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Year | Number of Results |
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2000 | 2 |
2010 | 1 |
2015 | 1 |
2019 | 1 |
2020 | 1 |
2021 | 1 |
2024 | 0 |
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Page 1
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
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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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Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases.
Kim MS, Joo K, Seong MW, Kim MJ, Park KH, Park SS, Woo SJ.
Kim MS, et al.
J Korean Med Sci. 2019 Jun 2;34(21):e161. doi: 10.3346/jkms.2019.34.e161.
J Korean Med Sci. 2019.
PMID: 31144483
Free PMC article.
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Mutation screening of the USH2A gene reveals two novel pathogenic variants in Chinese patients causing simplex usher syndrome 2.
He C, Liu X, Zhong Z, Chen J.
He C, et al.
BMC Ophthalmol. 2020 Feb 24;20(1):70. doi: 10.1186/s12886-020-01342-y.
BMC Ophthalmol. 2020.
PMID: 32093671
Free PMC article.
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Genetic investigation of 211 Chinese families expands the mutational and phenotypical spectra of hereditary retinopathy genes through targeted sequencing technology.
Bai Z, Xie Y, Liu L, Shao J, Liu Y, Kong X.
Bai Z, et al.
BMC Med Genomics. 2021 Mar 29;14(1):92. doi: 10.1186/s12920-021-00935-w.
BMC Med Genomics. 2021.
PMID: 33781268
Free PMC article.
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