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Year | Number of Results |
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2004 | 1 |
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2010 | 1 |
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Page 1
Development of a genotyping microarray for Usher syndrome.
J Med Genet. 2007 Feb;44(2):153-60. doi: 10.1136/jmg.2006.044784. Epub 2006 Sep 8.
J Med Genet. 2007.
PMID: 16963483
Free PMC article.
Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II.
van Wijk E, Pennings RJ, te Brinke H, Claassen A, Yntema HG, Hoefsloot LH, Cremers FP, Cremers CW, Kremer H.
van Wijk E, et al.
Am J Hum Genet. 2004 Apr;74(4):738-44. doi: 10.1086/383096. Epub 2004 Mar 10.
Am J Hum Genet. 2004.
PMID: 15015129
Free PMC article.
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Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.
Dreyer B, Brox V, Tranebjaerg L, Rosenberg T, Sadeghi AM, Möller C, Nilssen O.
Dreyer B, et al.
Hum Mutat. 2008 Mar;29(3):451. doi: 10.1002/humu.9524.
Hum Mutat. 2008.
PMID: 18273898
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Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism.
Jacobson SG, Cideciyan AV, Aleman TS, Sumaroka A, Roman AJ, Gardner LM, Prosser HM, Mishra M, Bech-Hansen NT, Herrera W, Schwartz SB, Liu XZ, Kimberling WJ, Steel KP, Williams DS.
Jacobson SG, et al.
Hum Mol Genet. 2008 Aug 1;17(15):2405-15. doi: 10.1093/hmg/ddn140. Epub 2008 May 7.
Hum Mol Genet. 2008.
PMID: 18463160
Free PMC article.
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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.
Jaijo T, et al.
Invest Ophthalmol Vis Sci. 2010 Mar;51(3):1311-7. doi: 10.1167/iovs.09-4085. Epub 2009 Aug 13.
Invest Ophthalmol Vis Sci. 2010.
PMID: 19683999
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