Zobrazeno 1 - 10
of 31
pro vyhledávání: '"Erin A. Boese"'
Publikováno v:
American Journal of Ophthalmology Case Reports, Vol 34, Iss , Pp 102020- (2024)
Purpose: To report a case of unsuccessful transscleral cyclophotocoagulation in a patient with OCA1A tyrosinase-negative oculocutaneous albinism. Observations: A 35-year-old Asian female with molecularly diagnosed OCA1A (tyrosinase-negative) oculocut
Externí odkaz:
https://doaj.org/article/29d9b779a1b44a909389bbe7436c5f91
Autor:
Carly van der Heide, Wes Goar, Kacie J. Meyer, Wallace L. M. Alward, Erin A. Boese, Nathan C. Sears, Ben R. Roos, Young H. Kwon, Adam P. DeLuca, Owen M. Siggs, Claudia Gonzaga-Jauregui, Val C. Sheffield, Kai Wang, Edwin M. Stone, Robert F. Mullins, Michael G. Anderson, Bao Jian Fan, Robert Ritch, Jamie E. Craig, Janey L. Wiggs, Todd E. Scheetz, John H. Fingert
Publikováno v:
BMC Genomics, Vol 22, Iss 1, Pp 1-12 (2021)
Abstract Background Glaucoma is a leading cause of visual disability and blindness. Release of iris pigment within the eye, pigment dispersion syndrome (PDS), can lead to one type of glaucoma known as pigmentary glaucoma. PDS has a genetic component,
Externí odkaz:
https://doaj.org/article/ce7f241b20c8405bb3d1d6a9635ffb16
Autor:
Joshua Hagedorn, Armin Avdic, Michael J. Schnieders, Benjamin R. Roos, Young H. Kwon, Arlene V. Drack, Erin A. Boese, John H. Fingert
Publikováno v:
BMC Ophthalmology, Vol 20, Iss 1, Pp 1-6 (2020)
Abstract Background Nanophthalmos has a significant genetic background and disease-causing mutations have been recently been reported in the myelin regulatory factor (MYRF) gene. We report clinical features in a patient with nanophthalmos and a Thr51
Externí odkaz:
https://doaj.org/article/a773c18c5d8f47cd81a2c7d263d78637
Publikováno v:
Journal of Academic Ophthalmology, Vol 10, Iss 01, Pp e172-e178 (2018)
Abstract Objective To develop and institute a standardized ophthalmology-specific operating room checklist, and to test adherence to the surgical checklist components after implementation. Design An ophthalmology-specific operative room checklist
Externí odkaz:
https://doaj.org/article/6d81f0f2f1f64b8ba09b681dd67da88a
Autor:
Aminatta Z. Tejan-Kamara, Erin A. Boese, Andrew Pouw, Nathan C. Sears, Ben R. Roos, Edwin M. Stone, Todd, E. Scheetz, John H. Fingert
Publikováno v:
Ophthalmology Glaucoma.
Autor:
Nathaniel K. Mullin, Andrew P. Voigt, Erin A. Boese, Xiuying Liu, Edwin M. Stone, Budd A. Tucker, Robert F. Mullins
Publikováno v:
The American Journal of Pathology.
Autor:
Markus H. Kuehn, Abhigna Akurathi, Erin A. Boese, Matthew M. Harper, Johannes Ledolter, Randy H. Kardon
Publikováno v:
Current Eye Research. 47:597-605
Purpose The purpose of this study was to examine the expression of glial derived neurotrophic factor (GDNF), the GDNF receptors GFRα1 and GFRα2, ciliary neurotrophic factor (CNTF), and the CNTF receptor CNTFRα in normal and glaucomatous human tiss
Autor:
Andrew P Voigt, Nathaniel K Mullin, Kelly Mulfaul, Lola P Lozano, Luke A Wiley, Miles J Flamme-Wiese, Erin A Boese, Ian C Han, Todd E Scheetz, Edwin M Stone, Budd A Tucker, Robert F Mullins
Publikováno v:
Human Molecular Genetics. 31:2406-2423
The human choroid is a heterogeneous, highly vascular connective tissue that dysfunctions in age-related macular degeneration (AMD). In this study, we performed single-cell RNA sequencing on 21 human choroids, 11 of which were derived from donors wit
Publikováno v:
Journal of Diagnostic Medical Sonography. 37:528-534
Objective: The development of ciliochoroidal effusions and secondary acute angle-closure crisis (AACC) is an uncommon side effect of topiramate, a common antiepileptic now FDA-approved for migraine prophylaxis. The mechanisms that underlie the develo
Autor:
Kathryn P. Burdon, Patricia Graham, Johanna Hadler, John D. Hulleman, Francesca Pasutto, Erin A. Boese, Jamie E. Craig, John H. Fingert, Alex W. Hewitt, Owen M. Siggs, Kristina Whisenhunt, Terri L. Young, David A. Mackey, Andrew Dubowsky, Emmanuelle Souzeau
Publikováno v:
Human mutationREFERENCES. 43(12)
The standardization of variant curation criteria is essential for accurate interpretation of genetic results and clinical care of patients. The variant curation guidelines developed by the American College of Medical Genetics and Genomics (ACMG) and