasti F, Sanati MH, Behrouzifard AH, Sadeghi A, de Brouwer AP, Kremer H, Smith RJ, Van Camp G.

Int J Pediatr Otorhinolaryngol. 2008 Feb;72(2):249-55. Epub 2007 Nov 19.

PMID:
18022253
[PubMed - indexed for MEDLINE]
6.

A genotype-phenotype correlation with gender-effect for hearing impairment caused by TECTA mutations.

Pfister M, Thiele H, Van Camp G, Fransen E, Apaydin F, Aydin O, Leistenschneider P, Devoto M, Zenner HP, Blin N, Nürnberg P, Ozkarakas H, Kupka S.

Cell Physiol Biochem. 2004;14(4-6):369-76.

PMID:
15319541
[PubMed - indexed for MEDLINE]
7.

Two novel missense mutations in the TECTA gene in Korean families with autosomal dominant nonsyndromic hearing loss.

Sagong B, Park R, Kim YH, Lee KY, Baek JI, Cho HJ, Cho IJ, Kim UK, Lee SH.

Ann Clin Lab Sci. 2010 Fall;40(4):380-5.

PMID:
20947814
[PubMed - indexed for MEDLINE]
8.

Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer.

Collin RW, de Heer AM, Oostrik J, Pauw RJ, Plantinga RF, Huygen PL, Admiraal R, de Brouwer AP, Strom TM, Cremers CW, Kremer H.

Eur J Hum Genet. 2008 Dec;16(12):1430-6. doi: 10.1038/ejhg.2008.110. Epub 2008 Jun 25.

PMID:
18575463
[PubMed - indexed for MEDLINE]
Free Article
9.

An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21.

Mustapha M, Weil D, Chardenoux S, Elias S, El-Zir E, Beckmann JS, Loiselet J, Petit C.

Hum Mol Genet. 1999 Mar;8(3):409-12.

PMID:
9949200
[PubMed - indexed for MEDLINE]
Free Article
10.

Audioprofiling identifies TECTA and GJB2-related deafness segregating in a single extended pedigree.

Meyer NC, Nishimura CJ, McMordie S, Smith RJ.

Clin Genet. 2007 Aug;72(2):130-7.

PMID:
17661817
[PubMed - indexed for MEDLINE]
11.

[From gene to disease; DFNA8/12, an autosomal dominant inherited bowl-shaped sensorineural hearing impairment].

Cremers CW, Plantinga RF, Kremer H.

Ned Tijdschr Geneeskd. 2007 Mar 3;151(9):531-4. Review. Dutch.

PMID:
17373394
[PubMed - indexed for MEDLINE]
12.

Identification of three novel TECTA mutations in Iranian families with autosomal recessive nonsyndromic hearing impairment at the DFNB21 locus.

Meyer NC, Alasti F, Nishimura CJ, Imanirad P, Kahrizi K, Riazalhosseini Y, Malekpour M, Kochakian N, Jamali P, Van Camp G, Smith RJ, Najmabadi H.

Am J Med Genet A. 2007 Jul 15;143A(14):1623-9.

PMID:
17431902
[PubMed - indexed for MEDLINE]
13.

Flat threshold and mid-frequency hearing impairment in a Dutch DFNA8/12 family with a novel mutation in TECTA. Some evidence for protection of the inner ear.

de Heer AR, Pauw RJ, Huygen PL, Collin RW, Kremer H, Cremers CW.

Audiol Neurootol. 2009;14(3):153-62. doi: 10.1159/000171477. Epub 2008 Nov 13.

PMID:
19005249
[PubMed - indexed for MEDLINE]
14.

A cysteine substitution in the zona pellucida domain of alpha-tectorin results in autosomal dominant, postlingual, progressive, mid frequency hearing loss in a Spanish family.

Moreno-Pelayo MA, del Castillo I, Villamar M, Romero L, Hernández-Calvín FJ, Herraiz C, Barberá R, Navas C, Moreno F.

J Med Genet. 2001 May;38(5):E13. No abstract available.

PMID:
11333869
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Identification of a Novel TECTA mutation in a Chinese DFNA8/12 family with prelingual progressive sensorineural hearing impairment.

Li Z, Guo Y, Lu Y, Li J, Jin Z, Li H, Lu Y, Dai P, Han D, Cheng J, Yuan H.

PLoS One. 2013 Jul 31;8(7):e70134. doi: 10.1371/journal.pone.0070134. Print 2013.

PMID:
23936151
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

A novel TECTA mutation in a Dutch DFNA8/12 family confirms genotype-phenotype correlation.

Plantinga RF, de Brouwer AP, Huygen PL, Kunst HP, Kremer H, Cremers CW.

J Assoc Res Otolaryngol. 2006 Jun;7(2):173-81. Epub 2006 Apr 25.

PMID:
16718611
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

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

PMID:
19728970
[PubMed - indexed for MEDLINE]
18.

Mapping of the alpha-tectorin gene (TECTA) to mouse chromosome 9 and human chromosome 11: a candidate for human autosomal dominant nonsyndromic deafness.

Hughes DC, Legan PK, Steel KP, Richardson GP.

Genomics. 1998 Feb 15;48(1):46-51.

PMID:
9503015
[PubMed - indexed for MEDLINE]
19.

Autosomal-dominant, prelingual, nonprogressive sensorineural hearing loss: localization of the gene (DFNA8) to chromosome 11q by linkage in an Austrian family.

Kirschhofer K, Kenyon JB, Hoover DM, Franz P, Weipoltshammer K, Wachtler F, Kimberling WJ.

Cytogenet Cell Genet. 1998;82(1-2):126-30.

PMID:
9763681
[PubMed - indexed for MEDLINE]
20.

Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1.

Young TL, Ives E, Lynch E, Person R, Snook S, MacLaren L, Cater T, Griffin A, Fernandez B, Lee MK, King MC.

Hum Mol Genet. 2001 Oct 15;10(22):2509-14. Erratum in: Hum Mol Genet 2001 Dec 15;10(26):3111. Cator T [corrected to Cater T].

PMID:
11709538
[PubMed - indexed for MEDLINE]
Free Article

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