PubMed

The Marshall M. Parks Memorial LectureMaking Sense of Early-Onset Childhood Retinal Dystrophies - The Clinical Phenotype of Leber Congenital Amaurosis.

Traboulsi EI.

Br J Ophthalmol. 2009 Oct 12. [Epub ahead of print]PMID: 19825837 [PubMed - as supplied by publisher]Related articles

Orbital cyst: prenatal diagnosis.

Singh AD, Traboulsi EI, Reid J, Patno D, Chapa J, Rodriguez R, Iben S, Schoenfield L.

Ophthalmology. 2009 Oct;116(10):2042-42.e2. No abstract available. PMID: 19800532 [PubMed - indexed for MEDLINE]Related articles

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

Grant LW, McCandless SE, Traboulsi EI.

J Pediatr Ophthalmol Strabismus. 2009 Oct 2:1-3. doi: 10.3928/01913913-20090918-10. [Epub ahead of print]PMID: 19791709 [PubMed - as supplied by publisher]Related articles

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

Traboulsi EI.

J AAPOS. 2009 Aug;13(4):333-4. No abstract available. PMID: 19683183 [PubMed - indexed for MEDLINE]Related articles

Lacrimal sac compression, not massage.

Qian Y, Traboulsi EI.

J Pediatr Ophthalmol Strabismus. 2009 Jul-Aug;46(4):252. No abstract available. PMID: 19673055 [PubMed - indexed for MEDLINE]Related articles

Coats' disease, megalopapilla and Cornelia de Lange syndrome.

Barakat MR, Traboulsi EI, Sears JE.

Ophthalmic Genet. 2009 Jun;30(2):106-8.PMID: 19373684 [PubMed - indexed for MEDLINE]Related articles

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

Xi Q, Li L, Traboulsi EI, Wang QK.

Mol Vis. 2009;15:638-45. Epub 2009 Apr 3.PMID: 19352439 [PubMed - indexed for MEDLINE]Related articlesFree article

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

London NJ, Kessler P, Williams B, Pauer GJ, Hagstrom SA, Traboulsi EI.

Mol Vis. 2009;15:162-7. Epub 2009 Jan 21.PMID: 19158959 [PubMed - indexed for MEDLINE]Related articlesFree article

Aicardi syndrome in a genotypic male.

Chappelow AV, Reid J, Parikh S, Traboulsi EI.

Ophthalmic Genet. 2008 Dec;29(4):181-3.PMID: 19005990 [PubMed - indexed for MEDLINE]Related articles

CNGA3 mutations in two United Arab Emirates families with achromatopsia.

Ahuja Y, Kohl S, Traboulsi EI.

Mol Vis. 2008 Jul 10;14:1293-7.PMID: 18636117 [PubMed - indexed for MEDLINE]Related articlesFree article

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

Jeng BH, Marcotty A, Traboulsi EI.

J AAPOS. 2008 Jun;12(3):317-8.PMID: 18589389 [PubMed - indexed for MEDLINE]Related articles

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

Kutz WE, Wang LW, Dagoneau N, Odrcic KJ, Cormier-Daire V, Traboulsi EI, Apte SS.

Hum Mutat. 2008 Dec;29(12):1425-34.PMID: 18567016 [PubMed - indexed for MEDLINE]Related articles

Update on the morning glory disc anomaly.

Lee BJ, Traboulsi EI.

Ophthalmic Genet. 2008 Jun;29(2):47-52. Review.PMID: 18484308 [PubMed - indexed for MEDLINE]Related articles

Use of Tegaderm for postoperative eye dressing in children.

Lewis C, Traboulsi EI.

J AAPOS. 2008 Aug;12(4):420. Epub 2008 Apr 18.PMID: 18378477 [PubMed - indexed for MEDLINE]Related articles

The value of keratometry and central corneal thickness measurements in the clinical diagnosis of Marfan syndrome.

