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Page 1
Phenotypic manifestations of copy number variation in chromosome 16p13.11.
Nagamani SC, Erez A, Bader P, Lalani SR, Scott DA, Scaglia F, Plon SE, Tsai CH, Reimschisel T, Roeder E, Malphrus AD, Eng PA, Hixson PM, Kang SH, Stankiewicz P, Patel A, Cheung SW. Nagamani SC, et al. Eur J Hum Genet. 2011 Mar;19(3):280-6. doi: 10.1038/ejhg.2010.184. Epub 2010 Dec 8. Eur J Hum Genet. 2011. PMID: 21150890 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.
Early Infiltration of Innate Immune Cells to the Liver Depletes HNF4α and Promotes Extrahepatic Carcinogenesis.
Goldman O, Adler LN, Hajaj E, Croese T, Darzi N, Galai S, Tishler H, Ariav Y, Lavie D, Fellus-Alyagor L, Oren R, Kuznetsov Y, David E, Jaschek R, Stossel C, Singer O, Malitsky S, Barak R, Seger R, Erez N, Amit I, Tanay A, Saada A, Golan T, Rubinek T, Sang Lee J, Ben-Shachar S, Wolf I, Erez A. Goldman O, et al. Cancer Discov. 2023 Jul 7;13(7):1616-1635. doi: 10.1158/2159-8290.CD-22-1062. Cancer Discov. 2023. PMID: 36972357 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.
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. 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.
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. Nat Med. 2011 Nov 13;17(12):1619-26. doi: 10.1038/nm.2544. Nat Med. 2011. PMID: 22081021 Free PMC article.
18 results