Wadih Zein

Wadih Zein

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Wadih Zein

Publications by authors named "Wadih Zein"

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MULTIMODAL EVIDENCE OF TYPE 3 NEOVASCULARIZATION IN ENHANCED S-CONE SYNDROME.

Retin Cases Brief Rep 2019 Jul 24. Epub 2019 Jul 24.

National Eye Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1097/ICB.0000000000000892DOI Listing
July 2019

Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.

Am J Hum Genet 2019 Jun 30;104(6):1127-1138. Epub 2019 May 30.

Undiagnosed Diseases Program, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, MD 20892, USA; Common Fund, Office of the Director, NIH, Bethesda, MD 20892, USA; Human Biochemical Genetics Section, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.04.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6562152PMC
June 2019

Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patients.

Mol Genet Metab 2019 02 3;126(2):188-195. Epub 2018 Dec 3.

NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.12.001DOI Listing
February 2019

Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising.

Orphanet J Rare Dis 2019 02 21;14(1):52. Epub 2019 Feb 21.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, MSC 1851, Bethesda, MD, 20892-1851, USA.

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https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1
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http://dx.doi.org/10.1186/s13023-019-1023-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6385472PMC
February 2019

Case Report: Ocular toxoplasmosis in a WHIM syndrome immunodeficiency patient.

F1000Res 2019 2;8. Epub 2019 Jan 2.

Laboratory of Molecular Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, 20892, USA.

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https://f1000research.com/articles/8-2/v2
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http://dx.doi.org/10.12688/f1000research.16825.2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6587139.2PMC
January 2019

Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center.

Ophthalmology 2018 12 25;125(12):1937-1952. Epub 2018 Jul 25.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland; Johns Hopkins University School of Medicine, Department of Pediatrics and McKusick-Nathans Institute of Genetic Medicine, Baltimore, Maryland.

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http://dx.doi.org/10.1016/j.ophtha.2018.05.026DOI Listing
December 2018

Defective ciliogenesis in INPP5E-related Joubert syndrome.

Am J Med Genet A 2017 Dec 20;173(12):3231-3237. Epub 2017 Oct 20.

NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.38376DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5685896PMC
December 2017

Cover Image, Volume 173A, Number 12, December 2017.

Am J Med Genet A 2017 Dec;173(12)

NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.38548DOI Listing
December 2017

Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies.

BMC Ophthalmol 2017 Aug 24;17(1):157. Epub 2017 Aug 24.

Intramural IT and Bioinformatics Program, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1186/s12886-017-0549-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5571584PMC
August 2017

HSP and deafness: Neurocristopathy caused by a novel mosaic mutation.

Neurol Genet 2017 Jun 15;3(3):e151. Epub 2017 May 15.

Neuromuscular and Neurogenetic Disorders of Childhood Section (S.D., D.B.-G., P.Y., Y.H., P.M., D.E., A.R.F., C.G.B.), and National Eye Institute (W.M.Z.), National Institutes of Health, Bethesda, MD; Children's National Medical Center (D.B.-G.), Washington, DC; Department of Neurology (A.H.), The Johns Hopkins University School of Medicine, Baltimore, MD; Children's Mercy Hospital (A.M.A., A.C.M.), Kansas City, MO; and Department of Neurology (M.D.), University of Kansas Medical Center, Kansas City, KS.

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http://dx.doi.org/10.1212/NXG.0000000000000151DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5432370PMC
June 2017

The Use of Stem Cells in Burn Wound Healing: A Review.

Biomed Res Int 2015 7;2015:684084. Epub 2015 Jul 7.

Department of Anatomy, Cell Biology, and Physiology, Faculty of Medicine, American University of Beirut, Beirut, Lebanon.

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http://www.hindawi.com/journals/bmri/2015/684084/
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http://dx.doi.org/10.1155/2015/684084DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4508388PMC
May 2016

Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency.

Ophthalmology 2016 Mar 26;123(3):571-82. Epub 2016 Jan 26.

