Elias I Traboulsi

Elias I Traboulsi

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Elias I Traboulsi

Elias I Traboulsi

Publications by authors named "Elias I Traboulsi"

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Stickler syndrome: exploring prophylaxis for retinal detachment.

Curr Opin Ophthalmol 2019 Sep;30(5):306-313

Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, Ohio, USA.

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http://dx.doi.org/10.1097/ICU.0000000000000599DOI Listing
September 2019

Through the looking glass: eye anomalies in the age of molecular science.

Hum Genet 2019 Sep 7;138(8-9):795-798. Epub 2019 Aug 7.

Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, OX3 0BP, UK.

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http://dx.doi.org/10.1007/s00439-019-02056-yDOI Listing
September 2019

Retinal dystrophy associated with a Kizuna () mutation and a predominantly macular phenotype.

Ophthalmic Genet 2019 Sep 26:1-6. Epub 2019 Sep 26.

Cole Eye Institute, Cleveland Clinic Foundation , Cleveland , OH , USA.

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http://dx.doi.org/10.1080/13816810.2019.1666880DOI Listing
September 2019

Outcomes of Unilateral Cataracts in Infants and Toddlers 7 to 24 Months of Age: Toddler Aphakia and Pseudophakia Study (TAPS).

Ophthalmology 2019 Aug 14;126(8):1189-1195. Epub 2019 Mar 14.

Department of Ophthalmology, Emory University School of Medicine, Atlanta, Georgia; Departments of Ophthalmology and Pediatrics, Stanford University Medical Center, Palo Alto, California.

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http://dx.doi.org/10.1016/j.ophtha.2019.03.011DOI Listing
August 2019

Survey of practice patterns for the management of ophthalmic genetic disorders among AAPOS members: report by the AAPOS Genetic Eye Disease Task Force.

J AAPOS 2019 Aug 21;23(4):226-228.e1. Epub 2019 Jun 21.

Pediatric Ophthalmology and Strabismus, Center for Genetic Eye Diseases, Cole Eye Institute, Cleveland, Ohio; Center for Graduate Medical Education, Education Institute, Cleveland Clinic, Cleveland, Ohio.

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http://dx.doi.org/10.1016/j.jaapos.2019.04.005DOI Listing
August 2019

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

JAMA Ophthalmol 2019 Apr;137(4):355-357

Center for Genetic Eye Diseases, Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio.

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http://dx.doi.org/10.1001/jamaophthalmol.2018.5638DOI Listing
April 2019

Evidence of retinal degeneration in Wolfram syndrome.

Ophthalmic Genet 2019 Feb 3;40(1):34-38. Epub 2018 Dec 3.

b Cole Eye Institute , Cleveland Clinic , Cleveland , OH , USA.

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http://dx.doi.org/10.1080/13816810.2018.1551494DOI Listing
February 2019

Gene therapy for RPE65-related retinal disease.

Ophthalmic Genet 2018 12 18;39(6):671-677. Epub 2018 Oct 18.

c Cleveland Clinic , Cole Eye Institute , Cleveland , OH , USA.

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https://www.tandfonline.com/doi/full/10.1080/13816810.2018.1
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http://dx.doi.org/10.1080/13816810.2018.1533027DOI Listing
December 2018

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

Ophthalmic Genet 2018 10 9;39(5):657-658. Epub 2018 Jul 9.

c Cole Eye Institute , Center for Genetic Eye Diseases , Cleveland , OH , USA.

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http://dx.doi.org/10.1080/13816810.2018.1495746DOI Listing
October 2018

ELLIPSOID ZONE MAPPING AND OUTER RETINAL ASSESSMENT IN STARGARDT DISEASE.

Retina 2018 07;38(7):1427-1431

Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio.

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http://dx.doi.org/10.1097/IAE.0000000000001716DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5718981PMC
July 2018

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

Am J Hum Genet 2018 07 7;103(1):115-124. Epub 2018 Jun 7.

Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA; Broad Institute of M.I.T. and Harvard, Cambridge, MA 02142, USA; Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA; Department Ophthalmology, Boston Children's Hospital, Boston, MA 02115, USA; Department of Ophthalmology, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.05.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6035164PMC
July 2018

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

Mol Genet Genomics 2018 Jun 10;293(3):699-710. Epub 2018 Jan 10.

Center for Genetic Eye Diseases, Cleveland Clinic Cole Eye Institute, Cleveland, OH, 44195, USA.

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http://dx.doi.org/10.1007/s00438-018-1417-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5949075PMC
June 2018

Words of Uncertain Significance.

