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Items: 1 to 50 of 275

1.

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.

PMID:
29335108
2.

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 Jan 10. doi: 10.1007/s00438-018-1417-6. [Epub ahead of print]

PMID:
29322253
3.

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. 2017 Dec 20. pii: S1091-8531(17)30319-1. doi: 10.1016/j.jaapos.2017.09.006. [Epub ahead of print] No abstract available.

PMID:
29274371
4.

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
5.

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
6.

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.

PMID:
28638516
7.

ELLIPSOID ZONE MAPPING AND OUTER RETINAL ASSESSMENT IN STARGARDT DISEASE.

Arepalli S, Traboulsi EI, Ehlers JP.

Retina. 2017 Jun 6. doi: 10.1097/IAE.0000000000001716. [Epub ahead of print]

PMID:
28613213
8.

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.

9.

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.

PMID:
27880076
10.

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
11.

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; 1993-2018.
2006 Aug 29 [updated 2016 Jul 21].

12.

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.

13.

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.

14.

Ultra-widefield fundus autofluorescence patterns in retinitis pigmentosa and other retinal dystrophies.

Trichonas G, Traboulsi EI, Ehlers JP.

Ophthalmic Genet. 2017 Jan-Feb;38(1):98-100. doi: 10.3109/13816810.2015.1137328. Epub 2016 Apr 6. No abstract available.

15.

Ophthalmological findings in 74 patients with mitochondrial disease.

Zhu CC, Traboulsi EI, Parikh S.

Ophthalmic Genet. 2017 Jan-Feb;38(1):67-69. doi: 10.3109/13816810.2015.1130153. Epub 2016 Mar 30.

PMID:
27029465
16.

Molecular biology and genetics of embryonic eyelid development.

Rubinstein TJ, Weber AC, Traboulsi EI.

Ophthalmic Genet. 2016 Sep;37(3):252-9. doi: 10.3109/13816810.2015.1071409. Epub 2016 Feb 11. Review.

PMID:
26863902
17.

The Natural History of the Progression of Atrophy Secondary to Stargardt Disease (ProgStar) Studies: Design and Baseline Characteristics: ProgStar Report No. 1.

Strauss RW, Ho A, Muñoz B, Cideciyan AV, Sahel JA, Sunness JS, Birch DG, Bernstein PS, Michaelides M, Traboulsi EI, Zrenner E, Sadda S, Ervin AM, West S, Scholl HP; Progression of Stargardt Disease Study Group.

Ophthalmology. 2016 Apr;123(4):817-28. doi: 10.1016/j.ophtha.2015.12.009. Epub 2016 Jan 16.

PMID:
26786511
18.

The Use of a Mobile Van for School Vision Screening: Results of 63 841 Evaluations.

Griffith JF, Wilson R, Cimino HC, Patthoff M, Martin DF, Traboulsi EI.

Am J Ophthalmol. 2016 Mar;163:108-114.e1. doi: 10.1016/j.ajo.2015.11.026. Epub 2015 Nov 24.

PMID:
26621684
19.

Corneal Deformation Response and Ocular Geometry: A Noninvasive Diagnostic Strategy in Marfan Syndrome.

Beene LC, Traboulsi EI, Seven I, Ford MR, Sinha Roy A, Butler RS, Dupps WJ Jr.

Am J Ophthalmol. 2016 Jan;161:56-64.e1. doi: 10.1016/j.ajo.2015.09.027. Epub 2015 Oct 24.

20.

Retinal histopathology in eyes from patients with autosomal dominant retinitis pigmentosa caused by rhodopsin mutations.

Bonilha VL, Rayborn ME, Bell BA, Marino MJ, Beight CD, Pauer GJ, Traboulsi EI, Hollyfield JG, Hagstrom SA.

Graefes Arch Clin Exp Ophthalmol. 2015 Dec;253(12):2161-9. doi: 10.1007/s00417-015-3099-7. Epub 2015 Jul 23.

