FIND

researchers

DISCOVER

relevant articles

PROMOTE

your research

now for free

Elias Traboulsi

Research Profile

Concepts & Ideas

Physiology

Procedures

Living Beings

Infants

Disorders

Chemicals & Drugs

Eye Proteins

Anatomy

Genes & Molecular Sequences

Recessive Genes

Co-author Network

Publications

TOP 3
Tyson R Kinnick; robert Mullins; Sundeep Dev; Monique Leys; David A Mackey; Christine N Kay; Byron Lam; Gerald A Fishman; Elias Traboulsi; Raymond Iezzi Jr.; Edwin M Stone
Autosomal recessive vitelliform macular dystrophy in a large cohort of vitelliform macular dystrophy patients.
M Turell; S Morrison; Elias Traboulsi
Spondylometaphyseal dysplasia with cone-rod dystrophy.
Max A Tischfield; Hagit N Baris; Chen Wu; Guenther Rudolph; Lionel Van Maldergem; Wei He; Wai-Man Chan; Caroline Andrews; Joseph L Demer; Richard L Robertson; David A Mackey; Jonathan B Ruddle; Thomas D Bird; Irene Gottlob; Christina Pieh; Elias Traboulsi; Scott L Pomeroy; David G Hunter; Janet S Soul; Anna Newlin; Louise J Sabol; Edward J Doherty; Clara E de Uzcátegui; Nicolas de Uzcátegui; MARY COLLINS; Emin C Sener; Bettina Wabbels; Heide Hellebrand; Thomas Meitinger; Teresa de Berardinis; Adriano Magli; Costantino Schiavi; Marco Pastore-Trossello; Feray Koc; Agnes M Wong; Alex V Levin; Michael T Geraghty; Maria Descartes; Maree Flaherty; Robyn V Jamieson; H U Møller; Ingo Meuthen; David F Callen; Janet Kerwin; Susan Lindsay; Alfons Meindl; Mohan L Gupta; David Pellman; Elizabeth C Engle
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance.

Register for free to view:

Visualized networks:

See your personal network in
sophisticated graphical views

GeoTargeted Searches:

Locate experts around the world
and connect with global collaborators

Research Profiles:

See the research activity
of experts around the globe

Geonetwork of Elias Traboulsi (preview)

Cities where this author has publications
Cities where co-authors of this author have publications

