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1.

Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy.

Van de Sompele, Stijn; Small, Kent W; Cicekdal, Munevver Burcu; Soriano, Víctor López; D'haene, Eva; Shaya, Fadi S; Agemy, Steven; Van der Snickt, Thijs; Rey, Alfredo Dueñas; Rosseel, Toon; Van Heetvelde, Mattias; Vergult, Sarah; Balikova, Irina; Bergen, Arthur A; Boon, Camiel J F; De Zaeytijd, Julie; Inglehearn, Chris F; Kousal, Bohdan; Leroy, Bart P; Rivolta, Carlo; Vaclavik, Veronika; van den Ende, Jenneke; van Schooneveld, Mary J; Gómez-Skarmeta, José Luis; Tena, Juan J; Martinez-Morales, Juan R; Liskova, Petra; Vleminckx, Kris; De Baere, Elfride.

Am J Hum Genet; 109(11): 2029-2048, 2022 11 03.

Artículo en Inglés | MEDLINE | ID: mdl-36243009

2.

Two novel non-coding single nucleotide variants in the DNase1 hypersensitivity site of PRDM13 causing North Carolina macular dystrophy in Korea.

Seo, Yuri; Joo, Kwangsic; Lee, Junwon; Diaz, Amber; Jang, Sohyun; Cherry, Timothy J; Bujakowska, Kinga M; Han, Jinu; Woo, Se Joon; Small, Kent W.

Mol Vis; 30: 58-66, 2024.

Artículo en Inglés | MEDLINE | ID: mdl-38601016

3.

GMP-grade human neural progenitors delivered subretinally protect vision in rat model of retinal degeneration and survive in minipigs.

Lu, Bin; Avalos, Pablo; Svendsen, Soshana; Zhang, Changqing; Nocito, Laura; Jones, Melissa K; Pieplow, Cosmo; Saylor, Joshua; Ghiam, Sean; Block, Amanda; Fernandez, Michael; Ljubimov, Alexander V; Small, Kent; Liao, David; Svendsen, Clive N; Wang, Shaomei.

J Transl Med; 21(1): 650, 2023 09 25.

Artículo en Inglés | MEDLINE | ID: mdl-37743503

4.

CONGENITAL POSTERIOR POLAR CHORIORETINAL HYPOPLASIA: Expansion of the Clinical Spectrum, Mutation, and Its Association With PRDM13.

Small, Kent W; Tawfik, Caroline A; Udar, Nitin; Udar, Uma; Avetisjan, Jessica; El-Aidy, Lamia A; Shaya, Fadi S.

Retina; 42(12): 2379-2387, 2022 12 01.

Artículo en Inglés | MEDLINE | ID: mdl-36007168

5.

A novel duplication involving PRDM13 in a Turkish family supports its role in North Carolina macular dystrophy (NCMD/MCDR1).

Small, Kent W; Van de Sompele, Stijn; Nuytemans, Karen; Vincent, Andrea; Yuregir, Ozge Ozalp; Ciloglu, Emine; Sariyildiz, Cahfer; Rosseel, Toon; Avetisjan, Jessica; Udar, Nitin; Vance, Jeffery M; Pericak-Vance, Margaret A; De Baere, Elfride; Shaya, Fadi S.

Mol Vis; 27: 518-527, 2021.

Artículo en Inglés | MEDLINE | ID: mdl-34526759

6.

CFH and ARMS2 genetic risk determines progression to neovascular age-related macular degeneration after antioxidant and zinc supplementation.

Vavvas, Demetrios G; Small, Kent W; Awh, Carl C; Zanke, Brent W; Tibshirani, Robert J; Kustra, Rafal.

Proc Natl Acad Sci U S A; 115(4): E696-E704, 2018 01 23.

Artículo en Inglés | MEDLINE | ID: mdl-29311295

7.

A letter to the editor regarding "A novel tandem duplication of PRDM13 in a Chinese family with North Carolina macular dystrophy".

Small, Kent W.

Graefes Arch Clin Exp Ophthalmol; 261(7): 2093-2095, 2023 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-36800024

8.

Comments on "The possible pathogenesis of macular caldera in patients with North Carolina macular dystrophy".

Small, Kent W.

BMC Ophthalmol; 23(1): 370, 2023 09 08.

Artículo en Inglés | MEDLINE | ID: mdl-37684600

9.

MACULAR DEGENERATION AND ASPIRIN USE.

Small, Kent W; Garabetian, Christine A; Shaya, Fadi S.

Retina; 37(9): 1630-1635, 2017 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-28613225

10.

North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13.

