Notarangelo LD - Search Results

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. Among authors: notarangelo ld. Adv Genet. 2001;43:103-88. doi: 10.1016/s0065-2660(01)43005-7. Adv Genet. 2001. PMID: 11037300 Review.

2

The genomic organization of the human transcription factor 3 (TFE3) gene.

Macchi P, Notarangelo L, Giliani S, Strina D, Repetto M, Sacco MG, Vezzoni P, Villa A. Macchi P, et al. Genomics. 1995 Aug 10;28(3):491-4. doi: 10.1006/geno.1995.1179. Genomics. 1995. PMID: 7490085

3

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.

4

C to T mutation causing premature termination of CD40 ligand at amino acid 221 in a patient affected by hyper IgM syndrome.

Villa A, Strina D, Macchi P, Patrosso MC, Vezzoni P, Tovo PA, Giliani S, Ugazio AG, Notarangelo LD. Villa A, et al. Among authors: notarangelo ld. Hum Mutat. 1994;3(1):73-5. doi: 10.1002/humu.1380030115. Hum Mutat. 1994. PMID: 7906987 No abstract available.

5

Organization of the human CD40L gene: implications for molecular defects in X chromosome-linked hyper-IgM syndrome and prenatal diagnosis.

Villa A, Notarangelo LD, Di Santo JP, Macchi PP, Strina D, Frattini A, Lucchini F, Patrosso CM, Giliani S, Mantuano E, et al. Villa A, et al. Among authors: notarangelo ld. Proc Natl Acad Sci U S A. 1994 Mar 15;91(6):2110-4. doi: 10.1073/pnas.91.6.2110. Proc Natl Acad Sci U S A. 1994. PMID: 7907793 Free PMC article.

6

Defective expression of CD40 ligand on T cells causes "X-linked immunodeficiency with hyper-IgM (HIGM1)".

Kroczek RA, Graf D, Brugnoni D, Giliani S, Korthüer U, Ugazio A, Senger G, Mages HW, Villa A, Notarangelo LD. Kroczek RA, et al. Among authors: notarangelo ld. Immunol Rev. 1994 Apr;138:39-59. doi: 10.1111/j.1600-065x.1994.tb00846.x. Immunol Rev. 1994. PMID: 7915248 Review.

7

Absence of xid mutation in X-linked agammaglobulinaemia.

Vorechovsky I, Zhou JN, Hammarström L, Smith CI, Thomas JD, Paul WE, Notarangelo LD, Bernatowska-Matuszkiewicz E. Vorechovsky I, et al. Among authors: notarangelo ld. Lancet. 1993 Aug 28;342(8870):552. doi: 10.1016/0140-6736(93)91676-d. Lancet. 1993. PMID: 8102684 No abstract available.

8

Molecular analysis of X-linked immunodeficiency with hyper-IgM and X-linked lymphoproliferative syndrome.

Notarangelo LD, Mantuano E, Bione S, Gimbo E, Giliani S, Caraffini A, Purtilo D, Farr C, Ugazio AG, Toniolo D. Notarangelo LD, et al. Immunodeficiency. 1993;4(1-4):225-9. Immunodeficiency. 1993. PMID: 8167706 No abstract available.

9

Monocyte function in a severe combined immunodeficient patient with a donor splice site mutation in the Jak3 gene.

Villa A, Sironi M, Macchi P, Matteucci C, Notarangelo LD, Vezzoni P, Mantovani A. Villa A, et al. Among authors: notarangelo ld. Blood. 1996 Aug 1;88(3):817-23. Blood. 1996. PMID: 8704236 Free article.

10

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

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