Flash Player Required

All Publications

2011: Tyson R Kinnick; robert Mullins; Sundeep Dev; Monique Leys; David A Mackey; Christine N Kay; Byron Lam; Gerald A Fishman; Elias Traboulsi; Raymond Iezzi Jr.; Edwin M Stone
Autosomal recessive vitelliform macular dystrophy in a large cohort of vitelliform macular dystrophy patients.
Retina (Philadelphia, Pa.) 2011;31(3):581-95.
2010: M Turell; S Morrison; Elias Traboulsi
Spondylometaphyseal dysplasia with cone-rod dystrophy.
Ophthalmic genetics 2010;31(1):12-7.
2010: Max A Tischfield; Hagit N Baris; Chen Wu; Guenther Rudolph; Lionel Van Maldergem; Wei He; Wai-Man Chan; Caroline Andrews; Joseph L Demer; Richard L Robertson; David A Mackey; Jonathan B Ruddle; Thomas D Bird; Irene Gottlob; Christina Pieh; Elias Traboulsi; Scott L Pomeroy; David G Hunter; Janet S Soul; Anna Newlin; Louise J Sabol; Edward J Doherty; Clara E de Uzcátegui; Nicolas de Uzcátegui; MARY COLLINS; Emin C Sener; Bettina Wabbels; Heide Hellebrand; Thomas Meitinger; Teresa de Berardinis; Adriano Magli; Costantino Schiavi; Marco Pastore-Trossello; Feray Koc; Agnes M Wong; Alex V Levin; Michael T Geraghty; Maria Descartes; Maree Flaherty; Robyn V Jamieson; H U Møller; Ingo Meuthen; David F Callen; Janet Kerwin; Susan Lindsay; Alfons Meindl; Mohan L Gupta; David Pellman; Elizabeth C Engle
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance.
Cell 2010;140(1):74-87.
2009: Elias Traboulsi
Hope and major strides for genetic diseases of the eye.
Journal of genetics 2009;88(4):395-7.
2009: Daniel C Chung; Elias Traboulsi
Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus / American Association for Pediatric Ophthalmology and Strabismus 2009;13(6):587-92.
2009: Arun D Singh; Elias Traboulsi; Janet Reid; Donna Patno; Jeffrey Chapa; Ricardo Rodriguez; Sabine Iben; Lynn Schoenfield
Orbital cyst: prenatal diagnosis.
Ophthalmology 2009;116(10):2042-42.e2.
2009: Ajaz M Siddiqui; David B Everman; R Curtis Rogers; Barbara R DuPont; Brooke T Smith; Laurie H Seaver; Augusto Morales; Mary Varn; Bruce Cohen; Elias Traboulsi
Microcephaly and congenital grouped pigmentation of the retinal pigment epithelium associated with submicroscopic deletions of 13q33.3-q34 and 11p15.4.
Ophthalmic genetics 2009;30(3):136-41.
2009: Elias Traboulsi
Morning glory disk anomaly--more than meets the eye.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus / American Association for Pediatric Ophthalmology and Strabismus 2009;13(4):333-4.
2009: Ying Qian; Elias Traboulsi
Lacrimal sac compression, not massage.
Journal of pediatric ophthalmology and strabismus 2009;46(4):252.
2009: Mark R Barakat; Elias Traboulsi; Jonathan E Sears
Coats' disease, megalopapilla and Cornelia de Lange syndrome.
Ophthalmic genetics 2009;30(2):106-8.
2009: Quansheng Xi; Lin Li; Elias Traboulsi; Qing Kenneth Wang
Novel ABCA4 compound heterozygous mutations cause severe progressive autosomal recessive cone-rod dystrophy presenting as Stargardt disease.
Molecular vision 2009;15():638-45.
2009: Nikolas J S London; Patricia Kessler; Bryan Williams; Gayle J Pauer; Stephanie A Hagstrom; Elias Traboulsi
Sequence alterations in RX in patients with microphthalmia, anophthalmia, and coloboma.
Molecular vision 2009;15():162-7.
2008: Aimee V Chappelow; Janet Reid; Sumit Parikh; Elias Traboulsi
Aicardi syndrome in a genotypic male.
Ophthalmic genetics 2008;29(4):181-3.
2008: Wendy Render; Lauren W Wang; Nathalie Dagoneau; Kazimir J Odrcic; Valérie Cormier-Daire; Elias Traboulsi; Suneel S Apte
Functional analysis of an ADAMTS10 signal peptide mutation in Weill-Marchesani syndrome demonstrates a long-range effect on secretion of the full-length enzyme.
Human mutation 2008;29(12):1425-34.
2008: Craig Lewis; Elias Traboulsi
Use of Tegaderm for postoperative eye dressing in children.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus / American Association for Pediatric Ophthalmology and Strabismus 2008;12(4):420.
2008: Bennie H Jeng; Andreas Marcotty; Elias Traboulsi
Descemet stripping automated endothelial keratoplasty in a 2-year-old child.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus / American Association for Pediatric Ophthalmology and Strabismus 2008;12(3):317-8.
2008: Brian J Lee; Elias Traboulsi
Update on the morning glory disc anomaly.
Ophthalmic genetics 2008;29(2):47-52.
2008: Martin Heur; Bryan Costin; Sue Crowe; Richard A Grimm; Rocio Moran; Lars G Svensson; Elias Traboulsi