PMID:
26202387
21.

A Novel KCNJ13 Nonsense Mutation and Loss of Kir7.1 Channel Function Causes Leber Congenital Amaurosis (LCA16).

Pattnaik BR, Shahi PK, Marino MJ, Liu X, York N, Brar S, Chiang J, Pillers DA, Traboulsi EI.

Hum Mutat. 2015 Jul;36(7):720-7. doi: 10.1002/humu.22807. Epub 2015 May 20.

PMID:
25921210
22.

Bilateral conjunctival follicular lymphoma in a child.

Wall PB, Traboulsi EI, Hsi ED, Singh AD.

J AAPOS. 2015 Apr;19(2):183-5. doi: 10.1016/j.jaapos.2014.10.030. Epub 2015 Mar 29.

PMID:
25824110
23.

Histopathology of the Retina from a Three Year-Old Suspected to Have Joubert Syndrome.

Bonilha VL, Rayborn ME, Bell BA, Marino MJ, Traboulsi EI, Hagstrom SA, Hollyfield JG.

Austin J Clin Ophthalmol. 2015;2(4). pii: 1057. Epub 2015 Sep 21.

24.

Histopathological comparison of eyes from patients with autosomal recessive retinitis pigmentosa caused by novel EYS mutations.

Bonilha VL, Rayborn ME, Bell BA, Marino MJ, Pauer GJ, Beight CD, Chiang J, Traboulsi EI, Hollyfield JG, Hagstrom SA.

Graefes Arch Clin Exp Ophthalmol. 2015 Feb;253(2):295-305. doi: 10.1007/s00417-014-2868-z. Epub 2014 Dec 11.

PMID:
25491159
25.

The effects of surgical factors on postoperative astigmatism in patients enrolled in the Infant Aphakia Treatment Study (IATS).

Wall PB, Lee JA, Lynn MJ, Lambert SR, Traboulsi EI; Infant Aphakia Treatment Study Group.

J AAPOS. 2014 Oct;18(5):441-5. doi: 10.1016/j.jaapos.2014.06.016. Epub 2014 Sep 27.

26.

Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations.

Robitaille JM, Gillett RM, LeBlanc MA, Gaston D, Nightingale M, Mackley MP, Parkash S, Hathaway J, Thomas A, Ells A, Traboulsi EI, Héon E, Roy M, Shalev S, Fernandez CV, MacGillivray C, Wallace K, Fahiminiya S, Majewski J, McMaster CR, Bedard K.

JAMA Ophthalmol. 2014 Dec;132(12):1393-9. doi: 10.1001/jamaophthalmol.2014.2814.

PMID:
25124931
27.

Severe neutropenia presenting with Candida albicans eyelid abscess in a 1-year-old child.

Costin BR, Traboulsi EI, Foster JA, Perry JD.

Ophthal Plast Reconstr Surg. 2014 Jul-Aug;30(4):356. doi: 10.1097/IOP.0000000000000203. No abstract available.

PMID:
25069078
28.

Outcomes of strabismus surgery with or without trainee participation as surgeon.

Mehta VJ, Utz VM, Traboulsi EI, Rychwalski PJ.

Ophthalmology. 2014 Oct;121(10):2066-9. doi: 10.1016/j.ophtha.2014.04.028. Epub 2014 Jun 7.

PMID:
24913284
29.

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.

Am J Hum Genet. 2014 May 1;94(5):755-9. doi: 10.1016/j.ajhg.2014.04.002. Epub 2014 Apr 24.

30.

Surgical management of lens subluxation in Marfan syndrome.

Miraldi Utz V, Coussa RG, Traboulsi EI.

J AAPOS. 2014 Apr;18(2):140-6. doi: 10.1016/j.jaapos.2013.12.007.

PMID:
24698610
31.

Severe neutropenia presenting with Candida albicans eyelid abscess in a 1-year-old child.

