Pesquisa | BVS Doenças Infecciosas e Parasitárias

1.

Gene Editing for CEP290-Associated Retinal Degeneration.

Pierce, Eric A; Aleman, Tomas S; Jayasundera, Kanishka T; Ashimatey, Bright S; Kim, Keunpyo; Rashid, Alia; Jaskolka, Michael C; Myers, Rene L; Lam, Byron L; Bailey, Steven T; Comander, Jason I; Lauer, Andreas K; Maguire, Albert M; Pennesi, Mark E.

N Engl J Med ; 390(21): 1972-1984, 2024 Jun 06.

Artigo em Inglês | MEDLINE | ID: mdl-38709228

2.

FOVEAL PHENOTYPES IN CHOROIDEREMIA ON ADAPTIVE OPTICS SCANNING LIGHT OPHTHALMOSCOPY.

Wynne, Niamh; Jiang, Yu You; Aleman, Tomas S; Morgan, Jessica I W.

Retina ; 44(4): 659-668, 2024 Apr 01.

Artigo em Inglês | MEDLINE | ID: mdl-38531059

3.

Ocular Biomarkers of Riboflavin Transporter Deficiency.

Bulas, Sabrina; Bedoukian, Emma C; O'Neil, Erin C; Krantz, Ian D; Yum, Sabrina W; Liu, Grant T; Aleman, Tomas S.

J Neuroophthalmol ; 43(1): 110-115, 2023 03 01.

Artigo em Inglês | MEDLINE | ID: mdl-35921603

4.

Adeno-Associated Virus Serotype 2-hCHM Subretinal Delivery to the Macula in Choroideremia: Two-Year Interim Results of an Ongoing Phase I/II Gene Therapy Trial.

Aleman, Tomas S; Huckfeldt, Rachel M; Serrano, Leona W; Pearson, Denise J; Vergilio, Grace K; McCague, Sarah; Marshall, Kathleen A; Ashtari, Manzar; Doan, Tu M; Weigel-DiFranco, Carol A; Biron, Bethany S; Wen, Xiao-Hong; Chung, Daniel C; Liu, Emily; Ferenchak, Kevin; Morgan, Jessica I W; Pierce, Eric A; Eliott, Dean; Bennett, Jean; Comander, Jason; Maguire, Albert M.

Ophthalmology ; 129(10): 1177-1191, 2022 10.

Artigo em Inglês | MEDLINE | ID: mdl-35714735

5.

Clinical Perspective: Treating RPE65-Associated Retinal Dystrophy.

Maguire, Albert M; Bennett, Jean; Aleman, Elena M; Leroy, Bart P; Aleman, Tomas S.

Mol Ther ; 29(2): 442-463, 2021 02 03.

Artigo em Inglês | MEDLINE | ID: mdl-33278565

6.

Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice.

Garnai, Sarah J; Brinkmeier, Michelle L; Emery, Ben; Aleman, Tomas S; Pyle, Louise C; Veleva-Rotse, Biliana; Sisk, Robert A; Rozsa, Frank W; Ozel, Ayse Bilge; Li, Jun Z; Moroi, Sayoko E; Archer, Steven M; Lin, Cheng-Mao; Sheskey, Sarah; Wiinikka-Buesser, Laurel; Eadie, James; Urquhart, Jill E; Black, Graeme C M; Othman, Mohammad I; Boehnke, Michael; Sullivan, Scot A; Skuta, Gregory L; Pawar, Hemant S; Katz, Alexander E; Huryn, Laryssa A; Hufnagel, Robert B; Camper, Sally A; Richards, Julia E; Prasov, Lev.

PLoS Genet ; 15(5): e1008130, 2019 05.

Artigo em Inglês | MEDLINE | ID: mdl-31048900

7.

Compound Heterozygous Mutations in ZNF408 in a Patient with a Late Onset Pigmentary Retinopathy and Relatively Preserved Central Retina.

Nadelmann, Jennifer B; O'Neil, Erin C; Kim, Dale S; Juusola, Jane; Aleman, Tomas S.

Doc Ophthalmol ; 143(3): 305-312, 2021 12.

Artigo em Inglês | MEDLINE | ID: mdl-34259982

8.

Unicoronal Craniosynostosis: Is There a Lateral Difference in Retinal Morphology?

Kalmar, Christopher L; Carlson, Anna R; Zapatero, Zachary D; Kosyk, Mychajlo S; Aleman, Tomas S; Bartlett, Scott P; Liu, Grant T; Avery, Robert A; Taylor, Jesse A; Swanson, Jordan W.

J Craniofac Surg ; 32(7): 2370-2372, 2021 Oct 01.

Artigo em Inglês | MEDLINE | ID: mdl-34054088

9.

Structural correlates of atypical visual and motor cortical oscillations in pediatric-onset multiple sclerosis.

Waldman, Amy T; Sollee, John R; Datta, Ritobrato; Lavery, Amy M; Liu, Geraldine; Aleman, Tomas S; Banwell, Brenda L; Gaetz, William C.

Hum Brain Mapp ; 41(15): 4299-4313, 2020 10 15.

Artigo em Inglês | MEDLINE | ID: mdl-32648649

10.

Amelioration of Neurosensory Structure and Function in Animal and Cellular Models of a Congenital Blindness.

Song, Ji Yun; Aravand, Puya; Nikonov, Sergei; Leo, Lanfranco; Lyubarsky, Arkady; Bennicelli, Jeannette L; Pan, Jieyan; Wei, Zhangyong; Shpylchak, Ivan; Herrera, Pamela; Bennett, Daniel J; Commins, Nicoletta; Maguire, Albert M; Pham, Jennifer; den Hollander, Anneke I; Cremers, Frans P M; Koenekoop, Robert K; Roepman, Ronald; Nishina, Patsy; Zhou, Shangzhen; Pan, Wei; Ying, Gui-Shuang; Aleman, Tomas S; de Melo, Jimmy; McNamara, Ilan; Sun, Junwei; Mills, Jason; Bennett, Jean.

