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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1983 1
1984 7
1985 12
1986 10
1987 7
1988 12
1989 4
1990 8
1991 4
1992 9
1993 12
1994 3
1995 5
1996 2
1997 2
1998 7
1999 4
2000 11
2001 6
2002 5
2003 13
2004 14
2005 12
2006 18
2007 12
2008 13
2009 15
2010 14
2011 17
2012 26
2013 15
2014 18
2015 13
2016 14
2017 11
2018 17
2019 14
2020 14
2021 10
2022 16
2023 7
2024 1

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397 results

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Page 1
Cohen Syndrome.
Wang H, Falk MJ, Wensel C, Traboulsi EI. Wang H, et al. Among authors: traboulsi ei. 2006 Aug 29 [updated 2016 Jul 21]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2006 Aug 29 [updated 2016 Jul 21]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301655 Free Books & Documents. Review.
Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8.
Fujinami K, Strauss RW, Chiang JP, Audo IS, Bernstein PS, Birch DG, Bomotti SM, Cideciyan AV, Ervin AM, Marino MJ, Sahel JA, Mohand-Said S, Sunness JS, Traboulsi EI, West S, Wojciechowski R, Zrenner E, Michaelides M, Scholl HPN; ProgStar Study Group; ProgStar Study Group. Fujinami K, et al. Among authors: traboulsi ei. Br J Ophthalmol. 2019 Mar;103(3):390-397. doi: 10.1136/bjophthalmol-2018-312064. Epub 2018 Jun 20. Br J Ophthalmol. 2019. PMID: 29925512 Free PMC article.
Gene therapy for RPE65-related retinal disease.
Miraldi Utz V, Coussa RG, Antaki F, Traboulsi EI. Miraldi Utz V, et al. Among authors: traboulsi ei. Ophthalmic Genet. 2018 Dec;39(6):671-677. doi: 10.1080/13816810.2018.1533027. Epub 2018 Oct 18. Ophthalmic Genet. 2018. PMID: 30335549 Review.
Color vision testing.
Melamud A, Hagstrom S, Traboulsi E. Melamud A, et al. Among authors: traboulsi e. Ophthalmic Genet. 2004 Sep;25(3):159-87. doi: 10.1080/13816810490498341. Ophthalmic Genet. 2004. PMID: 15512994 Review.
Effective gene therapy of Stargardt disease with PEG-ECO/pGRK1-ABCA4-S/MAR nanoparticles.
Sun D, Sun W, Gao SQ, Lehrer J, Naderi A, Wei C, Lee S, Schilb AL, Scheidt J, Hall RC, Traboulsi EI, Palczewski K, Lu ZR. Sun D, et al. Among authors: traboulsi ei. Mol Ther Nucleic Acids. 2022 Aug 24;29:823-835. doi: 10.1016/j.omtn.2022.08.026. eCollection 2022 Sep 13. Mol Ther Nucleic Acids. 2022. PMID: 36159595 Free PMC article.
Mutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, or Traboulsi syndrome.
Patel N, Khan AO, Mansour A, Mohamed JY, Al-Assiri A, Haddad R, Jia X, Xiong Y, Mégarbané A, Traboulsi EI, Alkuraya FS. Patel N, et al. Among authors: traboulsi ei. Am J Hum Genet. 2014 May 1;94(5):755-9. doi: 10.1016/j.ajhg.2014.04.002. Epub 2014 Apr 24. Am J Hum Genet. 2014. PMID: 24768550 Free PMC article.
Ocular manifestations of the autoinflammatory syndromes.
Tarabishy AB, Hise AG, Traboulsi EI. Tarabishy AB, et al. Among authors: traboulsi ei. Ophthalmic Genet. 2012 Dec;33(4):179-86. doi: 10.3109/13816810.2012.695421. Epub 2012 Aug 27. Ophthalmic Genet. 2012. PMID: 22924780 Review.
Neuropathy target esterase activity predicts retinopathy among PNPLA6 disorders.
Liu J, He Y, Lwin C, Han M, Guan B, Naik A, Bender C, Moore N, Huryn LA, Sergeev Y, Qian H, Zeng Y, Dong L, Liu P, Lei J, Haugen CJ, Prasov L, Shi R, Dollfus H, Aristodemou P, Laich Y, Németh AH, Taylor J, Downes S, Krawczynski M, Meunier I, Strassberg M, Tenney J, Gao J, Shear MA, Moore AT, Duncan JL, Menendez B, Hull S, Vincent A, Siskind CE, Traboulsi EI, Blackstone C, Sisk R, Utz V, Webster AR, Michaelides M, Arno G, Synofzik M, Hufnagel RB. Liu J, et al. Among authors: traboulsi ei. bioRxiv [Preprint]. 2023 Jun 11:2023.06.09.544373. doi: 10.1101/2023.06.09.544373. bioRxiv. 2023. PMID: 37333224 Free PMC article. Preprint.
397 results