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132 results

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Page 1
Benign Yellow Dot Maculopathy: A New Macular Phenotype.
Dev Borman A, Rachitskaya A, Suzani M, Sisk RA, Ahmed ZM, Holder GE, Cipriani V, Arno G, Webster AR, Hufnagel RB, Berrocal A, Moore AT. Dev Borman A, et al. Among authors: hufnagel rb. Ophthalmology. 2017 Jul;124(7):1004-1013. doi: 10.1016/j.ophtha.2017.02.026. Epub 2017 Mar 31. Ophthalmology. 2017. PMID: 28366503 Free PMC article.
DICER1 Syndrome: Characterization of the Ocular Phenotype in a Family-Based Cohort Study.
Huryn LA, Turriff A, Harney LA, Carr AG, Chevez-Barrios P, Gombos DS, Ram R, Hufnagel RB, Hill DA, Zein WM, Schultz KAP, Bishop R, Stewart DR. Huryn LA, et al. Among authors: hufnagel rb. Ophthalmology. 2019 Feb;126(2):296-304. doi: 10.1016/j.ophtha.2018.09.038. Epub 2018 Oct 17. Ophthalmology. 2019. PMID: 30339877 Free PMC article.
Ocular and Systemic Findings in Adults with Uveal Coloboma.
Daich Varela M, Huryn LA, Hufnagel RB, Zein WM, Blain D, Brooks BP. Daich Varela M, et al. Among authors: hufnagel rb. Ophthalmology. 2020 Dec;127(12):1772-1774. doi: 10.1016/j.ophtha.2020.05.028. Epub 2020 May 17. Ophthalmology. 2020. PMID: 32434002 Free PMC article.
Baseline Visual Field Findings in the RUSH2A Study: Associated Factors and Correlation With Other Measures of Disease Severity.
Duncan JL, Liang W, Maguire MG, Audo I, Ayala AR, Birch DG, Carroll J, Cheetham JK, Esposti SD, Durham TA, Erker L, Farsiu S, Ferris FL 3rd, Heon E, Hufnagel RB, Iannaccone A, Jaffe GJ, Kay CN, Michaelides M, Pennesi ME, Sahel JA; Foundation Fighting Blindness Consortium Investigator Group. Duncan JL, et al. Among authors: hufnagel rb. Am J Ophthalmol. 2020 Nov;219:87-100. doi: 10.1016/j.ajo.2020.05.024. Epub 2020 May 22. Am J Ophthalmol. 2020. PMID: 32446738 Free PMC article.
A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis.
Schiff ER, Daich Varela M, Robson AG, Pierpoint K, Ba-Abbad R, Nutan S, Zein WM, Ullah E, Huryn LA, Tuupanen S, Mahroo OA, Michaelides M, Burke D, Harvey K, Arno G, Hufnagel RB, Webster AR. Schiff ER, et al. Among authors: hufnagel rb. Am J Med Genet C Semin Med Genet. 2020 Sep;184(3):631-643. doi: 10.1002/ajmg.c.31822. Epub 2020 Aug 7. Am J Med Genet C Semin Med Genet. 2020. PMID: 32770643 Free PMC article.
Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort.
Prasov L, Guan B, Ullah E, Archer SM, Ayres BM, Besirli CG, Wiinikka-Buesser L, Comer GM, Del Monte MA, Elner SG, Garnai SJ, Huryn LA, Johnson K, Kamat SS, Lieu P, Mian SI, Rygiel CA, Serpen JY, Pawar HS, Brooks BP, Moroi SE, Richards JE, Hufnagel RB. Prasov L, et al. Among authors: hufnagel rb. Sci Rep. 2020 Nov 17;10(1):19986. doi: 10.1038/s41598-020-76725-8. Sci Rep. 2020. PMID: 33203948 Free PMC article.
132 results