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N-terminal RAG1 frameshift mutations in Omenn's syndrome: internal methionine usage leads to partial V(D)J recombination activity and reveals a fundamental role in vivo for the N-terminal domains.
Santagata S, Gomez CA, Sobacchi C, Bozzi F, Abinun M, Pasic S, Cortes P, Vezzoni P, Villa A. Santagata S, et al. Among authors: pasic s. Proc Natl Acad Sci U S A. 2000 Dec 19;97(26):14572-7. doi: 10.1073/pnas.97.26.14572. Proc Natl Acad Sci U S A. 2000. PMID: 11121059 Free PMC article.
Prenatal diagnosis of RAG-deficient Omenn syndrome.
Villa A, Bozzi F, Sobacchi C, Strina D, Fasth A, Pasic S, Notarangelo LD, Vezzoni P. Villa A, et al. Among authors: pasic s. Prenat Diagn. 2000 Jan;20(1):56-9. Prenat Diagn. 2000. PMID: 10701853
V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.
Villa A, Sobacchi C, Notarangelo LD, Bozzi F, Abinun M, Abrahamsen TG, Arkwright PD, Baniyash M, Brooks EG, Conley ME, Cortes P, Duse M, Fasth A, Filipovich AM, Infante AJ, Jones A, Mazzolari E, Muller SM, Pasic S, Rechavi G, Sacco MG, Santagata S, Schroeder ML, Seger R, Strina D, Ugazio A, Väliaho J, Vihinen M, Vogler LB, Ochs H, Vezzoni P, Friedrich W, Schwarz K. Villa A, et al. Among authors: pasic s. Blood. 2001 Jan 1;97(1):81-8. doi: 10.1182/blood.v97.1.81. Blood. 2001. PMID: 11133745 Free article.
Comment on Plebani et al.'s report.
Abinun M, Lilic D, Gagic N, Pasic S. Abinun M, et al. Among authors: pasic s. Clin Immunol. 2003 Jun;107(3):202-3; author reply 204. doi: 10.1016/s1521-6616(03)00039-1. Clin Immunol. 2003. PMID: 12804534 No abstract available.
Necrobiotic cutaneous granulomas in Nijmegen breakage syndrome.
Pasic S, Kandolf-Sekulovic L, Djuricic S, Zolotarevski L, Simic R, Abinun M. Pasic S, et al. J Investig Allergol Clin Immunol. 2012;22(2):138-40. J Investig Allergol Clin Immunol. 2012. PMID: 22533239 Free article. No abstract available.
104 results