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Duchenne Muscular Dystrophy in Two Half-Brothers Due to Inherited 306 Kb Inverted Insertion of 10p15.1 into Intron 44 of the Dp427m Transcript of the DMD Gene.
Jepsen WM, Fazenbaker A, Ramsey K, Bonfitto A, Naymik M, Turner B, Sloan J, Tiwari N, Bernes SM, Neilson DE, Sanchez-Castillo M, Huentelman MJ, Narayanan V. Jepsen WM, et al. Among authors: neilson de. Int J Mol Sci. 2024 Nov 6;25(22):11922. doi: 10.3390/ijms252211922. Int J Mol Sci. 2024. PMID: 39595988 Free PMC article.
Losartan Treatment Reduces Esophageal Eosinophilic Inflammation in a Subset of Eosinophilic Esophagitis.
Abonia JP, Rudman Spergel AK, Hirano I, Shoda T, Zhang X, Martin LJ, Mukkada VA, Putnam PE, Blacklidge M, Neilson D, Collins MH, Yang GY, Capocelli KE, Foote H, Eby M, Dong S, Aceves SS, Rothenberg ME; Consortium of Eosinophilic Gastrointestinal Disease Researchers. Abonia JP, et al. Among authors: neilson d. J Allergy Clin Immunol Pract. 2024 Sep;12(9):2427-2438.e3. doi: 10.1016/j.jaip.2024.07.011. Epub 2024 Jul 25. J Allergy Clin Immunol Pract. 2024. PMID: 39059581 Clinical Trial.
FDXR variants cause adrenal insufficiency and atypical sexual development.
Pignatti E, Slone J, Gómez Cano MÁ, Campbell TM, Vu J, Sauter KS, Pandey AV, Martínez-Azorín F, Alonso-Riaño M, Neilson DE, Longo N, du Toit T, Voegel CD, Huang T, Flück CE. Pignatti E, et al. Among authors: neilson de. JCI Insight. 2024 Jun 17;9(14):e179071. doi: 10.1172/jci.insight.179071. JCI Insight. 2024. PMID: 38885337 Free PMC article.
Clinical study of ferredoxin-reductase-related mitochondriopathy: Genotype-phenotype correlation and proposal of ancestry-based carrier screening in the Mexican population.
Campbell T, Slone J, Metzger H, Liu W, Sacharow S, Yang A, Moosajee M, La Morgia C, Carelli V, Palombo F, Lines MA, Innes AM, Levy RJ, Neilson D, Longo N, Huang T. Campbell T, et al. Among authors: neilson d. Genet Med Open. 2023 Nov 11;2:100841. doi: 10.1016/j.gimo.2023.100841. eCollection 2024. Genet Med Open. 2023. PMID: 39669623 Free PMC article.
184 results