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Ekaterini Tsilou

Research Profile

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TOP 3
Carmelo Carmona-Rivera; Nicholas D Cardillo; Bernadette R Gochuico; Gretchen Golas; Richard A Hess; Marjan Huizing; Elijah H Martin; Kevin O'Brien; Ekaterini T Tsilou; James G White; William A Gahl
Clinical, molecular, and cellular features of non-Puerto Rican Hermansky-Pudlak syndrome patients of Hispanic descent.
Julie M Schultz; Ekaterini T Tsilou; Amy Turriff; Christopher K Zalewski; Wadih M Zein; Nazir Ahmad; Zubair M Ahmed; Rashid Bhatti; Carmen C Brewer; Manju Ghosh; Andrew J Griffith; Zawar Hussain; Shaheen N Kahn; Kelly A King; Xue Zhong Liu; Anne C Madeo; Meira R Meltzer; Murali Munisamy; Julie A Muskett; Muhammad Qasim; Heidi L Rehm; Sheikh Amer Riazuddin; Saima Riazuddin; Thomas B Friedman
Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes.
C Carmona-Rivera; K O'Brien; G Golas; Ekaterini T Tsilou; W A Gahl; R A Hess; J G White; Marjan Huizing
Novel mutations in the HPS1 gene among Puerto Rican patients.

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All Publications

2011: Carmelo Carmona-Rivera; Nicholas D Cardillo; Bernadette R Gochuico; Gretchen Golas; Richard A Hess; Marjan Huizing; Elijah H Martin; Kevin O'Brien; Ekaterini T Tsilou; James G White; William A Gahl
Clinical, molecular, and cellular features of non-Puerto Rican Hermansky-Pudlak syndrome patients of Hispanic descent.
The Journal of investigative dermatology 2011;131(12):2394-400.
2011: Julie M Schultz; Ekaterini T Tsilou; Amy Turriff; Christopher K Zalewski; Wadih M Zein; Nazir Ahmad; Zubair M Ahmed; Rashid Bhatti; Carmen C Brewer; Manju Ghosh; Andrew J Griffith; Zawar Hussain; Shaheen N Kahn; Kelly A King; Xue Zhong Liu; Anne C Madeo; Meira R Meltzer; Murali Munisamy; Julie A Muskett; Muhammad Qasim; Heidi L Rehm; Sheikh Amer Riazuddin; Saima Riazuddin; Thomas B Friedman
Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes.
Journal of medical genetics 2011;48(11):767-75.
2011: C Carmona-Rivera; K O'Brien; G Golas; Ekaterini T Tsilou; W A Gahl; R A Hess; J G White; Marjan Huizing
Novel mutations in the HPS1 gene among Puerto Rican patients.
Clinical genetics 2011;79(6):561-7.
2011: Daniel F Kiernan; Omar Al-Heeti; Michael P Blair; Jeremy D Keenan; Steven J Lichtenstein; Ekaterini T Tsilou; Nizar Smaoui; Michael J Shapiro
Peripheral retinal nonperfusion in septo-optic dysplasia (de Morsier syndrome).
Archives of ophthalmology 2011;129(5):671-3.
2011: Thomas B Friedman; Julie M Schultz; Zubair M Ahmed; Ekaterini T Tsilou; Carmen C Brewer
Usher syndrome: hearing loss with vision loss.
Advances in oto-rhino-laryngology 2011;70():56-65.
2010: M B Lodish; L A Gartner; P Albini; Gauri Sabnis; Angela Brodie; Jeanne M Meck; Aurelia Meloni-Ehrig; S Hill; Ekaterini T Tsilou; V A Valera; B A Walter; Maria J Merino; Constantine Straturis
Intrauterine growth retardation associated with precocious puberty and sertoli cell hyperplasia.
Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et métabolisme 2010;42(9):682-8.
2010: Irini Manoli; Gretchen Golas; Wendy Westbroek; Thierry Vilboux; Thomas C Markello; Wendy Introne; Dawn Maynard; Ben Pederson; Ekaterini T Tsilou; Michael B Jordan; P Suzanne Hart; James G White; William A Gahl; Marjan Huizing
Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1.
American journal of medical genetics. Part A 2010;152A(6):1474-83.
2010: Ekaterini T Tsilou; Neelam Giri; Sarah Weinstein; Christine Mueller; Sharon A Savage; BLANCHE ALTER
Ocular and orbital manifestations of the inherited bone marrow failure syndromes: Fanconi anemia and dyskeratosis congenita.
Ophthalmology 2010;117(3):615-22.
