EkateriniTsilouMD

PubMed

• 24 citations
  Obese Children Require Lower Doses of Pantoprazole Than Nonobese Peers to Achieve Equal Systemic Drug Exposures.
  Valentina Shakhnovich, P. Brian Smith, Jeffrey T. Guptill, Laura P. James, David N. Collier
  The Journal of Pediatrics. 2018-02-01
• 72 citations
  Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes
  Julie M. Schultz, Rashid Bhatti, Anne C. Madeo, Amy Turriff, Julie A. Muskett
  Journal of Medical Genetics. 2011-01-01
• 29 citations
  Fluconazole Prophylaxis for the Prevention of Candidiasis in Premature Infants: A Meta-analysis Using Patient-level Data
  Jessica E. Ericson, David A. Kaufman, Stephen D. Kicklighter, Jatinder Bhatia, Daniela Testoni
  Clinical Infectious Diseases. 2016-09-01

Journal Articles

• Cone responses in Usher syndrome types 1 and 2 by microvolt electroretinography  
  Zein WM, Falsini B, Tsilou ET, Turriff AE, Schultz JM, Friedman TB, Brewer CC, Zalewski CK, King KA, Muskett JA, Rehman AU, Morell RJ, Griffith AJ, Sieving PA, Invest Ophthalmol Vis Sci, 1/1/2014
• Hermansky-Pudlak syndrome in two African-American brothers  
  Merideth MA, Vincent LM, Sparks SE, Hess RA, Manoli I, O Brien KJ, Tsilou E, White JG, Huizing M, Gahl WA, Am J Med Genet A, 1/1/2009
• Proliferative Retinopathy as a Complication of Dyskeratosis Congenita Case Report and Review of the Literature  
  Mason, III JO, Yunker JJ, Nixon PA, Tsilou E, Giri N, Alter BP, Retinal cases and Brief Reports, 1/1/2009
• Cellular defects in Chediak-Higashi syndrome correlate with the molecular genotype and clinical phenotype  
  Westbroek W, Adams D, Huizing M, Koshoffer A, Dorward H, Tinloy B, Parkes J, Helip-Wooley A, Kleta R, Tsilou E, Duvernay P, Digre KB, Creel DJ, White JG, Boissy RE, Ga..., J Invest Dermatol, 1/1/2007
• Clinical and Genetic Heterogeneity of Crystalline Retinopathies: Report of two families without Bietti Crystalline Dystrophy  
  Biscette O, Caruso RC, Smaoui N, Rubin BI, Crawford MA, Meltzer MR, Chan CC, Tsilou E, Retinal cases and Brief Reports, 1/1/2007
• Ocular Pathology of Hermansky-Pudlak Syndrome Type 1 in an Adult  
  Zhou M, Gradstein L, Gonzales JA, Tsilou ET, Gahl WA, Chan CC, Arch Ophthalmol, 1/1/2006
• Nephropathic Cystinosis Posterior Segment Manifestations and Effects of Cysteamine Therapy  
  Tsilou ET, Rubin BI, Reed G, et al, Ophthalmology, 1/1/2006
• Use of Nitisinone in Patients with Alkaptonuria  
  Suwannarat P, O'Brien K, Perry MB, Sebring N, Bernardini I, Kaiser-Kupfer MI, Rubin BI, Tsilou E, Gerber LH, Gahl WA, Metabolism, 1/1/2005
• Rieger’s anomaly and other ocular abnormalities in association with osteogenesis imperfecta and a COL1A1 mutation  
  Nwosu BU, Raygada M, Tsilou ET, Rennert OM, Stratakis CA, Ophthalmic Genet, 1/1/2005
• Bilateral Staphylomas in a Patient with Hermansky-Pudlak Syndrome  
  Tang J, Tsilou E, Caruso RC, Gahl W, Rubin B and Kaiser-Kupfer MI, Retina, 1/1/2005
• Eyelid myxoma in Carney complex: lack of PRKAR1A allelic loss in a c578delTG-associated tumor  
  Tsilou ET, Chan CC, Sandrini F, Rubin BI, Shen D, Carney CA, Kaiser-Kupfer M, Stratakis CA, Am J Med Genet, 1/1/2004
• Bilateral Late Posterior Chamber Intraocular Lens Dislocation with the Capsular Bag in a Patient with Gyrate Atrophy of the Choroid and Retina  
  Tsilou E, Rubin BI, Abraham FA and Kaiser-Kupfer M, J of Cataract Refract Surg, 1/1/2004
• Milder Ocular Findings in Hermansky-Pudlak Syndrome Type-3 Compared with Hermansky-Pudlak Syndrome type-1  
  Tsilou E, Rubin BI, Reed G, McCain L, Huizing M, White J, Kaiser-Kupfer MI and Gahl W, Ophthalmology, 1/1/2004
• The Stickler syndrome: genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1  
  Liberfarb RM, Levy HP, Rose PS, Wilkin DJ, Davis J, Balog JZ, Griffith AJ, Szymko-Bennett YM, Johnston JJ, Francomano CA, Tsilou E, Rubin BI, Genet Med, 1/1/2003
• Onset of oscillopsia after visual maturation in patients with congenital nystagmus  
  Hertle RW, FitzGibbon EJ, Avallone JM, Cheeseman E, Tsilou EK, Ophthalmology, 1/1/2001
• Transcleral infrared laser for retinal ablation without retinal visualization in an experimental model  
  Steidl SM, TsilouE, Choe H, Retina, 1/1/2000
• RPE65, the Major Retinal Epithelium Microsomal Membrane Protein, Associates with Phospholipid Liposomes  
  Tsilou E.T., Hamel C., Yu S., Redmond M., Archives of Biochemistry and Biophysics, 1/1/1997
• Molecular Cloning and Expression of RPE65, a novel Retinal Pigment Epithelium-Specific Microsomal Protein that is post-transcriptionally regulated in Vitro  
  Hamel C., Tsilou E.T., Pfeffer B., Hooks J., Detrick B., Redmond T.M., Journal of Biological Chemistry, 1/1/1993
• Developmentally Regulated Microsomal Protein Specific for the Pigment Epithelium of the Vertebrate Retina  
  Hamel C.P., Tsilou E.T.,Harris E., Pfeffer B.A., Hooks J.J. Detrick B., Redmond T.M., Journal of Neuroscience Research, 1/1/1993
• Identification and Characterisation of Arylamine N-acetyltransferase activity from the Bovine Retinal Pigment Epithelium  
  Gaudet S., Tsilou E.T., Chader G., Current Eye Research, 1/1/1993
• Weill-Marchesani Syndrome  
  Tsilou E., Macdonald I, Gene Reviews
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Books/Book Chapters

