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Items: 1 to 20 of 282

1.

Overlapping Phenotypes in Congenital Ocular Malformations and the Importance of Molecular Testing.

Traboulsi EI.

JAMA Ophthalmol. 2019 Jan 17. doi: 10.1001/jamaophthalmol.2018.5638. [Epub ahead of print] No abstract available.

PMID:
30653211
2.

Evidence of retinal degeneration in Wolfram syndrome.

Scaramuzzi M, Kumar P, Peachey N, Nucci P, Traboulsi EI.

Ophthalmic Genet. 2018 Dec 3:1-5. doi: 10.1080/13816810.2018.1551494. [Epub ahead of print]

PMID:
30507261
3.

Gene therapy for RPE65-related retinal disease.

Miraldi Utz V, Coussa RG, Antaki F, Traboulsi EI.

Ophthalmic Genet. 2018 Dec;39(6):671-677. doi: 10.1080/13816810.2018.1533027. Epub 2018 Oct 18.

PMID:
30335549
4.

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.

Invest Ophthalmol Vis Sci. 2018 Aug 1;59(10):4054-4064. doi: 10.1167/iovs.18-24082.

5.

Bilateral angle closure glaucoma in a 28-year-old Cohen syndrome patient.

Li A, Gandhi A, Wang H, Traboulsi EI.

Ophthalmic Genet. 2018 Oct;39(5):657-658. doi: 10.1080/13816810.2018.1495746. Epub 2018 Jul 9. No abstract available.

PMID:
29985682
6.

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; On behalf of the ProgStar Study Group; ProgStar Study Group.

Br J Ophthalmol. 2018 Jun 20. pii: bjophthalmol-2018-312064. doi: 10.1136/bjophthalmol-2018-312064. [Epub ahead of print]

7.

Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies.

Di Gioia SA, Shaaban S, Tüysüz B, Elcioglu NH, Chan WM, Robson CD, Ecklund K, Gilette NM, Hamzaoglu A, Tayfun GA, Traboulsi EI, Engle EC.

Am J Hum Genet. 2018 Jul 5;103(1):115-124. doi: 10.1016/j.ajhg.2018.05.003. Epub 2018 Jun 7.

8.

Cataract morphology and risk for glaucoma after cataract surgery in infants with unilateral congenital cataract.

Traboulsi EI, Freedman SF, Wilson ME Jr, Lambert SR; Infant Aphakia Treatment Study Group.

J Cataract Refract Surg. 2017 Dec;43(12):1611-1612. doi: 10.1016/j.jcrs.2017.10.032. No abstract available.

9.

Identification of a mutation in CNNM4 by whole exome sequencing in an Amish family and functional link between CNNM4 and IQCB1.

Li S, Xi Q, Zhang X, Yu D, Li L, Jiang Z, Chen Q, Wang QK, Traboulsi EI.

Mol Genet Genomics. 2018 Jun;293(3):699-710. doi: 10.1007/s00438-018-1417-6. Epub 2018 Jan 10.

PMID:
29322253
10.

Orbital rhabdomyosarcoma in a child with Leigh syndrome.

Li A, Blandford A, Chundury RV, Traboulsi EI, Anderson P, Murphy E, Parikh S, Perry J.

J AAPOS. 2018 Apr;22(2):150-152.e1. doi: 10.1016/j.jaapos.2017.09.006. Epub 2017 Dec 20.

PMID:
29274371
11.

A novel dominant CRX mutation causes adult-onset macular dystrophy.

Griffith JF, DeBenedictis MJ, Traboulsi EI.

Ophthalmic Genet. 2018 Jan-Feb;39(1):120-124. doi: 10.1080/13816810.2017.1373831. Epub 2017 Sep 25.

PMID:
28945142
12.

Clinical characteristics of recessive retinal degeneration due to mutations in the CDHR1 gene and a review of the literature.

Bessette AP, DeBenedictis MJ, Traboulsi EI.

Ophthalmic Genet. 2018 Jan-Feb;39(1):51-55. doi: 10.1080/13816810.2017.1363244. Epub 2017 Sep 8. Review.

PMID:
28885867
13.

A Professionalism Curricular Model to Promote Transformative Learning Among Residents.

Foshee CM, Mehdi A, Bierer SB, Traboulsi EI, Isaacson JH, Spencer A, Calabrese C, Burkey BB.

J Grad Med Educ. 2017 Jun;9(3):351-356. doi: 10.4300/JGME-D-16-00421.1.

14.

ELLIPSOID ZONE MAPPING AND OUTER RETINAL ASSESSMENT IN STARGARDT DISEASE.

Arepalli S, Traboulsi EI, Ehlers JP.

Retina. 2018 Jul;38(7):1427-1431. doi: 10.1097/IAE.0000000000001716.

PMID:
28613213
15.

Identification and population history of CYP4V2 mutations in patients with Bietti crystalline corneoretinal dystrophy.

Jiao X, Li A, Jin ZB, Wang X, Iannaccone A, Traboulsi EI, Gorin MB, Simonelli F, Hejtmancik JF.

Eur J Hum Genet. 2017 Apr;25(4):461-471. doi: 10.1038/ejhg.2016.184. Epub 2017 Jan 4.

16.

Correlation of ultra-widefield fundus autofluorescence patterns with the underlying genotype in retinal dystrophies and retinitis pigmentosa.

Trichonas G, Traboulsi EI, Ehlers JP.

Ophthalmic Genet. 2017 Jul-Aug;38(4):320-324. doi: 10.1080/13816810.2016.1227450. Epub 2016 Nov 23.

17.

Authors' response to Finsterer and Zarrouk-Mahjoub's comments.

Parikh S, Zhu CC, Traboulsi EI.

Ophthalmic Genet. 2017 May-Jun;38(3):299. doi: 10.1080/13816810.2016.1193882. Epub 2016 Jul 21. No abstract available.

PMID:
27442076
18.

Cohen Syndrome.

Wang H, Falk MJ, Wensel C, Traboulsi EI.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2006 Aug 29 [updated 2016 Jul 21].

19.

Associated systemic and ocular disorders in patients with congenital unilateral cataracts: the Infant Aphakia Treatment Study experience.

Traboulsi EI, Vanderveen D, Morrison D, Drews-Botsch CD, Lambert SR; Infant Aphakia Treatment Study Group.

Eye (Lond). 2016 Sep;30(9):1170-4. doi: 10.1038/eye.2016.124. Epub 2016 Jun 17.

20.

Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome.

Ansari M, Rainger J, Hanson IM, Williamson KA, Sharkey F, Harewood L, Sandilands A, Clayton-Smith J, Dollfus H, Bitoun P, Meire F, Fantes J, Franco B, Lorenz B, Taylor DS, Stewart F, Willoughby CE, McEntagart M, Khaw PT, Clericuzio C, Van Maldergem L, Williams D, Newbury-Ecob R, Traboulsi EI, Silva ED, Madlom MM, Goudie DR, Fleck BW, Wieczorek D, Kohlhase J, McTrusty AD, Gardiner C, Yale C, Moore AT, Russell-Eggitt I, Islam L, Lees M, Beales PL, Tuft SJ, Solano JB, Splitt M, Hertz JM, Prescott TE, Shears DJ, Nischal KK, Doco-Fenzy M, Prieur F, Temple IK, Lachlan KL, Damante G, Morrison DA, van Heyningen V, FitzPatrick DR.

PLoS One. 2016 Apr 28;11(4):e0153757. doi: 10.1371/journal.pone.0153757. eCollection 2016.

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