Costin BR, Costin CE, Wall PB, McClintic JI, Foster CB, Hackney LR, Traboulsi EI, Perry JD.

Ophthal Plast Reconstr Surg. 2014 Nov-Dec;30(6):e159-61. doi: 10.1097/IOP.0000000000000003.

PMID:
24608326
32.

Retinal Dystrophy with Intraretinal Cystoid Spaces Associated with Mutations in the Crumbs Homologue (CRB1) Gene.

Cordovez JA, Traboulsi EI, Capasso JE, Sadagopan KA, Ganesh A, Rychwalski PJ, Neely KA, Brodie SE, Levin AV.

Ophthalmic Genet. 2015;36(3):257-64. doi: 10.3109/13816810.2014.881505.

PMID:
24512366
33.

Predictors of visual acuity and genotype-phenotype correlates in a cohort of patients with Stargardt disease.

Miraldi Utz V, Coussa RG, Marino MJ, Chappelow AV, Pauer GJ, Hagstrom SA, Traboulsi EI.

Br J Ophthalmol. 2014 Apr;98(4):513-8. doi: 10.1136/bjophthalmol-2013-304270. Epub 2014 Jan 23.

PMID:
24457364
34.

Nonselective assembly of fibrillin 1 and fibrillin 2 in the rodent ocular zonule and in cultured cells: implications for Marfan syndrome.

Beene LC, Wang LW, Hubmacher D, Keene DR, Reinhardt DP, Annis DS, Mosher DF, Mecham RP, Traboulsi EI, Apte SS.

Invest Ophthalmol Vis Sci. 2013 Dec 23;54(13):8337-44. doi: 10.1167/iovs.13-13121.

35.

Diagnostic and therapeutic challenges.

Schoenberger SD, Benegas N, Agarwal A, Traboulsi EI.

Retina. 2014 Jul;34(7):1481-4. doi: 10.1097/IAE.0000000000000029. No abstract available.

PMID:
24240561
36.

Identification of three ABCA4 sequence variations exclusive to African American patients in a cohort of patients with Stargardt disease.

Utz VM, Chappelow AV, Marino MJ, Beight CD, Sturgill-Short GM, Pauer GJ, Crowe S, Hagstrom SA, Traboulsi EI.

Am J Ophthalmol. 2013 Dec;156(6):1220-1227.e2. doi: 10.1016/j.ajo.2013.07.008. Epub 2013 Sep 4.

PMID:
24011517
37.

Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.

Wang X, Wang H, Sun V, Tuan HF, Keser V, Wang K, Ren H, Lopez I, Zaneveld JE, Siddiqui S, Bowles S, Khan A, Salvo J, Jacobson SG, Iannaccone A, Wang F, Birch D, Heckenlively JR, Fishman GA, Traboulsi EI, Li Y, Wheaton D, Koenekoop RK, Chen R.

J Med Genet. 2013 Oct;50(10):674-88. doi: 10.1136/jmedgenet-2013-101558. Epub 2013 Jul 11.

38.

Congenital abnormalities of the optic nerve: from gene mutation to clinical expression.

Wall PB, Traboulsi EI.

Curr Neurol Neurosci Rep. 2013 Jul;13(7):363. doi: 10.1007/s11910-013-0363-2. Review.

PMID:
23703240
39.

Visual acuity changes in patients with leber congenital amaurosis and mutations in CEP290.

McAnany JJ, Genead MA, Walia S, Drack AV, Stone EM, Koenekoop RK, Traboulsi EI, Smith A, Weleber RG, Jacobson SG, Fishman GA.

JAMA Ophthalmol. 2013 Feb;131(2):178-82. doi: 10.1001/2013.jamaophthalmol.354.

40.

Autosomal dominant retinitis pigmentosa secondary to pre-mRNA splicing-factor gene PRPF31 (RP11): review of disease mechanism and report of a family with a novel 3-base pair insertion.

