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104 results

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Page 1
Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders.
Posset R, Garbade SF, Gleich F, Scharre S, Okun JG, Gropman AL, Nagamani SCS, Druck AC, Epp F, Hoffmann GF, Kölker S, Zielonka M; Urea Cycle Disorders Consortium (UCDC); European registry and network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group. Posset R, et al. Among authors: nagamani scs. Genet Med. 2024 Apr;26(4):101039. doi: 10.1016/j.gim.2023.101039. Epub 2023 Dec 3. Genet Med. 2024. PMID: 38054409 Free article.
Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease.
van der Crabben SN, Hennus MP, McGregor GA, Ritter DI, Nagamani SC, Wells OS, Harakalova M, Chinn IK, Alt A, Vondrova L, Hochstenbach R, van Montfrans JM, Terheggen-Lagro SW, van Lieshout S, van Roosmalen MJ, Renkens I, Duran K, Nijman IJ, Kloosterman WP, Hennekam E, Orange JS, van Hasselt PM, Wheeler DA, Palecek JJ, Lehmann AR, Oliver AW, Pearl LH, Plon SE, Murray JM, van Haaften G. van der Crabben SN, et al. J Clin Invest. 2016 Aug 1;126(8):2881-92. doi: 10.1172/JCI82890. Epub 2016 Jul 18. J Clin Invest. 2016. PMID: 27427983 Free PMC article.
Induction of Nitric-Oxide Metabolism in Enterocytes Alleviates Colitis and Inflammation-Associated Colon Cancer.
Stettner N, Rosen C, Bernshtein B, Gur-Cohen S, Frug J, Silberman A, Sarver A, Carmel-Neiderman NN, Eilam R, Biton I, Pevsner-Fischer M, Zmora N, Brandis A, Bahar Halpern K, Mazkereth R, di Bernardo D, Brunetti-Pierri N, Premkumar MH, Dank G, Nagamani SCS, Jung S, Harmelin A, Erez A. Stettner N, et al. Among authors: nagamani scs. Cell Rep. 2018 May 15;23(7):1962-1976. doi: 10.1016/j.celrep.2018.04.053. Cell Rep. 2018. PMID: 29768197 Free PMC article.
Phenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 mutation.
Shapiro JR, Lietman C, Grover M, Lu JT, Nagamani SC, Dawson BC, Baldridge DM, Bainbridge MN, Cohn DH, Blazo M, Roberts TT, Brennen FS, Wu Y, Gibbs RA, Melvin P, Campeau PM, Lee BH. Shapiro JR, et al. J Bone Miner Res. 2013 Jul;28(7):1523-30. doi: 10.1002/jbmr.1891. J Bone Miner Res. 2013. PMID: 23408678 Free PMC article. Clinical Trial.
Evaluation of teriparatide treatment in adults with osteogenesis imperfecta.
Orwoll ES, Shapiro J, Veith S, Wang Y, Lapidus J, Vanek C, Reeder JL, Keaveny TM, Lee DC, Mullins MA, Nagamani SC, Lee B. Orwoll ES, et al. J Clin Invest. 2014 Feb;124(2):491-8. doi: 10.1172/JCI71101. Epub 2014 Jan 27. J Clin Invest. 2014. PMID: 24463451 Free PMC article. Clinical Trial.
104 results