Heur M, Costin B, Crowe S, Grimm RA, Moran R, Svensson LG, Traboulsi EI.

Am J Ophthalmol. 2008 Jun;145(6):997-1001. Epub 2008 Apr 18.PMID: 18378212 [PubMed - indexed for MEDLINE]Related articles

Giant intracavernous carotid aneurysm presenting as isolated sixth nerve palsy in an infant.

Fu EX, Kosmorsky GS, Traboulsi EI.

Br J Ophthalmol. 2008 Apr;92(4):576-7. No abstract available. PMID: 18369076 [PubMed - indexed for MEDLINE]Related articles

Pituitary stalk duplication in association with moya moya disease and bilateral morning glory disc anomaly - broadening the clinical spectrum of midline defects.

Loddenkemper T, Friedman NR, Ruggieri PM, Marcotty A, Sears J, Traboulsi EI.

J Neurol. 2008 Jun;255(6):885-90. Epub 2008 Mar 20.PMID: 18350354 [PubMed - indexed for MEDLINE]Related articles

The use of microarray technology in deciphering the cause of genetic eye diseases: LOXL1 and exfoliation syndrome.

Traboulsi EI, Sarfarazi M.

Am J Ophthalmol. 2008 Mar;145(3):391-3. No abstract available. PMID: 18282488 [PubMed - indexed for MEDLINE]Related articles

Aniridia with preserved visual function: a report of four cases with no mutations in PAX6.

Traboulsi EI, Ellison J, Sears J, Maumenee IH, Avallone J, Mohney BG.

Am J Ophthalmol. 2008 Apr;145(4):760-4. Epub 2008 Feb 19.PMID: 18243151 [PubMed - indexed for MEDLINE]Related articles

Vision First, a program to detect and treat eye diseases in young children: the first four years.

Traboulsi EI, Cimino H, Mash C, Wilson R, Crowe S, Lewis H.

Trans Am Ophthalmol Soc. 2008;106:179-85; discussion 185-6.PMID: 19277233 [PubMed - indexed for MEDLINE]Related articlesFree article

Syndrome of myelinated retinal nerve fibers, myopia, and amblyopia: a review.

Tarabishy AB, Alexandrou TJ, Traboulsi EI.

Surv Ophthalmol. 2007 Nov-Dec;52(6):588-96. Review.PMID: 18029268 [PubMed - indexed for MEDLINE]Related articles

Hypermetropia and esotropia in myotonic dystrophy.

Bollinger KE, Kattouf V, Arthur B, Weiss AH, Kivlin J, Kerr N, West CE, Kipp M, Traboulsi EI.

J AAPOS. 2008 Feb;12(1):69-71. Epub 2007 Oct 29.PMID: 18029209 [PubMed - indexed for MEDLINE]Related articles

Malignant melanoma of the conjunctiva in children: a review of the international literature 1965-2006.

Taban M, Traboulsi EI.

J Pediatr Ophthalmol Strabismus. 2007 Sep-Oct;44(5):277-82; quiz 298-9. Review.PMID: 17913169 [PubMed - indexed for MEDLINE]Related articles

Molecular genetics for the pediatric ophthalmologist.

Bollinger K, Traboulsi EI.

J Pediatr Ophthalmol Strabismus. 2007 Jul-Aug;44(4):209-15; quiz 241-2. Review.PMID: 17694825 [PubMed - indexed for MEDLINE]Related articles

Congenital cranial dysinnervation disorders and more.

Traboulsi EI.

J AAPOS. 2007 Jun;11(3):215-7. No abstract available. PMID: 17572338 [PubMed - indexed for MEDLINE]Related articles

Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1.

Chan WM, Andrews C, Dragan L, Fredrick D, Armstrong L, Lyons C, Geraghty MT, Hunter DG, Yazdani A, Traboulsi EI, Pott JW, Gutowski NJ, Ellard S, Young E, Hanisch F, Koc F, Schnall B, Engle EC.