2009: Marjan Huizing; B Pederson; R A Hess; A Griffin; Amanda Helip-Wooley; Wendy Westbroek; Heidi Dorward; K J O'Brien; G Golas; Ekaterini T Tsilou; James G White; William A Gahl
Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6.
Journal of medical genetics 2009;46(12):803-10.
2009: Meral Gunay-Aygun; Melissa A Parisi; Dan Doherty; Maya Tuchman; Ekaterini T Tsilou; David E Kleiner; Marjan Huizing; Baris Turkbey; Peter Choyke; Lisa M Guay-Woodford; Theo Heller; Katarzyna Szymanska; Colin A Johnson; Ian Glass; William A Gahl
MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome.
The Journal of pediatrics 2009;155(3):386-92.e1.
2009: Lisa M Vincent; David Adams; Richard A Hess; Shira G Ziegler; Ekaterini T Tsilou; Gretchen Golas; Kevin J O'Brien; James G White; Marjan Huizing; William A Gahl
Hermansky-Pudlak syndrome type 1 in patients of Indian descent.
Molecular genetics and metabolism 2009;97(3):227-33.
2009: Ashok R Asthagiri; Dilys M Parry; John A Butman; H Jeffrey Kim; Ekaterini T Tsilou; Zhengping Zhuang; Russell R Lonser
Neurofibromatosis type 2.
Lancet 2009;373(9679):1974-86.
2009: Melissa A Merideth; Lisa M Vincent; Susan E Sparks; Richard A Hess; Irini Manoli; Kevin J O'Brien; Ekaterini T Tsilou; James G White; Marjan Huizing; William A Gahl
Hermansky-Pudlak syndrome in two African-American brothers.
American journal of medical genetics. Part A 2009;149A(5):987-92.
2007: Wendy Westbroek; David Adams; Marjan Huizing; Amy Koshoffer; Heidi Dorward; Bradford Tinloy; Jennifer Parkes; Amanda Helip-Wooley; Robert Kleta; Ekaterini T Tsilou; Patrice Duvernay; Kathleen B Digre; Donnell J Creel; James G White; Raymond E Boissy; William A Gahl
Cellular defects in Chediak-Higashi syndrome correlate with the molecular genotype and clinical phenotype.
The Journal of investigative dermatology 2007;127(11):2674-7.
2007: Ekaterini T Tsilou; Min Zhou; William A Gahl; Pamela Sieving; Chi-Chao Chan
Ophthalmic manifestations and histopathology of infantile nephropathic cystinosis: report of a case and review of the literature.
Survey of ophthalmology 2007;52(1):97-105.
2006: Min Zhou; Libe Gradstein; John A Gonzales; Ekaterini T Tsilou; William A Gahl; Chi-Chao Chan
Ocular pathologic features of Hermansky-Pudlak syndrome type 1 in an adult.
Archives of ophthalmology 2006;124(7):1048-51.
2006: Ekaterini T Tsilou; Benjamin I Rubin; George Reed; Rafael C Caruso; Fumino Iwata; Joan Z Balog; William A Gahl; Muriel I Kaiser-Kupfer
Nephropathic cystinosis: posterior segment manifestations and effects of cysteamine therapy.
Ophthalmology 2006;113(6):1002-9.
2005: Peter S Rose; HOWARD LEVY; Ruth M Liberfarb; Joie Davis; Yvonne M Szymko-Bennett; Benjamin I Rubin; Ekaterini T Tsilou; Andrew J Griffith; Clair A Francomano
Stickler syndrome: clinical characteristics and diagnostic criteria.
American journal of medical genetics. Part A 2005;138A(3):199-207.
2005: Benjamin U Nwosu; Margarita Raygada; Ekaterini T Tsilou; Owen Rennert; Constantine Straturis
Rieger's anomaly and other ocular abnormalities in association with osteogenesis imperfecta and a COL1A1 mutation.
Ophthalmic genetics 2005;26(3):135-8.
2005: Libe Gradstein; Edmond J Fitzgibbon; Ekaterini T Tsilou; Benjamin I Rubin; Marjan Huizing; William A Gahl
Eye movement abnormalities in hermansky-pudlak syndrome.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus / American Association for Pediatric Ophthalmology and Strabismus 2005;9(4):369-78.
2005: Pim Suwannarat; Kevin O'Brien; Monique B Perry; Nancy G Sebring; Isa Bernardini; Muriel I Kaiser-Kupfer; Benjamin I Rubin; Ekaterini T Tsilou; Lynn H Gerber; William A Gahl
Use of nitisinone in patients with alkaptonuria.
