EkateriniTsilouMD

PubMed

• 1 citations
  Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy.
  Rabia Faridi, Rizwan Yousaf, Shoujun Gu, Sayaka Inagaki, Amy E Turriff, Keith Pelstring, Bin Guan, Amelia Naik, Andrew J Griffith, Samuel Mawuli Adadey, Elvis Twumasi ...> ;Clinical Genetics. 2023 Jun 1
• 19 citations
  Vestibular phenotype-genotype correlation in a cohort of 90 patients with Usher syndrome.
  Talah T Wafa, Rabia Faridi, Kelly A. King, Christopher K. Zalewski, Rizwan Yousaf, Julie M. Schultz, Robert J. Morell, Julie A. Muskett, Amy Turriff, Ekaterini Tsilou,...> ;Clinical Genetics. 2021 Feb 1
• 40 citations
  Inclusion of Pregnant and Breastfeeding Women in Research – Efforts and Initiatives
  Sílvia M. Illamola, Christina Bucci-Rechtweg, Maged M. Costantine, Ekaterini Tsilou, Catherine M.T. Sherwin, Anne Zajicek> ;British Journal of Clinical Pharmacology. 2018 Feb 1
• 20 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, Huali Wu, Chad E. Livingston, Jian Zhao, Gregory L. Kearns, Daniel K. Benj...> ;The Journal of Pediatrics. 2018 Feb 1
• 27 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, Jamie Gao, P. Brian Smith, Kristi Prather, Daniel K. Benjamin, Scott Ma...> ;Clinical Infectious Diseases. 2016 Sep 1
• 174 citations
  Placental origins of adverse pregnancy outcomes: potential molecular targets: an Executive Workshop Summary of the Eunice Kennedy Shriver National Institute of Child H...
  John Ilekis, Ekaterini Tsilou, Susan J. Fisher, Vikki M. Abrahams, Michael J. Soares, James C. Cross, Stacy Zamudio, Nicholas P. Illsley, Leslie Myatt, Christine M. Co...> ;American Journal of Obstetrics and Gynecology. 2016 Jul 1
• 12 citations
  Cone Responses in Usher Syndrome Types 1 and 2 by Microvolt Electroretinography
  Wadih M. Zein, Benedetto Falsini, Ekaterini Tsilou, Amy Turriff, Julie M. Schultz, Thomas B. Friedman, Carmen C. Brewer, Christopher K. Zalewski, Kelly A. King, Julie ...> ;Investigative Ophthalmology & Visual Science. 2015 Jan 1
• 51 citations
  Ocular manifestations of xeroderma pigmentosum: long-term follow-up highlights the role of DNA repair in protection from sun damage.
  Brian P. Brooks, Amy H. Thompson, Rachel Bishop, Janine A. Clayton, Chi-Chao Chan, Ekaterini Tsilou, Wadih M. Zein, Deborah Tamura, Sikandar G. Khan, Takahiro Ueda, Je...> ;Ophthalmology. 2013 Jul 1
• 123 citations
  A 3-year randomized therapeutic trial of nitisinone in alkaptonuria
  Wendy J. Introne, Monique B. Perry, James Troendle, Ekaterini Tsilou, Michael A. Kayser, Pim Suwannarat, Kevin O’Brien, Joy Bryant, Vandana Sachdev, James C. Reynolds,...> ;Molecular Genetics and Metabolism. 2011 Aug 1
• 9 citations
  Peripheral retinal nonperfusion in septo-optic dysplasia (de Morsier syndrome).