BMC Genet. 2007 May 18;8:26.PMID: 17511870 [PubMed - indexed for MEDLINE]Related articlesFree article

Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. Online.

Schorderet DF, Tiab L, Gaillard MC, Lorenz B, Klainguti G, Kerrison JB, Traboulsi EI, Munier FL.

Hum Mutat. 2007 May;28(5):525.PMID: 17397053 [PubMed - indexed for MEDLINE]Related articles

Cohen syndrome: report of nine cases and review of the literature, with emphasis on ophthalmic features.

Taban M, Memoracion-Peralta DS, Wang H, Al-Gazali LI, Traboulsi EI.

J AAPOS. 2007 Oct;11(5):431-7. Epub 2007 Mar 26.PMID: 17383910 [PubMed - indexed for MEDLINE]Related articles

Acute idiopathic frosted branch angiitis.

Taban M, Sears JE, Crouch E, Schachat AP, Traboulsi EI.

J AAPOS. 2007 Jun;11(3):286-7. Epub 2007 Jan 25.PMID: 17257872 [PubMed - indexed for MEDLINE]Related articles

Bilateral macular lesions in a 10-year-old girl.

Radhakrishnan S, Bala E, Peachey NS, Lewis H, Traboulsi EI.

Am J Ophthalmol. 2007 Jan;143(1):184-5. Epub 2006 Sep 1.PMID: 17188069 [PubMed - indexed for MEDLINE]Related articles

Introducing a new computer-based test for the clinical evaluation of color discrimination.

Melamud A, Simpson E, Traboulsi EI.

Am J Ophthalmol. 2006 Dec;142(6):953-60. Epub 2006 Sep 1.PMID: 17157581 [PubMed - indexed for MEDLINE]Related articles

Intraoperative relaxed muscle positioning technique for strabismus repair in thyroid eye disease.

Dal Canto AJ, Crowe S, Perry JD, Traboulsi EI.

Ophthalmology. 2006 Dec;113(12):2324-30.PMID: 17157137 [PubMed - indexed for MEDLINE]Related articles

Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation.

Ticho BH, Hilchie-Schmidt C, Egel RT, Traboulsi EI, Howarth RJ, Robinson D.

Ophthalmic Genet. 2006 Dec;27(4):145-9.PMID: 17148041 [PubMed - indexed for MEDLINE]Related articles

Lumpers or splitters? The role of molecular diagnosis in Leber congenital amaurosis.

Traboulsi EI, Koenekoop R, Stone EM.

Ophthalmic Genet. 2006 Dec;27(4):113-5.PMID: 17148037 [PubMed - indexed for MEDLINE]Related articles

Association of optic nerve hypoplasia with mitochondrial cytopathies.

Taban M, Cohen BH, David Rothner A, Traboulsi EI.

J Child Neurol. 2006 Nov;21(11):956-60.PMID: 17092461 [PubMed - indexed for MEDLINE]Related articles

Systemic and ocular findings in 100 patients with optic nerve hypoplasia.

Garcia ML, Ty EB, Taban M, David Rothner A, Rogers D, Traboulsi EI.

J Child Neurol. 2006 Nov;21(11):949-56.PMID: 17092460 [PubMed - indexed for MEDLINE]Related articles

Idiopathic macular hypoplasia: a report of four cases and refinement of the phenotype of so-called ateliotic macula.

El Annan J, Marcotty A, Mitchell P, Traboulsi EI.

Eur J Ophthalmol. 2006 Sep-Oct;16(5):741-4.PMID: 17061227 [PubMed - indexed for MEDLINE]Related articles

Polychromasia capsulare (multicolored capsule): report of three families.

Traboulsi EI, Chung D, Koors JM.

Trans Am Ophthalmol Soc. 2005;103:93-7; discussion 97.PMID: 17057792 [PubMed - indexed for MEDLINE]Related articlesFree article

Optic disc coloboma and localized chorioretinal defects in constitutional partial trisomy 8 mosaicism.

