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Page 1
Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27.
Peddibhotla S, Nagamani SC, Erez A, Hunter JV, Holder JL Jr, Carlin ME, Bader PI, Perras HM, Allanson JE, Newman L, Simpson G, Immken L, Powell E, Mohanty A, Kang SH, Stankiewicz P, Bacino CA, Bi W, Patel A, Cheung SW. Peddibhotla S, et al. Among authors: nagamani sc. Eur J Hum Genet. 2015 Jan;23(1):54-60. doi: 10.1038/ejhg.2014.51. Epub 2014 Apr 16. Eur J Hum Genet. 2015. PMID: 24736736 Free PMC article. Review.
Assessing disease experience across the life span for individuals with osteogenesis imperfecta: challenges and opportunities for patient-reported outcomes (PROs) measurement: a pilot study.
Tosi LL, Floor MK, Dollar CM, Gillies AP; Members of the Brittle Bone Disease Consortium; Hart TS, Cuthbertson DD, Sutton VR, Krischer JP. Tosi LL, et al. Orphanet J Rare Dis. 2019 Jan 29;14(1):23. doi: 10.1186/s13023-019-1004-x. Orphanet J Rare Dis. 2019. PMID: 30696467 Free PMC article.
Osteogenesis Imperfecta: Skeletal and Non-skeletal Challenges in Adulthood.
Hald JD, Langdahl B, Folkestad L, Wekre LL, Johnson R, Nagamani SCS, Raggio C, Ralston SH, Semler O, Tosi L, Orwoll E. Hald JD, et al. Among authors: nagamani scs. Calcif Tissue Int. 2024 Dec;115(6):863-872. doi: 10.1007/s00223-024-01236-x. Epub 2024 Jun 5. Calcif Tissue Int. 2024. PMID: 38836890 Review.
Impact of supplementation with L-citrulline/arginine after liver transplantation in individuals with Urea Cycle Disorders.
Posset R, Garbade SF, Gleich F, Nagamani SCS, Gropman AL, Epp F, Ramdhouni N, Druck AC, Hoffmann GF, Kölker S, Zielonka M; Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E-IMD) consortia study group. Posset R, et al. Mol Genet Metab. 2024 Mar;141(3):108112. doi: 10.1016/j.ymgme.2023.108112. Epub 2023 Dec 10. Mol Genet Metab. 2024. PMID: 38301530 Free article.
Requirement of argininosuccinate lyase for systemic nitric oxide production.
Erez A, Nagamani SC, Shchelochkov OA, Premkumar MH, Campeau PM, Chen Y, Garg HK, Li L, Mian A, Bertin TK, Black JO, Zeng H, Tang Y, Reddy AK, Summar M, O'Brien WE, Harrison DG, Mitch WE, Marini JC, Aschner JL, Bryan NS, Lee B. Erez A, et al. Among authors: nagamani sc. Nat Med. 2011 Nov 13;17(12):1619-26. doi: 10.1038/nm.2544. Nat Med. 2011. PMID: 22081021 Free PMC article.
Argininosuccinate lyase deficiency.
Nagamani SC, Erez A, Lee B. Nagamani SC, et al. Genet Med. 2012 May;14(5):501-7. doi: 10.1038/gim.2011.1. Epub 2012 Jan 5. Genet Med. 2012. PMID: 22241104 Free PMC article. Review.
Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria.
Nagamani SC, Campeau PM, Shchelochkov OA, Premkumar MH, Guse K, Brunetti-Pierri N, Chen Y, Sun Q, Tang Y, Palmer D, Reddy AK, Li L, Slesnick TC, Feig DI, Caudle S, Harrison D, Salviati L, Marini JC, Bryan NS, Erez A, Lee B. Nagamani SC, et al. Am J Hum Genet. 2012 May 4;90(5):836-46. doi: 10.1016/j.ajhg.2012.03.018. Epub 2012 Apr 26. Am J Hum Genet. 2012. PMID: 22541557 Free PMC article.
Optimizing therapy for argininosuccinic aciduria.
Nagamani SC, Lee B, Erez A. Nagamani SC, et al. Mol Genet Metab. 2012 Sep;107(1-2):10-4. doi: 10.1016/j.ymgme.2012.07.009. Epub 2012 Jul 20. Mol Genet Metab. 2012. PMID: 22841516 Free PMC article. Review.
109 results