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Page 1
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: valiaho j. Blood. 2001 Jan 1;97(1):81-8. doi: 10.1182/blood.v97.1.81. Blood. 2001. PMID: 11133745 Free article.
The mutational spectrum of human malignant autosomal recessive osteopetrosis.
Sobacchi C, Frattini A, Orchard P, Porras O, Tezcan I, Andolina M, Babul-Hirji R, Baric I, Canham N, Chitayat D, Dupuis-Girod S, Ellis I, Etzioni A, Fasth A, Fisher A, Gerritsen B, Gulino V, Horwitz E, Klamroth V, Lanino E, Mirolo M, Musio A, Matthijs G, Nonomaya S, Notarangelo LD, Ochs HD, Superti Furga A, Valiaho J, van Hove JL, Vihinen M, Vujic D, Vezzoni P, Villa A. Sobacchi C, et al. Among authors: valiaho j. Hum Mol Genet. 2001 Aug 15;10(17):1767-73. doi: 10.1093/hmg/10.17.1767. Hum Mol Genet. 2001. PMID: 11532986
Primary immunodeficiency mutation databases.
Vihinen M, Arredondo-Vega FX, Casanova JL, Etzioni A, Giliani S, Hammarström L, Hershfield MS, Heyworth PG, Hsu AP, Lähdesmäki A, Lappalainen I, Notarangelo LD, Puck JM, Reith W, Roos D, Schumacher RF, Schwarz K, Vezzoni P, Villa A, Väliaho J, Smith CI. Vihinen M, et al. Among authors: valiaho j. Adv Genet. 2001;43:103-88. doi: 10.1016/s0065-2660(01)43005-7. Adv Genet. 2001. PMID: 11037300 Review.
Novel immunodeficiency data servers.
Väliaho J, Riikonen P, Vihinen M. Väliaho J, et al. Immunol Rev. 2000 Dec;178:177-85. doi: 10.1034/j.1600-065x.2000.17807.x. Immunol Rev. 2000. PMID: 11213802 Review.
Immunodeficiency mutation databases (IDbases).
Piirilä H, Väliaho J, Vihinen M. Piirilä H, et al. Among authors: valiaho j. Hum Mutat. 2006 Dec;27(12):1200-8. doi: 10.1002/humu.20405. Hum Mutat. 2006. PMID: 17004234 Review.
Structure-function effects in primary immunodeficiencies.
Korpi M, Väliaho J, Vihinen M. Korpi M, et al. Among authors: valiaho j. Scand J Immunol. 2000 Sep;52(3):226-32. doi: 10.1046/j.1365-3083.2000.00799.x. Scand J Immunol. 2000. PMID: 10972897 Free article. Review.
27 results