National Human Genome Research Institute, Genetics and Molecular Biology Branch, National Institutes of Health, Bethesda, Maryland.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5065014PMC
http://dx.doi.org/10.1016/j.ophtha.2015.10.041DOI Listing
March 2016

Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes.

J Med Genet 2015 Dec 18;52(12):830-9. Epub 2015 Sep 18.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1136/jmedgenet-2015-103316DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5517294PMC
December 2015

Neuroimaging experience in pediatric Horner syndrome.

Pediatr Radiol 2015 Sep 2;45(10):1535-43. Epub 2015 Apr 2.

Department of Radiology, Boston University Medical Center, Boston University School of Medicine, 820 Harrison Ave., FGH Building, 3rd Floor, Boston, MA, 02118, USA,

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http://dx.doi.org/10.1007/s00247-015-3341-9DOI Listing
September 2015

Cone responses in Usher syndrome types 1 and 2 by microvolt electroretinography.

Invest Ophthalmol Vis Sci 2014 Nov 25;56(1):107-14. Epub 2014 Nov 25.

National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, United States.

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http://dx.doi.org/10.1167/iovs.14-15355DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4288141PMC
November 2014

CNGB3-achromatopsia clinical trial with CNTF: diminished rod pathway responses with no evidence of improvement in cone function.

Invest Ophthalmol Vis Sci 2014 Sep 9;55(10):6301-8. Epub 2014 Sep 9.

National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, United States.

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http://dx.doi.org/10.1167/iovs.14-14860DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4191169PMC
September 2014

Oral cysteamine bitartrate and N-acetylcysteine for patients with infantile neuronal ceroid lipofuscinosis: a pilot study.

Lancet Neurol 2014 Aug 2;13(8):777-87. Epub 2014 Jul 2.

Program on Developmental Endocrinology and Genetics, Eunice Kennedy-Shriver National Institute of Child Health and Human Development (NICHD), NIH, Bethesda, MD, USA. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(14)70142-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4139936PMC
August 2014

Association of brain-derived neurotrophic factor (BDNF) haploinsufficiency with lower adaptive behaviour and reduced cognitive functioning in WAGR/11p13 deletion syndrome.

Cortex 2013 Nov-Dec;49(10):2700-10. Epub 2013 Feb 19.

Unit on Metabolism and Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, Bethesda, MD, USA; Section on Growth and Obesity, Program in Developmental Endocrinology and Genetics, NICHD, National Institutes of Health, Bethesda, MD, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cortex.2013.02.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3762943PMC
July 2014

Systemic diagnostic testing in patients with apparently isolated uveal coloboma.

Am J Ophthalmol 2013 Dec 5;156(6):1159-1168.e4. Epub 2013 Sep 5.

Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1016/j.ajo.2013.06.037DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4167417PMC
December 2013

Preventing vision loss among students through eye safety and early detection.

NASN Sch Nurse 2013 Sep;28(5):233-6

Mount Pleasant High School, Wilmington, DE, USA.

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http://journals.sagepub.com/doi/10.1177/1942602X13497062
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http://dx.doi.org/10.1177/1942602X13497062DOI Listing
September 2013

Patients within the Broad Holoprosencephaly Spectrum have Distinct and Subtle Ophthalmologic Anomalies: Response to Khan.

Am J Med Genet A 2012 May 7;158A(5):1244-1245. Epub 2012 Feb 7.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1002/ajmg.a.35207DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3331949PMC
May 2012

Serum biomarkers and trafficking defects in peripheral tissues reflect the severity of retinopathy in three brothers affected by choroideremia.

Adv Exp Med Biol 2012 ;723:381-7

Ophthalmic Genetics and Visual Function Branch, National Eye Inst/NIH, Bethesda, MD 20892, USA.

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http://link.springer.com/10.1007/978-1-4614-0631-0_49
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http://dx.doi.org/10.1007/978-1-4614-0631-0_49DOI Listing
April 2012

Centrifugal expansion of fundus autofluorescence patterns in Stargardt disease over time.

