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Year Number of Results
2008 1
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2011 2
2013 2
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2016 3
2017 1
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2020 1
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2024 0

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17 results

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Page 1
Corneal dystrophies.
Klintworth GK. Klintworth GK. Orphanet J Rare Dis. 2009 Feb 23;4:7. doi: 10.1186/1750-1172-4-7. Orphanet J Rare Dis. 2009. PMID: 19236704 Free PMC article. Review.
Identification of genetic risk loci and prioritization of genes and pathways for myasthenia gravis: a genome-wide association study.
Chia R, Saez-Atienzar S, Murphy N, Chiò A, Blauwendraat C; International Myasthenia Gravis Genomics Consortium; Roda RH, Tienari PJ, Kaminski HJ, Ricciardi R, Guida M, De Rosa A, Petrucci L, Evoli A, Provenzano C, Drachman DB, Traynor BJ. Chia R, et al. Proc Natl Acad Sci U S A. 2022 Feb 1;119(5):e2108672119. doi: 10.1073/pnas.2108672119. Proc Natl Acad Sci U S A. 2022. PMID: 35074870 Free PMC article.
The parameters to establish a new corneal dystrophy.
Klintworth GK. Klintworth GK. Am J Ophthalmol. 2011 Aug;152(2):155-6. doi: 10.1016/j.ajo.2011.04.010. Am J Ophthalmol. 2011. PMID: 21784192 Free PMC article. No abstract available.
Genetic analysis of amyotrophic lateral sclerosis identifies contributing pathways and cell types.
Saez-Atienzar S, Bandres-Ciga S, Langston RG, Kim JJ, Choi SW, Reynolds RH; International ALS Genomics Consortium; ITALSGEN; Abramzon Y, Dewan R, Ahmed S, Landers JE, Chia R, Ryten M, Cookson MR, Nalls MA, Chiò A, Traynor BJ. Saez-Atienzar S, et al. Sci Adv. 2021 Jan 15;7(3):eabd9036. doi: 10.1126/sciadv.abd9036. Print 2021 Jan. Sci Adv. 2021. PMID: 33523907 Free PMC article.
Recurrent Rare Copy Number Variants Increase Risk for Esotropia.
Whitman MC, Di Gioia SA, Chan WM, Gelber A, Pratt BM, Bell JL, Collins TE, Knowles JA, Armoskus C, Pato M, Pato C, Shaaban S, Staffieri S, MacKinnon S, Maconachie GDE, Elder JE, Traboulsi EI, Gottlob I, Mackey DA, Hunter DG, Engle EC; Strabismus Genetics Research Consortium. Whitman MC, et al. Invest Ophthalmol Vis Sci. 2020 Aug 3;61(10):22. doi: 10.1167/iovs.61.10.22. Invest Ophthalmol Vis Sci. 2020. PMID: 32780866 Free PMC article.
Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy.
Afshari NA, Igo RP Jr, Morris NJ, Stambolian D, Sharma S, Pulagam VL, Dunn S, Stamler JF, Truitt BJ, Rimmler J, Kuot A, Croasdale CR, Qin X, Burdon KP, Riazuddin SA, Mills R, Klebe S, Minear MA, Zhao J, Balajonda E, Rosenwasser GO, Baratz KH, Mootha VV, Patel SV, Gregory SG, Bailey-Wilson JE, Price MO, Price FW Jr, Craig JE, Fingert JH, Gottsch JD, Aldave AJ, Klintworth GK, Lass JH, Li YJ, Iyengar SK. Afshari NA, et al. Nat Commun. 2017 Mar 30;8:14898. doi: 10.1038/ncomms14898. Nat Commun. 2017. PMID: 28358029 Free PMC article.
Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect.
Shaaban S, MacKinnon S, Andrews C, Staffieri SE, Maconachie GDE, Chan WM, Whitman MC, Morton SU, Yazar S, MacGregor S, Elder JE, Traboulsi EI, Gottlob I, Hewitt AW; Strabismus Genetics Research Consortium; Hunter DG, Mackey DA, Engle EC. Shaaban S, et al. Invest Ophthalmol Vis Sci. 2018 Aug 1;59(10):4054-4064. doi: 10.1167/iovs.18-24082. Invest Ophthalmol Vis Sci. 2018. PMID: 30098192 Free PMC article.
17 results