• Health Care for People with Intellectual and Developmental Disabilities across the Lifespan 
  Chapter: Chapter 72: Clinical trials. 
  Tsilou E, Zajicek AEditors: Rubin and Crocker.Edition 3rd,
• Advances In Oto-Rhino-Laryngology - "Medical Genetics in the Clinical Practice of ORL 
  Chapter: Hearing loss with vision loss. 
  Friedman TB, Schultz JM, Ahmed Z, Tsilou ET, Brewer C

Abstracts/Posters

• Clinicoradiographic findings in patients with neurofibromatosis type 2 without bilateral vestibular schwannomas.
  Dewan R, Zalewski C, Brewer C, King K, Tsilou E, Kim J, Germanwala A, American Association of Neurological Surgeons Meeting, 1/1/2014
• Microvolt Cone Electroretinography in Type 1 and 2 Usher Syndrome.
  Zein WM, Tsilou ET, Turriff AE, Schultz JM, Muskett JA, Brewer CC, Zalewski CK, King KA, Sieving PA, Falsini B, Association for Research in Vision and Ophthalmology (ARVO), 1/1/2013
• Ophthalmic Findings in Patients with Joubert Syndrome.
  Mokhtarzadeh M, Gunay-Aygun M, Gahl W, Tsilou E, Zein W, Brooks B, Association for Research in Vision and Ophthalmology (ARVO), 1/1/2012
• Nitisinone use in Alkaptonuria: results of a three year trial.
  Introne WJ, Perry MB, Kayser MA, Suwannarat P, O'Brien KE, Bryant J, Troendle J, Tsilou E, Sachdev V, Reynolds J, Moylan E, Bernardini I, Gahl WA, Society of Inherited Metabolic Disorders Meeting, 1/1/2010
• Phenotype-genotype association in autosomal dominant familial exudative vitreoretinopathy (FEVR) and retinopathy of prematurity (ROP) caused by FZD4 mutations.
  Robitaille JM, Wallace K, Zheng B, Ells A, DaSilva A, Sheidow T, Siebert L, Allen A, Vincer M, Levin A, Arthur B, Lyons C, Jaakkola E, Tsilou E, Williams C, Weaver RG ..., Canadian Ophthalmology Society Meeting, 1/1/2010
• Functional impact of missense mutations in low-density-lipoprotein receptor-related protein 5 (LRP5) associated with Familial Exudative Vitreoretinopathy (FEVR).
  Tsilou E, Smaoui N, Meltzer M, Toomes C, Sergeev Y, Association for Research in Vision and Ophthalmology (ARVO), 1/1/2010
• Ophthalmic manifestations of the Inherited Bone Marrow Failure Syndromes.
  Tsilou E, Giri N, Weinstein S, Mueller C, Savage S, Alter B, Association for Research in Vision and Ophthalmology (ARVO), 1/1/2009
• Comparison of 2 large American families of Northern European descent with autosomal dominant retinitis pigmentosa caused by mutations in PRPF8 and PRPF31.
  Meltzer, M.R., Caruso, R.C., Blain, D., Kohl, S., and Tsilou E, Annual Meeting of the American College of Medical Genetics, Phoenix, AZ, 1/1/2008
• Mutation detection rate and genotype-phenotype correlations in patients with mutations in Ush2A, the gene encoding for Usherin.
  E. Tsilou, J. Schultz, M. Meltzer, R. Caruso, A. Griffith, A. Madeo, C. Brewer, C. Zalewski, and T. Friedman, American Society of Human Genetics, 1/1/2007
• Balance Function in Individuals with Usher Syndrome.
  Brewer, C., Zalewski, C., Schultz, J., Madeo, A., Meltzer, M., Friedman, T, Tsilou, E., Griffith, A, American Auditory Society meeting, 1/1/2007
• Comprehensive Balance Assessment in Usher Syndrome.
  Brewer, C., Zalewski, C., Schultz, J., Madeo, A., Meltzer, M., Tsilou, E., Griffith, A., Friedman, T, American Academy of Audiology meeting, 1/1/2007
• Genotype-phenotype correlations of R245X of PCDH15 encoding protocadherin-15.
  Tsilou E, Schultz J, Meltzer M, Caruso R, Griffith A, Madeo A, Brewer C, Zalewski C, Reed G and Friedman T, Association for Research in Vision and Ophthalmology (ARVO), 1/1/2006
