Jenny LA - Search Results

1

Expanding the Phenotypic and Genotypic Spectrum of Weaver Syndrome: A Missense Variant of the EZH2 Gene.

Kendir-Demirkol Y, Yeter B, Jenny LA. Kendir-Demirkol Y, et al. Among authors: jenny la. Mol Syndromol. 2024 Mar;15(2):161-166. doi: 10.1159/000533733. Epub 2023 Sep 28. Mol Syndromol. 2024. PMID: 38585548 Free PMC article.

2

Evaluation of common NLRP3 Q703K variant in pediatric patients with autoinflammatory disease: CAPS and PFAPA.

Kendir-Demirkol Y, Jenny LA, Demir F, Sözeri B. Kendir-Demirkol Y, et al. Among authors: jenny la. Turk J Pediatr. 2023;65(4):650-660. doi: 10.24953/turkjped.2023.166. Turk J Pediatr. 2023. PMID: 37661680 Free article.

3

The Protective Effects of Pyridoxine on Linezolid-Induced Hematological Toxicity, Hepatotoxicity, and Oxidative Stress in Rats.

Kendir-Demirkol Y, Jenny LA, Demirkol A, Özen M, Ayata A, Canatan D. Kendir-Demirkol Y, et al. Among authors: jenny la. Turk Arch Pediatr. 2023 May;58(3):298-301. doi: 10.5152/TurkArchPediatr.2023.21363. Turk Arch Pediatr. 2023. PMID: 37144263 Free PMC article.

4

Evaluating precision medicine approaches for gene therapy in patient-specific cellular models of Bietti crystalline dystrophy.

Li Y, Yang RR, Li YS, Hsu CW, Jenny LA, Kong Y, Ruan MZ, Sparrow JR, Tsang SH. Li Y, et al. Among authors: jenny la. JCI Insight. 2024 Aug 22;9(16):e177231. doi: 10.1172/jci.insight.177231. JCI Insight. 2024. PMID: 39171529 Free PMC article.

5

Cross-Sectional Analysis of Outer Retinal Tubulation in Inherited Retinal Diseases: A Multicenter Study.

Liu PK, Lee W, Su PY, Kim AH, Kang EY, Levi SR, Jenny LA, Lin PH, Chi YC, Wu PL, Wang EH, Chang YC, Liu L, Chen KJ, Hwang YS, Wu WC, Lai CC, Tsang SH, Allikmets R, Wang NK. Liu PK, et al. Among authors: jenny la. Am J Ophthalmol. 2024 Aug 8;269:116-135. doi: 10.1016/j.ajo.2024.07.032. Online ahead of print. Am J Ophthalmol. 2024. PMID: 39127396

6

CRISPR editing of anti-anemia drug target rescues independent preclinical models of retinitis pigmentosa.

Nolan ND, Cui X, Robbings BM, Demirkol A, Pandey K, Wu WH, Hu HF, Jenny LA, Lin CS, Hass DT, Du J, Hurley JB, Tsang SH. Nolan ND, et al. Among authors: jenny la. Cell Rep Med. 2024 Apr 16;5(4):101459. doi: 10.1016/j.xcrm.2024.101459. Epub 2024 Mar 21. Cell Rep Med. 2024. PMID: 38518771 Free PMC article.

7

Clinical Characteristics and Genetic Variants in Taiwanese Patients With PROM1-Related Inherited Retinal Disorders.

Lin TY, Wu PL, Kang EY, Chi YC, Jenny LA, Lin PH, Lee CY, Liu CH, Liu L, Yeh LK, Chen KJ, Hwang YS, Wu WC, Lai CC, Hsiao MC, Liu PK, Wang NK. Lin TY, et al. Among authors: jenny la. Invest Ophthalmol Vis Sci. 2023 Nov 1;64(14):25. doi: 10.1167/iovs.64.14.25. Invest Ophthalmol Vis Sci. 2023. PMID: 37975849 Free PMC article.

8

Rod Photoreceptor-Specific Ablation of Metformin Target, AMPK, in a Preclinical Model of Autosomal Recessive Retinitis Pigmentosa.

Nolan ND, Jenny LA, Tsang SH, Cui X. Nolan ND, et al. Among authors: jenny la. Adv Exp Med Biol. 2023;1415:403-408. doi: 10.1007/978-3-031-27681-1_59. Adv Exp Med Biol. 2023. PMID: 37440064

9

Analysis of CRB1 Pathogenic Variants Correctable with CRISPR Base and Prime Editing.

da Costa BL, Jenny LA, Maumenee IH, Tsang SH, Quinn PMJ. da Costa BL, et al. Among authors: jenny la. Adv Exp Med Biol. 2023;1415:103-107. doi: 10.1007/978-3-031-27681-1_16. Adv Exp Med Biol. 2023. PMID: 37440021

10

Prime Editing Strategy to Install the PRPH2 c.828+1G>A Mutation.

Caruso SM, Tsai YT, da Costa BL, Kolesnikova M, Jenny LA, Tsang SH, Quinn PMJ. Caruso SM, et al. Among authors: jenny la. Adv Exp Med Biol. 2023;1415:97-102. doi: 10.1007/978-3-031-27681-1_15. Adv Exp Med Biol. 2023. PMID: 37440020

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