Small, Kent W; DeLuca, Adam P; Whitmore, S Scott; Rosenberg, Thomas; Silva-Garcia, Rosemary; Udar, Nitin; Puech, Bernard; Garcia, Charles A; Rice, Thomas A; Fishman, Gerald A; Héon, Elise; Folk, James C; Streb, Luan M; Haas, Christine M; Wiley, Luke A; Scheetz, Todd E; Fingert, John H; Mullins, Robert F; Tucker, Budd A; Stone, Edwin M.

Ophthalmology; 123(1): 9-18, 2016 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-26507665

11.

Reply to Vickers: Pharmacogenetics and progression to neovascular age-related macular degeneration-Evidence supporting practice change.

Vavvas, Demetrios G; Small, Kent W; Awh, Carl; Zanke, Brent W; Tibshirani, Robert J; Kustra, Rafal.

Proc Natl Acad Sci U S A; 115(25): E5640-E5641, 2018 06 19.

Artículo en Inglés | MEDLINE | ID: mdl-29880713

12.

Onset of an outbreak of Bipolaris hawaiiensis fungal endophthalmitis after intravitreal injections of triamcinolone.

Small, Kent W; Chan, Candy K; Silva-Garcia, Rosemary; Walsh, Thomas J.

Ophthalmology; 121(4): 952-8, 2014 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-24507858

13.

The 0.19-mg Fluocinolone Acetonide Intravitreal Implant for Diabetic Macular Edema: Intraocular Pressure-Related Effects over 36 Months.

Roth, Daniel B; Eichenbaum, David; Malik, Deepika; Radcliffe, Nathan M; Cutino, Antonio; Small, Kent W.

Ophthalmol Retina; 8(1): 49-54, 2024 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-37586482

14.

Mitochondrial DNA haplogroups confer differences in risk for age-related macular degeneration: a case control study.

Kenney, M Cristina; Hertzog, Dieter; Chak, Garrick; Atilano, Shari R; Khatibi, Nikan; Soe, Kyaw; Nobe, Andrew; Yang, Elizabeth; Chwa, Marilyn; Zhu, Feilin; Memarzadeh, Masood; King, Jacqueline; Langberg, Jonathan; Small, Kent; Nesburn, Anthony B; Boyer, David S; Udar, Nitin.

BMC Med Genet; 14: 4, 2013 Jan 09.

Artículo en Inglés | MEDLINE | ID: mdl-23302509

15.

Closure of Macular Holes With Topical Therapy.

Small, Kent W; Avetisjan, Jessica; Shaya, Fadi S.

J Vitreoretin Dis; 7(2): 109-115, 2023.

Artículo en Inglés | MEDLINE | ID: mdl-37006664

16.

A Randomised Phase I Study to Assess the Safety, Tolerability and Pharmacokinetics of Palovarotene Ophthalmic Solution.

Foster, William J; Strahs, Andrew L; Small, Kent W; Roach, James M.

Drugs R D; 23(1): 43-53, 2023 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-36542308

17.

New Noncoding Base Pair Mutation at the Identical Locus as the Original NCMD/MCDR1 in a Mexican Family, Suggesting a Mutational Hotspot.

Small, Kent W; Van de Sompele, Stijn; Avetisjan, Jessica; Udar, Nitin; Agemy, Steven; De Baere, Elfride; Shaya, Fadi S.

J Vitreoretin Dis; 7(1): 33-42, 2023.

Artículo en Inglés | MEDLINE | ID: mdl-37008391

18.

North Carolina Macular Dystrophy: Long-term Follow-up of the Original Family.

Small, Kent W; Wiggins, Robert; Udar, Nitin; Silva-Garcia, Rosemary; Avetisjan, Jessica; Vincent, Andrea; Shaya, Fadi S.

Ophthalmol Retina; 6(6): 512-519, 2022 06.

Artículo en Inglés | MEDLINE | ID: mdl-35151913

19.

Developmental or degenerative--NR2E3 gene mutations in two patients with enhanced S cone syndrome.

Udar, Nitin; Small, Kent; Chalukya, Meenal; Silva-Garcia, Rosamaria; Marmor, Michael.

Mol Vis; 17: 519-25, 2011 Feb 17.

Artículo en Inglés | MEDLINE | ID: mdl-21364904

20.

Thirty-Year follow-up of an African American family with macular dystrophy of the retina, locus 1 (North Carolina macular dystrophy).

Kiernan, Daniel F; Shah, Rohan J; Hariprasad, Seenu M; Grassi, Michael A; Small, Kent W; Kiernan, Joseph P; Mieler, William F.

Ophthalmology; 118(7): 1435-43, 2011 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-21310494

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