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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2013 | 1 |
2014 | 1 |
2015 | 1 |
2016 | 3 |
2017 | 2 |
2024 | 0 |
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Page 1
Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype-phenotype correlations and unexpected diagnostic revisions.
Genet Med. 2015 Apr;17(4):262-70. doi: 10.1038/gim.2014.174. Epub 2014 Dec 4.
Genet Med. 2015.
PMID: 25474345
Free PMC article.
High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population.
Corton M, Tatu SD, Avila-Fernandez A, Vallespín E, Tapias I, Cantalapiedra D, Blanco-Kelly F, Riveiro-Alvarez R, Bernal S, García-Sandoval B, Baiget M, Ayuso C.
Corton M, et al.
Orphanet J Rare Dis. 2013 Feb 5;8:20. doi: 10.1186/1750-1172-8-20.
Orphanet J Rare Dis. 2013.
PMID: 23379534
Free PMC article.
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The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity.
Sergouniotis PI, Barton SJ, Waller S, Perveen R, Ellingford JM, Campbell C, Hall G, Gillespie RL, Bhaskar SS, Ramsden SC, Black GC, Lovell SC.
Sergouniotis PI, et al.
Orphanet J Rare Dis. 2016 Sep 14;11(1):125. doi: 10.1186/s13023-016-0505-0.
Orphanet J Rare Dis. 2016.
PMID: 27628848
Free PMC article.
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Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
Carss KJ, Arno G, Erwood M, Stephens J, Sanchis-Juan A, Hull S, Megy K, Grozeva D, Dewhurst E, Malka S, Plagnol V, Penkett C, Stirrups K, Rizzo R, Wright G, Josifova D, Bitner-Glindzicz M, Scott RH, Clement E, Allen L, Armstrong R, Brady AF, Carmichael J, Chitre M, Henderson RHH, Hurst J, MacLaren RE, Murphy E, Paterson J, Rosser E, Thompson DA, Wakeling E, Ouwehand WH, Michaelides M, Moore AT; NIHR-BioResource Rare Diseases Consortium; Webster AR, Raymond FL.
Carss KJ, et al.
Am J Hum Genet. 2017 Jan 5;100(1):75-90. doi: 10.1016/j.ajhg.2016.12.003. Epub 2016 Dec 29.
Am J Hum Genet. 2017.
PMID: 28041643
Free PMC article.
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Isolated maculopathy associated with biallelic CRB1 mutations.
Shah N, Damani MR, Zhu XS, Bedoukian EC, Bennett J, Maguire AM, Leroy BP.
Shah N, et al.
Ophthalmic Genet. 2017 Mar-Apr;38(2):190-193. doi: 10.3109/13816810.2016.1155225. Epub 2016 Apr 20.
Ophthalmic Genet. 2017.
PMID: 27096895
No abstract available.
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