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Page 1
Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy.
Faridi R, Yousaf R, Gu S, Inagaki S, Turriff AE, Pelstring K, Guan B, Naik A, Griffith AJ, Adadey SM, Aboagye ET, Awandare GA, Morell RJ, Tsilou E, Noyes AG, Sulmonte LAG, Wonkam A, Schrauwen I, Leal SM, Azaiez H, Brewer CC, Riazuddin S, Hufnagel RB, Hoa M, Zein WM, de Dios JK, Friedman TB. Faridi R, et al. Among authors: tsilou e. Clin Genet. 2023 Jun;103(6):699-703. doi: 10.1111/cge.14312. Epub 2023 Mar 13. Clin Genet. 2023. PMID: 36807241
Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes.
Schultz JM, Bhatti R, Madeo AC, Turriff A, Muskett JA, Zalewski CK, King KA, Ahmed ZM, Riazuddin S, Ahmad N, Hussain Z, Qasim M, Kahn SN, Meltzer MR, Liu XZ, Munisamy M, Ghosh M, Rehm HL, Tsilou ET, Griffith AJ, Zein WM, Brewer CC, Riazuddin S, Friedman TB. Schultz JM, et al. J Med Genet. 2011 Nov;48(11):767-75. doi: 10.1136/jmedgenet-2011-100262. Epub 2011 Sep 22. J Med Genet. 2011. PMID: 21940737
Usher syndrome: hearing loss with vision loss.
Friedman TB, Schultz JM, Ahmed ZM, Tsilou ET, Brewer CC. Friedman TB, et al. Adv Otorhinolaryngol. 2011;70:56-65. doi: 10.1159/000322473. Epub 2011 Feb 24. Adv Otorhinolaryngol. 2011. PMID: 21358186 Review.
Stickler syndrome: clinical characteristics and diagnostic criteria.
Rose PS, Levy HP, Liberfarb RM, Davis J, Szymko-Bennett Y, Rubin BI, Tsilou E, Griffith AJ, Francomano CA. Rose PS, et al. Among authors: tsilou e. Am J Med Genet A. 2005 Oct 15;138A(3):199-207. doi: 10.1002/ajmg.a.30955. Am J Med Genet A. 2005. PMID: 16152640
Ocular manifestations of xeroderma pigmentosum: long-term follow-up highlights the role of DNA repair in protection from sun damage.
Brooks BP, Thompson AH, Bishop RJ, Clayton JA, Chan CC, Tsilou ET, Zein WM, Tamura D, Khan SG, Ueda T, Boyle J, Oh KS, Imoto K, Inui H, Moriwaki S, Emmert S, Iliff NT, Bradford P, Digiovanna JJ, Kraemer KH. Brooks BP, et al. Ophthalmology. 2013 Jul;120(7):1324-36. doi: 10.1016/j.ophtha.2012.12.044. Epub 2013 Apr 16. Ophthalmology. 2013. PMID: 23601806 Free PMC article.
Eyelid myxoma in Carney complex without PRKAR1A allelic loss.
Tsilou ET, Chan CC, Sandrini F, Rubin BI, Shen DF, Carney JA, Kaiser-Kupfer M, Stratakis CA. Tsilou ET, et al. Am J Med Genet A. 2004 Nov 1;130A(4):395-7. doi: 10.1002/ajmg.a.30279. Am J Med Genet A. 2004. PMID: 15368482
A 3-year randomized therapeutic trial of nitisinone in alkaptonuria.
Introne WJ, Perry MB, Troendle J, Tsilou E, Kayser MA, Suwannarat P, O'Brien KE, Bryant J, Sachdev V, Reynolds JC, Moylan E, Bernardini I, Gahl WA. Introne WJ, et al. Among authors: tsilou e. Mol Genet Metab. 2011 Aug;103(4):307-14. doi: 10.1016/j.ymgme.2011.04.016. Epub 2011 May 6. Mol Genet Metab. 2011. PMID: 21620748 Free PMC article. Clinical Trial.
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