Works by Traboulsi, Elias I.
Results: 88
A Novel KCNJ13 Nonsense Mutation and Loss of Kir7.1 Channel Function Causes Leber Congenital Amaurosis (LCA16).
- Published in:
- Human Mutation, 2015, v. 36, n. 7, p. 720, doi. 10.1002/humu.22807
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- Article
Through the looking glass: eye anomalies in the age of molecular science.
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- 2019
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- Publication type:
- Editorial
Hereditary Systemic Diseases Can Have a Predominant Ocular Phenotype, but They Are Still Systemic Diseases.
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- 2021
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- Publication type:
- journal article
Progression of Stargardt Disease as Determined by Fundus Autofluorescence Over a 12-Month Period: ProgStar Report No. 11.
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- JAMA Ophthalmology, 2019, v. 137, n. 10, p. 1134, doi. 10.1001/jamaophthalmol.2019.2885
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- Article
Progression of Stargardt Disease as Determined by Fundus Autofluorescence Over a 12-Month Period: ProgStar Report No. 11.
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- 2019
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- Publication type:
- journal article
Overlapping Phenotypes in Congenital Ocular Malformations and the Importance of Molecular Testing.
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- 2019
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- Publication type:
- journal article
Phenotypic Overlap Between Familial Exudative Vitreoretinopathy and Microcephaly, Lymphedema, and Chorioretinal Dysplasia Caused by KIF11 Mutations.
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- JAMA Ophthalmology, 2014, v. 132, n. 12, p. 1393, doi. 10.1001/jamaophthalmol.2014.2814
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- Article
Visual Acuity Changes in Patients With Leber Congenital Amaurosis and Mutations in CEP290.
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- JAMA Ophthalmology, 2013, v. 131, n. 2, p. 178, doi. 10.1001/2013.jamaophthalmol.354
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- Article
Chronic Choroidal Neovascular Membrane in Choroideremia Treated With Intravitreal Bevacizumab.
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- Ophthalmic Surgery, Lasers & Imaging Retina, 2019, v. 50, n. 6, p. e188, doi. 10.3928/23258160-20190605-15
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- Article
Ocular Findings in a Patient With KAT6A Mutation.
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- Journal of Pediatric Ophthalmology & Strabismus, 2021, v. 58, n. 3, p. e9, doi. 10.3928/01913913-20210205-02
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- Publication type:
- Article
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.
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- Human Mutation, 2011, v. 32, n. 6, p. 610, doi. 10.1002/humu.21480
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- Publication type:
- Article
Functional analysis of an ADAMTS10 signal peptide mutation in Weill-Marchesani syndrome demonstrates a long-range effect on secretion of the full-length enzyme.
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- Human Mutation, 2008, v. 29, n. 12, p. 1425, doi. 10.1002/humu.20797
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- Article
Novel mutations in FRMD7 in X-linked congenital nystagmus.
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- Human Mutation, 2007, v. 28, n. 5, p. 525, doi. 10.1002/humu.9492
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- Publication type:
- Article
Brainstem tuberculoma and isolated third nerve palsy.
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- Neuro-Ophthalmology, 1985, v. 5, n. 1, p. 43, doi. 10.3109/01658108509071458
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- Publication type:
- Article
Severe retinal complications in Knobloch Syndrome - Three siblings without clinically apparent occipital defects and a review of the literature.
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- 2022
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- Publication type:
- Report
Mitochondrial DNA A3243G variant-associated retinopathy: a meta-analysis of the clinical course of visual acuity and correlation with systemic manifestations.
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- 2021
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- Publication type:
- Report
Hickam's Dictum: Pseudoxanthoma elasticum and Usher syndrome in a single patient.
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- Ophthalmic Genetics, 2020, v. 41, n. 5, p. 465, doi. 10.1080/13816810.2020.1790616
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- Article
Novel mutation in CTNNB1 causes familial exudative vitreoretinopathy (FEVR) and microcephaly: case report and review of the literature.
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- Ophthalmic Genetics, 2020, v. 41, n. 1, p. 63, doi. 10.1080/13816810.2020.1723118
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- Article
Retinal dystrophy associated with a Kizuna (KIZ) mutation and a predominantly macular phenotype.
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- Ophthalmic Genetics, 2019, v. 40, n. 5, p. 455, doi. 10.1080/13816810.2019.1666880
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- Article
Evidence of retinal degeneration in Wolfram syndrome.
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- 2019
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- Publication type:
- Case Study
Gene therapy for RPE65-related retinal disease.
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- Ophthalmic Genetics, 2018, v. 39, n. 6, p. 671, doi. 10.1080/13816810.2018.1533027
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- Publication type:
- Article
Bilateral angle closure glaucoma in a 28-year-old Cohen syndrome patient.
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- Ophthalmic Genetics, 2018, v. 39, n. 5, p. 657, doi. 10.1080/13816810.2018.1495746
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- Publication type:
- Article
A novel dominant CRX mutation causes adult-onset macular dystrophy.
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- Ophthalmic Genetics, 2018, v. 39, n. 1, p. 120, doi. 10.1080/13816810.2017.1373831
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- Publication type:
- Article
Correlation of ultra-widefield fundus autofluorescence patterns with the underlying genotype in retinal dystrophies and retinitis pigmentosa.
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- Ophthalmic Genetics, 2017, v. 38, n. 4, p. 320, doi. 10.1080/13816810.2016.1227450
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- Article
Authors’ response to Finsterer and Zarrouk-Mahjoub’s comments.
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- Ophthalmic Genetics, 2017, v. 38, n. 3, p. 299, doi. 10.1080/13816810.2016.1193882
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- Publication type:
- Article
Ultra-widefield fundus autofluorescence patterns in retinitis pigmentosa and other retinal dystrophies.