Taban M, Marcotty A, Traboulsi EI.

Ophthalmic Genet. 2006 Sep;27(3):103-5.PMID: 17050287 [PubMed - indexed for MEDLINE]Related articles

Etiology of vision loss in ganglioside GM3 synthase deficiency.

Farukhi F, Dakkouri C, Wang H, Wiztnitzer M, Traboulsi EI.

Ophthalmic Genet. 2006 Sep;27(3):89-91.PMID: 17050284 [PubMed - indexed for MEDLINE]Related articles

Intracranial vascular anomalies in patients with morning glory disk anomaly.

Lenhart PD, Lambert SR, Newman NJ, Biousse V, Atkinson DS Jr, Traboulsi EI, Hutchinson AK.

Am J Ophthalmol. 2006 Oct;142(4):644-50.PMID: 17011858 [PubMed - indexed for MEDLINE]Related articles

Ocular abnormalities in mice lacking the Ski proto-oncogene.

McGannon P, Miyazaki Y, Gupta PC, Traboulsi EI, Colmenares C.

Invest Ophthalmol Vis Sci. 2006 Oct;47(10):4231-7.PMID: 17003410 [PubMed - indexed for MEDLINE]Related articlesFree article

Mapping a new genetic locus for X linked retinitis pigmentosa to Xq28.

Melamud A, Shen GQ, Chung D, Xi Q, Simpson E, Li L, Peachey NS, Zegarra H, Hagstrom SA, Wang QK, Traboulsi EI.

J Med Genet. 2006 Jun;43(6):e27.PMID: 16740911 [PubMed - indexed for MEDLINE]Related articlesFree article

Mutation screen of the TUB gene in patients with retinitis pigmentosa and Leber congenital amaurosis.

Xi Q, Pauer GJ, Traboulsi EI, Hagstrom SA.

Exp Eye Res. 2006 Sep;83(3):569-73. Epub 2006 Apr 27.PMID: 16643894 [PubMed - indexed for MEDLINE]Related articles

Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities.

Bidinost C, Matsumoto M, Chung D, Salem N, Zhang K, Stockton DW, Khoury A, Megarbane A, Bejjani BA, Traboulsi EI.

Invest Ophthalmol Vis Sci. 2006 Apr;47(4):1274-80.PMID: 16565358 [PubMed - indexed for MEDLINE]Related articlesFree article

Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3.

Chan WM, Traboulsi EI, Arthur B, Friedman N, Andrews C, Engle EC.

J Med Genet. 2006 Mar;43(3):e11.PMID: 16525029 [PubMed - indexed for MEDLINE]Related articlesFree article

Mutation screen of the membrane-type frizzled-related protein (MFRP) gene in patients with inherited retinal degenerations.

Pauer GJ, Xi Q, Zhang K, Traboulsi EI, Hagstrom SA.

Ophthalmic Genet. 2005 Dec;26(4):157-61.PMID: 16352475 [PubMed - indexed for MEDLINE]Related articles

Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1 mutation.

Li C, Kosmorsky G, Zhang K, Katz BJ, Ge J, Traboulsi EI.

Am J Med Genet A. 2005 Oct 15;138A(3):208-11.PMID: 16158427 [PubMed - indexed for MEDLINE]Related articles

SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies.

Hagstrom SA, Pauer GJ, Reid J, Simpson E, Crowe S, Maumenee IH, Traboulsi EI.

Am J Med Genet A. 2005 Oct 1;138A(2):95-8.PMID: 16145681 [PubMed - indexed for MEDLINE]Related articles

PHACE syndrome: report of a case with a glioma of the anterior skull base and ocular malformations.

Cannady SB, Kahn TA, Traboulsi EI, Koltai PJ.

Int J Pediatr Otorhinolaryngol. 2006 Mar;70(3):561-4. Epub 2005 Sep 6.PMID: 16144720 [PubMed - indexed for MEDLINE]Related articles