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Year Number of Results
2011 3
2013 1
2014 5
2015 1
2017 1
2020 0
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10 results
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Page 1
The Genetic Basis of Pericentral Retinitis Pigmentosa-A Form of Mild Retinitis Pigmentosa.
Comander J, Weigel-DiFranco C, Maher M, Place E, Wan A, Harper S, Sandberg MA, Navarro-Gomez D, Pierce EA. Comander J, et al. Among authors: harper s. Genes (Basel). 2017 Oct 5;8(10):256. doi: 10.3390/genes8100256. Genes (Basel). 2017. PMID: 28981474 Free PMC article.
Targeted exon sequencing in Usher syndrome type I.
Bujakowska KM, Consugar M, Place E, Harper S, Lena J, Taub DG, White J, Navarro-Gomez D, Weigel DiFranco C, Farkas MH, Gai X, Berson EL, Pierce EA. Bujakowska KM, et al. Among authors: harper s. Invest Ophthalmol Vis Sci. 2014 Dec 2;55(12):8488-96. doi: 10.1167/iovs.14-15169. Invest Ophthalmol Vis Sci. 2014. PMID: 25468891 Free PMC article.
Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa.
Benaglio P, San Jose PF, Avila-Fernandez A, Ascari G, Harper S, Manes G, Ayuso C, Hamel C, Berson EL, Rivolta C. Benaglio P, et al. Among authors: harper s. Mol Vis. 2014 Jun 18;20:843-51. eCollection 2014. Mol Vis. 2014. PMID: 24959063 Free PMC article.
Molecular genetics of FAM161A in North American patients with early-onset retinitis pigmentosa.
Venturini G, Di Gioia SA, Harper S, Weigel-DiFranco C, Rivolta C, Berson EL. Venturini G, et al. Among authors: harper s. PLoS One. 2014 Mar 20;9(3):e92479. doi: 10.1371/journal.pone.0092479. eCollection 2014. PLoS One. 2014. PMID: 24651477 Free PMC article.
Two specific mutations are prevalent causes of recessive retinitis pigmentosa in North American patients of Jewish ancestry.
Venturini G, Koskiniemi-Kuendig H, Harper S, Berson EL, Rivolta C. Venturini G, et al. Among authors: harper s. Genet Med. 2015 Apr;17(4):285-90. doi: 10.1038/gim.2014.132. Epub 2014 Sep 25. Genet Med. 2015. PMID: 25255364 Free article.
Next generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosa.
Benaglio P, McGee TL, Capelli LP, Harper S, Berson EL, Rivolta C. Benaglio P, et al. Among authors: harper s. Hum Mutat. 2011 Jun;32(6):E2246-58. doi: 10.1002/humu.21485. Epub 2011 Feb 24. Hum Mutat. 2011. PMID: 21618346
Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene.
Nishiguchi KM, Tearle RG, Liu YP, Oh EC, Miyake N, Benaglio P, Harper S, Koskiniemi-Kuendig H, Venturini G, Sharon D, Koenekoop RK, Nakamura M, Kondo M, Ueno S, Yasuma TR, Beckmann JS, Ikegawa S, Matsumoto N, Terasaki H, Berson EL, Katsanis N, Rivolta C. Nishiguchi KM, et al. Among authors: harper s. Proc Natl Acad Sci U S A. 2013 Oct 1;110(40):16139-44. doi: 10.1073/pnas.1308243110. Epub 2013 Sep 16. Proc Natl Acad Sci U S A. 2013. PMID: 24043777 Free PMC article.
Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.
Chen J, Smaoui N, Hammer MB, Jiao X, Riazuddin SA, Harper S, Katsanis N, Riazuddin S, Chaabouni H, Berson EL, Hejtmancik JF. Chen J, et al. Among authors: harper s. Invest Ophthalmol Vis Sci. 2011 Jul 18;52(8):5317-24. doi: 10.1167/iovs.11-7554. Invest Ophthalmol Vis Sci. 2011. PMID: 21642631 Free PMC article.
The relationship of central foveal thickness to urinary iodine concentration in retinitis pigmentosa with or without cystoid macular edema.
Sandberg MA, Pearce EN, Harper S, Weigel-DiFranco C, Hart L, Rosner B, Berson EL. Sandberg MA, et al. Among authors: harper s. JAMA Ophthalmol. 2014 Oct;132(10):1209-14. doi: 10.1001/jamaophthalmol.2014.1726. JAMA Ophthalmol. 2014. PMID: 24993773 Free PMC article.
A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa.
Tanackovic G, Ransijn A, Ayuso C, Harper S, Berson EL, Rivolta C. Tanackovic G, et al. Among authors: harper s. Am J Hum Genet. 2011 May 13;88(5):643-9. doi: 10.1016/j.ajhg.2011.04.008. Epub 2011 May 5. Am J Hum Genet. 2011. PMID: 21549338 Free PMC article.