Ophthalmol Retina 2018 05 2;2(5):387-388. Epub 2018 May 2.

Center for Genetic Eye Diseases, Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio.

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http://dx.doi.org/10.1016/j.oret.2018.01.011DOI Listing
May 2018

Orbital rhabdomyosarcoma in a child with Leigh syndrome.

J AAPOS 2018 04 20;22(2):150-152.e1. Epub 2017 Dec 20.

Department of Ophthalmology, Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio.

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https://linkinghub.elsevier.com/retrieve/pii/S10918531173031
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http://dx.doi.org/10.1016/j.jaapos.2017.09.006DOI Listing
April 2018

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

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

a Cleveland Clinic Foundation , Cole Eye Institute , Cleveland , OH , USA.

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http://dx.doi.org/10.1080/13816810.2017.1373831DOI Listing
March 2018

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

Ophthalmic Genet 2017 May-Jun;38(3):299. Epub 2016 Jul 21.

c Cleveland Clinic, Cole Eye Institute, Center for Genetic Eye Diseases , Cleveland , Ohio , USA.

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http://dx.doi.org/10.1080/13816810.2016.1193882DOI Listing
January 2018

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

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

a Cole Eye Institute, Cleveland Clinic , Cleveland , Ohio , USA.

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http://dx.doi.org/10.1080/13816810.2016.1227450DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6186264PMC
December 2017

Ophthalmological findings in 74 patients with mitochondrial disease.

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

a Cleveland Clinic , Center for Pediatric Neurology , Cleveland , Ohio , USA.

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http://dx.doi.org/10.3109/13816810.2015.1130153DOI Listing
November 2017

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

Ophthalmic Genet 2017 Jan-Feb;38(1):98-100. Epub 2016 Apr 6.

a Cole Eye Institute, Cleveland Clinic , Cleveland , Ohio , USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5053867PMC
http://dx.doi.org/10.3109/13816810.2015.1137328DOI Listing
November 2017

Molecular biology and genetics of embryonic eyelid development.

Ophthalmic Genet 2016 09 11;37(3):252-9. Epub 2016 Feb 11.

a Cleveland Clinic Cole Eye Institute , Cleveland , Ohio , USA.

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http://dx.doi.org/10.3109/13816810.2015.1071409DOI Listing
September 2016

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

Am J Ophthalmol 2016 Mar 24;163:108-114.e1. Epub 2015 Nov 24.

Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio. Electronic address:

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http://dx.doi.org/10.1016/j.ajo.2015.11.026DOI Listing
March 2016

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

Am J Ophthalmol 2016 Jan 24;161:56-64.e1. Epub 2015 Oct 24.

Ocular Biomechanics & Imaging Laboratory, Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, Ohio; Department of Biomedical Engineering, Case Western Reserve University, Cleveland, Ohio; Department of Biomedical Engineering, Cleveland Clinic Lerner Research Institute, Cleveland, Ohio. Electronic address:

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http://dx.doi.org/10.1016/j.ajo.2015.09.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4690773PMC
January 2016

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

Graefes Arch Clin Exp Ophthalmol 2015 Dec 23;253(12):2161-9. Epub 2015 Jul 23.

Cole Eye Institute, Cleveland Clinic, Ophthalmic Research - i31, 9500 Euclid Avenue, Cleveland, OH, 44195, USA.

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http://dx.doi.org/10.1007/s00417-015-3099-7DOI Listing
December 2015

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

Hum Mutat 2015 Jul 20;36(7):720-7. Epub 2015 May 20.

Center for Genetic Eye Diseases and Department of Ophthalmic Research, Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, Ohio.

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http://dx.doi.org/10.1002/humu.22807DOI Listing
July 2015

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

Ophthalmic Plast Reconstr Surg 2014 Nov-Dec;30(6):e159-61

*Cole Eye Institute, Cleveland Clinic; †Center for Human Genetics, University Hospitals Case Medical Center; and ‡Cleveland Clinic Children's Hospital, Cleveland, Ohio, U.S.A.

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http://dx.doi.org/10.1097/IOP.0000000000000003DOI Listing
May 2015

Bilateral conjunctival follicular lymphoma in a child.

J AAPOS 2015 Apr 29;19(2):183-5. Epub 2015 Mar 29.

Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio. Electronic address:

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http://dx.doi.org/10.1016/j.jaapos.2014.10.030DOI Listing
April 2015

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

Ophthalmology 2014 Oct 7;121(10):2066-9. Epub 2014 Jun 7.

