18452394 10738000 18273898 26338283 27032803 17405132 19683999 15025721 25333064[uid] - Search Results

Year	Number of Results
2000	1
2004	1
2007	1
2008	2
2009	1
2010	1
2014	1
2015	1
2016	1
2024	0

1

Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews.

Auslender N, Bandah D, Rizel L, Behar DM, Shohat M, Banin E, Allon-Shalev S, Sharony R, Sharon D, Ben-Yosef T. Auslender N, et al. Genet Test. 2008 Jun;12(2):289-94. doi: 10.1089/gte.2007.0107. Genet Test. 2008. PMID: 18452394

2

Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 families.

Adato A, Weston MD, Berry A, Kimberling WJ, Bonne-Tamir A. Adato A, et al. Hum Mutat. 2000 Apr;15(4):388. doi: 10.1002/(SICI)1098-1004(200004)15:4<388::AID-HUMU27>3.0.CO;2-N. Hum Mutat. 2000. PMID: 10738000

3

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

4

Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.

Jiang L, Liang X, Li Y, Wang J, Zaneveld JE, Wang H, Xu S, Wang K, Wang B, Chen R, Sui R. Jiang L, et al. Orphanet J Rare Dis. 2015 Sep 4;10:110. doi: 10.1186/s13023-015-0329-3. Orphanet J Rare Dis. 2015. PMID: 26338283 Free PMC article.

5

Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel.

Bravo-Gil N, Méndez-Vidal C, Romero-Pérez L, González-del Pozo M, Rodríguez-de la Rúa E, Dopazo J, Borrego S, Antiñolo G. Bravo-Gil N, et al. Sci Rep. 2016 Apr 1;6:23910. doi: 10.1038/srep23910. Sci Rep. 2016. PMID: 27032803 Free PMC article.

6

Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients.

Baux D, Larrieu L, Blanchet C, Hamel C, Ben Salah S, Vielle A, Gilbert-Dussardier B, Holder M, Calvas P, Philip N, Edery P, Bonneau D, Claustres M, Malcolm S, Roux AF. Baux D, et al. Hum Mutat. 2007 Aug;28(8):781-9. doi: 10.1002/humu.20513. Hum Mutat. 2007. PMID: 17405132

7

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

8

Mutational spectrum in Usher syndrome type II.

Ouyang XM, Hejtmancik JF, Jacobson SG, Li AR, Du LL, Angeli S, Kaiser M, Balkany T, Liu XZ. Ouyang XM, et al. Clin Genet. 2004 Apr;65(4):288-93. doi: 10.1046/j.1399-0004.2004.00216.x. Clin Genet. 2004. PMID: 15025721

9

Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome.

Krawitz PM, Schiska D, Krüger U, Appelt S, Heinrich V, Parkhomchuk D, Timmermann B, Millan JM, Robinson PN, Mundlos S, Hecht J, Gross M. Krawitz PM, et al. Mol Genet Genomic Med. 2014 Sep;2(5):393-401. doi: 10.1002/mgg3.92. Epub 2014 Jun 15. Mol Genet Genomic Med. 2014. PMID: 25333064 Free PMC article.

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