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Page 1
BTKbase: a database of XLA-causing mutations. International Study Group.
Vihinen M, Cooper MD, de Saint Basile G, Fischer A, Good RA, Hendriks RW, Kinnon C, Kwan SP, Litman GW, Notarangelo LD, et al. Vihinen M, et al. Among authors: notarangelo ld. Immunol Today. 1995 Oct;16(10):460-5. doi: 10.1016/0167-5699(95)80027-1. Immunol Today. 1995. PMID: 7576047 Review. No abstract available.
Close linkage of probe p212 (DXS178) to X-linked agammaglobulinemia.
Guioli S, Arveiler B, Bardoni B, Notarangelo LD, Panina P, Duse M, Ugazio A, Oberlé I, de Saint Basile G, Mandel JL, et al. Guioli S, et al. Among authors: notarangelo ld. Hum Genet. 1989 Dec;84(1):19-21. doi: 10.1007/BF00210664. Hum Genet. 1989. PMID: 2575070
Structural basis for chromosome X-linked agammaglobulinemia: a tyrosine kinase disease.
Vihinen M, Vetrie D, Maniar HS, Ochs HD, Zhu Q, Vorechovský I, Webster AD, Notarangelo LD, Nilsson L, Sowadski JM, et al. Vihinen M, et al. Among authors: notarangelo ld. Proc Natl Acad Sci U S A. 1994 Dec 20;91(26):12803-7. doi: 10.1073/pnas.91.26.12803. Proc Natl Acad Sci U S A. 1994. PMID: 7809124 Free PMC article.
Mapping of the X linked form of hyper IgM syndrome (HIGM1).
Padayachee M, Levinsky RJ, Kinnon C, Finn A, McKeown C, Feighery C, Notarangelo LD, Hendriks RW, Read AP, Malcolm S. Padayachee M, et al. Among authors: notarangelo ld. J Med Genet. 1993 Mar;30(3):202-5. doi: 10.1136/jmg.30.3.202. J Med Genet. 1993. PMID: 8097258 Free PMC article.
CD40lbase: a database of CD40L gene mutations causing X-linked hyper-IgM syndrome.
Notarangelo LD, Peitsch MC, Abrahamsen TG, Bachelot C, Bordigoni P, Cant AJ, Chapel H, Clementi M, Deacock S, de Saint Basile G, Duse M, Espanol T, Etzioni A, Fasth A, Fischer A, Giliani S, Gomez L, Hammarstorm L, Jones A, Kanariou M, Kinnon C, Klemola T, Kroczek RA, Levy J, Matamoros N, Monafo V, Paolucci P, Reznick I, Sanal O, Smith CI, Thompson RA, Tovo P, Villa A, Vihinen M, Vossen J, Zegers BJ. Notarangelo LD, et al. Immunol Today. 1996 Nov;17(11):511-6. doi: 10.1016/0167-5699(96)30059-5. Immunol Today. 1996. PMID: 8961627
Structural basis for SH2D1A mutations in X-linked lymphoproliferative disease.
Lappalainen I, Giliani S, Franceschini R, Bonnefoy JY, Duckett C, Notarangelo LD, Vihinen M. Lappalainen I, et al. Among authors: notarangelo ld. Biochem Biophys Res Commun. 2000 Mar 5;269(1):124-30. doi: 10.1006/bbrc.2000.2146. Biochem Biophys Res Commun. 2000. PMID: 10694488
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: notarangelo ld. Adv Genet. 2001;43:103-88. doi: 10.1016/s0065-2660(01)43005-7. Adv Genet. 2001. PMID: 11037300 Review.
770 results