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- 2017
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- Publication type:
- Letter to the Editor
Ophthalmological findings in 74 patients with mitochondrial disease.
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- Ophthalmic Genetics, 2017, v. 38, n. 1, p. 67, doi. 10.3109/13816810.2015.1130153
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- Article
Molecular biology and genetics of embryonic eyelid development.
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- Ophthalmic Genetics, 2016, v. 37, n. 3, p. 252, doi. 10.3109/13816810.2015.1071409
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- Publication type:
- Article
Retinal Dystrophy with Intraretinal Cystoid Spaces Associated with Mutations in the Crumbs Homologue ( CRB1 ) Gene.
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- Ophthalmic Genetics, 2015, v. 36, n. 3, p. 257, doi. 10.3109/13816810.2014.881505
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- Publication type:
- Article
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.
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- Ophthalmic Genetics, 2013, v. 34, n. 4, p. 183, doi. 10.3109/13816810.2012.762932
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- Article
Ocular manifestations of the autoinflammatory syndromes.
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- Ophthalmic Genetics, 2012, v. 33, n. 4, p. 179, doi. 10.3109/13816810.2012.695421
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- Article
Ophthalmologic Abnormalities in Mowat-Wilson Syndrome and a Mutation in ZEB2.
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- Ophthalmic Genetics, 2012, v. 33, n. 3, p. 159, doi. 10.3109/13816810.2011.610860
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- Article
Choroideremia: A review of general findings and pathogenesis.
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- Ophthalmic Genetics, 2012, v. 33, n. 2, p. 57, doi. 10.3109/13816810.2011.620056
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- Article
Choroideremia: Effect of age on visual acuity in patients and female carriers.
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- Ophthalmic Genetics, 2012, v. 33, n. 2, p. 66, doi. 10.3109/13816810.2011.623261
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- Article
Astrocytic Hamartoma of the optic disc and multiple café-au-lait macules in a child with neurofibromatosis type 2.
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- Ophthalmic Genetics, 2010, v. 31, n. 4, p. 209, doi. 10.3109/13816810.2010.512356
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- Article
Microcephaly and Congenital Grouped Pigmentation of the Retinal Pigment Epithelium Associated with Submicroscopic Deletions of 13q33.3-q34 and 11p15.4.
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- Ophthalmic Genetics, 2009, v. 30, n. 3, p. 136, doi. 10.1080/13816810903085263
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- Article
Coats' Disease, Megalopapilla and Cornelia De Lange Syndrome.
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- Ophthalmic Genetics, 2009, v. 30, n. 2, p. 106, doi. 10.1080/13816810902744613
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- Article
Aicardi Syndrome in a Genotypic Male.
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- Ophthalmic Genetics, 2008, v. 29, n. 4, p. 181, doi. 10.1080/13816810802320209
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- Article
Update on the Morning Glory Disc Anomaly.
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- Ophthalmic Genetics, 2008, v. 29, n. 2, p. 47, doi. 10.1080/13816810801901876
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- Article
Lumpers or Splitters? The Role of Molecular Diagnosis in Leber Congenital Amaurosis.
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- Ophthalmic Genetics, 2006, v. 27, n. 4, p. 113, doi. 10.1080/13816810601013146
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- Article
Ocular Findings in Gillespie-Like Syndrome: Association with a New PAX6 Mutation.
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- Ophthalmic Genetics, 2006, v. 27, n. 4, p. 145, doi. 10.1080/13816810600976897
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- Publication type:
- Article
Optic Disc Coloboma and Localized Chorioretinal Defects in Constitutional Partial Trisomy 8 Mosaicism
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- Ophthalmic Genetics, 2006, v. 27, n. 3, p. 103, doi. 10.1080/13816810600862543
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- Article
Etiology of Vision Loss in Ganglioside GM3 Synthase Deficiency.
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- Ophthalmic Genetics, 2006, v. 27, n. 3, p. 89, doi. 10.1080/13816810600862626
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- Publication type:
- Article
Mutation Screen of the Membrane-Type Frizzled-Related Protein ( MFRP ) Gene in Patients with Inherited Retinal Degenerations.
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- Ophthalmic Genetics, 2005, v. 26, n. 4, p. 157, doi. 10.1080/13816810500374425
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- Article
Mutations in KIF21A are responsible for CFEOM1 worldwide.
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- Ophthalmic Genetics, 2004, v. 25, n. 4, p. 237, doi. 10.1080/13816810490911684
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- Article
Ocular findings in ichthyosis follicularis-alopecia-photophobia (IFAP) syndrome.
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- Ophthalmic Genetics, 2004, v. 25, n. 2, p. 153, doi. 10.1080/13816810490514405
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- Article
Presenting signs and clinical diagnosis in individuals referred to rule out Marfan syndrome.
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- Ophthalmic Genetics, 2003, v. 24, n. 1, p. 35, doi. 10.1076/opge.24.1.35.13892
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- Article
Colobomatous microphthalmia and orbital neuroglial cyst: Case report.
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- Ophthalmic Genetics, 2002, v. 23, n. 1, p. 037, doi. 10.1076/opge.23.1.37.2205
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- Article
Update on the molecular genetics of retinitis pigmentosa.
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- Ophthalmic Genetics, 2001, v. 22, n. 3, p. 133, doi. 10.1076/opge.22.3.133.2224
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- Publication type:
- Article
Microfibril abnormalities of the lens capsule in patients withMarfan syndrome and ectopia lentis.
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- Ophthalmic Genetics, 2000, v. 21, n. 1, p. 9, doi. 10.1076/1381-6810(200003)21:1;1-I;FT009
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- Publication type:
- Article