The value of keratometry and central corneal thickness measurements in the clinical diagnosis of Marfan syndrome.
American journal of ophthalmology 2008;145(6):997-1001.
2008: Tobias Loddenkemper; N R Friedman; Paul M Ruggieri; A Marcotty; J Sears; Elias Traboulsi
Pituitary stalk duplication in association with moya moya disease and bilateral morning glory disc anomaly - broadening the clinical spectrum of midline defects.
Journal of neurology 2008;255(6):885-90.
2008: E X Fu; G S Kosmorsky; Elias Traboulsi
Giant intracavernous carotid aneurysm presenting as isolated sixth nerve palsy in an infant.
The British journal of ophthalmology 2008;92(4):576-7.
2008: Elias Traboulsi; Jay Ellison; Jonathan E Sears; Irene H Maumenee; John Avallone; Brian G Mohney
Aniridia with preserved visual function: a report of four cases with no mutations in PAX6.
American journal of ophthalmology 2008;145(4):760-4.
2008: Elias Traboulsi; Mansoor Sarfarazi
The use of microarray technology in deciphering the cause of genetic eye diseases: LOXL1 and exfoliation syndrome.
American journal of ophthalmology 2008;145(3):391-3.
2008: Kathryn E Bollinger; Valerie Kattouf; Brian Arthur; Avery H Weiss; Jane Kivlin; Natalie Kerr; Constance E West; Michael Kipp; Elias Traboulsi
Hypermetropia and esotropia in myotonic dystrophy.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus / American Association for Pediatric Ophthalmology and Strabismus 2008;12(1):69-71.
2008: Elias Traboulsi; Heather Cimino; Constance Mash; Rhonda Wilson; Susan Crowe; Hilel Lewis
Vision First, a program to detect and treat eye diseases in young children: the first four years.
Transactions of the American Ophthalmological Society 2008;106():179-85; discussion 185-6.
2008: Yachna Ahuja; Susanne Kohl; Elias Traboulsi
CNGA3 mutations in two United Arab Emirates families with achromatopsia.
Molecular vision 2008;14():1293-7.
2007: Ahmad B Tarabishy; Terry J Alexandrou; Elias Traboulsi
Syndrome of myelinated retinal nerve fibers, myopia, and amblyopia: a review.
Survey of ophthalmology 2007;52(6):588-96.
2007: Mehran Taban; Dina S A Memoracion-Peralta; Heng Wang; Lihadh Al-Gazali; Elias Traboulsi
Cohen syndrome: report of nine cases and review of the literature, with emphasis on ophthalmic features.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus / American Association for Pediatric Ophthalmology and Strabismus 2007;11(5):431-7.
2007: Mehran Taban; Elias Traboulsi
Malignant melanoma of the conjunctiva in children: a review of the international literature 1965-2006.
Journal of pediatric ophthalmology and strabismus 2007;44(5):277-82; quiz 298-9.
2007: Kathryn Bollinger; Elias Traboulsi
Molecular genetics for the pediatric ophthalmologist.
Journal of pediatric ophthalmology and strabismus 2007;44(4):209-15; quiz 241-2.
2007: Elias Traboulsi
Congenital cranial dysinnervation disorders and more.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus / American Association for Pediatric Ophthalmology and Strabismus 2007;11(3):215-7.
2007: Mehran Taban; Jonathan E Sears; Eric Crouch; Andrew P Schachat; Elias Traboulsi
Acute idiopathic frosted branch angiitis.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus / American Association for Pediatric Ophthalmology and Strabismus 2007;11(3):286-7.
2007: Daniel F Schorderet; Leila Tiab; Marie-Claire Gaillard; Birgit Lorenz; Georges Klainguti; John B Kerrison; Elias Traboulsi; Francis L Munier
Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. Online.
Human mutation 2007;28(5):525.
2007: Wai-Man Chan; Caroline Andrews; Laryssa Dragan; Douglas Fredrick; Linlea Armstrong; Christopher Lyons; Michael T Geraghty; David G Hunter; Ahmad Yazdani; Elias Traboulsi; Jan Willem R Pott; Nicholas J Gutowski; Sian Ellard; Elizabeth Young; Frank Hanisch; Feray Koc; Bruce Schnall; Elizabeth C Engle
Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1.
BMC genetics 2007;8():26.
2007: Sunita Radhakrishnan; Elisa Bala; Neal S Peachey; Hilel Lewis; Elias Traboulsi
Bilateral macular lesions in a 10-year-old girl.
American journal of ophthalmology 2007;143(1):184-5.
2006: Alex Melamud; Ellen Simpson; Elias Traboulsi
Introducing a new computer-based test for the clinical evaluation of color discrimination.
American journal of ophthalmology 2006;142(6):953-60.
