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Interleukin-7 receptor alpha (IL-7Ralpha) deficiency: cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel patients.
Giliani S, Mori L, de Saint Basile G, Le Deist F, Rodriguez-Perez C, Forino C, Mazzolari E, Dupuis S, Elhasid R, Kessel A, Galambrun C, Gil J, Fischer A, Etzioni A, Notarangelo LD. Giliani S, et al. Among authors: de saint basile g. Immunol Rev. 2005 Feb;203:110-26. doi: 10.1111/j.0105-2896.2005.00234.x. Immunol Rev. 2005. PMID: 15661025 Review.
Omenn syndrome in an infant with IL7RA gene mutation.
Giliani S, Bonfim C, de Saint Basile G, Lanzi G, Brousse N, Koliski A, Malvezzi M, Fischer A, Notarangelo LD, Le Deist F. Giliani S, et al. Among authors: de saint basile g. J Pediatr. 2006 Feb;148(2):272-4. doi: 10.1016/j.jpeds.2005.10.004. J Pediatr. 2006. PMID: 16492442
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: de saint basile g. 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: de saint basile g. Hum Genet. 1989 Dec;84(1):19-21. doi: 10.1007/BF00210664. Hum Genet. 1989. PMID: 2575070
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. Among authors: de saint basile g. Immunol Today. 1996 Nov;17(11):511-6. doi: 10.1016/0167-5699(96)30059-5. Immunol Today. 1996. PMID: 8961627
Occurrence of nodular lymphocyte-predominant hodgkin lymphoma in hermansky-pudlak type 2 syndrome is associated to natural killer and natural killer T cell defects.
Lorenzi L, Tabellini G, Vermi W, Moratto D, Porta F, Notarangelo LD, Patrizi O, Sozzani S, de Saint Basile G, Latour S, Pace D, Lonardi S, Facchetti F, Badolato R, Parolini S. Lorenzi L, et al. Among authors: de saint basile g. PLoS One. 2013 Nov 26;8(11):e80131. doi: 10.1371/journal.pone.0080131. eCollection 2013. PLoS One. 2013. PMID: 24302998 Free PMC article.
230 results