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Results: 1 to 20 of 103

1.

miRNA mutations are not a common cause of deafness.

Hildebrand MS, Witmer PD, Xu S, Newton SS, Kahrizi K, Najmabadi H, Valle D, Smith RJ.

Am J Med Genet A. 2010 Mar;152A(3):646-52. doi: 10.1002/ajmg.a.33299.

PMID:
20186779
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Identification and characteristics of microRNAs from Bombyx mori.

He PA, Nie Z, Chen J, Chen J, Lv Z, Sheng Q, Zhou S, Gao X, Kong L, Wu X, Jin Y, Zhang Y.

BMC Genomics. 2008 May 28;9:248. doi: 10.1186/1471-2164-9-248.

PMID:
18507836
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus.

Khan SY, Ahmed ZM, Shabbir MI, Kitajiri S, Kalsoom S, Tasneem S, Shayiq S, Ramesh A, Srisailpathy S, Khan SN, Smith RJ, Riazuddin S, Friedman TB, Riazuddin S.

Hum Mutat. 2007 May;28(5):417-23.

PMID:
17226784
[PubMed - indexed for MEDLINE]
4.

Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74.

Ahmed ZM, Yousaf R, Lee BC, Khan SN, Lee S, Lee K, Husnain T, Rehman AU, Bonneux S, Ansar M, Ahmad W, Leal SM, Gladyshev VN, Belyantseva IA, Van Camp G, Riazuddin S, Friedman TB, Riazuddin S.

Am J Hum Genet. 2011 Jan 7;88(1):19-29. doi: 10.1016/j.ajhg.2010.11.010. Epub 2010 Dec 23.

PMID:
21185009
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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]
6.

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
[PubMed - indexed for MEDLINE]
7.

Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus.

Naz S, Giguere CM, Kohrman DC, Mitchem KL, Riazuddin S, Morell RJ, Ramesh A, Srisailpathy S, Deshmukh D, Riazuddin S, Griffith AJ, Friedman TB, Smith RJ, Wilcox ER.

Am J Hum Genet. 2002 Sep;71(3):632-6. Epub 2002 Jul 24.

PMID:
12145746
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing.

Soldà G, Robusto M, Primignani P, Castorina P, Benzoni E, Cesarani A, Ambrosetti U, Asselta R, Duga S.

Hum Mol Genet. 2012 Feb 1;21(3):577-85. doi: 10.1093/hmg/ddr493. Epub 2011 Oct 28.

PMID:
22038834
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Variable expressivity of FGF3 mutations associated with deafness and LAMM syndrome.

Riazuddin S, Ahmed ZM, Hegde RS, Khan SN, Nasir I, Shaukat U, Riazuddin S, Butman JA, Griffith AJ, Friedman TB, Choi BY.

BMC Med Genet. 2011 Feb 9;12:21. doi: 10.1186/1471-2350-12-21.

PMID:
21306635
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

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
11.

Mutations of human TMHS cause recessively inherited non-syndromic hearing loss.

Shabbir MI, Ahmed ZM, Khan SY, Riazuddin S, Waryah AM, Khan SN, Camps RD, Ghosh M, Kabra M, Belyantseva IA, Friedman TB, Riazuddin S.

J Med Genet. 2006 Aug;43(8):634-40. Epub 2006 Feb 3.

PMID:
16459341
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

The chicken miR-150 targets the avian orthologue of the functional zebrafish MYB 3'UTR target site.

Guillon-Munos A, Dambrine G, Richerioux N, Coupeau D, Muylkens B, Rasschaert D.

BMC Mol Biol. 2010 Sep 2;11:67. doi: 10.1186/1471-2199-11-67.

PMID:
20813039
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss.

Liu XZ, Xia XJ, Xu LR, Pandya A, Liang CY, Blanton SH, Brown SD, Steel KP, Nance WE.

Hum Mol Genet. 2000 Jan 1;9(1):63-7.

PMID:
10587579
[PubMed - indexed for MEDLINE]
Free Article
14.

Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan.

Ahmed ZM, Li XC, Powell SD, Riazuddin S, Young TL, Ramzan K, Ahmad Z, Luscombe S, Dhillon K, MacLaren L, Ploplis B, Shotland LI, Ives E, Riazuddin S, Friedman TB, Morell RJ, Wilcox ER.

BMC Med Genet. 2004 Sep 24;5:24.

PMID:
15447792
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

MicroRNAs and epigenetic regulation in the mammalian inner ear: implications for deafness.

Friedman LM, Avraham KB.

Mamm Genome. 2009 Sep-Oct;20(9-10):581-603. doi: 10.1007/s00335-009-9230-5. Epub 2009 Oct 30. Review.

PMID:
19876605
[PubMed - indexed for MEDLINE]
16.

Identities, frequencies and origins of TMC1 mutations causing DFNB7/B11 deafness in Pakistan.

Kitajiri SI, McNamara R, Makishima T, Husnain T, Zafar AU, Kittles RA, Ahmed ZM, Friedman TB, Riazuddin S, Griffith AJ.

Clin Genet. 2007 Dec;72(6):546-50. Epub 2007 Sep 17.

PMID:
17877751
[PubMed - indexed for MEDLINE]
17.

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]
18.

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
19.

Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss.

Mencía A, Modamio-Høybjør S, Redshaw N, Morín M, Mayo-Merino F, Olavarrieta L, Aguirre LA, del Castillo I, Steel KP, Dalmay T, Moreno F, Moreno-Pelayo MA.

Nat Genet. 2009 May;41(5):609-13. doi: 10.1038/ng.355. Epub 2009 Apr 12.

PMID:
19363479
[PubMed - indexed for MEDLINE]
20.

A forward genetics screen in mice identifies recessive deafness traits and reveals that pejvakin is essential for outer hair cell function.

Schwander M, Sczaniecka A, Grillet N, Bailey JS, Avenarius M, Najmabadi H, Steffy BM, Federe GC, Lagler EA, Banan R, Hice R, Grabowski-Boase L, Keithley EM, Ryan AF, Housley GD, Wiltshire T, Smith RJ, Tarantino LM, Müller U.

J Neurosci. 2007 Feb 28;27(9):2163-75.

PMID:
17329413
[PubMed - indexed for MEDLINE]
Free Article

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