Department of Ophthalmology, Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, Ohio; Executive Administration, Cleveland Clinic Foundation, Cleveland Clinic Abu Dhabi, Abu Dhabi, United Arab Emirates. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2014.04.028DOI Listing
October 2014

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

J AAPOS 2014 Oct 27;18(5):441-5. Epub 2014 Sep 27.

Department of Pediatric Ophthalmology and Strabismus, Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, Ohio.

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http://dx.doi.org/10.1016/j.jaapos.2014.06.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4547783PMC
October 2014

Mutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, or Traboulsi syndrome.

Am J Hum Genet 2014 May 24;94(5):755-9. Epub 2014 Apr 24.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297140017
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http://dx.doi.org/10.1016/j.ajhg.2014.04.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4067561PMC
May 2014

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

Br J Ophthalmol 2014 Apr 23;98(4):513-8. Epub 2014 Jan 23.

Abrahamson Eye Institute, Cincinnati Children's Hospital Medical Center, , Cincinnati, Ohio, USA.

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http://dx.doi.org/10.1136/bjophthalmol-2013-304270DOI Listing
April 2014

Surgical management of lens subluxation in Marfan syndrome.

J AAPOS 2014 Apr;18(2):140-6

The Cole Eye Institute, Ophthalmology, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, Cleveland, Ohio. Electronic address:

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http://dx.doi.org/10.1016/j.jaapos.2013.12.007DOI Listing
April 2014

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

Invest Ophthalmol Vis Sci 2013 Dec 23;54(13):8337-44. Epub 2013 Dec 23.

Department of Biomedical Engineering, Lerner Research Institute, Cleveland Clinic Foundation, Cleveland, Ohio.

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http://dx.doi.org/10.1167/iovs.13-13121DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3875392PMC
December 2013

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

Curr Neurol Neurosci Rep 2013 Jul;13(7):363

Department of Pediatric Ophthalmology and Strabismus and the Center for Genetic Eye Diseases, Cole Eye Institute, Cleveland Clinic Foundation, 9500 Euclid Ave, i13, Cleveland, OH 44195, USA.

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http://dx.doi.org/10.1007/s11910-013-0363-2DOI Listing
July 2013

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

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

Center for Pediatric Neurology, Neurological Institute, Cleveland Clinic, Cleveland, OH 44195, USA.

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http://dx.doi.org/10.1177/0883073812446631DOI Listing
April 2013

Childhood retinal dystrophies: what's in a name?

Br J Ophthalmol 2013 Mar 13;97(3):247. Epub 2012 Dec 13.

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http://dx.doi.org/10.1136/bjophthalmol-2012-302703DOI Listing
March 2013

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

Br J Ophthalmol 2013 Feb 30;97(2):184-8. Epub 2012 Nov 30.

Kresge Eye Institute, Wayne State University, Detroit, Michigan, USA.

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http://dx.doi.org/10.1136/bjophthalmol-2012-301485DOI Listing
February 2013

Ocular manifestations of the autoinflammatory syndromes.

Ophthalmic Genet 2012 Dec 27;33(4):179-86. Epub 2012 Aug 27.

Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, OH 44195, USA.

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http://dx.doi.org/10.3109/13816810.2012.695421DOI Listing
December 2012

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

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

Cole Eye Institute, Cleveland Clinic, Cleveland, OH, USA.

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http://dx.doi.org/10.3109/13816810.2011.610860DOI Listing
September 2012

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

Ophthalmology 2012 Sep 16;119(9):1917-23. Epub 2012 May 16.

Department of Ophthalmic Oncology, Cole Eye Institute, Cleveland Clinic Foundation, 9500 Euclid Avenue, Cleveland, OH 44195, USA.

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http://dx.doi.org/10.1016/j.ophtha.2012.03.020DOI Listing
September 2012

Pigmented and depigmented lesions of the ocular fundus.

Curr Opin Ophthalmol 2012 Sep;23(5):337-43

Department of Pediatric Ophthalmology and Strabismus, Center for Genetic Eye Diseases, Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio 44195, USA.

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http://dx.doi.org/10.1097/ICU.0b013e32835622b0DOI Listing
September 2012

Choroideremia: a review of general findings and pathogenesis.

Ophthalmic Genet 2012 Jun 21;33(2):57-65. Epub 2011 Oct 21.

Faculty of Medicine, McGill University, Montreal, Quebec, Canada.

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http://dx.doi.org/10.3109/13816810.2011.620056DOI Listing
June 2012

Choroideremia: effect of age on visual acuity in patients and female carriers.

