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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2014 | 2 |
2015 | 2 |
2016 | 1 |
2024 | 0 |
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5 results
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Page 1
Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing.
Hum Genet. 2014 Oct;133(10):1255-71. doi: 10.1007/s00439-014-1460-2. Epub 2014 Jun 18.
Hum Genet. 2014.
PMID: 24938718
Comprehensive molecular diagnosis of a large cohort of Japanese retinitis pigmentosa and Usher syndrome patients by next-generation sequencing.
Oishi M, Oishi A, Gotoh N, Ogino K, Higasa K, Iida K, Makiyama Y, Morooka S, Matsuda F, Yoshimura N.
Oishi M, et al.
Invest Ophthalmol Vis Sci. 2014 Oct 16;55(11):7369-75. doi: 10.1167/iovs.14-15458.
Invest Ophthalmol Vis Sci. 2014.
PMID: 25324289
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Whole-exome sequencing identifies USH2A mutations in a pseudo-dominant Usher syndrome family.
Zheng SL, Zhang HL, Lin ZL, Kang QY.
Zheng SL, et al.
Int J Mol Med. 2015 Oct;36(4):1035-41. doi: 10.3892/ijmm.2015.2322. Epub 2015 Aug 24.
Int J Mol Med. 2015.
PMID: 26310143
Free PMC article.
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An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.
Bonnet C, Riahi Z, Chantot-Bastaraud S, Smagghe L, Letexier M, Marcaillou C, Lefèvre GM, Hardelin JP, El-Amraoui A, Singh-Estivalet A, Mohand-Saïd S, Kohl S, Kurtenbach A, Sliesoraityte I, Zobor D, Gherbi S, Testa F, Simonelli F, Banfi S, Fakin A, Glavač D, Jarc-Vidmar M, Zupan A, Battelino S, Martorell Sampol L, Claveria MA, Catala Mora J, Dad S, Møller LB, Rodriguez Jorge J, Hawlina M, Auricchio A, Sahel JA, Marlin S, Zrenner E, Audo I, Petit C.
Bonnet C, et al.
Eur J Hum Genet. 2016 Dec;24(12):1730-1738. doi: 10.1038/ejhg.2016.99. Epub 2016 Jul 27.
Eur J Hum Genet. 2016.
PMID: 27460420
Free PMC article.
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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.
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