2006: Albert J Dal Canto; Sue Crowe; Julian D Perry; Elias Traboulsi
Intraoperative relaxed muscle positioning technique for strabismus repair in thyroid eye disease.
Ophthalmology 2006;113(12):2324-30.
2006: Ben Ticho; Clair Hilchie-Schmidt; Robert T. Egel; Elias Traboulsi; Rachel J Howarth; David Robinson
Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation.
Ophthalmic genetics 2006;27(4):145-9.
2006: Elias Traboulsi; Robert K Koenekoop; Edwin M Stone
Lumpers or splitters? The role of molecular diagnosis in Leber congenital amaurosis.
Ophthalmic genetics 2006;27(4):113-5.
2006: Mehran Taban; Bruce Howard Cohen; A David Rothner; Elias Traboulsi
Association of optic nerve hypoplasia with mitochondrial cytopathies.
Journal of child neurology 2006;21(11):956-60.
2006: M Lourdes Garcia; Edna B Ty; Mehran Taban; A David Rothner; Douglas Rogers; Elias Traboulsi
Systemic and ocular findings in 100 patients with optic nerve hypoplasia.
Journal of child neurology 2006;21(11):949-56.
2006: Phoebe D Lenhart; Scott R Lambert; Nancy J Newman; Valérie Biousse; Denis S Atkinson; Elias Traboulsi; Amy K Hutchinson
Intracranial vascular anomalies in patients with morning glory disk anomaly.
American journal of ophthalmology 2006;142(4):644-50.
2006: Peter McGannon; Yasumasa Miyazaki; Pankaj Chand Gupta; Elias Traboulsi; Clemencia Colmenares
Ocular abnormalities in mice lacking the Ski proto-oncogene.
Investigative ophthalmology & visual science 2006;47(10):4231-7.
2006: J El Annan; A Marcotty; P Mitchell; Elias Traboulsi
Idiopathic macular hypoplasia: a report of four cases and refinement of the phenotype of so-called ateliotic macula.
European journal of ophthalmology 2006;16(5):741-4.
2006: Mehran Taban; Andreas Marcotty; Elias Traboulsi
Optic disc coloboma and localized chorioretinal defects in constitutional partial trisomy 8 mosaicism.
Ophthalmic genetics 2006;27(3):103-5.
2006: Fahhad Farukhi; Claudia Dakkouri; Heng Wang; Max Wiztnitzer; Elias Traboulsi
Etiology of vision loss in ganglioside GM3 synthase deficiency.
Ophthalmic genetics 2006;27(3):89-91.
2006: Quansheng Xi; Gayle J T Pauer; Elias Traboulsi; Stephanie A Hagstrom
Mutation screen of the TUB gene in patients with retinitis pigmentosa and Leber congenital amaurosis.
Experimental eye research 2006;83(3):569-73.
2006: Alex Melamud; Gong-Qing Shen; D Chung; Quansheng Xi; E Simpson; Lin Li; Neal S Peachey; H Zegarra; Stephanie A Hagstrom; Qing K Wang; Elias Traboulsi
Mapping a new genetic locus for X linked retinitis pigmentosa to Xq28.
Journal of medical genetics 2006;43(6):e27.
2006: Carla Bidinost; Masayuki Matsumoto; Daniel Chung; Nabiha Salem; Kang Zhang; David Wayne Stockton; Antoine Khoury; André Megarbane; Bassem A Bejjani; Elias Traboulsi
Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities.
Investigative ophthalmology & visual science 2006;47(4):1274-80.
2006: W-M Chan; Elias Traboulsi; B Arthur; N Friedman; C Andrews; E C Engle
Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3.
Journal of medical genetics 2006;43(3):e11.
2006: Steven B Cannady; Teri A Kahn; Elias Traboulsi; Peter J Koltai
PHACE syndrome: report of a case with a glioma of the anterior skull base and ocular malformations.
International journal of pediatric otorhinolaryngology 2006;70(3):561-4.
2005: Gayle J T Pauer; Quansheng Xi; Kang Zhang; Elias Traboulsi; Stephanie A Hagstrom
Mutation screen of the membrane-type frizzled-related protein (MFRP) gene in patients with inherited retinal degenerations.
Ophthalmic genetics 2005;26(4):157-61.
2005: Chunmei Li; Gregory S Kosmorsky; Kang Zhang; Bradley J Katz; Jian Ge; Elias Traboulsi
Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1 mutation.
American journal of medical genetics. Part A 2005;138A(3):208-11.
2005: Stephanie A Hagstrom; Gayle J T Pauer; Janet Reid; Ellen Simpson; Sue Crowe; Irene H Maumenee; Elias Traboulsi
SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies.
American journal of medical genetics. Part A 2005;138A(2):95-8.
2005: Sai Chavala; A Sari; Hilel Lewis; Gayle J T Pauer; E Simpson; Stephanie A Hagstrom; Elias Traboulsi
An Arg311Gln NR2E3 mutation in a family with classic Goldmann-Favre syndrome.
The British journal of ophthalmology 2005;89(8):1065-6.
2005: Olof H Sundin; Gregory S Leppert; Eduardo D Silva; Jun-Ming Yang; Sharola Dharmaraj; Irene H Maumenee; Luisa Coutinho Santos; Cameron F Parsa; Elias Traboulsi; Karl W Broman; Cathy DiBernardo; Janet S Sunness; Jeffrey Toy; Ethan M Weinberg
Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein.
Proceedings of the National Academy of Sciences of the United States of America 2005;102(27):9553-8.
2005: K Sabti; B A Hajj; J-M Hwang; Elias Traboulsi; J Reid
Congenital third nerve palsy, moyamoya disease and optic nerve head staphyloma.
The British journal of ophthalmology 2005;89(6):778-9.
2005: Elias Traboulsi
The challenges and surprises of studying the genetics of age-related macular degeneration.
American journal of ophthalmology 2005;139(5):908-11.
2005: Samuel G Jacobson; Tomas S Aleman; Artur Vahe Cideciyan; Alexander Sumaroka; Sharon B Schwartz; Elizabeth A M Windsor; Elias Traboulsi; Elise Heon; Steven J Pittler; Ann H Milam; Albert M Maguire; Krzysztof Palczewski; Edwin M Stone; Jean Bennett
Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success.
Proceedings of the National Academy of Sciences of the United States of America 2005;102(17):6177-82.
2005: Elias Traboulsi
Ocular manifestations of familial adenomatous polyposis (Gardner syndrome).
Ophthalmology clinics of North America 2005;18(1):163-6, x.
2005: Elias Traboulsi; Daniel Chung; John M Koors
Polychromasia capsulare (multicolored capsule): report of three families.
Transactions of the American Ophthalmological Society 2005;103():93-7; discussion 97.
2005: Ahmad M Mansour; Fadi F Bitar; Elias Traboulsi; Kassem Kassak; Mounir Obeid; André Megarbane; Haytham I Salti
Ocular pathology in congenital heart disease.
Eye (London, England) 2005;19(1):29-34.
2004: Elias Traboulsi; Elizabeth C Engle
Mutations in KIF21A are responsible for CFEOM1 worldwide.
Ophthalmic genetics 2004;25(4):237-9.
2004: Alexander Taich; Sue Crowe; Gregory S Kosmorsky; Elias Traboulsi
Prevalence of psychosocial disturbances in children with nonorganic visual loss.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus / American Association for Pediatric Ophthalmology and Strabismus 2004;8(5):457-61.
2004: Jill Yardley; Bart P Leroy; Niki Hart-Holden; Bart A Lafaut; Bart Loeys; Ludwine MESSIAEN; Rahat Perveen; M Ashwin Reddy; Shomi S Bhattacharya; Elias Traboulsi; Diana Baralle; Jean-Jacques De Laey; Bernard Puech; Philippe Kestelyn; Anthony T Moore; Forbes D C Manson; Graeme C M Black
Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).
Investigative ophthalmology & visual science 2004;45(10):3683-9.
2004: Eduardo Silva; Sharola Dharmaraj; Ying Ying Li; Ana Luisa Pina; Robert Colin Carter; Magali Loyer; Elias Traboulsi; George Theodossiadis; Robert K Koenekoop; Olof H Sundin; Irene H Maumenee
A missense mutation in GUCY2D acts as a genetic modifier in RPE65-related Leber Congenital Amaurosis.
Ophthalmic genetics 2004;25(3):205-17.
2004: Alex Melamud; Stephanie A Hagstrom; Elias Traboulsi
Color vision testing.
Ophthalmic genetics 2004;25(3):159-87.
2004: Koki Yamada; Wai-Man Chan; Caroline Andrews; Thomas Bosley; Emin Cumhur Sener; Johan T Zwaan; Paul B Mullaney; Banu T Oztürk; A Nurten Akarsu; Louise J Sabol; Joseph L Demer; Timothy J Sullivan; Irene Gottlob; Peter Roggenkäemper; David A Mackey; Clara E De Uzcategui; Nicolas Uzcategui; Bruria Ben-Zeev; Elias Traboulsi; Adriano Magli; Teresa de Berardinis; Vincenzo Gagliardi; Sudha Awasthi-Patney; Marlene C Vogel; Joseph F Rizzo; Elizabeth C Engle
Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3).
Investigative ophthalmology & visual science 2004;45(7):2218-23.
2004: Juha Kolehmainen; Robert Wilkinson; Anna-Elina Lehesjoki; Kate Chandler; Satu Kivitie-Kallio; Jill Clayton-Smith; Ann-Liz Träskelin; Laura Waris; Anne Juvonen; Jabbar Khan; Varda Gross-Tsur; Elias Traboulsi; Mette Warburg; Jean-Pierre Fryns; Reijo Norio; Graeme C M Black; Forbes D C Manson
Delineation of Cohen syndrome following a large-scale genotype-phenotype screen.
American journal of human genetics 2004;75(1):122-7.
2004: Joanna C Jen; Wai-Man Chan; Thomas Bosley; Jijun Wan; Janai R Carr; Udo Rüb; David Shattuck; Georges Salamon; Lili C Kudo; Jing Ou; Doris D M Lin; Mustafa A M Salih; Tulay Kansu; Hesham Al Dhalaan; Zayed Al Zayed; David B MacDonald; Bent Stigsby; Andreas Plaitakis; Emmanuel K Dretakis; Irene Gottlob; Christina Pieh; Elias Traboulsi; Qing Wang; Lejin Wang; Caroline Andrews; Koki Yamada; Joseph L Demer; Shaheen Karim; Jeffry R Alger; Daniel Geschwind; Thomas Deller; Nancy L Sicotte; Stanley F Nelson; Robert W Baloh; Elizabeth C Engle
Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis.
Science (New York, N.Y.) 2004;304(5676):1509-13.
2004: Susie Chang; Carol A Crowe; Elias Traboulsi
Brown syndrome associated with velocardiofacial syndrome.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus / American Association for Pediatric Ophthalmology and Strabismus 2004;8(3):290-2.
2004: Ahmad Yazdani; Elias Traboulsi
Classification and surgical management of patients with familial and sporadic forms of congenital fibrosis of the extraocular muscles.
Ophthalmology 2004;111(5):1035-42.
2004: Anren Li; Xiaodong Jiao; Francis L Munier; Daniel F Schorderet; Wenliang Yao; Fumino Iwata; Mutsuko Hayakawa; Atsushi Kanai; Muh Shy Chen; Richard Alan Lewis; John R Heckenlively; Richard G Weleber; Elias Traboulsi; Qingjiong Zhang; Xueshan Xiao; Muriel I Kaiser-Kupfer; Yuri V Sergeev; J Fielding Hejtmancik
Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2.
American journal of human genetics 2004;74(5):817-26.
2004: Kholoud Al-Khayer; Stephanie A Hagstrom; Gayle J T Pauer; Hernando Zegarra; Jonathan Sears; Elias Traboulsi
Thirty-year follow-up of a patient with leber congenital amaurosis and novel RPE65 mutations.
American journal of ophthalmology 2004;137(2):375-7.
2004: Elias Traboulsi
Congenital abnormalities of cranial nerve development: overview, molecular mechanisms, and further evidence of heterogeneity and complexity of syndromes with congenital limitation of eye movements.
Transactions of the American Ophthalmological Society 2004;102():373-89.
2003: Koki Yamada; Caroline Andrews; Wai-Man Chan; Craig McKeown; Adriano Magli; Teresa de Berardinis; Anat Loewenstein; Moshe Lazar; Michael O'Keefe; Robert Letson; Arnold London; Mark Ruttum; Naomichi Matsumoto; Nakamichi Saito; Lisa Morris; Monte A Delmonte; Roger H Johnson; Eiichiro Uyama; Willem A Houtman; Berendina de Vries; Thomas J Carlow; Blaine L Hart; Nicolas Krawiecki; John Shoffner; Marlene C Vogel; James Katowitz; Scott M Goldstein; Alex V Levin; Emin C Sener; Banu T Ozturk; A Nurten Akarsu; Michael C Brodsky; Frank Hanisch; Robert P Cruse; Alina A Zubcov; Richard M Robb; Peter Roggenkäemper; Irene Gottlob; Lionel Kowal; Ravi Battu; Elias Traboulsi; Piergiorgio Franceschini; Anna Newlin; Joseph L Demer; Elizabeth C Engle
Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).
Nature genetics 2003;35(4):318-21.
2003: Ahmad Yazdani; Daniel C Chung; Morteza Abbaszadegan; Kholoud Al-Khayer; Wai Man Chan; Milad Yazdani; Kazem Ghodsi; Elizabeth C Engle; Elias Traboulsi
A novel PHOX2A/ARIX mutation in an Iranian family with congenital fibrosis of extraocular muscles type 2 (CFEOM2).
American journal of ophthalmology 2003;136(5):861-5.
2003: Vaishali Parikh; Yin Yao Shugart; Kimberly F Doheny; JIE ZHANG; Lan Li; John Williams; David Hayden; Brian Craig; Hilda Capo; Denise Chamblee; Cathy Chen; MARY COLLINS; Stuart Dankner; Dean Fiergang; David L Guyton; David Hunter; Marcia Hutcheon; Marshall Keys; Nancy Morrison; Michelle Munoz; Marshall Parks; David Plotsky; Eugene Protzko; Michael X Repka; Maria Sarubbi; Bruce Schnall; R Michael Siatkowski; Elias Traboulsi; Joanne M Waeltermann; Jeremy Nathans
A strabismus susceptibility locus on chromosome 7p.
Proceedings of the National Academy of Sciences of the United States of America 2003;100(21):12283-8.
2003: Pankaj Chand Gupta; Jill Foster; Susan Crowe; Frank A Papay; Mark G Luciano; Elias Traboulsi
Ophthalmologic findings in patients with nonsyndromic plagiocephaly.
The Journal of craniofacial surgery 2003;14(4):529-32.
2003: Jeong-Min Hwang; Daniel C Chung; Elias Traboulsi
A new syndrome of hereditary congenital corneal opacities, cornea guttata, and corectopia.
Archives of ophthalmology 2003;121(7):1053-4.
2003: Kara L Levinson; Eleanor Feingold; Robert E Ferrell; Thomas W Glover; Elias Traboulsi; David N Finegold
Age of onset in hereditary lymphedema.
The Journal of pediatrics 2003;142(6):704-8.
2003: Linda A Lam; Careen Y Lowder; George Baerveldt; Scott D Smith; Elias Traboulsi
Surgical management of cataracts in children with juvenile rheumatoid arthritis-associated uveitis.
American journal of ophthalmology 2003;135(6):772-8.
2003: Anthony Hamod; Douglas Moodie; Brian Clark; Elias Traboulsi
Presenting signs and clinical diagnosis in individuals referred to rule out Marfan syndrome.