Mol Ther ; 26(6): 1581-1593, 2018 06 06.

Artigo em Inglês | MEDLINE | ID: mdl-29673930

11.

FREQUENT SUBCLINICAL MACULAR CHANGES IN COMBINED BRAF/MEK INHIBITION WITH HIGH-DOSE HYDROXYCHLOROQUINE AS TREATMENT FOR ADVANCED METASTATIC BRAF MUTANT MELANOMA: Preliminary Results From a Phase I/II Clinical Treatment Trial.

Nti, Akosua A; Serrano, Leona W; Sandhu, Harpal S; Uyhazi, Katherine E; Edelstein, Ilaina D; Zhou, Elaine J; Bowman, Scott; Song, Delu; Gangadhar, Tara C; Schuchter, Lynn M; Mitnick, Sheryl; Huang, Alexander; Nichols, Charles W; Amaravadi, Ravi K; Kim, Benjamin J; Aleman, Tomas S.

Retina ; 39(3): 502-513, 2019 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-29324592

12.

Natural History of the Central Structural Abnormalities in Choroideremia: A Prospective Cross-Sectional Study.

Aleman, Tomas S; Han, Grace; Serrano, Leona W; Fuerst, Nicole M; Charlson, Emily S; Pearson, Denise J; Chung, Daniel C; Traband, Anastasia; Pan, Wei; Ying, Gui-Shuang; Bennett, Jean; Maguire, Albert M; Morgan, Jessica I W.

Ophthalmology ; 124(3): 359-373, 2017 03.

Artigo em Inglês | MEDLINE | ID: mdl-27986385

13.

Inherited Retinal Disease Panels-Caveat Emptor-Truly Know Your Inherited Retinal Disease Panel.

Pulido, Jose S; Procopio, Rebecca; Davila, Hiram J; Bello, Nicholas; Ku, Cristy; Pennesi, Mark E; Yang, Paul; Nagiel, Aaron; Mahroo, Omar A; Aleman, Tomas S; Salido, Ezequiel M; Reynolds, Margaret.

Retina ; 42(1): 1-3, 2022 01 01.

Artigo em Inglês | MEDLINE | ID: mdl-34690342

14.

Charcot-Marie-Tooth Disease Associated With a Novel Mutation in MFN2 Presenting With Subacute Vision Loss.

Li, Yafeng; Aleman, Tomas S; Quinn, Colin C; Xia, Tian; Miller, Charles G; Kim, Benjamin J; Tamhankar, Madhura A.

J Neuroophthalmol ; 42(1): e381-e384, 2022 03 01.

Artigo em Inglês | MEDLINE | ID: mdl-34924536

15.

Obstructive sleep apnea and central serous chorioretinopathy.

Brodie, Frank L; Charlson, Emily S; Aleman, Tomas S; Salvo, Rebecca T; Gewaily, Dina Y; Lau, Marisa K; Farren, Neil D; Engelhard, Stephanie B; Pistilli, Maxwell; Brucker, Alexander J.

Retina ; 35(2): 238-43, 2015 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-25127049

16.

Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa.

Beltran, William A; Cideciyan, Artur V; Lewin, Alfred S; Iwabe, Simone; Khanna, Hemant; Sumaroka, Alexander; Chiodo, Vince A; Fajardo, Diego S; Román, Alejandro J; Deng, Wen-Tao; Swider, Malgorzata; Alemán, Tomas S; Boye, Sanford L; Genini, Sem; Swaroop, Anand; Hauswirth, William W; Jacobson, Samuel G; Aguirre, Gustavo D.

Proc Natl Acad Sci U S A ; 109(6): 2132-7, 2012 Feb 07.

Artigo em Inglês | MEDLINE | ID: mdl-22308428

17.

Diagnostic and Therapeutic Challenges.

Tripathy, Koushik; Aleman, Tomas S.

Retina ; 39(10): 2053-2058, 2019 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-30074523

18.

Stimulus type and duration affect magnitude and evolution of flicker-induced hyperemia measured by laser speckle flowgraphy at the optic disc and peripapillary vessels.

Aung, Moe H; Aleman, Tomas S; Garcia, Arielle S; McGeehan, Brendan; Ying, Gui-Shuang; Avery, Robert A.

Sci Rep ; 14(1): 6659, 2024 03 20.

Artigo em Inglês | MEDLINE | ID: mdl-38509194

19.

Retinal response to light exposure in BEST1-mutant dogs evaluated with ultra-high resolution OCT.

Wu, Vivian; Swider, Malgorzata; Sumaroka, Alexander; Dufour, Valerie L; Vance, Joseph E; Aleman, Tomas S; Aguirre, Gustavo D; Beltran, William A; Cideciyan, Artur V.

Vision Res ; 218: 108379, 2024 05.

Artigo em Inglês | MEDLINE | ID: mdl-38460402

20.

Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy.

Cideciyan, Artur V; Rachel, Rivka A; Aleman, Tomas S; Swider, Malgorzata; Schwartz, Sharon B; Sumaroka, Alexander; Roman, Alejandro J; Stone, Edwin M; Jacobson, Samuel G; Swaroop, Anand.

Hum Mol Genet ; 20(7): 1411-23, 2011 Apr 01.

Artigo em Inglês | MEDLINE | ID: mdl-21245082

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