Ophthalmic Genet 2012 Jun 7;33(2):66-73. Epub 2011 Nov 7.

Faculty of Medicine, McGill University, Montreal, Quebec, Canada.

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http://dx.doi.org/10.3109/13816810.2011.623261DOI Listing
June 2012

Building an innovative model for personalized healthcare.

Cleve Clin J Med 2012 Apr;79 Suppl 1:S1-9

Center for Personalized Healthcare, Cleveland Clinic, 9500 Euclid Avenue, NE50, Cleveland, OH 44195, USA.

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http://dx.doi.org/10.3949/ccjm.79.s1.01DOI Listing
April 2012

Unilateral rectus muscle recession in the treatment of Duane syndrome.

J AAPOS 2012 Apr;16(2):145-9

Stony Brook University Hospital, Stony Brook, New York, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S109185311200092
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http://dx.doi.org/10.1016/j.jaapos.2011.11.012DOI Listing
April 2012

ADAMTSL4, a secreted glycoprotein widely distributed in the eye, binds fibrillin-1 microfibrils and accelerates microfibril biogenesis.

Invest Ophthalmol Vis Sci 2012 Jan 31;53(1):461-9. Epub 2012 Jan 31.

Departments of Biomedical Engineering, Lerner Research Institute, Cleveland Clinic, 9500 Euclid Avenue, Cleveland, OH 44195, USA.

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http://dx.doi.org/10.1167/iovs.10-5955DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3292378PMC
January 2012

Slipped, severed, torn and lost extraocular muscles.

Can J Ophthalmol 2011 Dec;46(6):501-9

Department of Ophthalmology, American University of Beirut Medical Center, Beirut, Lebanon.

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http://dx.doi.org/10.1016/j.jcjo.2011.09.023DOI Listing
December 2011

Efficacy of the intraoperative relaxed muscle positioning technique in thyroid eye disease and analysis of cases requiring reoperation.

J AAPOS 2011 Aug 20;15(4):321-5. Epub 2011 Jul 20.

Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio 44195, USA.

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http://dx.doi.org/10.1016/j.jaapos.2011.03.014DOI Listing
August 2011

Oculodentodigital dysplasia: new ocular findings and a novel connexin 43 mutation.

Arch Ophthalmol 2011 Jun;129(6):781-4

Cole Eye Institute, Cleveland Clinic, Cleveland, OH 44195, USA.

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http://dx.doi.org/10.1001/archophthalmol.2011.113DOI Listing
June 2011

ADAMTS10 protein interacts with fibrillin-1 and promotes its deposition in extracellular matrix of cultured fibroblasts.

J Biol Chem 2011 May 14;286(19):17156-67. Epub 2011 Mar 14.

Department of Biomedical Engineering, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio 44195, USA.

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http://dx.doi.org/10.1074/jbc.M111.231571DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3089559PMC
May 2011

Performance of patients with deficient stereoacuity on the EYESi microsurgical simulator.

Am J Ophthalmol 2011 Mar 13;151(3):427-33.e1. Epub 2011 Jan 13.

The Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio 44195, USA.

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http://dx.doi.org/10.1016/j.ajo.2010.09.011DOI Listing
March 2011

Diagnostic and therapeutic challenges.

Retina 2011 Feb;31(2):413-8

epartment of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, Illinois, USA.

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http://dx.doi.org/10.1097/IAE.0b013e3181dc58dbDOI Listing
February 2011

Genetic diagnostic methods for inherited eye diseases.

Middle East Afr J Ophthalmol 2011 Jan;18(1):24-9

Department of Pediatric Ophthalmology and Strabismus and the Center for Genetic Eye Diseases, Cole Eye Institute, Cleveland Clinic, Cleveland, USA.

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http://dx.doi.org/10.4103/0974-9233.75881DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3085148PMC
January 2011

Duane syndrome in the setting of chromosomal duplications.

Am J Ophthalmol 2010 Dec 8;150(6):932-8. Epub 2010 Oct 8.

Case Western Reserve University, School of Medicine, Cleveland, Ohio 44195, USA.

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http://dx.doi.org/10.1016/j.ajo.2010.06.030DOI Listing
December 2010

Astrocytic hamartoma of the optic disc and multiple café-au-lait macules in a child with neurofibromatosis type 2.

Ophthalmic Genet 2010 Dec;31(4):209-14

Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio 44195, USA.

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http://dx.doi.org/10.3109/13816810.2010.512356DOI Listing
December 2010

Genetic defects of GDF6 in the zebrafish out of sight mutant and in human eye developmental anomalies.