Ophthalmic genetics 2003;24(1):35-9.
2003: Pankaj Chand Gupta; D Peralta; M Parker; C Crowe; B Clark; Elias Traboulsi
Bilateral microphthalmia with cyst, facial clefts, and limb anomalies: a new syndrome with features of Waardenburg syndrome, cerebro-oculo-nasal syndrome, and craniotelencephalic dysplasia.
American journal of medical genetics. Part A 2003;117A(1):72-5.
2003: M Lourdes Garcia; David Huang; Sue Crowe; Elias Traboulsi
Relationship between the axis and degree of high astigmatism and obliquity of palpebral fissure.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus / American Association for Pediatric Ophthalmology and Strabismus 2003;7(1):14-22.
2003: Zhenglin Yang; Wei Lin; Darius M Moshfeghi; Sukanya Thirumalaichary; Xi Li; Li Jiang; Heidi Zhang; Sheng Zhang; Peter K Kaiser; Elias Traboulsi; Kang Zhang
A novel mutation in the RDS/Peripherin gene causes adult-onset foveomacular dystrophy.
American journal of ophthalmology 2003;135(2):213-8.
2002: Elias Traboulsi; Kholoud Al-Khayer; Masayuki Matsumoto; Mark A Kimak; Susan Crowe; Steven E Wilson; David N Finegold; Robert E Ferrell; David M Meisler
Lymphedema-distichiasis syndrome and FOXC2 gene mutation.
American journal of ophthalmology 2002;134(4):592-6.
2002: Lihua Y Marmorstein; Francis L Munier; Yvan Arsenijevic; Daniel F Schorderet; Precious J McLaughlin; Daniel Chung; Elias Traboulsi; Alan D Marmorstein
Aberrant accumulation of EFEMP1 underlies drusen formation in Malattia Leventinese and age-related macular degeneration.
Proceedings of the National Academy of Sciences of the United States of America 2002;99(20):13067-72.
2002: A Zervos; K E Hunt; HQ Tong; J Avallone; J Morales; N Friedman; Bruce Howard Cohen; B Clark; S Guo; Hanna T Gazda; Alan H Beggs; Elias Traboulsi
Clinical, genetic and histopathologic findings in two siblings with muscle-eye-brain disease.
European journal of ophthalmology 2002;12(4):253-61.
2002: F Yesim K Demirci; Brian W Rigatti; Gaiping Wen; Amy L Radak; Tammy S Mah; Corrine L Baic; Elias Traboulsi; Tiina Alitalo; Juliane Ramser; Michael B Gorin
X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15.
American journal of human genetics 2002;70(4):1049-53.
2002: Lourdes M Garcia; Everardo Castro; Jill A Foster; W Richard Green; Elias Traboulsi
Colobomatous microphthalmia and orbital neuroglial cyst: case report.
Ophthalmic genetics 2002;23(1):37-42.
2001: Qing Wang; Qiuyun Chen; K Zhao; Lejin Wang; L Wang; Elias Traboulsi
Update on the molecular genetics of retinitis pigmentosa.
Ophthalmic genetics 2001;22(3):133-54.
2001: M Matsumoto; Elias Traboulsi
Dominant radial drusen and Arg345Trp EFEMP1 mutation.
American journal of ophthalmology 2001;131(6):810-2.
2001: R Haddad; Sami H Uwaydat; R Dakroub; Elias Traboulsi
Confirmation of the autosomal recessive syndrome of ectopia lentis and distinctive craniofacial appearance.
American journal of medical genetics 2001;99(3):185-9.
2001: B I Aguirre-Aquino; CD Riemann; Hilel Lewis; Elias Traboulsi
Anterior transposition of the inferior oblique muscle as the initial treatment of a snapped inferior rectus muscle.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus / American Association for Pediatric Ophthalmology and Strabismus 2001;5(1):52-4.
2001: MZ Seeley; T O Paul; S Crowe; G Dahms; S Lichterman; Elias Traboulsi
Comparison of clinical characteristics of familial and sporadic acquired accommodative esotropia.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus / American Association for Pediatric Ophthalmology and Strabismus 2001;5(1):18-20.
2000: David M Meisler; Michael B Raizman; Elias Traboulsi
Oral erythromycin treatment for childhood blepharokeratitis.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus / American Association for Pediatric Ophthalmology and Strabismus 2000;4(6):379-80.
2000: Susan Tonya Stefko; Kang Zhang; Michael B Gorin; Elias Traboulsi
Clinical spectrum of chromosome 6-linked autosomal dominant drusen and macular degeneration.
American journal of ophthalmology 2000;130(2):203-8.
2000: Marina Kniazeva; Elias Traboulsi; Z Yu; Susan Tonya Stefko; Michael B Gorin; Yin Yao Shugart; Jeffrey R O'Connell; C J Blaschak; Garry R Cutting; Min Han; Kang Zhang
A new locus for dominant drusen and macular degeneration maps to chromosome 6q14.
American journal of ophthalmology 2000;130(2):197-202.