Arch Ophthalmol 2012 Feb 10;130(2):171-9. Epub 2011 Oct 10.

Division of Epidemiology and Clinical Research, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1001/archophthalmol.2011.332DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3768260PMC
February 2012

A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum.

Am J Med Genet A 2011 Nov 4;155A(11):2713-20. Epub 2011 Oct 4.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20814, USA.

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http://dx.doi.org/10.1002/ajmg.a.34261DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3200498PMC
November 2011

The distribution of visual field defects per quadrant in standard automated perimetry as compared to frequency doubling technology perimetry.

Int Ophthalmol 2010 Dec 6;30(6):683-9. Epub 2010 Oct 6.

Children's National Medical Center, Washington, DC, USA.

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http://dx.doi.org/10.1007/s10792-010-9400-1DOI Listing
December 2010

Brittle hair, developmental delay, neurologic abnormalities, and photosensitivity in a 4-year-old girl.

J Am Acad Dermatol 2010 Aug;63(2):323-8

DNA Repair Section, Dermatology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1016/j.jaad.2010.03.041DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3464913PMC
August 2010

Lines of Blaschko and choroideremia.

Ophthalmology 2009 May;116(5):1017-8; author reply 1018

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http://linkinghub.elsevier.com/retrieve/pii/S016164200900065
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http://dx.doi.org/10.1016/j.ophtha.2009.01.025DOI Listing
May 2009

Comparison of domestic and war ocular injuries during the Lebanese Civil War.

Ophthalmologica 2009 29;223(1):36-40. Epub 2008 Oct 29.

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

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https://www.karger.com/Article/FullText/165686
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http://dx.doi.org/10.1159/000165686DOI Listing
April 2009

Recent developments in the field of superior oblique palsies.

Curr Opin Ophthalmol 2008 Sep;19(5):379-83

Children's National Medical Center, Washington, District of Columbia 20011, USA.

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http://dx.doi.org/10.1097/ICU.0b013e328309f191DOI Listing
September 2008

Assessment of the corneal endothelium in acute ultraviolet keratitis.

Med Sci Monit 2006 May;12(5):MT23-5

Department of Ophthalmology, Temple University Hospital, Philadelphia, PA 19140, USA.

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May 2006

Panretinal photocoagulation and intravitreal triamcinolone acetonide for the management of proliferative diabetic retinopathy with macular edema.

Retina 2006 Feb;26(2):137-42

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

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http://dx.doi.org/10.1097/00006982-200602000-00002DOI Listing
February 2006

Branch retinal artery occlusion following embolization of a maxillary sinus tumor.

J Med Liban 2003 Oct-Dec;51(4):228-30

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

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February 2005

Bullous keratopathy treated with honey.

Acta Ophthalmol Scand 2004 Jun;82(3 Pt 1):312-3

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http://dx.doi.org/10.1111/j.1600-0420.2004.00258.xDOI Listing
June 2004

The use of viscoelastics during pars plana vitrectomy in eyes with an anterior chamber intraocular lens.

Ophthalmic Surg Lasers Imaging 2003 Sep-Oct;34(5):413-6

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

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January 2004

Intermittent exotropia with high AC/A ratio: is it a bane to surgical cure? Some facts and fictions of the two clinical tests: occlusion of one eye and the use of +3.00 spherical lenses.

Binocul Vis Strabismus Q 2003 ;18(4):209-16

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

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January 2004

Orbital osteoma arising adjacent to a foreign body.

Ophthalmic Plast Reconstr Surg 2003 Jul;19(4):327-30

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

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http://dx.doi.org/10.1097/01.IOP.0000075021.85888.6EDOI Listing
July 2003

Bilateral subperiosteal orbital hematomas and Henoch-Schönlein purpura.

Arch Ophthalmol 2002 Oct;120(10):1398-9

Department of ophthalmology, American University of Beirut Medical Center, 113-6044, Beirut, Lebanon.

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October 2002