Publications by authors named "Ekaterini Tsilou"

32Publications

Vestibular phenotype-genotype correlation in a cohort of 90 patients with Usher syndrome.

Clin Genet 2020 Oct 21. Epub 2020 Oct 21.

Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1111/cge.13868DOI Listing
October 2020

Inclusion of pregnant and breastfeeding women in research - efforts and initiatives.

Br J Clin Pharmacol 2018 02 22;84(2):215-222. Epub 2017 Oct 22.

Obstetric and Pediatric Pharmacology and Therapeutics Branch at the Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, USA.

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http://dx.doi.org/10.1111/bcp.13438DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5777434PMC
February 2018

Clinical, molecular, and cellular features of non-Puerto Rican Hermansky-Pudlak syndrome patients of Hispanic descent.

J Invest Dermatol 2011 Dec 11;131(12):2394-400. Epub 2011 Aug 11.

Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-1851, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3213276PMC
http://dx.doi.org/10.1038/jid.2011.228DOI Listing
December 2011

A 3-year randomized therapeutic trial of nitisinone in alkaptonuria.

Mol Genet Metab 2011 Aug 6;103(4):307-14. Epub 2011 May 6.

Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.ymgme.2011.04.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3148330PMC
August 2011

Ocular and orbital manifestations of the inherited bone marrow failure syndromes: Fanconi anemia and dyskeratosis congenita.

Ophthalmology 2010 Mar 22;117(3):615-22. Epub 2009 Dec 22.

Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S016164200900910
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http://dx.doi.org/10.1016/j.ophtha.2009.08.023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2830377PMC
March 2010

Neurofibromatosis type 2.

Lancet 2009 Jun 22;373(9679):1974-86. Epub 2009 May 22.

Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892-1414, USA.

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http://dx.doi.org/10.1016/S0140-6736(09)60259-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4748851PMC
June 2009

Dyskeratosis congenita: the first NIH clinical research workshop.

Pediatr Blood Cancer 2009 Sep;53(3):520-3

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland 20892, USA.

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http://dx.doi.org/10.1002/pbc.22061DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2739803PMC
September 2009

Hermansky-Pudlak syndrome type 1 in patients of Indian descent.

Mol Genet Metab 2009 Jul 2;97(3):227-33. Epub 2009 Apr 2.

Section on Human Biochemical Genetics, Medical Genetics Branch, NHGRI, NIH, 10 Center Drive, Bldg. 10, Rm 10C107, MSC1851, Bethesda, MD 20892-1851, USA.

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http://dx.doi.org/10.1016/j.ymgme.2009.03.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2694228PMC
July 2009

Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function.

Hum Mutat 2008 Apr;29(4):502-11

Section on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Maryland 20850, USA.

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http://dx.doi.org/10.1002/humu.20677DOI Listing
April 2008

Clinical and genetic heterogeneity of crystalline retinopathies: report of two families without bietti crystalline dystrophy.

Retin Cases Brief Rep 2007 ;1(4):232-5

From *Howard University Hospital, Washington, DC; and †Ophthalmic Genetics and Visual Function Branch, ‡Laboratory of Immunology, NEI, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1097/01.iae.0000232165.56434.b5DOI Listing
November 2014

Ophthalmic manifestations and histopathology of infantile nephropathic cystinosis: report of a case and review of the literature.

Surv Ophthalmol 2007 Jan-Feb;52(1):97-105

Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.survophthal.2006.10.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1850966PMC
February 2007

Ocular pathologic features of Hermansky-Pudlak syndrome type 1 in an adult.

Arch Ophthalmol 2006 Jul;124(7):1048-51

National Eye Institute, National Institutes of Health, 10 Center Drive, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1001/archopht.124.7.1048DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2478744PMC
July 2006

Nephropathic cystinosis: posterior segment manifestations and effects of cysteamine therapy.

Ophthalmology 2006 Jun 17;113(6):1002-9. Epub 2006 Apr 17.

Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892 , USA.

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http://dx.doi.org/10.1016/j.ophtha.2005.12.026DOI Listing
June 2006

Rieger's anomaly and other ocular abnormalities in association with osteogenesis imperfecta and a COL1A1 mutation.

Ophthalmic Genet 2005 Sep;26(3):135-8

Pediatric Endocrinology Inter-Institute Training Program, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1080/13816810500228993DOI Listing
September 2005

Stickler syndrome: clinical characteristics and diagnostic criteria.

Am J Med Genet A 2005 Oct;138A(3):199-207

Warren Magnuson Grant Clinical Center, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1002/ajmg.a.30955DOI Listing
October 2005

Eye movement abnormalities in hermansky-pudlak syndrome.

J AAPOS 2005 Aug;9(4):369-78

Laboratory of Sensorimotor Research, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1016/j.jaapos.2005.02.017DOI Listing
August 2005

Bilateral staphylomas in a patient with Hermansky-Pudlak syndrome.

Retina 2005 Jan;25(1):99-100

Ophthalmic Genetics and Visual Functions Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892-1857, USA.

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http://dx.doi.org/10.1097/00006982-200501000-00019DOI Listing
January 2005

Idiopathic intracranial hypertension in cystinosis.

J Pediatr 2004 Nov;145(5):673-8

Laboratory of Clinical Genomics, National Institute of Child Health and Development, Opthalmic Clinical Genetics Section, National Institutes of Health, Bethesda, MD 20892-4429, USA.

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http://dx.doi.org/10.1016/j.jpeds.2004.06.080DOI Listing
November 2004

Eyelid myxoma in Carney complex without PRKAR1A allelic loss.

Am J Med Genet A 2004 Nov;130A(4):395-7

Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, 10 Center Drive, MSC-1860, Bldg. 10 Room 10N226, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1002/ajmg.a.30279DOI Listing
November 2004

Milder ocular findings in Hermansky-Pudlak syndrome type 3 compared with Hermansky-Pudlak syndrome type 1.

Ophthalmology 2004 Aug;111(8):1599-603

Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S016164200400341
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http://dx.doi.org/10.1016/j.ophtha.2003.12.058DOI Listing
August 2004

Bilateral late posterior chamber intraocular lens dislocation with the capsular bag in a patient with gyrate atrophy.

J Cataract Refract Surg 2004 Jul;30(7):1593-4

Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, 10 Center Drive, MSC-1860, Building 10, Room 10N226, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.jcrs.2003.10.033DOI Listing
July 2004

Retinal visualization in an eye with corneal crystals using indocyanine green videoangiography.

Am J Ophthalmol 2002 Jul;134(1):123-5

Ophthalmic Genetics and Visual Function Branch, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/s0002-9394(02)01508-8DOI Listing
July 2002

Usher syndrome clinical types I and II: could ocular symptoms and signs differentiate between the two types?

Acta Ophthalmol Scand 2002 Apr;80(2):196-201

Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1034/j.1600-0420.2002.800215.xDOI Listing
April 2002

Age-related prevalence of anterior segment complications in patients with infantile nephropathic cystinosis.

Cornea 2002 Mar;21(2):173-6

Ophthalmic Genetics and Visual Function Branch, Division of Biometry and Epidemiology, National Eye Institute, National Institutes of Health, 10 Center Drive, Bldg 10,Rm 10N226, Bethesda, MD 20892, U.S.A.

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http://dx.doi.org/10.1097/00003226-200203000-00009DOI Listing
March 2002