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Items: 1 to 20 of 119

1.

Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I.

Jaijo T, Oshima A, Aller E, Carney C, Usami S, Millán JM, Kimberling WJ.

Mol Vis. 2012;18:1719-26. Epub 2012 Jun 23.

2.

Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes.

Schultz JM, Bhatti R, Madeo AC, Turriff A, Muskett JA, Zalewski CK, King KA, Ahmed ZM, Riazuddin S, Ahmad N, Hussain Z, Qasim M, Kahn SN, Meltzer MR, Liu XZ, Munisamy M, Ghosh M, Rehm HL, Tsilou ET, Griffith AJ, Zein WM, Brewer CC, Riazuddin S, Friedman TB.

J Med Genet. 2011 Nov;48(11):767-75. doi: 10.1136/jmedgenet-2011-100262. Epub 2011 Sep 22.

PMID:
21940737
3.

Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome.

Ahmed ZM, Riazuddin S, Aye S, Ali RA, Venselaar H, Anwar S, Belyantseva PP, Qasim M, Riazuddin S, Friedman TB.

Hum Genet. 2008 Oct;124(3):215-23. doi: 10.1007/s00439-008-0543-3. Epub 2008 Aug 22.

4.

Novel mutations in the USH1C gene in Usher syndrome patients.

Aparisi MJ, García-García G, Jaijo T, Rodrigo R, Graziano C, Seri M, Simsek T, Simsek E, Bernal S, Baiget M, Pérez-Garrigues H, Aller E, Millán JM.

Mol Vis. 2010 Dec 31;16:2948-54.

5.

Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%.

Roux AF, Faugère V, Le Guédard S, Pallares-Ruiz N, Vielle A, Chambert S, Marlin S, Hamel C, Gilbert B, Malcolm S, Claustres M; French Usher Syndrome Collaboration.

J Med Genet. 2006 Sep;43(9):763-8. Epub 2006 May 5.

6.

Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1.

Yoshimura H, Iwasaki S, Nishio SY, Kumakawa K, Tono T, Kobayashi Y, Sato H, Nagai K, Ishikawa K, Ikezono T, Naito Y, Fukushima K, Oshikawa C, Kimitsuki T, Nakanishi H, Usami S.

PLoS One. 2014 Mar 11;9(3):e90688. doi: 10.1371/journal.pone.0090688. eCollection 2014.

7.

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
8.

Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15.

Doucette L, Merner ND, Cooke S, Ives E, Galutira D, Walsh V, Walsh T, MacLaren L, Cater T, Fernandez B, Green JS, Wilcox ER, Shotland LI, Li XC, Lee M, King MC, Young TL.

Eur J Hum Genet. 2009 May;17(5):554-64. doi: 10.1038/ejhg.2008.231. Epub 2008 Dec 24. Erratum in: Eur J Hum Genet. 2009 Oct;17(10):1363. Shotland, Larry [corrected to Shotland, Lawrence I]; Li, X C [corrected to Li, Xiaoyan Cindy].

9.

Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I.

Oshima A, Jaijo T, Aller E, Millan JM, Carney C, Usami S, Moller C, Kimberling WJ.

Hum Mutat. 2008 Jun;29(6):E37-46. doi: 10.1002/humu.20761.

10.

Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencing.

Yoshimura H, Miyagawa M, Kumakawa K, Nishio SY, Usami S.

J Hum Genet. 2016 May;61(5):419-22. doi: 10.1038/jhg.2015.168. Epub 2016 Jan 21.

11.

Mutation analysis of the MYO7A and CDH23 genes in Japanese patients with Usher syndrome type 1.

Nakanishi H, Ohtsubo M, Iwasaki S, Hotta Y, Takizawa Y, Hosono K, Mizuta K, Mineta H, Minoshima S.

J Hum Genet. 2010 Dec;55(12):796-800. doi: 10.1038/jhg.2010.115. Epub 2010 Sep 16.

PMID:
20844544
12.

Large genomic rearrangements within the PCDH15 gene are a significant cause of USH1F syndrome.

Le Guédard S, Faugère V, Malcolm S, Claustres M, Roux AF.

Mol Vis. 2007 Jan 26;13:102-7.

13.

PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23.

Ahmed ZM, Riazuddin S, Ahmad J, Bernstein SL, Guo Y, Sabar MF, Sieving P, Riazuddin S, Griffith AJ, Friedman TB, Belyantseva IA, Wilcox ER.

Hum Mol Genet. 2003 Dec 15;12(24):3215-23. Epub 2003 Oct 21.

PMID:
14570705
14.

Evidence of genetic heterogeneity in Alberta Hutterites with Usher syndrome type I.

Zhou Q, Lenger C, Smith R, Kimberling WJ, Ye M, Lehmann O, MacDonald I.

Mol Vis. 2012;18:1379-83. Epub 2012 May 31.

15.

Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations.

Garcia-Garcia G, Aparisi MJ, Jaijo T, Rodrigo R, Leon AM, Avila-Fernandez A, Blanco-Kelly F, Bernal S, Navarro R, Diaz-Llopis M, Baiget M, Ayuso C, Millan JM, Aller E.

Orphanet J Rare Dis. 2011 Oct 17;6:65. doi: 10.1186/1750-1172-6-65.

16.

Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.

Le Quesne Stabej P, Saihan Z, Rangesh N, Steele-Stallard HB, Ambrose J, Coffey A, Emmerson J, Haralambous E, Hughes Y, Steel KP, Luxon LM, Webster AR, Bitner-Glindzicz M.

J Med Genet. 2012 Jan;49(1):27-36. doi: 10.1136/jmedgenet-2011-100468. Epub 2011 Dec 1.

17.

UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes.

Baux D, Faugère V, Larrieu L, Le Guédard-Méreuze S, Hamroun D, Béroud C, Malcolm S, Claustres M, Roux AF.

Hum Mutat. 2008 Aug;29(8):E76-87. doi: 10.1002/humu.20780.

PMID:
18484607
18.

Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.

Jaijo T, Aller E, García-García G, Aparisi MJ, Bernal S, Avila-Fernández A, Barragán I, Baiget M, Ayuso C, Antiñolo G, Díaz-Llopis M, Külm M, Beneyto M, Nájera C, Millán JM.

Invest Ophthalmol Vis Sci. 2010 Mar;51(3):1311-7. doi: 10.1167/iovs.09-4085. Epub 2009 Aug 13.

PMID:
19683999
19.

A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss.

Ebermann I, Scholl HP, Charbel Issa P, Becirovic E, Lamprecht J, Jurklies B, Millán JM, Aller E, Mitter D, Bolz H.

Hum Genet. 2007 Apr;121(2):203-11. Epub 2006 Dec 15.

PMID:
17171570
20.

Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease.

Reiners J, Nagel-Wolfrum K, Jürgens K, Märker T, Wolfrum U.

Exp Eye Res. 2006 Jul;83(1):97-119. Epub 2006 Mar 20. Review.

PMID:
16545802

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