BMC Genet 2010 Nov 11;11:102. Epub 2010 Nov 11.

Division of Craniofacial and Molecular Genetics, Tufts University, 136 Harrison Ave, Boston MA 02111, USA.

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http://dx.doi.org/10.1186/1471-2156-11-102DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2992036PMC
November 2010

Periocular granuloma annulare in four children.

J AAPOS 2010 Jun 5;14(3):280-2. Epub 2010 May 5.

Department of Ophthalmology, University of Minnesota, Minneapolis, Minnesota, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S109185311000169
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http://dx.doi.org/10.1016/j.jaapos.2010.02.004DOI Listing
June 2010

Unilateral megalopapilla and contralateral optic nerve hypoplasia: a case report and review of the literature.

J AAPOS 2010 Feb 31;14(1):83-4. Epub 2009 Dec 31.

Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota, USA.

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http://dx.doi.org/10.1016/j.jaapos.2009.10.007DOI Listing
February 2010

Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions.

J AAPOS 2009 Dec;13(6):587-92

F.M. Kirby Center for Molecular Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1016/j.jaapos.2009.10.004DOI Listing
December 2009

Hope and major strides for genetic diseases of the eye.

J Genet 2009 Dec;88(4):395-7

Cole Eye Institute, Cleveland Clinic I32, Cleveland, OH 44195, USA.

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http://dx.doi.org/10.1007/s12041-009-0060-8DOI Listing
December 2009

Lacrimal sac compression, not massage.

J Pediatr Ophthalmol Strabismus 2009 Jul-Aug;46(4):252

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November 2009

Maculopathy Due to Cobalamin C (cb1C) Disease in an Amish Child.

J Pediatr Ophthalmol Strabismus 2009 Oct 2. Epub 2009 Oct 2.

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http://dx.doi.org/10.3928/01913913-20090918-10DOI Listing
October 2009

Morning glory disk anomaly--more than meets the eye.

J AAPOS 2009 Aug;13(4):333-4

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http://dx.doi.org/10.1016/j.jaapos.2009.05.015DOI Listing
August 2009

Coats' disease, megalopapilla and Cornelia de Lange syndrome.

Ophthalmic Genet 2009 Jun;30(2):106-8

Cleveland Clinic Foundation, Cleveland Clinic, Cole Eye Institute, Cleveland, Ohio 44195, USA.

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http://dx.doi.org/10.1080/13816810902744613DOI Listing
June 2009

Sequence alterations in RX in patients with microphthalmia, anophthalmia, and coloboma.

Mol Vis 2009 21;15:162-7. Epub 2009 Jan 21.

Case Western Reserve University School of Medicine, Cleveland, OH, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2628315PMC
May 2009

Novel ABCA4 compound heterozygous mutations cause severe progressive autosomal recessive cone-rod dystrophy presenting as Stargardt disease.

Mol Vis 2009 3;15:638-45. Epub 2009 Apr 3.

Department of Molecular Cardiology, Center for Cardiovascular Genetics, Lerner Research Institute, The Cleveland Clinic, Cleveland, OH, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2665199PMC
May 2009

Functional analysis of an ADAMTS10 signal peptide mutation in Weill-Marchesani syndrome demonstrates a long-range effect on secretion of the full-length enzyme.

Hum Mutat 2008 Dec;29(12):1425-34

Department of Biomedical Engineering and Orthopaedic Research Center, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio 44195, USA.

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http://dx.doi.org/10.1002/humu.20797DOI Listing
December 2008

Aicardi syndrome in a genotypic male.

Ophthalmic Genet 2008 Dec;29(4):181-3

Cleveland Clinic, Cole Eye Institute, Cleveland 44195, USA.

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http://dx.doi.org/10.1080/13816810802320209DOI Listing
December 2008

CNGA3 mutations in two United Arab Emirates families with achromatopsia.

Mol Vis 2008 Jul 10;14:1293-7. Epub 2008 Jul 10.

Center for Genetic Eye Diseases, Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, OH, USA.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2464613PMC
July 2008

Descemet stripping automated endothelial keratoplasty in a 2-year-old child.

J AAPOS 2008 Jun;12(3):317-8

Cole Eye Institute, Cleveland Clinic, Cleveland, OH 44195, USA.

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Source
http://linkinghub.elsevier.com/retrieve/pii/S109185310800152
Publisher Site
http://dx.doi.org/10.1016/j.jaapos.2008.04.007DOI Listing
June 2008