• Some mutant alleles of type 1 Usher syndrome genes cause nonsyndromic deafness: A molecular genetic model and significance for development of therapeutic interventions.
  Ahmed ZM, Riazuddin S, Madeo A, Meltzer M, Ben-Yosef T; Riazuddin S, Tsilou E, Griffith A, Schultz JM, Friedman TB, 1st International symposium on Usher syndrome and other related disorders, 1/1/2006
• Allelic interaction and phenotypic expression of novel CDH23 mutations associated with Usher syndrome or nonsyndromic deafness.
  Schultz JM, Yang Y, Madeo AC, Meltzer M, Tsilou E, Friedman TB, Griffith AJ, 1st International symposium on Usher syndrome and other related disorders, 1/1/2006
• Ophthalmic Manifestations of Fanconi Anemia.
  Tsilou E, Alter BP, Association for Research in Vision and Ophthalmology (ARVO), 1/1/2005
• Fanconi s Anemia Endocrinopathies in Association with Structural Central Nervous System Malformations.
  Giri N, Batista D, Yu K, Ning C, Parker E, Stratakis C, Tsilou E, and Alter BP, Pediatric Academic Societies' Meeting, 1/1/2005
• Therapeutic Use of Nitisinone in Alkaptonuria.
  Suwannarat P, Bernardini I, Tsilou E, Rubin B , Perry MB, Gerber L, O’Brien K, G Gahl WA, SIMD Meeting, 1/1/2004
• Posterior Segment Manifestations of Infantile Nephropathic Cystinosis.
  Tsilou E, Caruso R, Rubin BI, Kaiser-Kupfer MI and Gahl W, Association for Research in Vision and Ophthalmology (ARVO), 1/1/2004
• Eye Movement Abnormalities in Hermansky-Pudlak Syndrome.
  Gradstein L, FitzGibbon EJ, Tsilou E, Kaiser-Kupfer MI, Huizing M, Gahl WA, AAPOS Meeting, 1/1/2004
• Eyelid Myxoma in Carney Complex: Prevalence, Histo-pathology & Genetics.
  Tsilou E.T., Chan CC, Rubin BI, Shen D, Sadrini F, Stratakis CA, Kaiser-Kupfer M, Association for Research in Vision and Ophthalmology (ARVO), 1/1/2003
• A pilot study of Nitisinone in Alkaptonuria.
  Suwannarat P, Bernardini I, Kaiser-Kupfer M, Tsilou E, Rubin B, O’Brien K, Gahl W, American Society of Human Genetics (ASHG) Meeting, 1/1/2003
• Ophthalmic heterogeneity in the Hermansky-Pudlak syndrome.
  Tsilou E, Rubin BI, Reed G, McCain L, Gahl W, Kaiser-Kupfer M, Association for Research in Vision and Ophthalmology (ARVO), 1/1/2002
• Late-onset anterior segment manifestations of infantile nephropathic cystinosis.
  Tsilou E, Rubin BI, Reed GF, Iwata F, Gahl W, Kaiser-Kupfer MI, Association for Research in Vision and Ophthalmology (ARVO), 1/1/2001
• Natural History of Usher syndrome and comparison of severity of Usher type I and II.
  Tsilou E., Rubin B., Caruso R., Reed G., Hejtmancik J.F., Iwata F., Redman J. and Kaiser-Kupfer M, Association for Research in Vision and Ophthalmology (ARVO), 1/1/2000
• Onset of oscillopsia after visual maturation in patients with congenital nystagmus.
  Hertle R.W., Cheeseman E, Avallone JM and Tsilou E, American Academy of Ophthalmology Meeting, 1/1/2000
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Lectures

• Principles of Clinical Pharmacology 
  1/26/2012
• Ethical and Regulatory Aspects of Human Subject Research. 
  1/1/2003

Other

• Usher Syndrome Website: A joint resource from the National Eye Institute and the National Institute on Deafness and Other Communication Disorders. 
  Friedman, T, Madeo, A, Meltzer, MR, Tsilou, E, National Eye Institute, National Institute on Deafness and Other Communication Disorders, National I
  http://www.ushersyndrome.nih.gov
  1/1/2008