  Daniel F. Kiernan, Omar Al-Heeti, Michael P. Blair, Jeremy D. Keenan, Steven J. Lichtenstein, Ekaterini Tsilou, Nizar Smaoui, Michael J. Shapiro> ;Archives of Ophthalmology. 2011 May 9
• 45 citations
  The role of Frizzled-4 mutations in familial exudative vitreoretinopathy and Coats disease
  Johane M Robitaille, B. Zheng, Karin Wallace, M. Jill Beis, Cuneyt Tatlidil, Jenny Yang, Tom G. Sheidow, Lee Siebert, Alex V. Levin, Wai Ching Lam, Brian W. Arthur, Ch...> ;The British Journal of Ophthalmology. 2011 Apr 1
• 53 citations
  Usher Syndrome: Hearing Loss with Vision Loss
  Thomas B. Friedman, Julie M. Schultz, Zubair M. Ahmed, Ekaterini Tsilou, Carmen C. Brewer> ;Advances in Oto-Rhino-Laryngology. 2011 Feb 24
• 69 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, Christopher K. Zalewski, Kelly A. King, Zubair M. Ahmed, Saima Riazuddin, Nazir Ahmad, Z...> ;Journal of Medical Genetics. 2011 Jan 1
• 21 citations
  Chediak-Higashi Syndrome with early Developmental Delay resulting from Paternal Heterodisomy of Chromosome 1
  Irini Manoli, Gretchen Golas, Wendy Westbroek, Thierry Vilboux, Thomas C. Markello, Wendy J. Introne, Dawn M. Maynard, Ben Pederson, Ekaterini Tsilou, Michael B. Jorda...> ;American Journal of Medical Genetics. Part A. 2010 Jun 1
• 63 citations
  OCULAR AND ORBITAL MANIFESTATIONS OF THE INHERITED BONE MARROW FAILURE SYNDROMES: FANCONI ANEMIA AND DYSKERATOSIS CONGENITA
  Ekaterini Tsilou, Neelam Giri, Sarah Weinstein, Christine M. Mueller, Sharon A. Savage, Blanche P. Alter> ;Ophthalmology. 2010 Mar 1
• 40 citations
  Clinical and cellular characterisation of Hermansky–Pudlak syndrome type 6
  Marjan Huizing, Ben Pederson, Richard A. Hess, Ashley Griffin, Amanda Helip-Wooley, Wendy Westbroek, Heidi Dorward, Kevin J. O'Brien, Gretchen Golas, Ekaterini Tsilou,...> ;Journal of Medical Genetics. 2009 Dec 1
• 50 citations
  Dyskeratosis congenita: The first NIH clinical research workshop
  Sharon A. Savage, Inderjeet Dokal, Mary Armanios, Geraldine Aubert, Edward W. Cowen, Demetrio L. Domingo, Neelam Giri, Mark H. Greene, Paul J. Orchard, Jakub Tolar, Ek...> ;Pediatric Blood & Cancer. 2009 Sep 1
• 24 citations
  MKS3-Related Ciliopathy with Features of Autosomal Recessive Polycystic Kidney Disease, Nephronophthisis, and Joubert Syndrome
  Meral Gunay-Aygun, Melissa A. Parisi, Dan Doherty, Maya Tuchman, Ekaterini Tsilou, David E. Kleiner, Marjan Huizing, Baris Turkbey, Peter L. Choyke, Lisa M. Guay-Woodf...> ;The Journal of Pediatrics. 2009 Sep 1
• 16 citations
  Hermansky–Pudlak syndrome type 1 in patients of Indian descent
  Lisa M. Vincent, David H. Adams, Richard A. Hess, Shira G. Ziegler, Ekaterini Tsilou, Gretchen Golas, Kevin J. O'Brien, James G. White, Marjan Huizing, William A. Gahl> ;Molecular Genetics and Metabolism. 2009 Jul 1
• 321 citations
  Neurofibromatosis type 2
  Ashok R. Asthagiri, Dilys M. Parry, John A. Butman, H. Jeffrey Kim, Ekaterini Tsilou, Zhengping Zhuang, Russell R. Lonser> ;Lancet. 2009 Jun 6
• 83 citations
  Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function.
  Saima Riazuddin, Sabiha Nazli, Zubair M. Ahmed, Yi Yang, Fareeha Zulfiqar, Rehan S. Shaikh, Ahmed U. Zafar, Shaheen N. Khan, Farooq Sabar, Fouzia T. Javid, Edward R. W...> ;Human Mutation. 2008 Apr 1
• 57 citations
  Ophthalmic Manifestations and Histopathology of Infantile Nephropathic Cystinosis: Report of a Case and Review of the Literature
  Ekaterini Tsilou, Min Zhou, William A. Gahl, Pamela C. Sieving, Chi-Chao Chan> ;Survey of Ophthalmology. 2007 Jan 1
• Clinical and genetic heterogeneity of crystalline retinopathies: report of two families without bietti crystalline dystrophy.
  O’Neil M. Biscette, Rafael C. Caruso, N. Smaoui, Benjamin I. Rubin, Mary Alice Crawford, M.R. Meltzer, Chi-Chao Chan, Ekaterini Tsilou> ;Retinal Cases & Brief Reports. 2007 Jan 1
• 7 citations
  Ocular pathologic features of Hermansky-Pudlak syndrome type 1 in an adult.
  Min Zhou, Libe Gradstein, John A. Gonzales, Ekaterini Tsilou, William A. Gahl, Chi-Chao Chan> ;Archives of Ophthalmology. 2006 Jul 1
• 51 citations
  Nephropathic cystinosis: posterior segment manifestations and effects of cysteamine therapy.
  Ekaterini Tsilou, Benjamin I. Rubin, George W. Reed, Rafael C. Caruso, Fumino Iwata, Joan Z. Balog, William A. Gahl, Muriel I. Kaiser-Kupfer> ;Ophthalmology. 2006 Jun 1
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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
• 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
• 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
• 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
• 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
• 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
• 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
• 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
• 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
• 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
• 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
• 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
• 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
• 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
• 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
• 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
• 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
• 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
• 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
• 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
• 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
• 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
• 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
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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