2000: B I Aguirre-Aquino; D G Rogers; Elias Traboulsi
A patient with de Morsier and Duane syndromes.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus / American Association for Pediatric Ophthalmology and Strabismus 2000;4(4):243-5.
2000: R L Nguyen; S C Raja; Elias Traboulsi
Screening relatives of patients with familial chronic open angle glaucoma.
Ophthalmology 2000;107(7):1294-7.
2000: Marc F G Estafanous; MZ Seeley; Elias Traboulsi
Choroidal rupture associated with forceps delivery.
American journal of ophthalmology 2000;129(6):819-20.
2000: Elias Traboulsi; Bjorn A Lee; A Mousawi; A R Khamis; Elizabeth C Engle
Evidence of genetic heterogeneity in autosomal recessive congenital fibrosis of the extraocular muscles.
American journal of ophthalmology 2000;129(5):658-62.
2000: C Krishnan; A Roy; Elias Traboulsi
Morning glory disk anomaly, choroidal coloboma, and congenital constrictive malformations of the internal carotid arteries (moyamoya disease).
Ophthalmic genetics 2000;21(1):21-4.
2000: Elias Traboulsi; Judith A Whittum-Hudson; S H Mir; Irene H Maumenee
Microfibril abnormalities of the lens capsule in patients with Marfan syndrome and ectopia lentis.
Ophthalmic genetics 2000;21(1):9-15.
1999: Elias Traboulsi; A Zin; S J Massicotte; Gregory S Kosmorsky; P Kotagal; F D Ellis
Posterior scleral choristoma in the organoid nevus syndrome (linear nevus sebaceus of Jadassohn).
Ophthalmology 1999;106(11):2126-30.
1999: Mark S Ruttum; Thomas B Connor; Elias Traboulsi
A 14-year old boy with presumed autosomal dominant macular dystrophy causing moderate visual impairment with no discernible progression over several years.
Journal of pediatric ophthalmology and strabismus 1999;36(5):287-91.
1999: André Mégarbané; S Haddad-Zebouni; R Nabbout; A H Khoury; Elias Traboulsi
Microcephaly, colobomatous microphthalmia, short stature, and severe psychomotor retardation in two male cousins: a new MCA/MR syndrome?
American journal of medical genetics 1999;83(2):82-7.
1999: Sophie J Bakri; D Siker; T Masaryk; M G Luciano; Elias Traboulsi
Ocular malformations, moyamoya disease, and midline cranial defects: a distinct syndrome.
American journal of ophthalmology 1999;127(3):356-7.
1998: Elias Traboulsi
Ocular malformations and developmental genes.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus / American Association for Pediatric Ophthalmology and Strabismus 1998;2(6):317-23.
1998: A K Fard; Elias Traboulsi
Coloboma of the lens, optic nerve hypoplasia, and orbital hemangioma--a possible developmental field defect.
Ophthalmic genetics 1998;19(4):209-12.
1998: A Guemes; Gregory S Kosmorsky; Douglas Moodie; Brian Clark; David M Meisler; Elias Traboulsi
Corneal opacities in Gaucher disease.
American journal of ophthalmology 1998;126(6):833-5.
1998: OC Trifan; Elias Traboulsi; D Stoilova; I Alozie; R Nguyen; S Raja; Mansoor Sarfarazi
A third locus (GLC1D) for adult-onset primary open-angle glaucoma maps to the 8q23 region.
American journal of ophthalmology 1998;126(1):17-28.
1998: A K Fard; W Richard Green; Elias Traboulsi
Histologic study of a torn inferior oblique muscle.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus / American Association for Pediatric Ophthalmology and Strabismus 1998;2(2):124-5.
1998: AN Samaha; W Richard Green; Elias Traboulsi; Riad N Ma'luf
Tick infestation of the eyelid.
American journal of ophthalmology 1998;125(2):263-4.
1998: S Mir; H M Wheatley; I E Hussels; Judith A Whittum-Hudson; Elias Traboulsi
A comparative histologic study of the fibrillin microfibrillar system in the lens capsule of normal subjects and subjects with Marfan syndrome.
Investigative ophthalmology & visual science 1998;39(1):84-93.
1997: Susan Tonya Stefko; Peter A Campochiaro; P Wang; Y Li; D Zhu; Elias Traboulsi
Dominant inheritance of optic pits.
American journal of ophthalmology 1997;124(1):112-3.
1997: Francis M Giardiello; Gloria M Petersen; Steven Piantadosi; Stephen B Gruber; Elias Traboulsi; G Johan A Offerhaus; K Muro; Anne J Krush; Susan V Booker; MC Luce; SJ Laken; Kenneth W Kinzler; Bert Vogelstein; Stanley R Hamilton
APC gene mutations and extraintestinal phenotype of familial adenomatous polyposis.
Gut 1997;40(4):521-5.
1996: J M Robitaille; Lee H Monsein; Elias Traboulsi
Coats' disease and central nervous system venous malformation.
Ophthalmic genetics 1996;17(4):215-8.