Metabolism: clinical and experimental 2005;54(6):719-28.
2005: Johnny Tang; Ekaterini T Tsilou; Rafael C Caruso; Benjamin Rubin; William A Gahl
Bilateral staphylomas in a patient with Hermansky-Pudlak syndrome.
Retina (Philadelphia, Pa.) 2005;25(1):99-100.
2004: Cigdem F Dogulu; Ekaterini T Tsilou; Benjamin Rubin; Edmond J Fitzgibbon; Muriel I Kaiser-Kupper; Owen Rennert; William A Gahl
Idiopathic intracranial hypertension in cystinosis.
The Journal of pediatrics 2004;145(5):673-8.
2004: Ekaterini T Tsilou; Chi-Chao Chan; Fabiano Sandrini; Benjamin I Rubin; De Fen Shen; J Aidan Carney; Muriel I Kaiser-Kupfer; Constantine Straturis
Eyelid myxoma in Carney complex without PRKAR1A allelic loss.
American journal of medical genetics. Part A 2004;130A(4):395-7.
2004: Ekaterini T Tsilou; Benjamin I Rubin; George F Reed; Lessie McCain; Marjan Huizing; James White; Muriel I Kaiser-Kupfer; William A Gahl
Milder ocular findings in Hermansky-Pudlak syndrome type 3 compared with Hermansky-Pudlak syndrome type 1.
Ophthalmology 2004;111(8):1599-603.
2004: Ekaterini T Tsilou; Benjamin I Rubin; Fabian A Abraham; Muriel I Kaiser-Kupfer
Bilateral late posterior chamber intraocular lens dislocation with the capsular bag in a patient with gyrate atrophy.
Journal of cataract and refractive surgery 2004;30(7):1593-4.
2003: Ruth M Liberfarb; HOWARD LEVY; Peter S Rose; Douglas J Wilkin; Joie Davis; Joan Z Balog; Andrew J Griffith; Yvonne M Szymko-Bennett; jennifer johnston; Clair A Francomano; Ekaterini T Tsilou; Benhamin I Rubin
The Stickler syndrome: genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1.
Genetics in medicine : official journal of the American College of Medical Genetics 2003;5(1):21-7.
2003: Ekaterini T Tsilou; D Thompson; A S Lindblad; George F Reed; Benjamin Rubin; William A Gahl; Jess G Thoene; Monte A Delmonte; Jerry A Schneider; D B Granet; Muriel I Kaiser-Kupfer
A multicentre randomised double masked clinical trial of a new formulation of topical cysteamine for the treatment of corneal cystine crystals in cystinosis.
The British journal of ophthalmology 2003;87(1):28-31.
2002: Ekaterini T Tsilou; Karl G Csaky; Benjamin I Rubin; William A Gahl; Muriel I Kaiser-Kupfer
Retinal visualization in an eye with corneal crystals using indocyanine green videoangiography.
American journal of ophthalmology 2002;134(1):123-5.
2002: Ekaterini T Tsilou; Benjamin I Rubin; Rafael C Caruso; George F Reed; Anita Pikus; J Fielding Hejtmancik; Fumino Iwata; Joy B Redman; Muriel I Kaiser-Kupfer
Usher syndrome clinical types I and II: could ocular symptoms and signs differentiate between the two types?
Acta ophthalmologica Scandinavica 2002;80(2):196-201.
2002: Ekaterini T Tsilou; Benjamin I Rubin; George F Reed; Fumino Iwata; William A Gahl; Muriel I Kaiser-Kupfer
Age-related prevalence of anterior segment complications in patients with infantile nephropathic cystinosis.
Cornea 2002;21(2):173-6.
2001: Ekaterini T Tsilou; Constantine Straturis; Benjamin I Rubin; B N Hay; N Patronas; Muriel I Kaiser-Kupfer
Ophthalmic manifestations of Allgrove syndrome: report of a case.
Clinical dysmorphology 2001;10(3):231-3.
2001: Ekaterini T Tsilou; Benjamin I Rubin; Rafael C Caruso; Muriel I Kaiser-Kupfer
A case of Alport's syndrome and retinal degeneration.
Retina (Philadelphia, Pa.) 2001;21(1):89-92.
1997: Ekaterini T Tsilou; Christian P Hamel; S Yu; T Michael Redmond
RPE65, the major retinal pigment epithelium microsomal membrane protein, associates with phospholipid liposomes.
Archives of biochemistry and biophysics 1997;346(1):21-7.