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Year | Number of Results |
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2000 | 2 |
2010 | 1 |
2015 | 1 |
2016 | 1 |
2024 | 0 |
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Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.
Am J Hum Genet. 2000 Apr;66(4):1199-210. doi: 10.1086/302855. Epub 2000 Mar 22.
Am J Hum Genet. 2000.
PMID: 10729113
Free PMC article.
Identification of novel USH2A mutations: implications for the structure of USH2A protein.
Dreyer B, Tranebjaerg L, Rosenberg T, Weston MD, Kimberling WJ, Nilssen O.
Dreyer B, et al.
Eur J Hum Genet. 2000 Jul;8(7):500-6. doi: 10.1038/sj.ejhg.5200491.
Eur J Hum Genet. 2000.
PMID: 10909849
Item in Clipboard
Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.
McGee TL, Seyedahmadi BJ, Sweeney MO, Dryja TP, Berson EL.
McGee TL, et al.
J Med Genet. 2010 Jul;47(7):499-506. doi: 10.1136/jmg.2009.075143. Epub 2010 May 27.
J Med Genet. 2010.
PMID: 20507924
Free PMC article.
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A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.
Lenassi E, Vincent A, Li Z, Saihan Z, Coffey AJ, Steele-Stallard HB, Moore AT, Steel KP, Luxon LM, Héon E, Bitner-Glindzicz M, Webster AR.
Lenassi E, et al.
Eur J Hum Genet. 2015 Oct;23(10):1318-27. doi: 10.1038/ejhg.2014.283. Epub 2015 Feb 4.
Eur J Hum Genet. 2015.
PMID: 25649381
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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