Utz VM, Beight CD, Marino MJ, Hagstrom SA, Traboulsi EI.

Ophthalmic Genet. 2013 Dec;34(4):183-8. doi: 10.3109/13816810.2012.762932. Epub 2013 Jan 23. Review.

PMID:
23343310
41.

Childhood retinal dystrophies: what's in a name?

Traboulsi EI.

Br J Ophthalmol. 2013 Mar;97(3):247. doi: 10.1136/bjophthalmol-2012-302703. Epub 2012 Dec 13. No abstract available.

PMID:
23242674
42.

Comparison of inferior oblique myectomy to recession for the treatment of superior oblique palsy.

Bahl RS, Marcotty A, Rychwalski PJ, Traboulsi EI.

Br J Ophthalmol. 2013 Feb;97(2):184-8. doi: 10.1136/bjophthalmol-2012-301485. Epub 2012 Nov 30.

PMID:
23203704
43.

Ocular manifestations of the autoinflammatory syndromes.

Tarabishy AB, Hise AG, Traboulsi EI.

Ophthalmic Genet. 2012 Dec;33(4):179-86. doi: 10.3109/13816810.2012.695421. Epub 2012 Aug 27. Review.

PMID:
22924780
44.

Pigmented and depigmented lesions of the ocular fundus.

Traboulsi EI.

Curr Opin Ophthalmol. 2012 Sep;23(5):337-43. doi: 10.1097/ICU.0b013e32835622b0. Review.

PMID:
22847029
45.

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.

Koenekoop RK, Wang H, Majewski J, Wang X, Lopez I, Ren H, Chen Y, Li Y, Fishman GA, Genead M, Schwartzentruber J, Solanki N, Traboulsi EI, Cheng J, Logan CV, McKibbin M, Hayward BE, Parry DA, Johnson CA, Nageeb M; Finding of Rare Disease Genes (FORGE) Canada Consortium, Poulter JA, Mohamed MD, Jafri H, Rashid Y, Taylor GR, Keser V, Mardon G, Xu H, Inglehearn CF, Fu Q, Toomes C, Chen R.

Nat Genet. 2012 Sep;44(9):1035-9. doi: 10.1038/ng.2356. Epub 2012 Jul 29.

46.

Neonatal stroke and progressive leukoencephalopathy in a child with an ACTA2 mutation.

Moosa AN, Traboulsi EI, Reid J, Prieto L, Moran R, Friedman NR.

J Child Neurol. 2013 Apr;28(4):531-4. doi: 10.1177/0883073812446631. Epub 2012 Jun 29.

PMID:
22752479
47.

Tuberous sclerosis complex: genotype/phenotype correlation of retinal findings.

Aronow ME, Nakagawa JA, Gupta A, Traboulsi EI, Singh AD.

Ophthalmology. 2012 Sep;119(9):1917-23. doi: 10.1016/j.ophtha.2012.03.020. Epub 2012 May 16.

PMID:
22608477
48.

Unilateral rectus muscle recession in the treatment of Duane syndrome.

Natan K, Traboulsi EI.

J AAPOS. 2012 Apr;16(2):145-9. doi: 10.1016/j.jaapos.2011.11.012.

PMID:
22525170
49.

Building an innovative model for personalized healthcare.

Teng K, Eng C, Hess CA, Holt MA, Moran RT, Sharp RR, Traboulsi EI.

Cleve Clin J Med. 2012 Apr;79 Suppl 1:S1-9. doi: 10.3949/ccjm.79.s1.01. No abstract available.

PMID:
22492701
50.

Ophthalmologic abnormalities in Mowat-Wilson syndrome and a mutation in ZEB2.

Ariss M, Natan K, Friedman N, Traboulsi EI.

Ophthalmic Genet. 2012 Sep;33(3):159-60. doi: 10.3109/13816810.2011.610860. Epub 2012 Apr 9.

PMID:
22486326

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