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1998 1
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2024 0

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16 results

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Page 1
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. Adv Genet. 2001;43:103-88. doi: 10.1016/s0065-2660(01)43005-7. Adv Genet. 2001. PMID: 11037300 Review.
Recombinase activating gene enzymes of lymphocytes.
Notarangelo LD, Santagata S, Villa A. Notarangelo LD, et al. Curr Opin Hematol. 2001 Jan;8(1):41-6. doi: 10.1097/00062752-200101000-00008. Curr Opin Hematol. 2001. PMID: 11138625 Review.
Of genes and phenotypes: the immunological and molecular spectrum of combined immune deficiency. Defects of the gamma(c)-JAK3 signaling pathway as a model.
Notarangelo LD, Giliani S, Mazza C, Mella P, Savoldi G, Rodriguez-Pérez C, Mazzolari E, Fiorini M, Duse M, Plebani A, Ugazio AG, Vihinen M, Candotti F, Schumacher RF. Notarangelo LD, et al. Immunol Rev. 2000 Dec;178:39-48. doi: 10.1034/j.1600-065x.2000.17812.x. Immunol Rev. 2000. PMID: 11213805 Review.
RAG and RAG defects.
Notarangelo LD, Villa A, Schwarz K. Notarangelo LD, et al. Curr Opin Immunol. 1999 Aug;11(4):435-42. doi: 10.1016/S0952-7915(99)80073-9. Curr Opin Immunol. 1999. PMID: 10448134 Review.
Omenn syndrome: a disorder of Rag1 and Rag2 genes.
Villa A, Santagata S, Bozzi F, Imberti L, Notarangelo LD. Villa A, et al. J Clin Immunol. 1999 Mar;19(2):87-97. doi: 10.1023/a:1020550432126. J Clin Immunol. 1999. PMID: 10226883 Review.
X-linked immunodeficiency with hyper-IgM (XHIM).
Notarangelo LD, Hayward AR. Notarangelo LD, et al. Clin Exp Immunol. 2000 Jun;120(3):399-405. doi: 10.1046/j.1365-2249.2000.01142.x. Clin Exp Immunol. 2000. PMID: 10844515 Free PMC article. Review. No abstract available.
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. Prenat Diagn. 2000 Jan;20(1):56-9. Prenat Diagn. 2000. PMID: 10701853
Prenatal diagnosis of JAK3 deficient SCID.
Schumacher RF, Mella P, Lalatta F, Fiorini M, Giliani S, Villa A, Candotti F, Notarangelo LD. Schumacher RF, et al. Prenat Diagn. 1999 Jul;19(7):653-6. Prenat Diagn. 1999. PMID: 10419614
Partial V(D)J recombination activity leads to Omenn syndrome.
Villa A, Santagata S, Bozzi F, Giliani S, Frattini A, Imberti L, Gatta LB, Ochs HD, Schwarz K, Notarangelo LD, Vezzoni P, Spanopoulou E. Villa A, et al. Cell. 1998 May 29;93(5):885-96. doi: 10.1016/s0092-8674(00)81448-8. Cell. 1998. PMID: 9630231 Free article.
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